CleftGeneDB-Search

Gene: ASS1

Basic information

Tag	Content
Uniprot ID	P00966; Q6LDL2; Q86UZ0; Q96GT4;
Entrez ID	445
Genbank protein ID	AAH21676.1; CAA25771.1; AAH09243.1; AAK67487.1; AAA51782.1; AAA51783.1;
Genbank nucleotide ID	NM_054012.3; NM_000050.4; XM_005272200.3;
Ensembl protein ID	ENSP00000361471; ENSP00000253004; ENSP00000361469;
Ensembl nucleotide ID	ENSG00000130707
Gene name	Argininosuccinate synthase
Gene symbol	ASS1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CL/P
Developmental stage
Data sources	Manually collected
Reference	20739017
Functional description	One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.
Sequence	MSSKGSVVLA YSGGLDTSCI LVWLKEQGYD VIAYLANIGQ KEDFEEARKK ALKLGAKKVF 60 IEDVSREFVE EFIWPAIQSS ALYEDRYLLG TSLARPCIAR KQVEIAQREG AKYVSHGATG 120 KGNDQVRFEL SCYSLAPQIK VIAPWRMPEF YNRFKGRNDL MEYAKQHGIP IPVTPKNPWS 180 MDENLMHISY EAGILENPKN QAPPGLYTKT QDPAKAPNTP DILEIEFKKG VPVKVTNVKD 240 GTTHQTSLEL FMYLNEVAGK HGVGRIDIVE NRFIGMKSRG IYETPAGTIL YHAHLDIEAF 300 TMDREVRKIK QGLGLKFAEL VYTGFWHSPE CEFVRHCIAK SQERVEGKVQ VSVLKGQVYI 360 LGRESPLSLY NEELVSMNVQ GDYEPTDATG FININSLRLK EYHRLQSKVT AK 412

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2NZ2

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	ASS1	280726	P14568			Bos taurus	Prediction	More>>
1:1 ortholog	ASS1		A0A452F1Z3			Capra hircus	Prediction	More>>
1:1 ortholog	ASS1	445	P00966	CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Ass1	11898	P16460		E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	ASS1	743223	H2QY18			Pan troglodytes	Prediction	More>>
1:1 ortholog		414411	A0A480HLI7			Sus scrofa	Prediction	More>>
1:1 ortholog	Ass1	25698	P09034			Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
ASS1	rs7860909A>G	PCR-RFLP	20739017

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000411464	p.Met1Ile	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452231G>A	ClinVar
RCV000665063	p.Met1Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452229A>G	ClinVar
rs200379004	p.Ser2Thr	missense variant	-	NC_000009.12:g.130452232T>A	1000Genomes,ExAC,gnomAD
rs201700775	p.Gly5Ala	missense variant	-	NC_000009.12:g.130452242G>C	ExAC,TOPMed,gnomAD
rs201700775	p.Gly5Val	missense variant	-	NC_000009.12:g.130452242G>T	ExAC,TOPMed,gnomAD
rs757913342	p.Ser6Ala	missense variant	-	NC_000009.12:g.130452244T>G	ExAC,TOPMed,gnomAD
COSM421933	p.Ser6Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130452245C>T	NCI-TCGA Cosmic
rs757913342	p.Ser6Pro	missense variant	-	NC_000009.12:g.130452244T>C	ExAC,TOPMed,gnomAD
rs149938546	p.Val7Met	missense variant	-	NC_000009.12:g.130452247G>A	ESP,ExAC,TOPMed,gnomAD
rs144999474	p.Leu9Val	missense variant	-	NC_000009.12:g.130452253C>G	ESP,ExAC
rs1283372037	p.Ser12Gly	missense variant	-	NC_000009.12:g.130452262A>G	TOPMed
rs121908636	p.Gly14Ser	missense variant	-	NC_000009.12:g.130452268G>A	ExAC,gnomAD
rs121908636	p.Gly14Ser	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt,dbSNP
VAR_000681	p.Gly14Ser	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt
RCV000006696	p.Gly14Ser	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452268G>A	ClinVar
RCV000006703	p.Ser18Leu	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452281C>T	ClinVar
rs121908643	p.Ser18Leu	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt,dbSNP
VAR_000682	p.Ser18Leu	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt
rs121908643	p.Ser18Leu	missense variant	-	NC_000009.12:g.130452281C>T	ExAC,gnomAD
VAR_015891	p.Cys19Arg	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs762279472	p.Val22Leu	missense variant	-	NC_000009.12:g.130452292G>T	NCI-TCGA,NCI-TCGA Cosmic
rs762279472	p.Val22Leu	missense variant	-	NC_000009.12:g.130452292G>C	ExAC,TOPMed,gnomAD
rs912037125	p.Val22Gly	missense variant	-	NC_000009.12:g.130452293T>G	TOPMed,gnomAD
rs762279472	p.Val22Met	missense variant	-	NC_000009.12:g.130452292G>A	ExAC,TOPMed,gnomAD
rs762279472	p.Val22Leu	missense variant	-	NC_000009.12:g.130452292G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp23Leu	missense variant	-	NC_000009.12:g.130452296G>T	NCI-TCGA
rs1175810875	p.Trp23Ter	stop gained	-	NC_000009.12:g.130452297G>A	TOPMed
rs766668660	p.Glu26Lys	missense variant	-	NC_000009.12:g.130452304G>A	ExAC,gnomAD
rs766668660	p.Glu26Lys	missense variant	-	NC_000009.12:g.130452304G>A	NCI-TCGA
rs543339767	p.Gln27Lys	missense variant	-	NC_000009.12:g.130452307C>A	1000Genomes,ExAC,TOPMed,gnomAD
VAR_078387	p.Gln27_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1457270102	p.Tyr29Cys	missense variant	-	NC_000009.12:g.130452314A>G	TOPMed,gnomAD
rs758038108	p.Asp30Asn	missense variant	-	NC_000009.12:g.130452316G>A	ExAC,TOPMed,gnomAD
rs758038108	p.Asp30Tyr	missense variant	-	NC_000009.12:g.130452316G>T	ExAC,TOPMed,gnomAD
rs374444560	p.Val31Ile	missense variant	-	NC_000009.12:g.130452319G>A	ESP,ExAC,TOPMed,gnomAD
rs1313069512	p.Ile32Thr	missense variant	-	NC_000009.12:g.130452323T>C	gnomAD
rs142221856	p.Ile32Val	missense variant	-	NC_000009.12:g.130452322A>G	ESP,TOPMed
rs1479796639	p.Ala36Asp	missense variant	-	NC_000009.12:g.130454306C>A	gnomAD
NCI-TCGA novel	p.Ala36Val	missense variant	-	NC_000009.12:g.130454306C>T	NCI-TCGA
rs1412223944	p.Asn37Ser	missense variant	-	NC_000009.12:g.130454309A>G	TOPMed
rs1176198275	p.Ile38Val	missense variant	-	NC_000009.12:g.130454311A>G	gnomAD
rs751131164	p.Gln40His	missense variant	-	NC_000009.12:g.130454319G>C	ExAC
VAR_058337	p.Gln40Leu	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000633523	p.Lys41Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454319del	ClinVar
rs1460136199	p.Glu42Lys	missense variant	-	NC_000009.12:g.130454323G>A	gnomAD
rs1167026676	p.Asp43His	missense variant	-	NC_000009.12:g.130454326G>C	gnomAD
rs766880501	p.Glu45Lys	missense variant	-	NC_000009.12:g.130454332G>A	ExAC,TOPMed,gnomAD
rs1301161301	p.Ala47Val	missense variant	-	NC_000009.12:g.130454339C>T	gnomAD
rs374695792	p.Arg48Gly	missense variant	-	NC_000009.12:g.130454341A>G	ESP,ExAC,TOPMed,gnomAD
rs142350255	p.Ala51Thr	missense variant	-	NC_000009.12:g.130454350G>A	ESP,ExAC,TOPMed
RCV000701082	p.Leu54Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454359C>G	ClinVar
rs773150312	p.Ala56Thr	missense variant	-	NC_000009.12:g.130454365G>A	ExAC,TOPMed,gnomAD
rs779222693	p.Lys57Glu	missense variant	-	NC_000009.12:g.130454368A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys58ArgPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.130454368A>-	NCI-TCGA
rs1390986372	p.Val59Met	missense variant	-	NC_000009.12:g.130458401G>A	gnomAD
RCV000668829	p.Val59Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454372dup	ClinVar
rs746316364	p.Phe60Cys	missense variant	-	NC_000009.12:g.130458405T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe60Leu	missense variant	-	NC_000009.12:g.130458406C>A	NCI-TCGA
rs769314825	p.Ile61Thr	missense variant	-	NC_000009.12:g.130458408T>C	ExAC,TOPMed,gnomAD
rs1423131094	p.Ile61Val	missense variant	-	NC_000009.12:g.130458407A>G	TOPMed
rs1230404130	p.Glu62Lys	missense variant	-	NC_000009.12:g.130458410G>A	TOPMed,gnomAD
COSM487122	p.Val64Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130458416G>T	NCI-TCGA Cosmic
RCV000669936	p.Val64Ile	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458416G>A	ClinVar
rs556297791	p.Val64Ile	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt,dbSNP
VAR_078388	p.Val64Ile	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt
rs556297791	p.Val64Ile	missense variant	-	NC_000009.12:g.130458416G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser65Asn	missense variant	-	NC_000009.12:g.130458420G>A	NCI-TCGA
rs1257036291	p.Glu67Lys	missense variant	-	NC_000009.12:g.130458425G>A	TOPMed
rs771594651	p.Val69Ala	missense variant	-	NC_000009.12:g.130458432T>C	ExAC,gnomAD
rs771594651	p.Val69Ala	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt,dbSNP
VAR_016013	p.Val69Ala	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt
rs1554982824	p.Phe72Leu	missense variant	-	NC_000009.12:g.130458442C>G	-
RCV000666531	p.Phe72Leu	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458442C>G	ClinVar
rs760286858	p.Pro75Leu	missense variant	-	NC_000009.12:g.130458450C>T	ExAC,TOPMed,gnomAD
RCV000411227	p.Ala76Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458452del	ClinVar
rs776718909	p.Ile77Phe	missense variant	-	NC_000009.12:g.130458455A>T	ExAC,gnomAD
VAR_058338	p.Ser79Pro	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000303779	p.Ala81Thr	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458467G>A	ClinVar
rs764329260	p.Ala81Val	missense variant	-	NC_000009.12:g.130458468C>T	ExAC,gnomAD
rs141640176	p.Ala81Thr	missense variant	-	NC_000009.12:g.130458467G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs559043503	p.Leu82Pro	missense variant	-	NC_000009.12:g.130458471T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753659761	p.Tyr83His	missense variant	-	NC_000009.12:g.130458473T>C	ExAC,gnomAD
rs1554982834	p.Glu84Lys	missense variant	-	NC_000009.12:g.130458476G>A	-
RCV000533818	p.Glu84Lys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458476G>A	ClinVar
COSM6182786	p.Asp85Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130458479G>T	NCI-TCGA Cosmic
RCV000256238	p.Arg86His	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458483G>A	ClinVar
rs575001023	p.Arg86His	missense variant	-	NC_000009.12:g.130458483G>A	ExAC,gnomAD
RCV000006704	p.Arg86Cys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458482C>T	ClinVar
rs121908644	p.Arg86Cys	missense variant	-	NC_000009.12:g.130458482C>T	ESP,ExAC,TOPMed,gnomAD
rs121908644	p.Arg86Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt,dbSNP
VAR_000683	p.Arg86Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt
rs780509094	p.Tyr87Phe	missense variant	-	NC_000009.12:g.130458486A>T	ExAC,gnomAD
RCV000527150	p.Leu88Ile	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458488C>A	ClinVar
rs895822620	p.Leu88Ile	missense variant	-	NC_000009.12:g.130458488C>A	TOPMed,gnomAD
rs895822620	p.Leu88Phe	missense variant	-	NC_000009.12:g.130458488C>T	TOPMed,gnomAD
rs1277427690	p.Leu89Val	missense variant	-	NC_000009.12:g.130458491C>G	gnomAD
rs1422867920	p.Gly90Asp	missense variant	-	NC_000009.12:g.130458495G>A	TOPMed,gnomAD
rs769018733	p.Thr91Pro	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt,dbSNP
VAR_078389	p.Thr91Pro	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt
rs769018733	p.Thr91Pro	missense variant	-	NC_000009.12:g.130458497A>C	ExAC,gnomAD
rs773015306	p.Ser92Phe	missense variant	-	NC_000009.12:g.130458501C>T	ExAC,gnomAD
VAR_015893	p.Arg95Ser	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_058339	p.Pro96His	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_078390	p.Pro96Leu	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_015894	p.Pro96Ser	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000670815	p.Cys97Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458517C>A	ClinVar
rs1230950318	p.Cys97Ser	missense variant	-	NC_000009.12:g.130458516G>C	gnomAD
rs1554982847	p.Cys97Ter	stop gained	-	NC_000009.12:g.130458517C>A	-
VAR_078391	p.Cys97_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs746597456	p.Ile98Val	missense variant	-	NC_000009.12:g.130458518A>G	ExAC,gnomAD
rs150466363	p.Ala99Thr	missense variant	-	NC_000009.12:g.130458521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000669776	p.Arg100His	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458525G>A	ClinVar
RCV000508525	p.Arg100His	missense variant	-	NC_000009.12:g.130458525G>A	ClinVar
RCV000669448	p.Arg100Cys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458524C>T	ClinVar
rs138279074	p.Arg100His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt,dbSNP
VAR_078393	p.Arg100His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt
rs138279074	p.Arg100His	missense variant	-	NC_000009.12:g.130458525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370695114	p.Arg100Cys	missense variant	-	NC_000009.12:g.130458524C>T	ESP,ExAC,TOPMed,gnomAD
rs370695114	p.Arg100Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt,dbSNP
VAR_078392	p.Arg100Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt
NCI-TCGA novel	p.Gln102Glu	missense variant	-	NC_000009.12:g.130458530C>G	NCI-TCGA
COSM3654878	p.Glu104Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130458536G>A	NCI-TCGA Cosmic
rs762677536	p.Ala106Thr	missense variant	-	NC_000009.12:g.130458542G>A	ExAC,gnomAD
rs763817750	p.Ala106Gly	missense variant	-	NC_000009.12:g.130458543C>G	ExAC,TOPMed,gnomAD
rs149602848	p.Gln107Arg	missense variant	-	NC_000009.12:g.130458546A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln107Ter	stop gained	-	NC_000009.12:g.130458545C>T	NCI-TCGA
RCV000695591	p.Gln107Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458545del	ClinVar
rs143405567	p.Arg108Trp	missense variant	-	NC_000009.12:g.130458548C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000436562	p.Arg108Leu	missense variant	-	NC_000009.12:g.130458549G>T	ClinVar
rs35269064	p.Arg108Gln	missense variant	-	NC_000009.12:g.130458549G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35269064	p.Arg108Leu	missense variant	-	NC_000009.12:g.130458549G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35269064	p.Arg108Leu	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt,dbSNP
VAR_016014	p.Arg108Leu	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt
rs371907747	p.Glu109Lys	missense variant	-	NC_000009.12:g.130458551G>A	ESP,ExAC,gnomAD
rs962458695	p.Glu109Val	missense variant	-	NC_000009.12:g.130458552A>T	TOPMed
VAR_078394	p.Ala111Asp	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs146176455	p.Tyr113Cys	missense variant	-	NC_000009.12:g.130458564A>G	ESP,ExAC,gnomAD
rs779412497	p.Val114Met	missense variant	-	NC_000009.12:g.130458566G>A	ExAC,gnomAD
rs770944877	p.Gly117Ser	missense variant	-	NC_000009.12:g.130458575G>A	ExAC,TOPMed,gnomAD
rs770944877	p.Gly117Ser	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt,dbSNP
VAR_015895	p.Gly117Ser	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt
RCV000671967	p.Gly117Ser	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458575G>A	ClinVar
rs745404241	p.Gly117Val	missense variant	-	NC_000009.12:g.130458576G>T	ExAC,gnomAD
VAR_078395	p.Gly117Cys	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_015896	p.Gly117Asp	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs775305020	p.Ala118Thr	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt,dbSNP
VAR_000684	p.Ala118Thr	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt
rs775305020	p.Ala118Thr	missense variant	-	NC_000009.12:g.130458578G>A	ExAC,TOPMed,gnomAD
rs794727696	p.Thr119Pro	missense variant	-	NC_000009.12:g.130458581A>C	-
RCV000178706	p.Thr119Pro	missense variant	-	NC_000009.12:g.130458581A>C	ClinVar
VAR_016015	p.Thr119Ile	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
COSM4894240	p.Gly122Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130464112G>A	NCI-TCGA Cosmic
rs761616623	p.Asn123Lys	missense variant	-	NC_000009.12:g.130464116C>A	ExAC,TOPMed,gnomAD
RCV000552381	p.Asp124Asn	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464117G>A	ClinVar
rs936192871	p.Asp124Asn	missense variant	-	NC_000009.12:g.130464117G>A	gnomAD
COSM3904777	p.Gln125Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130464121A>G	NCI-TCGA Cosmic
RCV000665366	p.Arg127Leu	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>T	ClinVar
RCV000761475	p.Arg127Gln	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>A	ClinVar
rs201623252	p.Arg127Leu	missense variant	-	NC_000009.12:g.130464127G>T	1000Genomes,ExAC,gnomAD
rs201623252	p.Arg127Leu	missense variant	-	NC_000009.12:g.130464127G>T	UniProt,dbSNP
VAR_078396	p.Arg127Leu	missense variant	-	NC_000009.12:g.130464127G>T	UniProt
rs771794639	p.Arg127Trp	missense variant	-	NC_000009.12:g.130464126C>T	ExAC,TOPMed,gnomAD
rs201623252	p.Arg127Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt,dbSNP
VAR_058341	p.Arg127Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt
rs201623252	p.Arg127Gln	missense variant	-	NC_000009.12:g.130464127G>A	1000Genomes,ExAC,gnomAD
RCV000668864	p.Arg127Trp	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464126C>T	ClinVar
rs1226547650	p.Phe128Leu	missense variant	-	NC_000009.12:g.130464131T>G	gnomAD
rs1465454336	p.Ser131Gly	missense variant	-	NC_000009.12:g.130464138A>G	gnomAD
rs776754303	p.Ala136Ser	missense variant	-	NC_000009.12:g.130464153G>T	ExAC,TOPMed,gnomAD
rs760164246	p.Ala136Val	missense variant	-	NC_000009.12:g.130464154C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln138ProPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.130464153_130464154insC	NCI-TCGA
NCI-TCGA novel	p.Gln138ArgPheSerTerUnk	frameshift	-	NC_000009.12:g.130464154C>-	NCI-TCGA
RCV000409826	p.Gln138Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159C>T	ClinVar
rs1057516339	p.Gln138Ter	stop gained	-	NC_000009.12:g.130464159C>T	-
RCV000665132	p.Gln138Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159dup	ClinVar
VAR_078397	p.Gln138_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1401148533	p.Ile139Met	missense variant	-	NC_000009.12:g.130464164A>G	TOPMed
rs1184442048	p.Val141Gly	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt,dbSNP
VAR_072792	p.Val141Gly	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt
rs1184442048	p.Val141Gly	missense variant	-	NC_000009.12:g.130466726T>G	TOPMed
NCI-TCGA novel	p.Pro144Arg	missense variant	-	NC_000009.12:g.130466735C>G	NCI-TCGA
rs769831651	p.Pro144Ser	missense variant	-	NC_000009.12:g.130466734C>T	ExAC,TOPMed,gnomAD
rs1015400282	p.Arg146Lys	missense variant	-	NC_000009.12:g.130466741G>A	-
NCI-TCGA novel	p.Met147Thr	missense variant	-	NC_000009.12:g.130466744T>C	NCI-TCGA
rs369389991	p.Pro148Ser	missense variant	-	NC_000009.12:g.130466746C>T	ESP,ExAC,TOPMed,gnomAD
rs1251662364	p.Glu149Lys	missense variant	-	NC_000009.12:g.130466749G>A	TOPMed
RCV000169436	p.Phe150Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466754_130466755del	ClinVar
rs754486641	p.Tyr151Ser	missense variant	-	NC_000009.12:g.130466756A>C	ExAC,TOPMed,gnomAD
RCV000364188	p.Arg153Gln	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466762G>A	ClinVar
rs576636333	p.Arg153Trp	missense variant	-	NC_000009.12:g.130466761C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373239430	p.Arg153Leu	missense variant	-	NC_000009.12:g.130466762G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373239430	p.Arg153Gln	missense variant	-	NC_000009.12:g.130466762G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000780873	p.Phe154Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466764_130466771del	ClinVar
rs746855701	p.Lys155Glu	missense variant	-	NC_000009.12:g.130466767A>G	ExAC,gnomAD
rs960633659	p.Lys155Arg	missense variant	-	NC_000009.12:g.130466768A>G	TOPMed
RCV000259104	p.Arg157His	missense variant	-	NC_000009.12:g.130466774G>A	ClinVar
rs121908637	p.Arg157His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt,dbSNP
VAR_000685	p.Arg157His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt
rs770585183	p.Arg157Cys	missense variant	-	NC_000009.12:g.130466773C>T	ExAC,gnomAD
rs770585183	p.Arg157Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt,dbSNP
VAR_015897	p.Arg157Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt
rs121908637	p.Arg157His	missense variant	-	NC_000009.12:g.130466774G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAR_078398	p.Arg157Ser	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs770066903	p.Asn158Ser	missense variant	-	NC_000009.12:g.130466777A>G	ExAC,gnomAD
rs1199062770	p.Asn158Asp	missense variant	-	NC_000009.12:g.130466776A>G	gnomAD
NCI-TCGA novel	p.Asp159Asn	missense variant	-	NC_000009.12:g.130466779G>A	NCI-TCGA
rs775699839	p.Met161Leu	missense variant	-	NC_000009.12:g.130466785A>T	ExAC,gnomAD
rs377319610	p.Tyr163Ter	stop gained	-	NC_000009.12:g.130466793C>A	ESP,ExAC,TOPMed,gnomAD
rs1167697513	p.Tyr163Cys	missense variant	-	NC_000009.12:g.130466792A>G	gnomAD
VAR_078399	p.Tyr163_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs201445618	p.Ala164Ser	missense variant	-	NC_000009.12:g.130466794G>T	TOPMed,gnomAD
rs201445618	p.Ala164Thr	missense variant	-	NC_000009.12:g.130466794G>A	TOPMed,gnomAD
VAR_078400	p.Ala164Pro	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs577627504	p.His167Arg	missense variant	-	NC_000009.12:g.130470838A>G	1000Genomes
rs978412155	p.His167Tyr	missense variant	-	NC_000009.12:g.130470837C>T	TOPMed
rs763449750	p.Gly168Arg	missense variant	-	NC_000009.12:g.130470840G>A	ExAC,gnomAD
rs763449750	p.Gly168Arg	missense variant	-	NC_000009.12:g.130470840G>C	ExAC,gnomAD
RCV000315185	p.Pro172Leu	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470853C>T	ClinVar
rs372078387	p.Pro172Arg	missense variant	-	NC_000009.12:g.130470853C>G	ESP,ExAC,TOPMed,gnomAD
rs372078387	p.Pro172Leu	missense variant	-	NC_000009.12:g.130470853C>T	ESP,ExAC,TOPMed,gnomAD
rs911748539	p.Val173Leu	missense variant	-	NC_000009.12:g.130470855G>C	TOPMed,gnomAD
rs911748539	p.Val173Ile	missense variant	-	NC_000009.12:g.130470855G>A	TOPMed,gnomAD
rs911748539	p.Val173Phe	missense variant	-	NC_000009.12:g.130470855G>T	TOPMed,gnomAD
rs755924197	p.Lys176Arg	missense variant	-	NC_000009.12:g.130470865A>G	ExAC,TOPMed,gnomAD
rs1207643091	p.Lys176Glu	missense variant	-	NC_000009.12:g.130470864A>G	gnomAD
rs780436694	p.Asn177Ser	missense variant	-	NC_000009.12:g.130470868A>G	ExAC,gnomAD
rs768846877	p.Pro178Leu	missense variant	-	NC_000009.12:g.130470871C>T	ExAC,TOPMed,gnomAD
RCV000256312	p.Trp179Arg	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470873T>C	ClinVar
RCV000291508	p.Trp179Arg	missense variant	-	NC_000009.12:g.130470873T>C	ClinVar
RCV000006707	p.Trp179Arg	missense variant	Citrullinemia, mild	NC_000009.12:g.130470873T>C	ClinVar
rs121908646	p.Trp179Arg	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt,dbSNP
VAR_015898	p.Trp179Arg	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt
rs121908646	p.Trp179Arg	missense variant	-	NC_000009.12:g.130470873T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1409764603	p.Trp179Cys	missense variant	-	NC_000009.12:g.130470875G>C	gnomAD
RCV000529881	p.Ser180Ile	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470877G>T	ClinVar
rs121908638	p.Ser180Ile	missense variant	-	NC_000009.12:g.130470877G>T	ExAC,TOPMed,gnomAD
RCV000185782	p.Ser180Asn	missense variant	-	NC_000009.12:g.130470877G>A	ClinVar
rs121908638	p.Ser180Ile	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt,dbSNP
VAR_078401	p.Ser180Ile	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt
rs1456790094	p.Ser180Cys	missense variant	-	NC_000009.12:g.130470876A>T	gnomAD
rs121908638	p.Ser180Asn	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt,dbSNP
VAR_000686	p.Ser180Asn	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt
rs121908638	p.Ser180Asn	missense variant	-	NC_000009.12:g.130470877G>A	ExAC,TOPMed,gnomAD
rs1391150004	p.Met181Val	missense variant	-	NC_000009.12:g.130470879A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp182Asn	missense variant	-	NC_000009.12:g.130470882G>A	NCI-TCGA
rs773665483	p.Glu183Lys	missense variant	-	NC_000009.12:g.130470885G>A	ExAC
rs368192467	p.Asn184Lys	missense variant	-	NC_000009.12:g.130470890C>A	ESP,ExAC,TOPMed,gnomAD
rs368192467	p.Asn184Lys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt,dbSNP
VAR_078402	p.Asn184Lys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt
rs775215941	p.Leu185His	missense variant	-	NC_000009.12:g.130470892T>A	ExAC
rs1380426442	p.Met186Ile	missense variant	-	NC_000009.12:g.130470896G>A	gnomAD
RCV000779573	p.Met186Arg	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470895T>G	ClinVar
NCI-TCGA novel	p.Ile188Met	missense variant	-	NC_000009.12:g.130470902C>G	NCI-TCGA
rs762510847	p.Ile188Val	missense variant	-	NC_000009.12:g.130470900A>G	ExAC,gnomAD
rs752862441	p.Tyr190His	missense variant	-	NC_000009.12:g.130471486T>C	ExAC,TOPMed,gnomAD
VAR_058344	p.Tyr190Asp	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs777828000	p.Glu191Lys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt,dbSNP
VAR_015899	p.Glu191Lys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt
rs777828000	p.Glu191Lys	missense variant	-	NC_000009.12:g.130471489G>A	ExAC,TOPMed,gnomAD
RCV000190357	p.Glu191Lys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471489G>A	ClinVar
VAR_058345	p.Glu191Gln	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs568893606	p.Ala192Thr	missense variant	-	NC_000009.12:g.130471492G>A	1000Genomes
VAR_000687	p.Ala192Val	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1311437424	p.Gly193Arg	missense variant	-	NC_000009.12:g.130471495G>A	TOPMed
RCV000702722	p.Gly193Arg	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471495G>A	ClinVar
RCV000824287	p.Leu195Pro	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471502T>C	ClinVar
rs796051936	p.Leu195Pro	missense variant	-	NC_000009.12:g.130471502T>C	-
rs1430947504	p.Glu196Ala	missense variant	-	NC_000009.12:g.130471505A>C	gnomAD
rs1331462223	p.Asn197Ser	missense variant	-	NC_000009.12:g.130471508A>G	gnomAD
rs1355715277	p.Asn197Lys	missense variant	-	NC_000009.12:g.130471509C>A	gnomAD
rs781652117	p.Pro198Leu	missense variant	-	NC_000009.12:g.130471511C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro198Ser	missense variant	-	NC_000009.12:g.130471510C>T	NCI-TCGA
rs764078809	p.Lys199Arg	missense variant	-	NC_000009.12:g.130471514A>G	TOPMed,gnomAD
rs750874679	p.Asn200Lys	missense variant	-	NC_000009.12:g.130476873C>A	ExAC,gnomAD
rs563922134	p.Gln201Glu	missense variant	-	NC_000009.12:g.130476874C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000796571	p.Ala202Glu	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130476878C>A	ClinVar
RCV000259040	p.Ala202Glu	missense variant	-	NC_000009.12:g.130476878C>A	ClinVar
rs376371866	p.Ala202Glu	missense variant	-	NC_000009.12:g.130476878C>A	ESP,ExAC,TOPMed,gnomAD
rs376371866	p.Ala202Val	missense variant	-	NC_000009.12:g.130476878C>T	ESP,ExAC,TOPMed,gnomAD
rs147858743	p.Pro203Thr	missense variant	-	NC_000009.12:g.130476880C>A	ESP,ExAC,TOPMed,gnomAD
rs1477093617	p.Pro203Leu	missense variant	-	NC_000009.12:g.130476881C>T	gnomAD
rs746536193	p.Gly205Ser	missense variant	-	NC_000009.12:g.130476886G>A	ExAC,gnomAD
VAR_058347	p.Leu206Pro	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs776441071	p.Thr208Arg	missense variant	-	NC_000009.12:g.130476896C>G	ExAC,TOPMed,gnomAD
rs776441071	p.Thr208Met	missense variant	-	NC_000009.12:g.130476896C>T	ExAC,TOPMed,gnomAD
rs62637575	p.Thr208Ala	missense variant	-	NC_000009.12:g.130476895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys209Asn	missense variant	-	NC_000009.12:g.130476900G>T	NCI-TCGA
rs1486449199	p.Pro213Gln	missense variant	-	NC_000009.12:g.130476911C>A	TOPMed
NCI-TCGA novel	p.Pro213Ala	missense variant	-	NC_000009.12:g.130476910C>G	NCI-TCGA
rs1462611440	p.Lys215Ile	missense variant	-	NC_000009.12:g.130476917A>T	gnomAD
NCI-TCGA novel	p.Ala216Thr	missense variant	-	NC_000009.12:g.130476919G>A	NCI-TCGA
rs1156471881	p.Ala216Ser	missense variant	-	NC_000009.12:g.130476919G>T	gnomAD
rs1043964127	p.Ala216Asp	missense variant	-	NC_000009.12:g.130476920C>A	gnomAD
rs1280678606	p.Thr219Ala	missense variant	-	NC_000009.12:g.130476928A>G	TOPMed
rs769538241	p.Thr219Asn	missense variant	-	NC_000009.12:g.130476929C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu223Val	missense variant	-	NC_000009.12:g.130476940C>G	NCI-TCGA
rs764331417	p.Glu224Lys	missense variant	-	NC_000009.12:g.130476943G>A	ExAC,gnomAD
rs761813681	p.Glu226Lys	missense variant	-	NC_000009.12:g.130476949G>A	ExAC,gnomAD
rs767628546	p.Glu226Val	missense variant	-	NC_000009.12:g.130476950A>T	ExAC,gnomAD
RCV000490502	p.Gly230Ala	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479716G>C	ClinVar
rs1085307056	p.Gly230Ala	missense variant	-	NC_000009.12:g.130479716G>C	TOPMed
VAR_078403	p.Gly230Arg	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1397280585	p.Val231Ile	missense variant	-	NC_000009.12:g.130479718G>A	TOPMed,gnomAD
rs1397280585	p.Val231Phe	missense variant	-	NC_000009.12:g.130479718G>T	TOPMed,gnomAD
rs1321789086	p.Pro232Ser	missense variant	-	NC_000009.12:g.130479721C>T	TOPMed,gnomAD
COSM3904780	p.Val235Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479731T>C	NCI-TCGA Cosmic
rs745415384	p.Thr236Ala	missense variant	-	NC_000009.12:g.130479733A>G	ExAC,gnomAD
rs565520844	p.Asn237Ser	missense variant	-	NC_000009.12:g.130479737A>G	1000Genomes,ExAC,TOPMed,gnomAD
VAR_078404	p.Asn237Ile	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs368414392	p.Val238Ile	missense variant	-	NC_000009.12:g.130479739G>A	ESP,ExAC,TOPMed,gnomAD
COSM289637	p.Lys239Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479744G>T	NCI-TCGA Cosmic
COSM3654883	p.Asp240Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479745G>A	NCI-TCGA Cosmic
rs1480656634	p.Asp240His	missense variant	-	NC_000009.12:g.130479745G>C	gnomAD
COSM3904781	p.Gly241Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479749G>A	NCI-TCGA Cosmic
rs1266978229	p.Gly241Ser	missense variant	-	NC_000009.12:g.130479748G>A	gnomAD
NCI-TCGA novel	p.Thr243Asn	missense variant	-	NC_000009.12:g.130479755C>A	NCI-TCGA
rs1447491328	p.Leu248Phe	missense variant	-	NC_000009.12:g.130479771G>T	TOPMed,gnomAD
rs748358908	p.Glu249Gly	missense variant	-	NC_000009.12:g.130479773A>G	ExAC,gnomAD
rs772369785	p.Leu250Phe	missense variant	-	NC_000009.12:g.130479775C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe251Ser	missense variant	-	NC_000009.12:g.130479779T>C	NCI-TCGA
rs760818666	p.Met252Thr	missense variant	-	NC_000009.12:g.130479782T>C	ExAC,TOPMed,gnomAD
rs74923032	p.Glu256Lys	missense variant	-	NC_000009.12:g.130479793G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000224618	p.Glu256Lys	missense variant	-	NC_000009.12:g.130479793G>A	ClinVar
RCV000669784	p.Ala258Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479800C>T	ClinVar
rs765748014	p.Ala258Thr	missense variant	-	NC_000009.12:g.130479799G>A	ExAC,TOPMed,gnomAD
rs753078725	p.Ala258Val	missense variant	-	NC_000009.12:g.130479800C>T	ExAC,TOPMed,gnomAD
rs753078725	p.Ala258Val	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt,dbSNP
VAR_078406	p.Ala258Val	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt
VAR_078405	p.Ala258Pro	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
COSM1701820	p.Gly259Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130480386G>A	NCI-TCGA Cosmic
rs567807132	p.Gly259Val	missense variant	-	NC_000009.12:g.130480387G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1193243645	p.Lys260Arg	missense variant	-	NC_000009.12:g.130480390A>G	TOPMed,gnomAD
rs749349212	p.His261Arg	missense variant	-	NC_000009.12:g.130480393A>G	ExAC
rs1254010338	p.Gly262Ser	missense variant	-	NC_000009.12:g.130480395G>A	gnomAD
rs192838388	p.Val263Met	missense variant	-	NC_000009.12:g.130480398G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000185783	p.Val263Met	missense variant	-	NC_000009.12:g.130480398G>A	ClinVar
rs148918985	p.Arg265Cys	missense variant	-	NC_000009.12:g.130480404C>T	ESP,ExAC,TOPMed,gnomAD
rs148918985	p.Arg265Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt,dbSNP
VAR_058349	p.Arg265Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt
RCV000078025	p.Arg265Cys	missense variant	-	NC_000009.12:g.130480404C>T	ClinVar
RCV000723811	p.Arg265His	missense variant	-	NC_000009.12:g.130480405G>A	ClinVar
rs398123131	p.Arg265His	missense variant	-	NC_000009.12:g.130480405G>A	TOPMed,gnomAD
rs398123131	p.Arg265His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt,dbSNP
VAR_015900	p.Arg265His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt
rs377221825	p.Ile266Val	missense variant	-	NC_000009.12:g.130480407A>G	ESP,ExAC,TOPMed,gnomAD
rs1465173093	p.Asp267Gly	missense variant	-	NC_000009.12:g.130480411A>G	TOPMed
rs773540764	p.Ile268Met	missense variant	-	NC_000009.12:g.130480415C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile268SerPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.130480413_130480414insG	NCI-TCGA
RCV000412912	p.Val269Met	missense variant	-	NC_000009.12:g.130480416G>A	ClinVar
RCV000174211	p.Val269Met	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480416G>A	ClinVar
rs370595480	p.Val269Met	missense variant	-	NC_000009.12:g.130480416G>A	ESP,ExAC,TOPMed,gnomAD
rs370595480	p.Val269Met	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt,dbSNP
VAR_015901	p.Val269Met	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt
RCV000673280	p.Glu270Gln	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480419G>C	ClinVar
rs775163147	p.Glu270Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt,dbSNP
VAR_016007	p.Glu270Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt
rs775163147	p.Glu270Gln	missense variant	-	NC_000009.12:g.130480419G>C	ExAC,gnomAD
RCV000409266	p.Arg272Cys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480425C>T	ClinVar
rs768215008	p.Arg272Leu	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt,dbSNP
VAR_078408	p.Arg272Leu	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt
rs768215008	p.Arg272Leu	missense variant	-	NC_000009.12:g.130480426G>T	ExAC,TOPMed,gnomAD
rs762387914	p.Arg272Cys	missense variant	-	NC_000009.12:g.130480425C>T	ExAC,gnomAD
rs762387914	p.Arg272Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt,dbSNP
VAR_000688	p.Arg272Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt
rs768215008	p.Arg272His	missense variant	-	NC_000009.12:g.130480426G>A	ExAC,TOPMed,gnomAD
rs768215008	p.Arg272His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt,dbSNP
VAR_078407	p.Arg272His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt
COSM3654885	p.Gly275Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130480435G>A	NCI-TCGA Cosmic
rs1554723625	p.Gly275Ter	stop gained	-	NC_000009.12:g.130480434G>T	-
RCV000673813	p.Gly275Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480434G>T	ClinVar
VAR_078409	p.Gly275_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1365759588	p.Met276Thr	missense variant	-	NC_000009.12:g.130480438T>C	TOPMed,gnomAD
VAR_058350	p.Lys277Thr	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000723467	p.Arg279Gln	missense variant	-	NC_000009.12:g.130480447G>A	ClinVar
rs121908645	p.Arg279Ter	stop gained	-	NC_000009.12:g.130480446C>T	ESP,ExAC,TOPMed,gnomAD
rs371265106	p.Arg279Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt,dbSNP
VAR_016008	p.Arg279Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt
rs371265106	p.Arg279Gln	missense variant	-	NC_000009.12:g.130480447G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg279Pro	missense variant	-	NC_000009.12:g.130480447G>C	NCI-TCGA
RCV000006705	p.Arg279Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480446C>T	ClinVar
VAR_078410	p.Arg279_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs767470664	p.Gly280Ser	missense variant	-	NC_000009.12:g.130480449G>A	ExAC,gnomAD
rs754062242	p.Gly280Val	missense variant	-	NC_000009.12:g.130489333G>T	ExAC,gnomAD
RCV000543848	p.Gly280Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489333G>T	ClinVar
rs754062242	p.Gly280Ala	missense variant	-	NC_000009.12:g.130489333G>C	ExAC,gnomAD
VAR_000689	p.Gly280Arg	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
COSM5979787	p.Ile281Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130489337C>G	NCI-TCGA Cosmic
rs549085827	p.Tyr282Ter	stop gained	-	NC_000009.12:g.130489340C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000493705	p.Glu283Lys	missense variant	-	NC_000009.12:g.130489341G>A	ClinVar
RCV000672066	p.Glu283Lys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489341G>A	ClinVar
rs765338121	p.Glu283Lys	missense variant	-	NC_000009.12:g.130489341G>A	ExAC,TOPMed,gnomAD
rs765338121	p.Glu283Lys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt,dbSNP
VAR_015902	p.Glu283Lys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt
rs886039853	p.Thr284Ile	missense variant	-	NC_000009.12:g.130489345C>T	gnomAD
RCV000256276	p.Thr284Ile	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489345C>T	ClinVar
rs1313489293	p.Pro285Gln	missense variant	-	NC_000009.12:g.130489348C>A	TOPMed,gnomAD
rs1414109637	p.Pro285Ser	missense variant	-	NC_000009.12:g.130489347C>T	gnomAD
COSM1460494	p.Ala286Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130489350G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly287Cys	missense variant	-	NC_000009.12:g.130489353G>T	NCI-TCGA
rs1237139147	p.Gly287Ser	missense variant	-	NC_000009.12:g.130489353G>A	gnomAD
VAR_078411	p.Leu290Pro	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_058352	p.Tyr291Ser	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1043724459	p.His292Tyr	missense variant	-	NC_000009.12:g.130489368C>T	TOPMed
rs1433075371	p.Ala293Val	missense variant	-	NC_000009.12:g.130489372C>T	TOPMed
rs1225791024	p.Ala293Thr	missense variant	-	NC_000009.12:g.130489371G>A	gnomAD
rs1278663122	p.Leu295Ter	stop gained	-	NC_000009.12:g.130489378T>G	gnomAD
rs752042210	p.Asp296Val	missense variant	-	NC_000009.12:g.130489381A>T	ExAC,gnomAD
VAR_058353	p.Asp296Gly	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1257594301	p.Ile297Thr	missense variant	-	NC_000009.12:g.130489384T>C	TOPMed,gnomAD
rs757629975	p.Ile297Val	missense variant	-	NC_000009.12:g.130489383A>G	ExAC,gnomAD
RCV000169181	p.Glu298Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489386del	ClinVar
rs201419685	p.Glu298Asp	missense variant	-	NC_000009.12:g.130489388G>C	ExAC,gnomAD
rs1372482894	p.Glu298Lys	missense variant	-	NC_000009.12:g.130489386G>A	TOPMed
rs372061654	p.Glu298Gly	missense variant	-	NC_000009.12:g.130489387A>G	ESP,ExAC,TOPMed,gnomAD
RCV000078029	p.Glu298Gly	missense variant	-	NC_000009.12:g.130489387A>G	ClinVar
NCI-TCGA novel	p.Ala299Val	missense variant	-	NC_000009.12:g.130489390C>T	NCI-TCGA
rs768394647	p.Ala299Asp	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt,dbSNP
VAR_078412	p.Ala299Asp	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt
rs768394647	p.Ala299Asp	missense variant	-	NC_000009.12:g.130489390C>A	ExAC,TOPMed,gnomAD
rs778658154	p.Thr301Ala	missense variant	-	NC_000009.12:g.130489395A>G	ExAC,gnomAD
VAR_058354	p.Met302Val	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000723845	p.Arg304Trp	missense variant	-	NC_000009.12:g.130489404C>T	ClinVar
RCV000006702	p.Arg304Trp	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489404C>T	ClinVar
rs771640767	p.Arg304Pro	missense variant	-	NC_000009.12:g.130489405G>C	ExAC,TOPMed,gnomAD
rs121908642	p.Arg304Trp	missense variant	-	NC_000009.12:g.130489404C>T	ExAC,TOPMed,gnomAD
rs121908642	p.Arg304Trp	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt,dbSNP
VAR_000690	p.Arg304Trp	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt
rs771640767	p.Arg304Gln	missense variant	-	NC_000009.12:g.130489405G>A	ExAC,TOPMed,gnomAD
RCV000078030	p.Glu305Val	missense variant	-	NC_000009.12:g.130489408A>T	ClinVar
rs398123132	p.Glu305Val	missense variant	-	NC_000009.12:g.130489408A>T	-
VAR_078413	p.Val306Gly	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000727599	p.Arg307His	missense variant	-	NC_000009.12:g.130489414G>A	ClinVar
RCV000255358	p.Arg307Cys	missense variant	-	NC_000009.12:g.130489413C>T	ClinVar
rs183276875	p.Arg307Cys	missense variant	-	NC_000009.12:g.130489413C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000633520	p.Arg307His	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489414G>A	ClinVar
rs183276875	p.Arg307Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt,dbSNP
VAR_058355	p.Arg307Cys	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt
rs571576756	p.Arg307His	missense variant	-	NC_000009.12:g.130489414G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776452362	p.Lys308Asn	missense variant	-	NC_000009.12:g.130489418A>C	ExAC,TOPMed,gnomAD
RCV000006711	p.Lys310Gln	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489422A>C	ClinVar
rs121908648	p.Lys310Gln	missense variant	-	NC_000009.12:g.130489422A>C	ExAC,gnomAD
rs121908648	p.Lys310Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt,dbSNP
VAR_016009	p.Lys310Gln	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt
rs199751308	p.Lys310Arg	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt,dbSNP
VAR_015903	p.Lys310Arg	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt
rs199751308	p.Lys310Arg	missense variant	-	NC_000009.12:g.130489423A>G	ESP,ExAC,TOPMed,gnomAD
RCV000286574	p.Lys310Arg	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489423A>G	ClinVar
rs999685778	p.Gln311Arg	missense variant	-	NC_000009.12:g.130489426A>G	TOPMed,gnomAD
RCV000668096	p.Gln311Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489425C>T	ClinVar
rs1301613270	p.Gln311Ter	stop gained	-	NC_000009.12:g.130489425C>T	gnomAD
rs1301613270	p.Gln311Glu	missense variant	-	NC_000009.12:g.130489425C>G	gnomAD
VAR_078414	p.Gln311_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs763028919	p.Gly312Val	missense variant	-	NC_000009.12:g.130489429G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu313Met	missense variant	-	NC_000009.12:g.130489431C>A	NCI-TCGA
COSM1314566	p.Leu315Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130489439G>C	NCI-TCGA Cosmic
RCV000674984	p.Phe317Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489445del	ClinVar
RCV000672058	p.Val321Met	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489455G>A	ClinVar
rs727503813	p.Val321Met	missense variant	-	NC_000009.12:g.130489455G>A	-
RCV000152807	p.Val321Met	missense variant	-	NC_000009.12:g.130489455G>A	ClinVar
rs373473841	p.Tyr322Cys	missense variant	-	NC_000009.12:g.130489459A>G	ESP,ExAC,gnomAD
rs1250895424	p.Thr323Ile	missense variant	-	NC_000009.12:g.130489462C>T	TOPMed,gnomAD
rs121908639	p.Gly324Ser	missense variant	-	NC_000009.12:g.130489464G>A	ExAC,TOPMed,gnomAD
rs121908639	p.Gly324Ser	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt,dbSNP
VAR_000691	p.Gly324Ser	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt
RCV000557764	p.Gly324Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494867G>T	ClinVar
rs1554725034	p.Gly324Val	missense variant	-	NC_000009.12:g.130494867G>T	-
RCV000006699	p.Gly324Ser	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489464G>A	ClinVar
rs121908639	p.Gly324Cys	missense variant	-	NC_000009.12:g.130489464G>T	ExAC,TOPMed,gnomAD
VAR_058356	p.Gly324Val	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
COSM3654887	p.Trp326Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.130494874G>A	NCI-TCGA Cosmic
RCV000411785	p.Trp326Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494874del	ClinVar
COSM1105976	p.His327Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130494875C>T	NCI-TCGA Cosmic
rs1224833895	p.Ser328Asn	missense variant	-	NC_000009.12:g.130494879G>A	TOPMed
rs1055308437	p.Cys331Arg	missense variant	-	NC_000009.12:g.130494887T>C	TOPMed
rs1484802218	p.Glu332Gly	missense variant	-	NC_000009.12:g.130494891A>G	gnomAD
rs1283242027	p.Glu332Lys	missense variant	-	NC_000009.12:g.130494890G>A	TOPMed
rs756665874	p.Phe333Val	missense variant	-	NC_000009.12:g.130494893T>G	ExAC,gnomAD
rs1434881256	p.Val334Ala	missense variant	-	NC_000009.12:g.130494897T>C	TOPMed
rs555388438	p.Arg335His	missense variant	-	NC_000009.12:g.130494900G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs555388438	p.Arg335His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt,dbSNP
VAR_078416	p.Arg335His	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt
RCV000633519	p.Arg335Cys	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494899C>T	ClinVar
rs373514077	p.Arg335Cys	missense variant	-	NC_000009.12:g.130494899C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000670744	p.Arg335His	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494900G>A	ClinVar
rs1554725043	p.Cys337Gly	missense variant	-	NC_000009.12:g.130494905T>G	-
RCV000633524	p.Cys337Gly	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494905T>G	ClinVar
VAR_078417	p.Cys337Arg	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs769634647	p.Ile338Val	missense variant	-	NC_000009.12:g.130494908A>G	ExAC,gnomAD
rs769634647	p.Ile338Phe	missense variant	-	NC_000009.12:g.130494908A>T	ExAC,gnomAD
RCV000377584	p.Ala339Thr	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494911G>A	ClinVar
rs145100866	p.Ala339Thr	missense variant	-	NC_000009.12:g.130494911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs538040998	p.Lys340Met	missense variant	-	NC_000009.12:g.130494915A>T	1000Genomes,ExAC,gnomAD
rs538040998	p.Lys340Arg	missense variant	-	NC_000009.12:g.130494915A>G	1000Genomes,ExAC,gnomAD
COSM3654888	p.Ser341Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130494918C>T	NCI-TCGA Cosmic
VAR_058357	p.Ser341Phe	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1554725061	p.Gln342Arg	missense variant	-	NC_000009.12:g.130494921A>G	-
RCV000546005	p.Gln342Arg	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494921A>G	ClinVar
COSM3654889	p.Glu343Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130494923G>A	NCI-TCGA Cosmic
RCV000169239	p.Arg344Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494926C>T	ClinVar
rs999411828	p.Arg344Gln	missense variant	-	NC_000009.12:g.130494927G>A	TOPMed
rs786204537	p.Arg344Ter	stop gained	-	NC_000009.12:g.130494926C>T	gnomAD
VAR_078418	p.Arg344_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_058358	p.Val345Gly	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1289852479	p.Glu346Asp	missense variant	-	NC_000009.12:g.130494934A>C	TOPMed,gnomAD
VAR_058359	p.Gly347Arg	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1428619789	p.Lys348Glu	missense variant	-	NC_000009.12:g.130494938A>G	TOPMed
rs1174700771	p.Val349Met	missense variant	-	NC_000009.12:g.130494941G>A	gnomAD
rs773909247	p.Val351Met	missense variant	-	NC_000009.12:g.130494947G>A	ExAC,TOPMed,gnomAD
rs754285392	p.Val353Ile	missense variant	-	NC_000009.12:g.130494953G>A	ExAC,TOPMed,gnomAD
RCV000306977	p.Lys355Ter	frameshift	-	NC_000009.12:g.130494960del	ClinVar
RCV000672036	p.Gly356Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494963G>T	ClinVar
rs1261110148	p.Gly356Asp	missense variant	-	NC_000009.12:g.130494963G>A	gnomAD
rs1261110148	p.Gly356Val	missense variant	-	NC_000009.12:g.130494963G>T	gnomAD
VAR_078419	p.Gly356Val	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs756859126	p.Gln357Ter	stop gained	-	NC_000009.12:g.130494965C>T	ExAC,TOPMed,gnomAD
RCV000633522	p.Gln357Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494965C>T	ClinVar
VAR_078420	p.Gln357_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs780667165	p.Val358Met	missense variant	-	NC_000009.12:g.130494968G>A	ExAC,gnomAD
rs780667165	p.Val358Leu	missense variant	-	NC_000009.12:g.130494968G>T	ExAC,gnomAD
RCV000690358	p.Tyr359Asp	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494971T>G	ClinVar
rs1262020902	p.Tyr359His	missense variant	-	NC_000009.12:g.130494971T>C	TOPMed
rs1486068351	p.Tyr359Cys	missense variant	-	NC_000009.12:g.130494972A>G	gnomAD
VAR_058360	p.Tyr359Asp	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1248643636	p.Ile360Asn	missense variant	-	NC_000009.12:g.130494975T>A	gnomAD
rs1160216159	p.Leu361Arg	missense variant	-	NC_000009.12:g.130494978T>G	gnomAD
RCV000256322	p.Gly362Val	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494981G>T	ClinVar
rs779930497	p.Gly362Ser	missense variant	-	NC_000009.12:g.130494980G>A	ExAC,TOPMed,gnomAD
RCV000006708	p.Gly362Val	missense variant	Citrullinemia, mild	NC_000009.12:g.130494981G>T	ClinVar
RCV000418697	p.Gly362Val	missense variant	-	NC_000009.12:g.130494981G>T	ClinVar
rs121908647	p.Gly362Val	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt,dbSNP
VAR_015904	p.Gly362Val	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt
rs121908647	p.Gly362Val	missense variant	-	NC_000009.12:g.130494981G>T	gnomAD
RCV000006700	p.Arg363Trp	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494983C>T	ClinVar
RCV000185787	p.Arg363Trp	missense variant	-	NC_000009.12:g.130494983C>T	ClinVar
RCV000633525	p.Arg363Gln	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494984G>A	ClinVar
rs771937610	p.Arg363Gln	missense variant	-	NC_000009.12:g.130494984G>A	ExAC,TOPMed,gnomAD
rs121908640	p.Arg363Trp	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt,dbSNP
VAR_000693	p.Arg363Trp	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt
rs121908640	p.Arg363Trp	missense variant	-	NC_000009.12:g.130494983C>T	TOPMed,gnomAD
VAR_000692	p.Arg363Leu	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
VAR_016010	p.Arg363Gly	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs1370653471	p.Leu367Pro	missense variant	-	NC_000009.12:g.130494996T>C	gnomAD
rs1355666688	p.Glu372Asp	missense variant	-	NC_000009.12:g.130495012G>T	gnomAD
rs1453708640	p.Glu373Ter	stop gained	-	NC_000009.12:g.130495013G>T	TOPMed
rs1361316705	p.Met377Ile	missense variant	-	NC_000009.12:g.130499508G>A	gnomAD
rs140715869	p.Asn378Lys	missense variant	-	NC_000009.12:g.130499511C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs78549067	p.Val379Met	missense variant	-	NC_000009.12:g.130499512G>A	ESP,ExAC,TOPMed,gnomAD
rs78549067	p.Val379Leu	missense variant	-	NC_000009.12:g.130499512G>C	ESP,ExAC,TOPMed,gnomAD
RCV000169103	p.Gln380Ter	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499515C>T	ClinVar
RCV000672915	p.Gln380Ter	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499516del	ClinVar
rs746347893	p.Gln380His	missense variant	-	NC_000009.12:g.130499517G>C	ExAC,TOPMed,gnomAD
rs786204460	p.Gln380Ter	stop gained	-	NC_000009.12:g.130499515C>T	-
VAR_078421	p.Gln380_Lys412del	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
rs770243951	p.Asp382Val	missense variant	-	NC_000009.12:g.130499522A>T	ExAC
rs775691183	p.Pro385Ala	missense variant	-	NC_000009.12:g.130499530C>G	ExAC,gnomAD
rs376164698	p.Thr386Pro	missense variant	-	NC_000009.12:g.130499533A>C	ESP,ExAC,TOPMed,gnomAD
rs1486493080	p.Thr386Ile	missense variant	-	NC_000009.12:g.130499534C>T	TOPMed,gnomAD
rs376164698	p.Thr386Ala	missense variant	-	NC_000009.12:g.130499533A>G	ESP,ExAC,TOPMed,gnomAD
rs1474017319	p.Thr389Ile	missense variant	-	NC_000009.12:g.130499543C>T	gnomAD
rs1474017319	p.Thr389Ile	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt,dbSNP
VAR_016012	p.Thr389Ile	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt
rs145288815	p.Thr389Ala	missense variant	-	NC_000009.12:g.130499542A>G	ESP,ExAC,TOPMed,gnomAD
VAR_078422	p.Thr389Pro	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
RCV000006701	p.Gly390Arg	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499545G>A	ClinVar
rs753858624	p.Gly390Glu	missense variant	-	NC_000009.12:g.130499546G>A	ExAC,gnomAD
rs121908641	p.Gly390Trp	missense variant	-	NC_000009.12:g.130499545G>T	ESP,ExAC,TOPMed,gnomAD
rs121908641	p.Gly390Arg	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt,dbSNP
VAR_000694	p.Gly390Arg	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt
rs121908641	p.Gly390Arg	missense variant	-	NC_000009.12:g.130499545G>A	ESP,ExAC,TOPMed,gnomAD
rs1554725724	p.Phe391Leu	missense variant	-	NC_000009.12:g.130499550C>A	-
RCV000497925	p.Phe391Leu	missense variant	-	NC_000009.12:g.130499550C>A	ClinVar
rs754836732	p.Asn393Lys	missense variant	-	NC_000009.12:g.130499556C>G	ExAC,gnomAD
rs1011135762	p.Ile394Met	missense variant	-	NC_000009.12:g.130499559C>G	TOPMed
rs1301940406	p.Ile394Val	missense variant	-	NC_000009.12:g.130499557A>G	TOPMed
rs1021193921	p.Asn395Ser	missense variant	-	NC_000009.12:g.130499561A>G	TOPMed,gnomAD
rs1419938185	p.Ser396Thr	missense variant	-	NC_000009.12:g.130499563T>A	TOPMed
rs1437068422	p.Arg398Ser	missense variant	-	NC_000009.12:g.130500976G>C	TOPMed
rs1347470516	p.Tyr402Cys	missense variant	-	NC_000009.12:g.130500987A>G	TOPMed,gnomAD
rs964964749	p.His403Arg	missense variant	-	NC_000009.12:g.130500990A>G	TOPMed,gnomAD
rs752612525	p.Arg404His	missense variant	-	NC_000009.12:g.130500993G>A	ExAC,TOPMed,gnomAD
rs765099183	p.Arg404Cys	missense variant	-	NC_000009.12:g.130500992C>T	ExAC,gnomAD
rs1242919093	p.Leu405Pro	missense variant	-	NC_000009.12:g.130500996T>C	gnomAD
rs758336855	p.Lys408Asn	missense variant	-	NC_000009.12:g.130501006G>C	ExAC,TOPMed,gnomAD
COSM73754	p.Lys412Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130501017A>C	NCI-TCGA Cosmic
rs763970075	p.Ter413Gln	stop lost	-	NC_000009.12:g.130501019T>C	ExAC,gnomAD
rs1243083380	p.Ter413Tyr	stop lost	-	NC_000009.12:g.130501021G>C	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002064	Alkalosis, Respiratory	phenotype	HPO
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0003864	Arthritis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0004623	Bacterial Infections	group	BEFREE
C0005283	beta Thalassemia	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006114	Cerebral Edema	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	LHGDN
C0007758	Cerebellar Ataxia	phenotype	HPO
C0009421	Comatose	phenotype	HPO
C0011875	Diabetic Angiopathies	disease	CTD_human
C0013423	Dystonia Musculorum Deformans	disease	BEFREE
C0014544	Epilepsy	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0019163	Hepatitis B	disease	BEFREE
C0019209	Hepatomegaly	phenotype	HPO
C0019348	Herpes Simplex Infections	group	BEFREE
C0021053	Immune System Diseases	group	BEFREE
C0023380	Lethargy	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023890	Liver Cirrhosis	disease	HPO
C0023895	Liver diseases	group	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025500	Mesothelioma	disease	BEFREE
C0025521	Inborn Errors of Metabolism	group	BEFREE
C0025945	Microangiopathy, Diabetic	disease	CTD_human
C0027341	Nail-Patella Syndrome	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0033626	Protein Deficiency	disease	BEFREE
C0036572	Seizures	phenotype	HPO
C0036690	Septicemia	disease	BEFREE
C0040822	Tremor	phenotype	BEFREE
C0042164	Uveitis	disease	RGD
C0042963	Vomiting	phenotype	HPO
C0079773	Lymphoma, T-Cell, Cutaneous	disease	BEFREE
C0085584	Encephalopathies	group	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0154246	Urea Cycle Disorders, Inborn	group	BEFREE
C0175683	Citrullinemia	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;UNIPROT
C0220994	Hyperammonemia	phenotype	BEFREE;GENOMICS_ENGLAND;HPO
C0231246	Failure to gain weight	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242363	Islet Cell Tumor	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0243026	Sepsis	disease	BEFREE
C0268128	Orotic aciduria	phenotype	HPO
C0268547	Argininosuccinic Aciduria	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0345967	Malignant mesothelioma	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0393615	Familial Tremor	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0751750	Argininosuccinic Acid Synthetase Deficiency Disease, Partial	disease	CTD_human
C0751751	Argininosuccinic Acid Synthetase Deficiency, Complete	disease	BEFREE;CTD_human
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1527311	Brain Edema	disease	HPO
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1839531	Protein avoidance	phenotype	HPO
C1839533	Hyperglutaminemia	phenotype	HPO
C1839541	Episodic ammonia intoxication	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1855106	Neonatal onset	phenotype	HPO
C1859735	Arginine deficiency	phenotype	HPO
C1861305	TARSAL-CARPAL COALITION SYNDROME	disease	BEFREE
C1863844	Adult-onset citrullinemia type 2	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2315100	Pediatric failure to thrive	disease	HPO
C2349952	Oropharyngeal Carcinoma	disease	BEFREE
C2700617	Irritation - emotion	phenotype	HPO
C2931784	Amyloid angiopathy	disease	BEFREE
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C3714524	Fibromyxosarcoma	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3841475	beta^+^ Thalassemia	disease	BEFREE
C3888090	Early onset torsion dystonia	disease	BEFREE
C4016834	CITRULLINEMIA, MILD	phenotype	CLINVAR
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4025095	Hypoargininemia	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	HDA
GO:0004055	argininosuccinate synthase activity	IMP
GO:0004055	argininosuccinate synthase activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0015643	toxic substance binding	IEA
GO:0016597	amino acid binding	IMP
GO:0042802	identical protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000050	urea cycle	IEA
GO:0000050	urea cycle	IMP
GO:0000050	urea cycle	IBA
GO:0000050	urea cycle	TAS
GO:0000052	citrulline metabolic process	IMP
GO:0000053	argininosuccinate metabolic process	IBA
GO:0000053	argininosuccinate metabolic process	IMP
GO:0001822	kidney development	IEA
GO:0001889	liver development	IEA
GO:0006526	arginine biosynthetic process	IEA
GO:0006526	arginine biosynthetic process	IMP
GO:0006526	arginine biosynthetic process	IBA
GO:0006531	aspartate metabolic process	IMP
GO:0006953	acute-phase response	IEA
GO:0007494	midgut development	IEA
GO:0007568	aging	IEA
GO:0007584	response to nutrient	IEA
GO:0007623	circadian rhythm	IDA
GO:0010043	response to zinc ion	IEA
GO:0010046	response to mycotoxin	IEA
GO:0032355	response to estradiol	IEA
GO:0045429	positive regulation of nitric oxide biosynthetic process	IMP
GO:0060416	response to growth hormone	IEA
GO:0060539	diaphragm development	IEA
GO:0071222	cellular response to lipopolysaccharide	IEA
GO:0071230	cellular response to amino acid stimulus	IEA
GO:0071242	cellular response to ammonium ion	IEA
GO:0071320	cellular response to cAMP	IEA
GO:0071346	cellular response to interferon-gamma	IEA
GO:0071356	cellular response to tumor necrosis factor	IEA
GO:0071377	cellular response to glucagon stimulus	IEA
GO:0071400	cellular response to oleic acid	IEA
GO:0071418	cellular response to amine stimulus	IEA
GO:0071499	cellular response to laminar fluid shear stress	IMP
GO:0071549	cellular response to dexamethasone stimulus	IEA
GO:1903038	negative regulation of leukocyte cell-cell adhesion	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IEA
GO:0005737	cytoplasm	IBA
GO:0005741	mitochondrial outer membrane	IEA
GO:0005764	lysosome	IEA
GO:0005783	endoplasmic reticulum	IEA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0043204	perikaryon	IEA
GO:0070062	extracellular exosome	HDA
GO:0070852	cell body fiber	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-70635	Urea cycle	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of ASS1 mRNA	29038090
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of ASS1 mRNA	28903501
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of ASS1 mRNA	24810058
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of ASS1 protein	24810058
C066841	2,3,7,8-tetrabromodibenzo-4-dioxin	2,3,7,8-tetrabromodibenzo-4-dioxin affects the expression of ASS1 protein	27604104
C014464	3,4-dichloroaniline	3,4-dichloroaniline results in increased expression of ASS1 mRNA	24172598
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C544471	5-hydroxythalidomide	5-hydroxythalidomide binds to ASS1 protein	27464947
D000082	Acetaminophen	Acetaminophen affects the expression of ASS1 mRNA	17562736
D000082	Acetaminophen	Acetaminophen affects the expression of ASS1 mRNA	17366322
D000082	Acetaminophen	Acetaminophen affects the expression of ASS1 protein	16687475
D000082	Acetaminophen	Acetaminophen results in increased expression of ASS1 protein	15800402; 16538041;
D000109	Acetylcholine	ASS1 protein results in increased susceptibility to Acetylcholine	25033204
D020106	Acrylamide	Acrylamide results in increased expression of ASS1 mRNA	28959563
C512527	ADI PEG20	ASS1 protein affects the susceptibility to ADI PEG20	30008833
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of ASS1 mRNA	31555880
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ASS1 gene	31555880
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ASS1 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of ASS1 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of ASS1 intron	30157460
D000447	Aldehydes	Aldehydes results in increased expression of ASS1 mRNA	25014914
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in increased expression of ASS1 mRNA	28522335
C103505	AM 251	AM 251 results in increased expression of ASS1 mRNA	16500647
C018824	ammonium acetate	ammonium acetate results in increased activity of ASS1 protein	16009439
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of ASS1 mRNA	16483693
D000661	Amphetamine	Amphetamine results in increased expression of ASS1 mRNA	30779732
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of ASS1 mRNA	15070760; 15761015;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of ASS1 mRNA	27829220
D000077237	Arsenic Trioxide	[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of ASS1 mRNA	15894607
C015001	arsenite	arsenite affects the expression of ASS1 mRNA	22959463
D001280	Atrazine	Atrazine results in decreased expression of ASS1 mRNA	29505797
C049935	avobenzone	avobenzone results in decreased expression of ASS1 mRNA	31016361
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ASS1 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ASS1 mRNA	21632981
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in decreased expression of ASS1 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ASS1 mRNA	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ASS1 mRNA	21569818
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of ASS1 mRNA	26377693
C006780	bisphenol A	bisphenol A affects the expression of ASS1 mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of ASS1 mRNA	29275510
C006780	bisphenol A	[bisphenol A co-treated with Tretinoin] results in decreased expression of ASS1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of ASS1 mRNA	25181051; 30903817;
C006780	bisphenol A	bisphenol A results in decreased expression of ASS1 mRNA	30816183
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of ASS1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of ASS1 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of ASS1 mRNA	23741332
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of ASS1 mRNA	24982889
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of ASS1 mRNA	24982889
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of ASS1 mRNA	25993096
D002117	Calcitriol	Calcitriol results in decreased expression of ASS1 mRNA	12875902
C459604	candoxin	candoxin results in decreased expression of ASS1 mRNA	16309724
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of ASS1 mRNA	17484886; 26639393;
D002738	Chloroquine	Chloroquine results in decreased expression of ASS1 mRNA	19393257
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of ASS1 mRNA	20938992
D002945	Cisplatin	ASS1 protein affects the susceptibility to Cisplatin	16217747
D002945	Cisplatin	Cisplatin affects the expression of ASS1 mRNA	23300844
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of ASS1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of ASS1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of ASS1 protein	22023808
D002994	Clofibrate	Clofibrate results in decreased expression of ASS1 protein	19952500
D002994	Clofibrate	Clofibrate results in decreased expression of ASS1 mRNA	17585979
D002994	Clofibrate	Clofibrate results in decreased expression of ASS1 mRNA	12851107
D002994	Clofibrate	Clofibrate results in decreased expression of ASS1 protein	16470657
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of ASS1 mRNA	19376846
D003300	Copper	Copper results in decreased expression of ASS1 mRNA	22465980
C057862	cyanoginosin LR	cyanoginosin LR results in decreased expression of ASS1 mRNA	17383702
D016572	Cyclosporine	Cyclosporine results in decreased expression of ASS1 mRNA	20106945
D000077209	Decitabine	Decitabine affects the expression of ASS1 mRNA	23300844
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of ASS1 mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in increased expression of ASS1 mRNA	25047013
D003907	Dexamethasone	Dexamethasone results in increased expression of ASS1 mRNA	20032058
D003907	Dexamethasone	Testosterone inhibits the reaction [Dexamethasone results in increased expression of ASS1 mRNA]	20032058
D064730	Dexrazoxane	[Doxorubicin co-treated with Dexrazoxane] results in decreased expression of ASS1 mRNA	26873546
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of ASS1 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of ASS1 mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ASS1 mRNA	21266533
D004008	Diclofenac	Diclofenac results in decreased expression of ASS1 mRNA	26934552
D004041	Dietary Fats	Dietary Fats results in decreased expression of ASS1 mRNA	30120929
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of ASS1 mRNA	29505797
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of ASS1 mRNA	28943392
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of ASS1 protein	20935162
D004052	Diethylnitrosamine	[Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of ASS1 protein	20935162
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of ASS1 mRNA	15289156
D004237	Diuron	Diuron metabolite results in increased expression of ASS1 mRNA	24172598
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
D004317	Doxorubicin	[Doxorubicin co-treated with Dexrazoxane] results in decreased expression of ASS1 mRNA	26873546
D004317	Doxorubicin	Doxorubicin results in increased expression of ASS1 mRNA	26873546
D004726	Endosulfan	Endosulfan results in decreased expression of ASS1 mRNA	29391264
C118739	entinostat	entinostat results in increased expression of ASS1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
D004785	Environmental Pollutants	Environmental Pollutants results in decreased expression of ASS1 mRNA	20064776
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of ASS1 mRNA	29464035
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of ASS1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of ASS1 mRNA	15757668
D004958	Estradiol	Estradiol results in increased expression of ASS1 mRNA	15289156
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D000431	Ethanol	Ethanol results in decreased expression of ASS1 protein	23200777
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of ASS1 mRNA	12655037
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of ASS1 mRNA	17351261; 17557909;
C540355	fenamidone	fenamidone results in increased expression of ASS1 mRNA	27029645
C052034	fenoxycarb	fenoxycarb results in increased expression of ASS1 mRNA	24038158
D017313	Fenretinide	Fenretinide results in increased expression of ASS1 mRNA	28973697
D005472	Fluorouracil	[Fluorouracil co-treated with Irinotecan] results in decreased expression of ASS1 mRNA	16391804
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of ASS1 mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of ASS1 mRNA	27664576
C039281	furan	furan binds to ASS1 protein	22240984
C039281	furan	furan results in decreased expression of ASS1 mRNA	15120968
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D019833	Genistein	Genistein results in increased expression of ASS1 mRNA	15757668
D019833	Genistein	Genistein results in increased expression of ASS1 mRNA	15289156
D005897	Glafenine	Glafenine results in decreased expression of ASS1 mRNA	24136188
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B results in increased expression of ASS1 mRNA]	17109745
C412815	GW 4064	GW 4064 results in increased expression of ASS1 mRNA	26655953
C492448	ICG 001	ICG 001 results in increased expression of ASS1 mRNA	26191083
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of ASS1 mRNA	25613284
D000077146	Irinotecan	[Fluorouracil co-treated with Irinotecan] results in decreased expression of ASS1 mRNA	16391804
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of ASS1 mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in increased expression of ASS1 mRNA	30851411
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in increased expression of ASS1 mRNA	15784690
C008261	lead acetate	lead acetate results in decreased expression of ASS1 mRNA	11578147
C008261	lead acetate	lead acetate results in decreased expression of ASS1 protein	21247988
D000077339	Leflunomide	Leflunomide results in increased expression of ASS1 mRNA	19751817
C025340	manganese chloride	manganese chloride results in increased expression of ASS1 mRNA	28801915
D008701	Methapyrilene	Methapyrilene results in decreased expression of ASS1 mRNA	31555880
D008701	Methapyrilene	Methapyrilene results in increased methylation of ASS1 gene	31555880
D008701	Methapyrilene	Methapyrilene results in decreased expression of ASS1 mRNA	30467583
D008701	Methapyrilene	Methapyrilene results in increased expression of ASS1 protein	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of ASS1 mRNA	20938992
D008727	Methotrexate	Methotrexate results in increased expression of ASS1 mRNA	15120968
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of ASS1 mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
D008942	Mitoxantrone	ASS1 protein affects the susceptibility to Mitoxantrone	16217747
C000627226	momfluorothrin	momfluorothrin results in decreased expression of ASS1 mRNA	28520973
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of ASS1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of ASS1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of ASS1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of ASS1 mRNA	25554681
C028007	nickel monoxide	nickel monoxide results in decreased expression of ASS1 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in increased expression of ASS1 mRNA	22714537
D009569	Nitric Oxide	[Troglitazone results in increased expression of ASS1 protein] which results in increased abundance of Nitric Oxide	18375203
D009569	Nitric Oxide	ASS1 protein results in increased susceptibility to Nitric Oxide	25033204
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of ASS1 mRNA	20188158
C002741	N-nitrosomorpholine	N-nitrosomorpholine results in decreased expression of ASS1 protein	19716841
C572573	N-nitroso-tris-chloroethylurea	N-nitroso-tris-chloroethylurea results in increased expression of ASS1 mRNA	27935865
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of ASS1 mRNA	25729387
D010100	Oxygen	Oxygen deficiency results in increased expression of ASS1 mRNA	26516004
D010126	Ozone	Ozone results in increased expression of ASS1 mRNA	25838073
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of ASS1 mRNA	26272509
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of ASS1 mRNA	26705709
C046012	pentanal	pentanal results in increased expression of ASS1 mRNA	26079696
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in decreased expression of ASS1 mRNA	23602845
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of ASS1 mRNA	18692542; 21723365;
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of ASS1 mRNA	20452409; 21723365;
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of ASS1 protein	20452409
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of ASS1 mRNA	17097637
D010634	Phenobarbital	Phenobarbital results in decreased expression of ASS1 protein	19952500
D010634	Phenobarbital	Phenobarbital results in decreased expression of ASS1 mRNA	23091169
D010634	Phenobarbital	[Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of ASS1 protein	20935162
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of ASS1 mRNA	15728792
C006253	pirinixic acid	pirinixic acid results in decreased expression of ASS1 mRNA	17426115; 20813756;
C006253	pirinixic acid	pirinixic acid results in decreased expression of ASS1 protein	15226431
C006253	pirinixic acid	pirinixic acid results in decreased expression of ASS1 mRNA	17164430; 19162173;
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of ASS1 mRNA	29432896
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of ASS1 mRNA	19162173
D011372	Progestins	Progestins results in increased expression of ASS1 mRNA	19609016
C005556	propionaldehyde	propionaldehyde results in increased expression of ASS1 mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil affects the expression of ASS1 mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of ASS1 mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of ASS1 mRNA	21632981
D000077185	Resveratrol	Resveratrol results in increased expression of ASS1 mRNA	18089832
D000077185	Resveratrol	Resveratrol results in increased expression of ASS1 protein	18089832
D000077185	Resveratrol	Resveratrol results in increased expression of ASS1 protein	25505154
D012402	Rotenone	Rotenone results in increased expression of ASS1 mRNA	24810058
D012643	Selenium	Selenium results in increased expression of ASS1 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of ASS1 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of ASS1 mRNA	22431001
D012834	Silver	Silver analog results in increased expression of ASS1 mRNA	24974767
D018030	Silver Compounds	Silver Compounds results in increased expression of ASS1 mRNA	29703973
D019821	Simvastatin	Simvastatin results in decreased expression of ASS1 mRNA	16414398
D012906	Smoke	Smoke results in decreased expression of ASS1 mRNA	21095227
C017947	sodium arsenite	sodium arsenite affects the expression of ASS1 mRNA	19590694
C017947	sodium arsenite	sodium arsenite results in decreased expression of ASS1 mRNA	19590694
C016104	sodium bichromate	sodium bichromate results in decreased expression of ASS1 mRNA	25993096
D017673	Sodium Chloride, Dietary	ASS1 protein affects the susceptibility to Sodium Chloride, Dietary	15257170
D017673	Sodium Chloride, Dietary	Sodium Chloride, Dietary deficiency results in decreased expression of ASS1 mRNA	15257170
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of ASS1 mRNA	27862939
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of ASS1 protein	29653260
D012999	Soman	Soman results in decreased expression of ASS1 mRNA	19281266
C016766	sulforafan	sulforafan results in decreased expression of ASS1 mRNA	26833863
D000077210	Sunitinib	Sunitinib results in increased expression of ASS1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in increased expression of ASS1 mRNA	31299295
C021751	tanshinone	tanshinone results in decreased expression of ASS1 mRNA	15849732
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of ASS1 mRNA	15336504
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of ASS1 protein	24394546
D013739	Testosterone	Testosterone inhibits the reaction [Dexamethasone results in increased expression of ASS1 mRNA]	20032058
C004648	testosterone enanthate	testosterone enanthate affects the expression of ASS1 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ASS1 mRNA	16443690
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of ASS1 mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ASS1 mRNA	15034205; 19770486;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ASS1 mRNA	16054898; 16497791; 18796159; 21215274;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ASS1 protein	16497791
D013750	Tetrachloroethylene	Tetrachloroethylene results in decreased expression of ASS1 mRNA	28973375
D013755	Tetradecanoylphorbol Acetate	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of ASS1 mRNA	16979875
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of ASS1 mRNA	25613284
D013853	Thioacetamide	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of ASS1 mRNA	28943392
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of ASS1 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ASS1 mRNA	28065790
D014028	Tobacco Smoke Pollution	[AGER gene results in increased susceptibility to Tobacco Smoke Pollution] which results in increased expression of ASS1 mRNA	30659203
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of ASS1 mRNA	20133372
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of ASS1 protein	22595367
D000077236	Topiramate	Topiramate results in decreased expression of ASS1 mRNA	16979414
D019772	Topotecan	ASS1 protein affects the susceptibility to Topotecan	16217747
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of ASS1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of ASS1 mRNA	25729387
D014212	Tretinoin	[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of ASS1 mRNA	15894607
D014212	Tretinoin	Tretinoin results in decreased expression of ASS1 mRNA	12875902; 15894607; 16129123; 21934132;
D014212	Tretinoin	[bisphenol A co-treated with Tretinoin] results in decreased expression of ASS1 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of ASS1 mRNA	30951980
C011559	tributyltin	tributyltin results in decreased expression of ASS1 mRNA	29505797
D014241	Trichloroethylene	Trichloroethylene results in increased expression of ASS1 mRNA	19254012
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of ASS1 mRNA	24935251; 26272509;
C012589	trichostatin A	trichostatin A results in decreased expression of ASS1 mRNA	15901671
D014260	Triclosan	Triclosan results in increased expression of ASS1 mRNA	30510588
D014266	Trientine	Trientine results in decreased expression of ASS1 protein	19634143
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of ASS1 mRNA	26179874
D000077288	Troglitazone	Troglitazone promotes the reaction [PPARG protein binds to ASS1 promoter]	18375203
D000077288	Troglitazone	Troglitazone promotes the reaction [[PPARG protein binds to ASS1 promoter] which results in increased expression of ASS1 mRNA]	18375203; 18375203;
D000077288	Troglitazone	Troglitazone results in increased expression of ASS1 mRNA	18375203
D000077288	Troglitazone	Troglitazone results in increased expression of ASS1 protein	18375203
D000077288	Troglitazone	[Troglitazone results in increased expression of ASS1 protein] which results in increased abundance of Nitric Oxide	18375203
D000077288	Troglitazone	Troglitazone results in increased expression of ASS1 mRNA	19140230
D014415	Tunicamycin	Tunicamycin results in increased expression of ASS1 mRNA	29453283
C406224	valdecoxib	valdecoxib results in decreased expression of ASS1 mRNA	24136188
D014635	Valproic Acid	Valproic Acid results in decreased expression of ASS1 mRNA	24935251; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased expression of ASS1 mRNA	15901671
D014638	Vanadates	Vanadates results in decreased expression of ASS1 mRNA	22714537
D014640	Vancomycin	Vancomycin results in increased expression of ASS1 mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ASS1 gene	25560391
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ASS1 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of ASS1 mRNA	26272509
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in increased expression of ASS1 mRNA	15784690
D015032	Zinc	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of ASS1 mRNA	16979875

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0028	Amino-acid biosynthesis
KW-0055	Arginine biosynthesis
KW-0067	ATP-binding
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0436	Ligase
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0835	Urea cycle

Interpro

InterPro ID	InterPro Term
IPR001518	Arginosuc_synth
IPR018223	Arginosuc_synth_CS
IPR023434	Arginosuc_synth_type_1_subfam
IPR024074	AS_cat/multimer_dom_body
IPR014729	Rossmann-like_a/b/a_fold

PROSITE

PROSITE ID	PROSITE Term
PS00564	ARGININOSUCCIN_SYN_1
PS00565	ARGININOSUCCIN_SYN_2

Pfam

Pfam ID	Pfam Term
PF00764	Arginosuc_synth

Gene: ASS1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction