CleftGeneDB-Search

Gene: NDST1

Basic information

Tag	Content
Uniprot ID	P52848; Q96E57;
Entrez ID	3340
Genbank protein ID	AAA75281.1; AAC27354.1; AAH12888.1; AAA67765.1;
Genbank nucleotide ID	NM_001543.4; XM_017009430.1; XM_017009428.1; NM_001301063.1; XM_017009429.1; XM_006714783.1; XM_017009431.1;
Ensembl protein ID	ENSP00000261797
Ensembl nucleotide ID	ENSG00000070614
Gene name	Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1
Gene symbol	NDST1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis (PubMed:10758005, PubMed:12634318). Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Compared to other NDST enzymes, its presence is absolutely required. Participates in biosynthesis of heparan sulfate that can ultimately serve as L-selectin ligands, thereby playing a role in inflammatory response (PubMed:10758005, PubMed:12634318). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
Sequence	MPALACLRRL CRHVSPQAVL FLLFIFCLFS VFISAYYLYG WKRGLEPSAD APEPDCGDPP 60 PVAPSRLLPL KPVQAATPSR TDPLVLVFVE SLYSQLGQEV VAILESSRFK YRTEIAPGKG 120 DMPTLTDKGR GRFALIIYEN ILKYVNLDAW NRELLDKYCV AYGVGIIGFF KANENSLLSA 180 QLKGFPLFLH SNLGLKDCSI NPKSPLLYVT RPSEVEKGVL PGEDWTVFQS NHSTYEPVLL 240 AKTRSSESIP HLGADAGLHA ALHATVVQDL GLHDGIQRVL FGNNLNFWLH KLVFVDAVAF 300 LTGKRLSLPL DRYILVDIDD IFVGKEGTRM KVEDVKALFD TQNELRAHIP NFTFNLGYSG 360 KFFHTGTNAE DAGDDLLLSY VKEFWWFPHM WSHMQPHLFH NQSVLAEQMA LNKKFAVEHG 420 IPTDMGYAVA PHHSGVYPVH VQLYEAWKQV WSIRVTSTEE YPHLKPARYR RGFIHNGIMV 480 LPRQTCGLFT HTIFYNEYPG GSSELDKIIN GGELFLTVLL NPISIFMTHL SNYGNDRLGL 540 YTFKHLVRFL HSWTNLRLQT LPPVQLAQKY FQIFSEEKDP LWQDPCEDKR HKDIWSKEKT 600 CDRFPKLLII GPQKTGTTAL YLFLGMHPDL SSNYPSSETF EEIQFFNGHN YHKGIDWYME 660 FFPIPSNTTS DFYFEKSANY FDSEVAPRRA AALLPKAKVL TILINPADRA YSWYQHQRAH 720 DDPVALKYTF HEVITAGSDA SSKLRALQNR CLVPGWYATH IERWLSAYHA NQILVLDGKL 780 LRTEPAKVMD MVQKFLGVTN TIDYHKTLAF DPKKGFWCQL LEGGKTKCLG KSKGRKYPEM 840 DLDSRAFLKD YYRDHNIELS KLLYKMGQTL PTWLREDLQN TR 882

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
1NST

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	NDST1	514172	E1BCG5		Bos taurus	Prediction	More>>
1:1 ortholog	NDST1	102174299	A0A452EZE5		Capra hircus	Prediction	More>>
1:1 ortholog	NDST1	3340	P52848		Homo sapiens	Prediction	More>>
1:1 ortholog	Ndst1	15531	Q3UHN9	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NDST1	462194	H2R584		Pan troglodytes	Prediction	More>>
1:1 ortholog	NDST1		M3V841		Sus scrofa	Prediction	More>>
1:1 ortholog	NDST1	100344304	G1T1F7		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Ndst1	29633	Q02353		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ndst1b	570459	A0A0R4IR84		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1053232280	p.Pro2Ala	missense variant	-	NC_000005.10:g.150521258C>G	TOPMed
rs752084158	p.Arg8Gln	missense variant	-	NC_000005.10:g.150521277G>A	ExAC,TOPMed,gnomAD
rs766038600	p.Arg8Trp	missense variant	-	NC_000005.10:g.150521276C>T	ExAC,TOPMed,gnomAD
rs1480149742	p.Arg9Lys	missense variant	-	NC_000005.10:g.150521280G>A	gnomAD
rs755612825	p.Arg9Ser	missense variant	-	NC_000005.10:g.150521281G>C	ExAC,TOPMed,gnomAD
rs753004555	p.Arg12Trp	missense variant	-	NC_000005.10:g.150521288C>T	ExAC,gnomAD
rs534750288	p.Arg12Gln	missense variant	-	NC_000005.10:g.150521289G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777877507	p.His13Gln	missense variant	-	NC_000005.10:g.150521293C>G	ExAC,TOPMed,gnomAD
RCV000678273	p.His13Gln	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150521293C>G	ClinVar
RCV000519525	p.His13Gln	missense variant	-	NC_000005.10:g.150521293C>G	ClinVar
rs377262041	p.Val14Met	missense variant	-	NC_000005.10:g.150521294G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1222119334	p.Val14Ala	missense variant	-	NC_000005.10:g.150521295T>C	TOPMed
rs935946245	p.Ser15Phe	missense variant	-	NC_000005.10:g.150521298C>T	gnomAD
rs935946245	p.Ser15Cys	missense variant	-	NC_000005.10:g.150521298C>G	gnomAD
rs199626839	p.Pro16Leu	missense variant	-	NC_000005.10:g.150521301C>T	ExAC,TOPMed,gnomAD
COSM3612543	p.Pro16Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521300C>T	NCI-TCGA Cosmic
rs145198292	p.Ile25Val	missense variant	-	NC_000005.10:g.150521327A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000502179	p.Ile25Val	missense variant	-	NC_000005.10:g.150521327A>G	ClinVar
NCI-TCGA novel	p.Ile25Phe	missense variant	-	NC_000005.10:g.150521327A>T	NCI-TCGA
rs747928567	p.Phe29Leu	missense variant	-	NC_000005.10:g.150521341C>A	ExAC,gnomAD
rs747928567	p.Phe29Leu	missense variant	-	NC_000005.10:g.150521341C>G	ExAC,gnomAD
rs1272512162	p.Ser30Arg	missense variant	-	NC_000005.10:g.150521342A>C	gnomAD
rs373412859	p.Val31Ile	missense variant	-	NC_000005.10:g.150521345G>A	ESP,ExAC,TOPMed,gnomAD
rs373412859	p.Val31Phe	missense variant	-	NC_000005.10:g.150521345G>T	ESP,ExAC,TOPMed,gnomAD
rs982673060	p.Ile33Val	missense variant	-	NC_000005.10:g.150521351A>G	TOPMed
rs1264818846	p.Ser34Leu	missense variant	-	NC_000005.10:g.150521355C>T	gnomAD
RCV000503683	p.Ser34Trp	missense variant	-	NC_000005.10:g.150521355C>G	ClinVar
rs1264818846	p.Ser34Trp	missense variant	-	NC_000005.10:g.150521355C>G	gnomAD
NCI-TCGA novel	p.Ala35ProPheSerTerUnkUnkUnk	frameshift	-	NC_000005.10:g.150521356G>-	NCI-TCGA
rs1359048003	p.Tyr37Cys	missense variant	-	NC_000005.10:g.150521364A>G	TOPMed
rs1237741707	p.Leu38Val	missense variant	-	NC_000005.10:g.150521366C>G	gnomAD
rs768165787	p.Gly40Asp	missense variant	-	NC_000005.10:g.150521373G>A	ExAC,gnomAD
rs768165787	p.Gly40Val	missense variant	-	NC_000005.10:g.150521373G>T	ExAC,gnomAD
rs973926101	p.Lys42Asn	missense variant	-	NC_000005.10:g.150521380G>T	TOPMed,gnomAD
rs542457756	p.Arg43Gln	missense variant	-	NC_000005.10:g.150521382G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1433448746	p.Arg43Ter	stop gained	-	NC_000005.10:g.150521381C>T	gnomAD
rs542457756	p.Arg43Pro	missense variant	-	NC_000005.10:g.150521382G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756408869	p.Gly44Val	missense variant	-	NC_000005.10:g.150521385G>T	ExAC,gnomAD
rs754000766	p.Ser48Trp	missense variant	-	NC_000005.10:g.150521397C>G	ExAC,TOPMed,gnomAD
rs754000766	p.Ser48Leu	missense variant	-	NC_000005.10:g.150521397C>T	ExAC,TOPMed,gnomAD
rs1321737413	p.Ser48Pro	missense variant	-	NC_000005.10:g.150521396T>C	TOPMed,gnomAD
RCV000503937	p.Ser48Trp	missense variant	-	NC_000005.10:g.150521397C>G	ClinVar
rs199512253	p.Ala49Val	missense variant	-	NC_000005.10:g.150521400C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala49Thr	missense variant	-	NC_000005.10:g.150521399G>A	NCI-TCGA
rs1218441095	p.Ala51Gly	missense variant	-	NC_000005.10:g.150521406C>G	TOPMed
rs1281627289	p.Glu53Lys	missense variant	-	NC_000005.10:g.150521411G>A	gnomAD
rs140436588	p.Pro54Arg	missense variant	-	NC_000005.10:g.150521415C>G	ExAC,TOPMed,gnomAD
rs748167801	p.Asp55Glu	missense variant	-	NC_000005.10:g.150521419C>G	ExAC,gnomAD
rs540715914	p.Gly57Arg	missense variant	-	NC_000005.10:g.150521423G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1488597166	p.Asp58Ala	missense variant	-	NC_000005.10:g.150521427A>C	gnomAD
rs770708585	p.Asp58Tyr	missense variant	-	NC_000005.10:g.150521426G>T	ExAC,gnomAD
rs770708585	p.Asp58Asn	missense variant	-	NC_000005.10:g.150521426G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp58ThrPheSerTerUnkUnkUnk	frameshift	-	NC_000005.10:g.150521423G>-	NCI-TCGA
rs559367014	p.Pro59Leu	missense variant	-	NC_000005.10:g.150521430C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775828301	p.Pro60Leu	missense variant	-	NC_000005.10:g.150521433C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val62Leu	missense variant	-	NC_000005.10:g.150521438G>T	NCI-TCGA
rs764353194	p.Ala63Gly	missense variant	-	NC_000005.10:g.150521442C>G	ExAC,TOPMed,gnomAD
rs754214473	p.Pro64Ser	missense variant	-	NC_000005.10:g.150521444C>T	ExAC,gnomAD
rs1317721899	p.Ser65Gly	missense variant	-	NC_000005.10:g.150521447A>G	gnomAD
rs761957648	p.Arg66His	missense variant	-	NC_000005.10:g.150521451G>A	ExAC,gnomAD
rs1350481166	p.Arg66Cys	missense variant	-	NC_000005.10:g.150521450C>T	gnomAD
COSM6169980	p.Arg66Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521451G>T	NCI-TCGA Cosmic
rs750456010	p.Pro69Leu	missense variant	-	NC_000005.10:g.150521460C>T	ExAC,TOPMed,gnomAD
COSM737221	p.Pro69Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521459C>T	NCI-TCGA Cosmic
rs758451428	p.Leu70Phe	missense variant	-	NC_000005.10:g.150521462C>T	ExAC,gnomAD
rs545691216	p.Lys71Asn	missense variant	-	NC_000005.10:g.150521467G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1222065550	p.Val73Met	missense variant	-	NC_000005.10:g.150521471G>A	gnomAD
rs1222065550	p.Val73Leu	missense variant	-	NC_000005.10:g.150521471G>T	gnomAD
rs756138519	p.Val73Ala	missense variant	-	NC_000005.10:g.150521472T>C	ExAC
rs563878275	p.Ala75Gly	missense variant	-	NC_000005.10:g.150521478C>G	1000Genomes,ExAC,gnomAD
rs749123011	p.Ala76Val	missense variant	-	NC_000005.10:g.150521481C>T	ExAC,gnomAD
rs868838078	p.Thr77Ile	missense variant	-	NC_000005.10:g.150521484C>T	gnomAD
rs868838078	p.Thr77Asn	missense variant	-	NC_000005.10:g.150521484C>A	gnomAD
rs1224118318	p.Pro78Ala	missense variant	-	NC_000005.10:g.150521486C>G	gnomAD
NCI-TCGA novel	p.Pro78His	missense variant	-	NC_000005.10:g.150521487C>A	NCI-TCGA
rs145390254	p.Arg80Leu	missense variant	-	NC_000005.10:g.150521493G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000502374	p.Arg80His	missense variant	-	NC_000005.10:g.150521493G>A	ClinVar
rs770655306	p.Arg80Cys	missense variant	-	NC_000005.10:g.150521492C>T	ExAC,TOPMed,gnomAD
rs145390254	p.Arg80His	missense variant	-	NC_000005.10:g.150521493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000622785	p.Arg80His	missense variant	Inborn genetic diseases	NC_000005.10:g.150521493G>A	ClinVar
RCV000678274	p.Arg80His	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150521493G>A	ClinVar
rs771478008	p.Thr81Pro	missense variant	-	NC_000005.10:g.150521495A>C	ExAC,gnomAD
rs771478008	p.Thr81Ala	missense variant	-	NC_000005.10:g.150521495A>G	ExAC,gnomAD
rs896177805	p.Asp82Asn	missense variant	-	NC_000005.10:g.150521498G>A	TOPMed,gnomAD
rs370641189	p.Pro83Gln	missense variant	-	NC_000005.10:g.150521502C>A	ESP,ExAC,TOPMed,gnomAD
rs370641189	p.Pro83Leu	missense variant	-	NC_000005.10:g.150521502C>T	ESP,ExAC,TOPMed,gnomAD
rs1045644220	p.Val85Met	missense variant	-	NC_000005.10:g.150521507G>A	gnomAD
rs373986253	p.Val87Ile	missense variant	-	NC_000005.10:g.150521513G>A	ESP,ExAC,TOPMed,gnomAD
rs1410736188	p.Ser91Asn	missense variant	-	NC_000005.10:g.150521526G>A	gnomAD
rs1398339845	p.Leu92Val	missense variant	-	NC_000005.10:g.150521528C>G	TOPMed
rs1302936367	p.Ser94Leu	missense variant	-	NC_000005.10:g.150521535C>T	TOPMed
rs1397759604	p.Gln95Pro	missense variant	-	NC_000005.10:g.150521538A>C	TOPMed
rs766358150	p.Gly97Asp	missense variant	-	NC_000005.10:g.150521544G>A	ExAC,gnomAD
rs751678749	p.Gln98Arg	missense variant	-	NC_000005.10:g.150521547A>G	ExAC,gnomAD
rs755942206	p.Val101Leu	missense variant	-	NC_000005.10:g.150521555G>T	ExAC,gnomAD
rs986825914	p.Ile103Leu	missense variant	-	NC_000005.10:g.150521561A>C	TOPMed
NCI-TCGA novel	p.Glu105Gln	missense variant	-	NC_000005.10:g.150521567G>C	NCI-TCGA
rs757083883	p.Arg108His	missense variant	-	NC_000005.10:g.150521577G>A	ExAC,TOPMed,gnomAD
rs887501929	p.Arg108Cys	missense variant	-	NC_000005.10:g.150521576C>T	TOPMed,gnomAD
RCV000500299	p.Arg108His	missense variant	-	NC_000005.10:g.150521577G>A	ClinVar
rs778917661	p.Lys110Gln	missense variant	-	NC_000005.10:g.150521582A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys110Arg	missense variant	-	NC_000005.10:g.150521583A>G	NCI-TCGA
rs779363036	p.Arg112His	missense variant	-	NC_000005.10:g.150521589G>A	ExAC,TOPMed,gnomAD
rs138962514	p.Arg112Cys	missense variant	-	NC_000005.10:g.150521588C>T	ESP,ExAC,TOPMed,gnomAD
RCV000623829	p.Arg112Cys	missense variant	Inborn genetic diseases	NC_000005.10:g.150521588C>T	ClinVar
rs1199534048	p.Thr113Ser	missense variant	-	NC_000005.10:g.150521591A>T	TOPMed
rs1085307082	p.Glu114Ter	stop gained	-	NC_000005.10:g.150521594G>T	-
RCV000490491	p.Glu114Ter	nonsense	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150521594G>T	ClinVar
COSM1435208	p.Ile115Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521598T>A	NCI-TCGA Cosmic
rs142187384	p.Ala116Val	missense variant	-	NC_000005.10:g.150521601C>T	ESP,ExAC,TOPMed,gnomAD
rs868757423	p.Pro117Leu	missense variant	-	NC_000005.10:g.150521604C>T	gnomAD
rs1306915194	p.Gly120Arg	missense variant	-	NC_000005.10:g.150521612G>C	TOPMed
rs1407955085	p.Met122Thr	missense variant	-	NC_000005.10:g.150521619T>C	gnomAD
rs770142868	p.Thr124Met	missense variant	-	NC_000005.10:g.150521625C>T	ExAC,TOPMed,gnomAD
rs1389491054	p.Lys128Glu	missense variant	-	NC_000005.10:g.150521636A>G	TOPMed
rs763032316	p.Lys128Arg	missense variant	-	NC_000005.10:g.150521637A>G	ExAC,gnomAD
rs746465319	p.Arg130Cys	missense variant	-	NC_000005.10:g.150521642C>T	ExAC,gnomAD
rs148227466	p.Arg130His	missense variant	-	NC_000005.10:g.150521643G>A	ESP,ExAC,TOPMed,gnomAD
rs1459245534	p.Gly131Ser	missense variant	-	NC_000005.10:g.150521645G>A	TOPMed
rs141135213	p.Arg132Leu	missense variant	-	NC_000005.10:g.150521649G>T	ESP,ExAC,TOPMed,gnomAD
rs200193567	p.Arg132Cys	missense variant	-	NC_000005.10:g.150521648C>T	ESP,ExAC,TOPMed,gnomAD
rs141135213	p.Arg132His	missense variant	-	NC_000005.10:g.150521649G>A	ESP,ExAC,TOPMed,gnomAD
rs757320453	p.Ala134Thr	missense variant	-	NC_000005.10:g.150521654G>A	ExAC,TOPMed,gnomAD
rs1243077843	p.Ile136Val	missense variant	-	NC_000005.10:g.150521660A>G	gnomAD
rs1300715804	p.Tyr138Cys	missense variant	-	NC_000005.10:g.150521667A>G	gnomAD
NCI-TCGA novel	p.Glu139Asp	missense variant	-	NC_000005.10:g.150521671G>C	NCI-TCGA
rs150722562	p.Ala149Val	missense variant	-	NC_000005.10:g.150521700C>T	ESP,TOPMed,gnomAD
rs375384137	p.Ala149Ser	missense variant	-	NC_000005.10:g.150521699G>T	ESP,ExAC,TOPMed,gnomAD
rs375384137	p.Ala149Thr	missense variant	-	NC_000005.10:g.150521699G>A	ESP,ExAC,TOPMed,gnomAD
rs770302254	p.Arg152Trp	missense variant	-	NC_000005.10:g.150521708C>T	ExAC,gnomAD
rs773501881	p.Arg152Gln	missense variant	-	NC_000005.10:g.150521709G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu154Gln	missense variant	-	NC_000005.10:g.150521715T>A	NCI-TCGA
rs938813093	p.Asp156Glu	missense variant	-	NC_000005.10:g.150521722C>G	TOPMed
COSM3612546	p.Asp156Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521720G>A	NCI-TCGA Cosmic
rs749697505	p.Cys159Ser	missense variant	-	NC_000005.10:g.150521730G>C	ExAC,TOPMed,gnomAD
rs1238644207	p.Ala161Ser	missense variant	-	NC_000005.10:g.150521735G>T	TOPMed
rs773073595	p.Gly163Ser	missense variant	-	NC_000005.10:g.150521741G>A	gnomAD
NCI-TCGA novel	p.Val164Met	missense variant	-	NC_000005.10:g.150521744G>A	NCI-TCGA
COSM3852791	p.Gly165Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521747G>A	NCI-TCGA Cosmic
rs759741142	p.Ile167Thr	missense variant	-	NC_000005.10:g.150521754T>C	ExAC,gnomAD
rs1279417998	p.Lys171Glu	missense variant	-	NC_000005.10:g.150521765A>G	gnomAD
rs370225862	p.Ser179Gly	missense variant	-	NC_000005.10:g.150527825A>G	ESP,ExAC,gnomAD
rs374701769	p.Ala180Val	missense variant	-	NC_000005.10:g.150527829C>T	ESP,ExAC,TOPMed,gnomAD
rs368200657	p.Gln181Lys	missense variant	-	NC_000005.10:g.150527831C>A	ESP,gnomAD
rs757716084	p.Lys183Gln	missense variant	-	NC_000005.10:g.150527837A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu187CysPheSerTerUnk	frameshift	-	NC_000005.10:g.150527845C>-	NCI-TCGA
rs746264670	p.His190Tyr	missense variant	-	NC_000005.10:g.150527858C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn192Ser	missense variant	-	NC_000005.10:g.150527865A>G	NCI-TCGA
rs1299549960	p.Cys198Tyr	missense variant	-	NC_000005.10:g.150527883G>A	gnomAD
rs747276069	p.Cys198Gly	missense variant	-	NC_000005.10:g.150527882T>G	ExAC,gnomAD
rs776634682	p.Pro202Ser	missense variant	-	NC_000005.10:g.150527894C>T	ExAC,TOPMed,gnomAD
rs991860618	p.Pro205Leu	missense variant	-	NC_000005.10:g.150527904C>T	TOPMed,gnomAD
rs762892510	p.Pro205Ser	missense variant	-	NC_000005.10:g.150527903C>T	ExAC,gnomAD
COSM3852792	p.Tyr208Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150527913A>G	NCI-TCGA Cosmic
rs774158648	p.Val209Met	missense variant	-	NC_000005.10:g.150527915G>A	ExAC,TOPMed,gnomAD
rs767336817	p.Thr210Lys	missense variant	-	NC_000005.10:g.150527919C>A	ExAC,TOPMed,gnomAD
rs759353472	p.Thr210Ala	missense variant	-	NC_000005.10:g.150527918A>G	ExAC,gnomAD
rs767336817	p.Thr210Met	missense variant	-	NC_000005.10:g.150527919C>T	ExAC,TOPMed,gnomAD
RCV000500740	p.Thr210Met	missense variant	-	NC_000005.10:g.150527919C>T	ClinVar
rs143730864	p.Arg211Gln	missense variant	-	NC_000005.10:g.150527922G>A	ESP,ExAC,TOPMed,gnomAD
rs1309539410	p.Pro212Leu	missense variant	-	NC_000005.10:g.150527925C>T	gnomAD
rs763600387	p.Ser213Arg	missense variant	-	NC_000005.10:g.150527929C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser213Ter	stop gained	-	NC_000005.10:g.150527925_150527926insATAACAGTGG	NCI-TCGA
rs753290715	p.Glu214Lys	missense variant	-	NC_000005.10:g.150527930G>A	ExAC,TOPMed,gnomAD
rs763682949	p.Gly218Val	missense variant	-	NC_000005.10:g.150527943G>T	ExAC,TOPMed,gnomAD
rs763682949	p.Gly218Asp	missense variant	-	NC_000005.10:g.150527943G>A	ExAC,TOPMed,gnomAD
rs779309764	p.Val219Leu	missense variant	-	NC_000005.10:g.150527945G>T	ExAC,gnomAD
rs1180821576	p.Leu220Ile	missense variant	-	NC_000005.10:g.150527948C>A	gnomAD
rs1347410782	p.Pro221Ser	missense variant	-	NC_000005.10:g.150527951C>T	TOPMed
rs758804616	p.Gly222Ser	missense variant	-	NC_000005.10:g.150527954G>A	ExAC,TOPMed,gnomAD
rs747223010	p.Glu223Lys	missense variant	-	NC_000005.10:g.150527957G>A	ExAC,gnomAD
rs1372128382	p.Asp224His	missense variant	-	NC_000005.10:g.150527960G>C	TOPMed
rs147230606	p.Thr226Met	missense variant	-	NC_000005.10:g.150527967C>T	ESP,ExAC,TOPMed,gnomAD
rs1404563079	p.Val227Ile	missense variant	-	NC_000005.10:g.150527969G>A	gnomAD
rs1290116298	p.Ser230Leu	missense variant	-	NC_000005.10:g.150527979C>T	TOPMed
rs1374488689	p.Tyr235Cys	missense variant	-	NC_000005.10:g.150527994A>G	TOPMed
rs1171288303	p.Val238Ala	missense variant	-	NC_000005.10:g.150528003T>C	TOPMed
NCI-TCGA novel	p.Val238Leu	missense variant	-	NC_000005.10:g.150528002G>C	NCI-TCGA
rs745869251	p.Lys242Glu	missense variant	-	NC_000005.10:g.150528014A>G	ExAC,TOPMed,gnomAD
rs149727326	p.Thr243Met	missense variant	-	NC_000005.10:g.150528018C>T	ESP,ExAC,TOPMed,gnomAD
rs149727326	p.Thr243Met	missense variant	-	NC_000005.10:g.150528018C>T	NCI-TCGA
rs375092472	p.Arg244Ser	missense variant	-	NC_000005.10:g.150528020C>A	ESP,ExAC,TOPMed,gnomAD
rs375092472	p.Arg244Cys	missense variant	-	NC_000005.10:g.150528020C>T	ESP,ExAC,TOPMed,gnomAD
rs545657188	p.Arg244His	missense variant	-	NC_000005.10:g.150528021G>A	1000Genomes,TOPMed,gnomAD
rs545657188	p.Arg244Leu	missense variant	-	NC_000005.10:g.150528021G>T	1000Genomes,TOPMed,gnomAD
RCV000502036	p.Arg244Cys	missense variant	-	NC_000005.10:g.150528020C>T	ClinVar
rs144719078	p.Ser245Leu	missense variant	-	NC_000005.10:g.150528024C>T	ESP
NCI-TCGA novel	p.Glu247Gln	missense variant	-	NC_000005.10:g.150528029G>C	NCI-TCGA
rs781638425	p.Ser248Phe	missense variant	-	NC_000005.10:g.150528033C>T	ExAC,TOPMed,gnomAD
rs142755613	p.Leu252Pro	missense variant	-	NC_000005.10:g.150528045T>C	ESP,ExAC,TOPMed,gnomAD
rs142755613	p.Leu252Arg	missense variant	-	NC_000005.10:g.150528045T>G	ESP,ExAC,TOPMed,gnomAD
rs146548363	p.Ala254Thr	missense variant	-	NC_000005.10:g.150528050G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141266229	p.Ala256Thr	missense variant	-	NC_000005.10:g.150528056G>A	ESP,ExAC,gnomAD
rs756139129	p.Gly257Arg	missense variant	-	NC_000005.10:g.150528059G>C	ExAC,TOPMed,gnomAD
rs756139129	p.Gly257Ser	missense variant	-	NC_000005.10:g.150528059G>A	ExAC,TOPMed,gnomAD
rs932964780	p.His259Leu	missense variant	-	NC_000005.10:g.150528066A>T	TOPMed
rs932964780	p.His259Arg	missense variant	-	NC_000005.10:g.150528066A>G	TOPMed
rs1460226885	p.Ala260Thr	missense variant	-	NC_000005.10:g.150528068G>A	TOPMed
rs1418499236	p.Leu262Met	missense variant	-	NC_000005.10:g.150528074C>A	TOPMed,gnomAD
rs1034496595	p.Leu262Pro	missense variant	-	NC_000005.10:g.150528075T>C	TOPMed
rs1346413247	p.His263Tyr	missense variant	-	NC_000005.10:g.150528077C>T	gnomAD
rs144099500	p.Ala264Thr	missense variant	-	NC_000005.10:g.150528080G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1218511902	p.Leu270Arg	missense variant	-	NC_000005.10:g.150528099T>G	gnomAD
rs1318156238	p.Leu272Pro	missense variant	-	NC_000005.10:g.150528105T>C	gnomAD
RCV000503071	p.His273Tyr	missense variant	-	NC_000005.10:g.150528107C>T	ClinVar
rs1261991074	p.His273Tyr	missense variant	-	NC_000005.10:g.150528107C>T	gnomAD
rs942941060	p.His273Leu	missense variant	-	NC_000005.10:g.150528108A>T	TOPMed
rs1040288040	p.Gly275Ser	missense variant	-	NC_000005.10:g.150528113G>A	TOPMed,gnomAD
rs761584248	p.Ile276Asn	missense variant	-	NC_000005.10:g.150528117T>A	ExAC,gnomAD
rs772851364	p.Gln277Arg	missense variant	-	NC_000005.10:g.150528120A>G	ExAC,gnomAD
rs140652741	p.Arg278His	missense variant	-	NC_000005.10:g.150528123G>A	ESP,ExAC,gnomAD
rs150461859	p.Val279Leu	missense variant	-	NC_000005.10:g.150528125G>C	ESP,ExAC,TOPMed,gnomAD
rs150461859	p.Val279Leu	missense variant	-	NC_000005.10:g.150528125G>T	ESP,ExAC,TOPMed,gnomAD
rs150461859	p.Val279Met	missense variant	-	NC_000005.10:g.150528125G>A	ESP,ExAC,TOPMed,gnomAD
rs569758058	p.Asn283His	missense variant	-	NC_000005.10:g.150528137A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs569758058	p.Asn283Tyr	missense variant	-	NC_000005.10:g.150528137A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777774950	p.Asn284Ser	missense variant	-	NC_000005.10:g.150528141A>G	ExAC,TOPMed,gnomAD
rs1327687606	p.Leu285Arg	missense variant	-	NC_000005.10:g.150528144T>G	TOPMed
rs749395237	p.Phe287Leu	missense variant	-	NC_000005.10:g.150528151C>G	ExAC,TOPMed,gnomAD
COSM1064373	p.Trp288Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150528154G>A	NCI-TCGA Cosmic
rs931213084	p.Lys291Gln	missense variant	-	NC_000005.10:g.150528161A>C	TOPMed,gnomAD
rs1237283391	p.Lys291Arg	missense variant	-	NC_000005.10:g.150528162A>G	gnomAD
rs931213084	p.Lys291Glu	missense variant	-	NC_000005.10:g.150528161A>G	TOPMed,gnomAD
rs747017483	p.Val295Met	missense variant	-	NC_000005.10:g.150528173G>A	ExAC,TOPMed,gnomAD
rs747017483	p.Val295Met	missense variant	-	NC_000005.10:g.150528173G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000489709	p.Val295Met	missense variant	-	NC_000005.10:g.150528173G>A	ClinVar
NCI-TCGA novel	p.Ala297Thr	missense variant	-	NC_000005.10:g.150528179G>A	NCI-TCGA
rs781107915	p.Val298Met	missense variant	-	NC_000005.10:g.150528182G>A	ExAC,gnomAD
rs781107915	p.Val298Leu	missense variant	-	NC_000005.10:g.150528182G>T	ExAC,gnomAD
rs747688028	p.Ala299Gly	missense variant	-	NC_000005.10:g.150528186C>G	ExAC,TOPMed,gnomAD
rs772797945	p.Phe300Val	missense variant	-	NC_000005.10:g.150528188T>G	ExAC,gnomAD
rs762580262	p.Thr302Ser	missense variant	-	NC_000005.10:g.150528194A>T	ExAC,gnomAD
rs148852608	p.Thr302Met	missense variant	-	NC_000005.10:g.150528195C>T	ExAC,TOPMed,gnomAD
rs148852608	p.Thr302Met	missense variant	-	NC_000005.10:g.150528195C>T	NCI-TCGA
rs767036872	p.Gly303Glu	missense variant	-	NC_000005.10:g.150528198G>A	ExAC,TOPMed,gnomAD
rs199755956	p.Arg305Cys	missense variant	-	NC_000005.10:g.150528203C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200616920	p.Arg305His	missense variant	-	NC_000005.10:g.150528204G>A	ESP,ExAC,TOPMed,gnomAD
rs200616920	p.Arg305His	missense variant	-	NC_000005.10:g.150528204G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1444550577	p.Ser307Pro	missense variant	-	NC_000005.10:g.150528209T>C	gnomAD
rs1308463686	p.Ser307Phe	missense variant	-	NC_000005.10:g.150528210C>T	gnomAD
rs143420319	p.Pro309Thr	missense variant	-	NC_000005.10:g.150528215C>A	ESP
rs768860349	p.Arg312Cys	missense variant	-	NC_000005.10:g.150528224C>T	ExAC,TOPMed,gnomAD
rs779022603	p.Arg312His	missense variant	-	NC_000005.10:g.150528225G>A	ExAC,TOPMed,gnomAD
rs1275618642	p.Ile314Met	missense variant	-	NC_000005.10:g.150528232C>G	TOPMed,gnomAD
COSM6169979	p.Asp317Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150528239G>T	NCI-TCGA Cosmic
rs1043066682	p.Ile318Val	missense variant	-	NC_000005.10:g.150528242A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile321Met	missense variant	-	NC_000005.10:g.150528253C>G	NCI-TCGA
rs1392222515	p.Val323Leu	missense variant	-	NC_000005.10:g.150528257G>C	TOPMed
NCI-TCGA novel	p.Val323Met	missense variant	-	NC_000005.10:g.150528257G>A	NCI-TCGA
rs780790768	p.Lys325Arg	missense variant	-	NC_000005.10:g.150528264A>G	ExAC,gnomAD
rs1325372759	p.Gly327Asp	missense variant	-	NC_000005.10:g.150528270G>A	TOPMed
rs1185571782	p.Thr328Lys	missense variant	-	NC_000005.10:g.150528273C>A	gnomAD
rs747996016	p.Arg329Pro	missense variant	-	NC_000005.10:g.150528276G>C	ExAC,gnomAD
rs747996016	p.Arg329His	missense variant	-	NC_000005.10:g.150528276G>A	ExAC,gnomAD
rs747996016	p.Arg329His	missense variant	-	NC_000005.10:g.150528276G>A	NCI-TCGA
rs1368083956	p.Arg329Cys	missense variant	-	NC_000005.10:g.150528275C>T	gnomAD
COSM737220	p.Arg329Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150528276G>T	NCI-TCGA Cosmic
rs777533136	p.Val332Leu	missense variant	-	NC_000005.10:g.150528284G>T	ExAC,gnomAD
rs777533136	p.Val332Met	missense variant	-	NC_000005.10:g.150528284G>A	ExAC,gnomAD
rs200286652	p.Val335Met	missense variant	-	NC_000005.10:g.150528293G>A	ExAC,gnomAD
rs747573686	p.Phe339Ser	missense variant	-	NC_000005.10:g.150532952T>C	ExAC,gnomAD
rs1453825359	p.Phe339Leu	missense variant	-	NC_000005.10:g.150532953T>G	gnomAD
rs1159973626	p.Asp340Gly	missense variant	-	NC_000005.10:g.150532955A>G	gnomAD
rs776984233	p.Glu344Lys	missense variant	-	NC_000005.10:g.150532966G>A	ExAC,gnomAD
rs776984233	p.Glu344Lys	missense variant	-	NC_000005.10:g.150532966G>A	NCI-TCGA,NCI-TCGA Cosmic
rs765517040	p.Arg346Cys	missense variant	-	NC_000005.10:g.150532972C>T	ExAC,gnomAD
rs1385484863	p.Arg346His	missense variant	-	NC_000005.10:g.150532973G>A	gnomAD
rs141240993	p.Ala347Thr	missense variant	-	NC_000005.10:g.150532975G>A	ESP,ExAC,TOPMed,gnomAD
rs756183118	p.Asn355Lys	missense variant	-	NC_000005.10:g.150533001C>G	ExAC,gnomAD
rs763929007	p.Tyr358Phe	missense variant	-	NC_000005.10:g.150533009A>T	ExAC,TOPMed,gnomAD
rs1436915407	p.His364Tyr	missense variant	-	NC_000005.10:g.150533026C>T	gnomAD
COSM737219	p.His364Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150533027A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr365Ser	missense variant	-	NC_000005.10:g.150533029A>T	NCI-TCGA
rs1207890832	p.Gly366Ser	missense variant	-	NC_000005.10:g.150533032G>A	gnomAD
rs1164509039	p.Ala369Thr	missense variant	-	NC_000005.10:g.150534875G>A	gnomAD
rs377365968	p.Ala372Thr	missense variant	-	NC_000005.10:g.150534884G>A	ESP,ExAC,TOPMed,gnomAD
rs377365968	p.Ala372Ser	missense variant	-	NC_000005.10:g.150534884G>T	ESP,ExAC,TOPMed,gnomAD
rs377365968	p.Ala372Thr	missense variant	-	NC_000005.10:g.150534884G>A	NCI-TCGA
rs1329844489	p.Ser379Leu	missense variant	-	NC_000005.10:g.150534906C>T	TOPMed,gnomAD
rs748699863	p.Trp385Arg	missense variant	-	NC_000005.10:g.150534923T>C	ExAC,TOPMed,gnomAD
rs1228451284	p.Trp385Ser	missense variant	-	NC_000005.10:g.150534924G>C	TOPMed
rs770178778	p.Met390Ile	missense variant	-	NC_000005.10:g.150534940G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met390Thr	missense variant	-	NC_000005.10:g.150534939T>C	NCI-TCGA
rs778062322	p.Ser392Arg	missense variant	-	NC_000005.10:g.150534946C>A	ExAC,gnomAD
rs1334381648	p.Pro396Ser	missense variant	-	NC_000005.10:g.150534956C>T	TOPMed
NCI-TCGA novel	p.His397Leu	missense variant	-	NC_000005.10:g.150534960A>T	NCI-TCGA
NCI-TCGA novel	p.His400Tyr	missense variant	-	NC_000005.10:g.150534968C>T	NCI-TCGA
rs1291857221	p.Asn401Asp	missense variant	-	NC_000005.10:g.150534971A>G	TOPMed
rs1235493814	p.Gln402Arg	missense variant	-	NC_000005.10:g.150534975A>G	TOPMed
rs371020778	p.Val404Met	missense variant	-	NC_000005.10:g.150534980G>A	ESP,ExAC,gnomAD
rs1328755084	p.Ala406Val	missense variant	-	NC_000005.10:g.150534987C>T	TOPMed
rs920466423	p.Glu407Lys	missense variant	-	NC_000005.10:g.150534989G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln408Ter	stop gained	-	NC_000005.10:g.150534992C>T	NCI-TCGA
COSM3852793	p.Ala410Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150534998G>A	NCI-TCGA Cosmic
rs1180877278	p.Lys413Asn	missense variant	-	NC_000005.10:g.150535009G>T	gnomAD
rs772329738	p.Phe415Leu	missense variant	-	NC_000005.10:g.150535015C>G	ExAC,TOPMed,gnomAD
rs1478993046	p.Ala416Thr	missense variant	-	NC_000005.10:g.150535016G>A	gnomAD
rs1478993046	p.Ala416Ser	missense variant	-	NC_000005.10:g.150535016G>T	gnomAD
rs1478993046	p.Ala416Thr	missense variant	-	NC_000005.10:g.150535016G>A	NCI-TCGA
rs765016122	p.Val417Asp	missense variant	-	NC_000005.10:g.150535020T>A	ExAC,TOPMed,gnomAD
rs761725626	p.Val417Phe	missense variant	-	NC_000005.10:g.150535019G>T	ExAC,gnomAD
rs761725626	p.Val417Ile	missense variant	-	NC_000005.10:g.150535019G>A	ExAC,gnomAD
rs759249762	p.Glu418Gly	missense variant	-	NC_000005.10:g.150535701A>G	ExAC,gnomAD
rs1245456252	p.Gly420Asp	missense variant	-	NC_000005.10:g.150535707G>A	gnomAD
rs1245456252	p.Gly420Asp	missense variant	-	NC_000005.10:g.150535707G>A	NCI-TCGA Cosmic
rs1177841215	p.Pro422His	missense variant	-	NC_000005.10:g.150535713C>A	TOPMed,gnomAD
rs1177841215	p.Pro422Leu	missense variant	-	NC_000005.10:g.150535713C>T	TOPMed,gnomAD
rs373375818	p.Thr423Ile	missense variant	-	NC_000005.10:g.150535716C>T	ESP,TOPMed
rs1382191228	p.Thr423Ala	missense variant	-	NC_000005.10:g.150535715A>G	TOPMed,gnomAD
rs769094227	p.Asp424Asn	missense variant	-	NC_000005.10:g.150535718G>A	ExAC,gnomAD
rs1158236589	p.Tyr427Cys	missense variant	-	NC_000005.10:g.150535728A>G	gnomAD
rs1200683958	p.Ala428Thr	missense variant	-	NC_000005.10:g.150535730G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala428Val	missense variant	-	NC_000005.10:g.150535731C>T	NCI-TCGA
rs1386142350	p.Ala430Val	missense variant	-	NC_000005.10:g.150535737C>T	gnomAD
rs1405703587	p.His433Asn	missense variant	-	NC_000005.10:g.150535745C>A	gnomAD
rs1348032579	p.Ser434Leu	missense variant	-	NC_000005.10:g.150535749C>T	gnomAD
rs1452233216	p.Gly435Val	missense variant	-	NC_000005.10:g.150535752G>T	TOPMed
rs754419698	p.Val436Met	missense variant	-	NC_000005.10:g.150535754G>A	NCI-TCGA
rs754419698	p.Val436Met	missense variant	-	NC_000005.10:g.150535754G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val436Ala	missense variant	-	NC_000005.10:g.150535755T>C	NCI-TCGA
rs1440221859	p.Tyr437Phe	missense variant	-	NC_000005.10:g.150535758A>T	gnomAD
COSM4877102	p.Tyr437His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150535757T>C	NCI-TCGA Cosmic
rs1263244153	p.Val439Met	missense variant	-	NC_000005.10:g.150535763G>A	TOPMed,gnomAD
rs746022379	p.Val441Leu	missense variant	-	NC_000005.10:g.150535769G>T	ExAC,gnomAD
rs746022379	p.Val441Met	missense variant	-	NC_000005.10:g.150535769G>A	ExAC,gnomAD
rs746022379	p.Val441Met	missense variant	-	NC_000005.10:g.150535769G>A	NCI-TCGA,NCI-TCGA Cosmic
rs747089755	p.Glu445Lys	missense variant	-	NC_000005.10:g.150535781G>A	ExAC,TOPMed,gnomAD
rs1199751014	p.Trp447Ter	stop gained	-	NC_000005.10:g.150535788G>A	gnomAD
rs1240610311	p.Lys448Glu	missense variant	-	NC_000005.10:g.150535790A>G	gnomAD
rs768818614	p.Gln449Arg	missense variant	-	NC_000005.10:g.150535794A>G	ExAC,gnomAD
rs1488549449	p.Ser452Asn	missense variant	-	NC_000005.10:g.150535803G>A	TOPMed
rs749302769	p.Arg454His	missense variant	-	NC_000005.10:g.150535809G>A	ExAC,TOPMed,gnomAD
RCV000660596	p.Arg454Cys	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150535808C>T	ClinVar
rs150009231	p.Arg454Cys	missense variant	-	NC_000005.10:g.150535808C>T	ESP,ExAC,TOPMed,gnomAD
rs150009231	p.Arg454Cys	missense variant	-	NC_000005.10:g.150535808C>T	NCI-TCGA
rs1411275321	p.Val455Met	missense variant	-	NC_000005.10:g.150535811G>A	gnomAD
rs1171241571	p.Ser457Gly	missense variant	-	NC_000005.10:g.150535817A>G	gnomAD
rs1402434835	p.Thr458Met	missense variant	-	NC_000005.10:g.150535821C>T	gnomAD
rs1214134980	p.Glu460Gly	missense variant	-	NC_000005.10:g.150535827A>G	TOPMed
rs1340689021	p.His463Asn	missense variant	-	NC_000005.10:g.150535835C>A	gnomAD
rs1360324160	p.Leu464Val	missense variant	-	NC_000005.10:g.150535838C>G	TOPMed
rs1282075506	p.Pro466Ala	missense variant	-	NC_000005.10:g.150535844C>G	TOPMed,gnomAD
rs772602993	p.Arg468Cys	missense variant	-	NC_000005.10:g.150535850C>T	ExAC,TOPMed,gnomAD
rs763721142	p.Arg468His	missense variant	-	NC_000005.10:g.150535851G>A	ExAC,gnomAD
rs754297456	p.Arg470His	missense variant	-	NC_000005.10:g.150535857G>A	ExAC,gnomAD
rs754297456	p.Arg470His	missense variant	-	NC_000005.10:g.150535857G>A	NCI-TCGA,NCI-TCGA Cosmic
rs746257815	p.Arg470Cys	missense variant	-	NC_000005.10:g.150535856C>T	gnomAD
rs370958231	p.Arg471His	missense variant	-	NC_000005.10:g.150535860G>A	ExAC,gnomAD
rs182500942	p.Arg471Cys	missense variant	-	NC_000005.10:g.150535859C>T	1000Genomes,gnomAD
rs182500942	p.Arg471Cys	missense variant	-	NC_000005.10:g.150535859C>T	NCI-TCGA
rs1444215146	p.His475Gln	missense variant	-	NC_000005.10:g.150535873C>A	gnomAD
rs537879672	p.Asn476Ser	missense variant	-	NC_000005.10:g.150535875A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1432317435	p.Gly477Asp	missense variant	-	NC_000005.10:g.150535878G>A	TOPMed
rs556563253	p.Gly477Ser	missense variant	-	NC_000005.10:g.150535877G>A	1000Genomes,ExAC,gnomAD
rs1194177554	p.Met479Ile	missense variant	-	NC_000005.10:g.150535885G>A	gnomAD
rs1474740356	p.Met479Val	missense variant	-	NC_000005.10:g.150535883A>G	gnomAD
rs907176822	p.Met479Lys	missense variant	-	NC_000005.10:g.150535884T>A	TOPMed
COSM1064379	p.Val480Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150539228G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu481Ile	missense variant	-	NC_000005.10:g.150539231C>A	NCI-TCGA
rs1354507217	p.Pro482Leu	missense variant	-	NC_000005.10:g.150539235C>T	gnomAD
rs756229591	p.Arg483Gln	missense variant	-	NC_000005.10:g.150539238G>A	ExAC,gnomAD
rs1484836650	p.Arg483Trp	missense variant	-	NC_000005.10:g.150539237C>T	TOPMed
rs745867567	p.Leu488Val	missense variant	-	NC_000005.10:g.150539252C>G	ExAC,gnomAD
rs1393899837	p.His491Arg	missense variant	-	NC_000005.10:g.150539262A>G	gnomAD
NCI-TCGA novel	p.Ile493ProPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.150539256_150539257insCA	NCI-TCGA
rs1322575564	p.Asn496Ser	missense variant	-	NC_000005.10:g.150539277A>G	TOPMed
rs1378141295	p.Glu497Lys	missense variant	-	NC_000005.10:g.150539279G>A	gnomAD
NCI-TCGA novel	p.Tyr498His	missense variant	-	NC_000005.10:g.150539282T>C	NCI-TCGA
rs1225579460	p.Pro499Ser	missense variant	-	NC_000005.10:g.150539285C>T	TOPMed
rs1286119272	p.Gly501Cys	missense variant	-	NC_000005.10:g.150539291G>T	TOPMed,gnomAD
rs1286119272	p.Gly501Ser	missense variant	-	NC_000005.10:g.150539291G>A	TOPMed,gnomAD
rs1294544711	p.Ser503Arg	missense variant	-	NC_000005.10:g.150539297A>C	gnomAD
rs1393510278	p.Ser503Thr	missense variant	-	NC_000005.10:g.150539298G>C	gnomAD
rs926691331	p.Glu504Asp	missense variant	-	NC_000005.10:g.150539302G>C	TOPMed,gnomAD
rs1321829840	p.Leu505Pro	missense variant	-	NC_000005.10:g.150539304T>C	TOPMed
COSM1064380	p.Asp506Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150539306G>T	NCI-TCGA Cosmic
rs761374750	p.Ile508Asn	missense variant	-	NC_000005.10:g.150539313T>A	ExAC,gnomAD
rs769475700	p.Ile508Met	missense variant	-	NC_000005.10:g.150539314C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile508Phe	missense variant	-	NC_000005.10:g.150539312A>T	NCI-TCGA
rs938073124	p.Asn510Ser	missense variant	-	NC_000005.10:g.150539319A>G	TOPMed
NCI-TCGA novel	p.Asn510Ile	missense variant	-	NC_000005.10:g.150539319A>T	NCI-TCGA
rs1219511787	p.Glu513Lys	missense variant	-	NC_000005.10:g.150539327G>A	TOPMed,gnomAD
rs1191800413	p.Thr517Ile	missense variant	-	NC_000005.10:g.150539340C>T	TOPMed
rs373036695	p.Val518Met	missense variant	-	NC_000005.10:g.150539342G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn521Ser	missense variant	-	NC_000005.10:g.150539352A>G	NCI-TCGA
rs1259589895	p.Ile525Val	missense variant	-	NC_000005.10:g.150540088A>G	gnomAD
rs1259589895	p.Ile525Leu	missense variant	-	NC_000005.10:g.150540088A>C	gnomAD
COSM288234	p.Phe526Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540092T>G	NCI-TCGA Cosmic
rs146869691	p.Met527Leu	missense variant	-	NC_000005.10:g.150540094A>T	ESP,ExAC,gnomAD
COSM1064381	p.Leu530Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540104T>C	NCI-TCGA Cosmic
rs746431565	p.Ser531Pro	missense variant	-	NC_000005.10:g.150540106T>C	ExAC,gnomAD
rs1020582646	p.Arg537His	missense variant	-	NC_000005.10:g.150540125G>A	TOPMed
rs775849833	p.Gly539Ser	missense variant	-	NC_000005.10:g.150540130G>A	ExAC,gnomAD
rs775849833	p.Gly539Ser	missense variant	-	NC_000005.10:g.150540130G>A	NCI-TCGA,NCI-TCGA Cosmic
rs760839553	p.Leu540Pro	missense variant	-	NC_000005.10:g.150540134T>C	ExAC,gnomAD
rs903490051	p.Thr542Ala	missense variant	-	NC_000005.10:g.150540139A>G	TOPMed,gnomAD
rs1000776454	p.His545Gln	missense variant	-	NC_000005.10:g.150540150C>G	TOPMed,gnomAD
rs1401648515	p.Leu546Val	missense variant	-	NC_000005.10:g.150540151C>G	NCI-TCGA
rs1401648515	p.Leu546Val	missense variant	-	NC_000005.10:g.150540151C>G	gnomAD
rs1410444517	p.Val547Met	missense variant	-	NC_000005.10:g.150540154G>A	TOPMed
rs201365274	p.Arg548Leu	missense variant	-	NC_000005.10:g.150540158G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1219286910	p.Arg548Cys	missense variant	-	NC_000005.10:g.150540157C>T	TOPMed,gnomAD
rs201365274	p.Arg548His	missense variant	-	NC_000005.10:g.150540158G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765289660	p.Phe549Leu	missense variant	-	NC_000005.10:g.150540160T>C	ExAC,gnomAD
COSM1064383	p.Thr554Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540176C>T	NCI-TCGA Cosmic
rs1467412171	p.Leu556Val	missense variant	-	NC_000005.10:g.150540181C>G	gnomAD
rs548986879	p.Arg557Trp	missense variant	-	NC_000005.10:g.150540184C>T	ExAC,gnomAD
rs777533122	p.Arg557Gln	missense variant	-	NC_000005.10:g.150540185G>A	ExAC,TOPMed,gnomAD
rs548986879	p.Arg557Trp	missense variant	-	NC_000005.10:g.150540184C>T	NCI-TCGA
rs748954035	p.Pro562Ser	missense variant	-	NC_000005.10:g.150540199C>T	ExAC,gnomAD
rs778295416	p.Pro563Leu	missense variant	-	NC_000005.10:g.150540203C>T	ExAC,gnomAD
rs756789556	p.Pro563Ser	missense variant	-	NC_000005.10:g.150540202C>T	ExAC,TOPMed,gnomAD
rs756789556	p.Pro563Ala	missense variant	-	NC_000005.10:g.150540202C>G	ExAC,TOPMed,gnomAD
rs774976739	p.Val564Met	missense variant	-	NC_000005.10:g.150540205G>A	ExAC,TOPMed,gnomAD
RCV000765824	p.Val564Leu	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150540205G>C	ClinVar
RCV000513056	p.Val564Leu	missense variant	-	NC_000005.10:g.150540205G>C	ClinVar
rs774976739	p.Val564Leu	missense variant	-	NC_000005.10:g.150540205G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu566Trp	missense variant	-	NC_000005.10:g.150540212T>G	NCI-TCGA
COSM1064384	p.Tyr570His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540223T>C	NCI-TCGA Cosmic
rs992384234	p.Gln572Ter	stop gained	-	NC_000005.10:g.150540229C>T	TOPMed
rs1024786629	p.Ser575Phe	missense variant	-	NC_000005.10:g.150540239C>T	TOPMed
rs1024786629	p.Ser575Phe	missense variant	-	NC_000005.10:g.150540239C>T	NCI-TCGA Cosmic
rs151090184	p.Glu576Lys	missense variant	-	NC_000005.10:g.150540241G>A	ESP,ExAC,gnomAD
rs151090184	p.Glu576Gln	missense variant	-	NC_000005.10:g.150540241G>C	ESP,ExAC,gnomAD
rs763682889	p.Asp579Gly	missense variant	-	NC_000005.10:g.150540251A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro580Leu	missense variant	-	NC_000005.10:g.150540254C>T	NCI-TCGA
NCI-TCGA novel	p.Asp584His	missense variant	-	NC_000005.10:g.150541570G>C	NCI-TCGA
rs1359429635	p.Pro585Leu	missense variant	-	NC_000005.10:g.150541574C>T	gnomAD
rs750126972	p.Glu587Gly	missense variant	-	NC_000005.10:g.150541580A>G	ExAC,TOPMed,gnomAD
rs1291890754	p.Glu587Lys	missense variant	-	NC_000005.10:g.150541579G>A	NCI-TCGA
rs750126972	p.Glu587Val	missense variant	-	NC_000005.10:g.150541580A>T	ExAC,TOPMed,gnomAD
rs1291890754	p.Glu587Lys	missense variant	-	NC_000005.10:g.150541579G>A	TOPMed,gnomAD
rs757892804	p.Asp588Glu	missense variant	-	NC_000005.10:g.150541584C>G	ExAC,gnomAD
rs1287119644	p.Arg590Cys	missense variant	-	NC_000005.10:g.150541588C>T	TOPMed
rs779604955	p.Arg590His	missense variant	-	NC_000005.10:g.150541589G>A	ExAC,gnomAD
rs894747610	p.Lys592Glu	missense variant	-	NC_000005.10:g.150541594A>G	TOPMed
NCI-TCGA novel	p.Ile594LeuPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.150541599_150541600insCTTTCCTT	NCI-TCGA
rs1195353917	p.Trp595Leu	missense variant	-	NC_000005.10:g.150541604G>T	gnomAD
NCI-TCGA novel	p.Trp595CysPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.150541601_150541602insTTGTAAAATGCAAA	NCI-TCGA
rs202203750	p.Ser596Ala	missense variant	-	NC_000005.10:g.150541606T>G	TOPMed
rs202203750	p.Ser596Pro	missense variant	-	NC_000005.10:g.150541606T>C	TOPMed
COSM3852795	p.Glu598Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150541612G>A	NCI-TCGA Cosmic
rs756538941	p.Arg603Leu	missense variant	-	NC_000005.10:g.150541628G>T	ExAC,TOPMed,gnomAD
rs748488030	p.Arg603Cys	missense variant	-	NC_000005.10:g.150541627C>T	ExAC,TOPMed,gnomAD
rs756538941	p.Arg603His	missense variant	-	NC_000005.10:g.150541628G>A	ExAC,TOPMed,gnomAD
rs1474771550	p.Lys606Glu	missense variant	-	NC_000005.10:g.150541636A>G	gnomAD
COSM1435211	p.Lys606Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150541637A>C	NCI-TCGA Cosmic
rs749576849	p.Ile610Val	missense variant	-	NC_000005.10:g.150541648A>G	ExAC,gnomAD
rs606231459	p.Gly611Ser	missense variant	-	NC_000005.10:g.150541651G>A	ExAC,gnomAD
rs606231459	p.Gly611Ser	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150541651G>A	UniProt,dbSNP
VAR_072646	p.Gly611Ser	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150541651G>A	UniProt
RCV000148928	p.Gly611Ser	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150541651G>A	ClinVar
rs1295693644	p.Thr617Ile	missense variant	-	NC_000005.10:g.150542851C>T	gnomAD
rs769407428	p.Thr618Ala	missense variant	-	NC_000005.10:g.150542853A>G	ExAC,gnomAD
rs1251650218	p.Ala619Asp	missense variant	-	NC_000005.10:g.150542857C>A	TOPMed
rs1262198889	p.Leu620Phe	missense variant	-	NC_000005.10:g.150542859C>T	gnomAD
NCI-TCGA novel	p.Phe623Val	missense variant	-	NC_000005.10:g.150542868T>G	NCI-TCGA
rs1209640795	p.Met626Val	missense variant	-	NC_000005.10:g.150542877A>G	TOPMed
rs766050569	p.His627Tyr	missense variant	-	NC_000005.10:g.150542880C>T	ExAC,gnomAD
rs774028648	p.Pro628Ala	missense variant	-	NC_000005.10:g.150542883C>G	ExAC,gnomAD
rs1251991217	p.Tyr634Cys	missense variant	-	NC_000005.10:g.150542902A>G	gnomAD
rs753137532	p.Pro635Ala	missense variant	-	NC_000005.10:g.150542904C>G	ExAC,gnomAD
rs1270890209	p.Pro635Leu	missense variant	-	NC_000005.10:g.150542905C>T	TOPMed
rs753137532	p.Pro635Thr	missense variant	-	NC_000005.10:g.150542904C>A	ExAC,gnomAD
rs756660358	p.Ser636Arg	missense variant	-	NC_000005.10:g.150542909C>A	ExAC,gnomAD
rs764507688	p.Glu638Gln	missense variant	-	NC_000005.10:g.150542913G>C	ExAC
rs606231458	p.Phe640Leu	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542919T>C	UniProt,dbSNP
VAR_072647	p.Phe640Leu	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542919T>C	UniProt
rs606231458	p.Phe640Leu	missense variant	-	NC_000005.10:g.150542919T>C	-
rs1233152941	p.Phe640Ser	missense variant	-	NC_000005.10:g.150542920T>C	TOPMed,gnomAD
RCV000148927	p.Phe640Leu	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542919T>C	ClinVar
rs606231457	p.Glu642Asp	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542927G>T	UniProt,dbSNP
VAR_072648	p.Glu642Asp	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542927G>T	UniProt
rs606231457	p.Glu642Asp	missense variant	-	NC_000005.10:g.150542927G>T	-
RCV000148926	p.Glu642Asp	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542927G>T	ClinVar
rs754289771	p.Ile643Phe	missense variant	-	NC_000005.10:g.150542928A>T	ExAC,gnomAD
rs757740184	p.Asn647Asp	missense variant	-	NC_000005.10:g.150542940A>G	ExAC,gnomAD
rs779255223	p.His649Pro	missense variant	-	NC_000005.10:g.150542947A>C	ExAC,gnomAD
rs1325383302	p.Asn650Ser	missense variant	-	NC_000005.10:g.150542950A>G	TOPMed,gnomAD
rs182542706	p.His652Leu	missense variant	-	NC_000005.10:g.150542956A>T	1000Genomes,TOPMed
rs1236749778	p.Lys653Arg	missense variant	-	NC_000005.10:g.150542959A>G	TOPMed
rs1329246951	p.Asp656Val	missense variant	-	NC_000005.10:g.150542968A>T	TOPMed
rs150320391	p.Asp656Asn	missense variant	-	NC_000005.10:g.150542967G>A	ESP,ExAC,TOPMed,gnomAD
rs1163965836	p.Met659Val	missense variant	-	NC_000005.10:g.150545316A>G	TOPMed
rs777660504	p.Phe662Leu	missense variant	-	NC_000005.10:g.150545325T>C	ExAC,gnomAD
rs1415628278	p.Thr668Ile	missense variant	-	NC_000005.10:g.150545344C>T	TOPMed
rs1011218498	p.Asp671Asn	missense variant	-	NC_000005.10:g.150545352G>A	TOPMed
rs1011218498	p.Asp671Tyr	missense variant	-	NC_000005.10:g.150545352G>T	TOPMed
rs1011218498	p.Asp671Asn	missense variant	-	NC_000005.10:g.150545352G>A	NCI-TCGA Cosmic
rs1011218498	p.Asp671Tyr	missense variant	-	NC_000005.10:g.150545352G>T	NCI-TCGA
COSM1169039	p.Asp671Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150545353A>G	NCI-TCGA Cosmic
rs938282382	p.Phe672Leu	missense variant	-	NC_000005.10:g.150545357C>A	TOPMed,gnomAD
COSM3827418	p.Phe672Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150545357C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu675Gly	missense variant	-	NC_000005.10:g.150545365A>G	NCI-TCGA
rs1056722061	p.Lys676Asn	missense variant	-	NC_000005.10:g.150545369A>C	TOPMed
NCI-TCGA novel	p.Lys676Thr	missense variant	-	NC_000005.10:g.150545368A>C	NCI-TCGA
rs139041226	p.Ser677Arg	missense variant	-	NC_000005.10:g.150545372C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771791389	p.Ala678Thr	missense variant	-	NC_000005.10:g.150545373G>A	ExAC,TOPMed,gnomAD
rs1466696341	p.Ala678Val	missense variant	-	NC_000005.10:g.150545374C>T	gnomAD
rs775049078	p.Ser683Leu	missense variant	-	NC_000005.10:g.150545389C>T	ExAC,gnomAD
rs760214707	p.Val685Met	missense variant	-	NC_000005.10:g.150545394G>A	ExAC,gnomAD
rs544980003	p.Ala686Val	missense variant	-	NC_000005.10:g.150545398C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs940152063	p.Pro687Leu	missense variant	-	NC_000005.10:g.150545401C>T	TOPMed
rs762416903	p.Arg688Trp	missense variant	-	NC_000005.10:g.150545403C>T	ExAC,TOPMed,gnomAD
rs564074121	p.Arg688Gln	missense variant	-	NC_000005.10:g.150545404G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs531473286	p.Arg689Gln	missense variant	-	NC_000005.10:g.150545407G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg689Leu	missense variant	-	NC_000005.10:g.150545407G>T	NCI-TCGA
rs1282055557	p.Ala692Gly	missense variant	-	NC_000005.10:g.150545416C>G	gnomAD
rs1264528397	p.Lys696Glu	missense variant	-	NC_000005.10:g.150545427A>G	TOPMed,gnomAD
rs766591981	p.Ala697Val	missense variant	-	NC_000005.10:g.150545431C>T	ExAC,TOPMed,gnomAD
rs141935011	p.Thr701Ser	missense variant	-	NC_000005.10:g.150545443C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261074199	p.Leu703Phe	missense variant	-	NC_000005.10:g.150545448C>T	TOPMed,gnomAD
rs1378305819	p.Pro706Ser	missense variant	-	NC_000005.10:g.150545457C>T	TOPMed
rs138889348	p.Ala707Glu	missense variant	-	NC_000005.10:g.150545461C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs962700674	p.Ala707Thr	missense variant	-	NC_000005.10:g.150545460G>A	TOPMed,gnomAD
rs138889348	p.Ala707Val	missense variant	-	NC_000005.10:g.150545461C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757210245	p.Asp708Asn	missense variant	-	NC_000005.10:g.150545463G>A	ExAC
rs1007466823	p.Arg709Trp	missense variant	-	NC_000005.10:g.150545466C>T	TOPMed
rs606231456	p.Arg709Gln	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150545467G>A	UniProt,dbSNP
VAR_072649	p.Arg709Gln	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150545467G>A	UniProt
rs606231456	p.Arg709Gln	missense variant	-	NC_000005.10:g.150545467G>A	-
RCV000148925	p.Arg709Gln	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150545467G>A	ClinVar
rs375276768	p.Ser712Tyr	missense variant	-	NC_000005.10:g.150545476C>A	ESP,ExAC,TOPMed
rs754702511	p.His716Gln	missense variant	-	NC_000005.10:g.150548220C>A	ExAC,gnomAD
rs780806591	p.Arg718Pro	missense variant	-	NC_000005.10:g.150548225G>C	ExAC,TOPMed,gnomAD
rs1302728109	p.Arg718Ter	stop gained	-	NC_000005.10:g.150548224C>T	TOPMed
rs780806591	p.Arg718Gln	missense variant	-	NC_000005.10:g.150548225G>A	ExAC,TOPMed,gnomAD
rs747627702	p.Ala719Val	missense variant	-	NC_000005.10:g.150548228C>T	ExAC,gnomAD
rs1434554140	p.Ala719Ser	missense variant	-	NC_000005.10:g.150548227G>T	gnomAD
NCI-TCGA novel	p.Asp722Asn	missense variant	-	NC_000005.10:g.150548236G>A	NCI-TCGA
rs1394016276	p.Ala725Thr	missense variant	-	NC_000005.10:g.150548245G>A	gnomAD
rs773752448	p.Leu726Gln	missense variant	-	NC_000005.10:g.150548249T>A	ExAC,gnomAD
rs749826756	p.His731Arg	missense variant	-	NC_000005.10:g.150548264A>G	ExAC,gnomAD
NCI-TCGA novel	p.His731Tyr	missense variant	-	NC_000005.10:g.150548263C>T	NCI-TCGA
rs1471025368	p.Glu732Gly	missense variant	-	NC_000005.10:g.150548267A>G	gnomAD
rs771259891	p.Val733Leu	missense variant	-	NC_000005.10:g.150548269G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr735Asn	missense variant	-	NC_000005.10:g.150548276C>A	NCI-TCGA
NCI-TCGA novel	p.Thr735Ala	missense variant	-	NC_000005.10:g.150548275A>G	NCI-TCGA
rs767696902	p.Ala736Ser	missense variant	-	NC_000005.10:g.150548278G>T	ExAC,TOPMed,gnomAD
rs767696902	p.Ala736Thr	missense variant	-	NC_000005.10:g.150548278G>A	ExAC,TOPMed,gnomAD
rs371359917	p.Gly737Ser	missense variant	-	NC_000005.10:g.150548281G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly737Arg	missense variant	-	NC_000005.10:g.150548281G>C	NCI-TCGA
COSM3661612	p.Gly737Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150548282G>T	NCI-TCGA Cosmic
rs143628072	p.Ala740Thr	missense variant	-	NC_000005.10:g.150548290G>A	ESP,ExAC,TOPMed,gnomAD
rs977524041	p.Ser742Leu	missense variant	-	NC_000005.10:g.150548297C>T	TOPMed,gnomAD
rs751428346	p.Leu744Pro	missense variant	-	NC_000005.10:g.150548303T>C	ExAC,gnomAD
rs758149838	p.Arg745His	missense variant	-	NC_000005.10:g.150548306G>A	ExAC,gnomAD
rs754857873	p.Arg745Cys	missense variant	-	NC_000005.10:g.150548305C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg745Pro	missense variant	-	NC_000005.10:g.150548306G>C	NCI-TCGA
NCI-TCGA novel	p.Ala746Pro	missense variant	-	NC_000005.10:g.150548308G>C	NCI-TCGA
rs755645030	p.Leu747Phe	missense variant	-	NC_000005.10:g.150548311C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu747Ile	missense variant	-	NC_000005.10:g.150548311C>A	NCI-TCGA
rs141752622	p.Arg750His	missense variant	-	NC_000005.10:g.150548321G>A	ESP,ExAC,TOPMed,gnomAD
rs749744290	p.Arg750Cys	missense variant	-	NC_000005.10:g.150548320C>T	ExAC,TOPMed,gnomAD
rs1189945452	p.Gly755Ser	missense variant	-	NC_000005.10:g.150548335G>A	gnomAD
rs1415645880	p.Gly755Asp	missense variant	-	NC_000005.10:g.150548336G>A	gnomAD
rs1230171926	p.Trp756Leu	missense variant	-	NC_000005.10:g.150548339G>T	TOPMed
rs566952354	p.Ala758Thr	missense variant	-	NC_000005.10:g.150548344G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1421034335	p.Thr759Ile	missense variant	-	NC_000005.10:g.150548348C>T	gnomAD
rs772484379	p.Ile761Val	missense variant	-	NC_000005.10:g.150548353A>G	ExAC,gnomAD
rs775686138	p.Glu762Lys	missense variant	-	NC_000005.10:g.150548356G>A	ExAC,TOPMed,gnomAD
rs1275710599	p.Arg763Cys	missense variant	-	NC_000005.10:g.150548359C>T	TOPMed
rs140088577	p.Arg763His	missense variant	-	NC_000005.10:g.150548360G>A	ESP,TOPMed,gnomAD
rs140325494	p.Ser766Gly	missense variant	-	NC_000005.10:g.150548368A>G	1000Genomes
rs1228238360	p.Tyr768Cys	missense variant	-	NC_000005.10:g.150548375A>G	gnomAD
rs768728267	p.His769Gln	missense variant	-	NC_000005.10:g.150548379C>A	ExAC,TOPMed,gnomAD
rs1214164781	p.Ala770Gly	missense variant	-	NC_000005.10:g.150548381C>G	gnomAD
rs776599855	p.Ala770Thr	missense variant	-	NC_000005.10:g.150548380G>A	ExAC,TOPMed,gnomAD
rs1405734782	p.Asn771Ser	missense variant	-	NC_000005.10:g.150548384A>G	TOPMed
COSM4928900	p.Asn771Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150548385C>A	NCI-TCGA Cosmic
rs1187449813	p.Asp777Val	missense variant	-	NC_000005.10:g.150549691A>T	gnomAD
rs1253233436	p.Gly778Ser	missense variant	-	NC_000005.10:g.150549693G>A	TOPMed,gnomAD
rs768794426	p.Lys779Arg	missense variant	-	NC_000005.10:g.150549697A>G	ExAC,TOPMed,gnomAD
rs776949087	p.Leu780Val	missense variant	-	NC_000005.10:g.150549699C>G	ExAC,gnomAD
rs747907538	p.Arg782Leu	missense variant	-	NC_000005.10:g.150549706G>T	ExAC,TOPMed,gnomAD
rs992170274	p.Arg782Cys	missense variant	-	NC_000005.10:g.150549705C>T	TOPMed,gnomAD
rs1160775771	p.Thr783Arg	missense variant	-	NC_000005.10:g.150549709C>G	gnomAD
rs770052718	p.Thr783Ala	missense variant	-	NC_000005.10:g.150549708A>G	ExAC,TOPMed,gnomAD
rs1383511933	p.Lys787Gln	missense variant	-	NC_000005.10:g.150549720A>C	gnomAD
rs774422073	p.Val788Gly	missense variant	-	NC_000005.10:g.150549724T>G	ExAC,gnomAD
rs1373307979	p.Met791Ile	missense variant	-	NC_000005.10:g.150549734G>A	gnomAD
rs1373307979	p.Met791Ile	missense variant	-	NC_000005.10:g.150549734G>C	gnomAD
rs771780923	p.Met791Val	missense variant	-	NC_000005.10:g.150549732A>G	ExAC,TOPMed,gnomAD
rs201854922	p.Val798Ala	missense variant	-	NC_000005.10:g.150549754T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val798Leu	missense variant	-	NC_000005.10:g.150549753G>T	NCI-TCGA
rs987497760	p.Thr799Ala	missense variant	-	NC_000005.10:g.150549756A>G	gnomAD
rs1204747968	p.Asn800His	missense variant	-	NC_000005.10:g.150549759A>C	TOPMed
RCV000660550	p.Thr801Ser	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150549762A>T	ClinVar
rs760333260	p.Thr801Ser	missense variant	-	NC_000005.10:g.150549762A>T	ExAC,TOPMed,gnomAD
rs760333260	p.Thr801Pro	missense variant	-	NC_000005.10:g.150549762A>C	ExAC,TOPMed,gnomAD
rs146304238	p.Ile802Asn	missense variant	-	NC_000005.10:g.150549766T>A	ESP,ExAC,TOPMed,gnomAD
rs146304238	p.Ile802Thr	missense variant	-	NC_000005.10:g.150549766T>C	ESP,ExAC,TOPMed,gnomAD
rs1370569502	p.Asp803Tyr	missense variant	-	NC_000005.10:g.150549768G>T	gnomAD
rs753586471	p.His805Asn	missense variant	-	NC_000005.10:g.150549774C>A	ExAC,gnomAD
rs753586471	p.His805Tyr	missense variant	-	NC_000005.10:g.150549774C>T	ExAC,gnomAD
rs756756360	p.Thr807Asn	missense variant	-	NC_000005.10:g.150549781C>A	ExAC,gnomAD
rs201660056	p.Ala809Glu	missense variant	-	NC_000005.10:g.150549787C>A	ExAC,TOPMed,gnomAD
rs201660056	p.Ala809Val	missense variant	-	NC_000005.10:g.150549787C>T	ExAC,TOPMed,gnomAD
rs555617163	p.Pro812Ser	missense variant	-	NC_000005.10:g.150551760C>T	1000Genomes
rs1420708998	p.Lys813Arg	missense variant	-	NC_000005.10:g.150551764A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly815Ter	stop gained	-	NC_000005.10:g.150551769G>T	NCI-TCGA
rs573765554	p.Phe816Cys	missense variant	-	NC_000005.10:g.150551773T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Phe816Leu	missense variant	-	NC_000005.10:g.150551772T>C	NCI-TCGA
rs1457946383	p.Trp817Ter	stop gained	-	NC_000005.10:g.150551777G>A	gnomAD
rs764682491	p.Gln819His	missense variant	-	NC_000005.10:g.150551783A>C	ExAC,TOPMed
rs749969324	p.Leu820Val	missense variant	-	NC_000005.10:g.150551784C>G	ExAC,gnomAD
rs1398110364	p.Leu829Pro	missense variant	-	NC_000005.10:g.150551812T>C	TOPMed
rs1172526096	p.Ser832Asn	missense variant	-	NC_000005.10:g.150551821G>A	TOPMed
rs370921233	p.Arg835Gln	missense variant	-	NC_000005.10:g.150551830G>A	ESP,ExAC,gnomAD
rs766771345	p.Arg835Trp	missense variant	-	NC_000005.10:g.150551829C>T	ExAC,TOPMed,gnomAD
rs755289713	p.Lys836Glu	missense variant	-	NC_000005.10:g.150551832A>G	ExAC,gnomAD
rs1177184617	p.Pro838Ser	missense variant	-	NC_000005.10:g.150551838C>T	gnomAD
rs756426391	p.Glu839Asp	missense variant	-	NC_000005.10:g.150551843G>C	ExAC,gnomAD
rs150060318	p.Glu839Lys	missense variant	-	NC_000005.10:g.150551841G>A	ESP,ExAC,TOPMed,gnomAD
rs777958202	p.Asp841Asn	missense variant	-	NC_000005.10:g.150551847G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser844Pro	missense variant	-	NC_000005.10:g.150553213T>C	NCI-TCGA
rs374008656	p.Arg845Gln	missense variant	-	NC_000005.10:g.150553217G>A	ESP,ExAC,TOPMed,gnomAD
rs1007474057	p.Phe847Leu	missense variant	-	NC_000005.10:g.150553224C>G	TOPMed,gnomAD
rs772694573	p.AspTyrTyr850AspTyrTerThrIleUnk	stop gained	-	NC_000005.10:g.150553231_150553238dup	ExAC,gnomAD
rs779064315	p.Tyr851Cys	missense variant	-	NC_000005.10:g.150553235A>G	ExAC,gnomAD
rs371747881	p.Arg853Gln	missense variant	-	NC_000005.10:g.150553241G>A	ESP,ExAC,TOPMed,gnomAD
rs768673584	p.Arg853Trp	missense variant	-	NC_000005.10:g.150553240C>T	ExAC,gnomAD
RCV000500065	p.Arg853Gln	missense variant	-	NC_000005.10:g.150553241G>A	ClinVar
rs747918725	p.His855Pro	missense variant	-	NC_000005.10:g.150553247A>C	ExAC,gnomAD
rs747918725	p.His855Arg	missense variant	-	NC_000005.10:g.150553247A>G	ExAC,gnomAD
rs965472851	p.Asn856Ser	missense variant	-	NC_000005.10:g.150553250A>G	TOPMed,gnomAD
COSM6169978	p.Asn856Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150553250A>T	NCI-TCGA Cosmic
rs773934403	p.Glu858Lys	missense variant	-	NC_000005.10:g.150553255G>A	ExAC,gnomAD
rs768035535	p.Ser860Cys	missense variant	-	NC_000005.10:g.150553262C>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr864Ter	stop gained	-	NC_000005.10:g.150553275T>G	NCI-TCGA
rs764558998	p.Thr869Ile	missense variant	-	NC_000005.10:g.150553289C>T	ExAC,gnomAD
COSM482354	p.Leu870Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150553292T>C	NCI-TCGA Cosmic
rs757107830	p.Pro871Arg	missense variant	-	NC_000005.10:g.150553295C>G	ExAC,gnomAD
rs757107830	p.Pro871Leu	missense variant	-	NC_000005.10:g.150553295C>T	ExAC,gnomAD
COSM3827420	p.Pro871Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150553294C>T	NCI-TCGA Cosmic
rs757522372	p.Thr872Ile	missense variant	-	NC_000005.10:g.150553298C>T	ExAC,gnomAD
rs372636224	p.Arg875Gln	missense variant	-	NC_000005.10:g.150553307G>A	ESP,ExAC,TOPMed,gnomAD
rs750489076	p.Arg875Ter	stop gained	-	NC_000005.10:g.150553306C>T	ExAC,TOPMed,gnomAD
rs372636224	p.Arg875Leu	missense variant	-	NC_000005.10:g.150553307G>T	ESP,ExAC,TOPMed,gnomAD
rs755838397	p.Gln879Leu	missense variant	-	NC_000005.10:g.150553319A>T	ExAC
rs1235207739	p.Asn880Ile	missense variant	-	NC_000005.10:g.150553322A>T	TOPMed
rs1420741697	p.Asn880Tyr	missense variant	-	NC_000005.10:g.150553321A>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001807	Aggressive behavior	phenotype	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0012236	DiGeorge Syndrome	disease	MGD
C0015393	Eye Abnormalities	group	CTD_human
C0019284	Diaphragmatic Hernia	phenotype	MGD
C0020192	Hyaline Membrane Disease	disease	MGD
C0020796	Profound Mental Retardation	disease	CTD_human
C0022658	Kidney Diseases	group	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0027051	Myocardial Infarction	disease	GWASDB
C0027720	Nephrosis	disease	LHGDN
C0035220	Respiratory Distress Syndrome, Newborn	disease	BEFREE
C0037317	Sleep disturbances	group	HPO
C0085631	Agitation	phenotype	HPO
C0151686	Growth retardation	phenotype	HPO
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0265783	Congenital hypoplasia of lung	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0423903	Low intelligence	phenotype	HPO
C0424323	Physical aggression	phenotype	HPO
C0431380	Cortical Dysplasia	disease	CTD_human
C0456070	Growth delay	phenotype	HPO
C0476273	Respiratory distress	phenotype	BEFREE
C0557874	Global developmental delay	disease	HPO
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0852283	Respiratory Distress Syndrome	disease	BEFREE
C0878787	Growth failure	phenotype	HPO
C0917816	Mental deficiency	disease	CTD_human;HPO
C1457883	Aggressive reaction	phenotype	HPO
C1527347	Difficulty speaking	phenotype	HPO
C1837385	Poor growth	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1848207	Poor speech	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1955869	Malformations of Cortical Development	group	CTD_human
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3552463	Very poor growth	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO
C4015283	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46	disease	CLINVAR;CTD_human;UNIPROT
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4280574	Problems speaking	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0015016	[heparan sulfate]-glucosamine N-sulfotransferase activity	IBA
GO:0015016	[heparan sulfate]-glucosamine N-sulfotransferase activity	IDA
GO:0019213	deacetylase activity	IBA
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity	IBA
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003279	cardiac septum development	IEA
GO:0006024	glycosaminoglycan biosynthetic process	TAS
GO:0006477	protein sulfation	IEA
GO:0006954	inflammatory response	IEA
GO:0007585	respiratory gaseous exchange by respiratory system	IEA
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IBA
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA
GO:0030210	heparin biosynthetic process	IEA
GO:0030900	forebrain development	IEA
GO:0030901	midbrain development	IEA
GO:0035904	aorta development	IEA
GO:0043410	positive regulation of MAPK cascade	IEA
GO:0045880	positive regulation of smoothened signaling pathway	IEA
GO:0048702	embryonic neurocranium morphogenesis	IEA
GO:0048703	embryonic viscerocranium morphogenesis	IEA
GO:0060976	coronary vasculature development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	TAS
GO:0005794	Golgi apparatus	IBA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1630316	Glycosaminoglycan metabolism	TAS
R-HSA-1638091	Heparan sulfate/heparin (HS-GAG) metabolism	TAS
R-HSA-2022928	HS-GAG biosynthesis	TAS
R-HSA-71387	Metabolism of carbohydrates	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of NDST1 mRNA	19114083
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of NDST1 mRNA	20406850
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of NDST1 mRNA	21346803
C585004	2-monochloropropanediol	2-monochloropropanediol results in decreased expression of NDST1 mRNA	28522335
C473484	4-(2-bromo-6-pyrrolidin-1-ylpyridine-4-sulfonyl)phenylamine	4-(2-bromo-6-pyrrolidin-1-ylpyridine-4-sulfonyl)phenylamine affects the expression of NDST1 mRNA	14610520
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of NDST1 mRNA	18648102
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of NDST1 mRNA	27567155
D000082	Acetaminophen	Acetaminophen results in decreased expression of NDST1 mRNA	21420995
D000082	Acetaminophen	Acetaminophen results in increased expression of NDST1 mRNA	26690555
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NDST1 gene	27153756
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in decreased expression of NDST1 mRNA	28522335
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of NDST1 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of NDST1 mRNA	20458559
D001564	Benzo(a)pyrene	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of NDST1 mRNA]	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NDST1 mRNA	21569818
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of NDST1 mRNA	22228805
C006780	bisphenol A	bisphenol A results in decreased expression of NDST1 mRNA	25181051
D003994	Bucladesine	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of NDST1 mRNA	20823114
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of NDST1 mRNA	31150632
D002737	Chloroprene	Chloroprene results in decreased expression of NDST1 mRNA	23125180
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of NDST1 mRNA	20350560
D016572	Cyclosporine	Cyclosporine results in decreased expression of NDST1 mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in decreased methylation of NDST1 promoter	27989131
C093628	cyproconazole	cyproconazole results in decreased expression of NDST1 mRNA	22334560
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of NDST1 mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of NDST1 mRNA	28302478
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of NDST1 mRNA	30102407
D004656	Enalapril	Enalapril inhibits the reaction [Streptozocin results in decreased expression of NDST1 protein]	15793251
D004726	Endosulfan	Endosulfan results in decreased expression of NDST1 mRNA	29391264
C109476	epoxiconazole	epoxiconazole results in decreased expression of NDST1 mRNA	22334560
D004958	Estradiol	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of NDST1 mRNA	20823114
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of NDST1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of NDST1 mRNA	23019147
D000431	Ethanol	Ethanol results in increased expression of NDST1 mRNA	30319688
D005419	Flavonoids	Flavonoids results in increased expression of NDST1 mRNA	18035473
D005492	Folic Acid	Folic Acid affects the expression of NDST1 mRNA	17320366
D006497	Heparitin Sulfate	Heparitin Sulfate affects the susceptibility to [NDST1 protein co-treated with NDST2 protein]	19937756
D006497	Heparitin Sulfate	Heparitin Sulfate inhibits the reaction [[NDST1 protein co-treated with NDST2 protein] affects the phosphorylation of MAPK1 protein]	19937756
D006497	Heparitin Sulfate	Heparitin Sulfate inhibits the reaction [[NDST1 protein co-treated with NDST2 protein] affects the phosphorylation of MAPK3 protein]	19937756
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of NDST1 mRNA	25613284
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of NDST1 mRNA	26752646
D019808	Losartan	Losartan inhibits the reaction [Streptozocin results in decreased expression of NDST1 protein]	15793251
D017258	Medroxyprogesterone Acetate	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in increased expression of NDST1 mRNA	20823114
D008748	Methylcholanthrene	Methylcholanthrene promotes the reaction [AHR protein binds to NDST1 promoter]	20348232
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of NDST1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of NDST1 mRNA	23649840
D008777	Methyltestosterone	Methyltestosterone results in increased expression of NDST1 mRNA	29191790
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of NDST1 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of NDST1 mRNA	25554681
C007350	nitrofen	nitrofen results in decreased expression of NDST1 mRNA	28363469
C007350	nitrofen	nitrofen results in decreased expression of NDST1 protein	28363469
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of NDST1 mRNA	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased methylation of NDST1 promoter	26251327
C014129	N-nitrosodiethanolamine	N-nitrosodiethanolamine results in increased expression of NDST1 mRNA	30102407
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of NDST1 mRNA	30529165
D010269	Paraquat	Paraquat results in increased expression of NDST1 mRNA	21371552
C006253	pirinixic acid	pirinixic acid results in decreased expression of NDST1 mRNA	17426115; 17950772; 18445702; 23811191;
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in decreased expression of NDST1 mRNA]	17950772
C045950	propiconazole	propiconazole results in decreased expression of NDST1 mRNA	21278054; 22334560; 23970803;
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside affects the expression of NDST1 mRNA	14966466
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside results in decreased expression of NDST1 mRNA	14966466
C488333	Ro 65-7199	Ro 65-7199 affects the expression of NDST1 mRNA	14610520
D012402	Rotenone	Rotenone results in decreased expression of NDST1 mRNA	28374803
D013311	Streptozocin	Enalapril inhibits the reaction [Streptozocin results in decreased expression of NDST1 protein]	15793251
D013311	Streptozocin	Losartan inhibits the reaction [Streptozocin results in decreased expression of NDST1 protein]	15793251
D013311	Streptozocin	Streptozocin results in decreased expression of NDST1 mRNA	15793251
D013311	Streptozocin	Streptozocin results in decreased expression of NDST1 protein	15793251
D000077210	Sunitinib	Sunitinib results in decreased expression of NDST1 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NDST1 mRNA	22574217
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NDST1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of NDST1 mRNA	25975270
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of NDST1 mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in decreased expression of NDST1 mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in decreased expression of NDST1 mRNA	23557971; 27760801;
D014212	Tretinoin	Tretinoin results in decreased expression of NDST1 mRNA	24977338
C012589	trichostatin A	trichostatin A affects the expression of NDST1 mRNA	28542535
D000077288	Troglitazone	Troglitazone results in decreased expression of NDST1 mRNA	28973697
D014635	Valproic Acid	Valproic Acid results in decreased expression of NDST1 mRNA	23179753; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of NDST1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the splicing of NDST1 mRNA	29427782
C025643	vinclozolin	vinclozolin results in decreased expression of NDST1 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0333	Golgi apparatus
KW-0378	Hydrolase
KW-0395	Inflammatory response
KW-0472	Membrane
KW-0991	Mental retardation
KW-0511	Multifunctional enzyme
KW-1185	Reference proteome
KW-0735	Signal-anchor
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR021930	Heparan_SO4_deacetylase
IPR037359	NST/OST
IPR027417	P-loop_NTPase
IPR000863	Sulfotransferase_dom

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF12062	HSNSD
PF00685	Sulfotransfer_1

Gene: NDST1

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

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