CleftGeneDB-Search

Gene: KYNU

Basic information

Tag	Content
Uniprot ID	Q16719; B2RCZ5; D3DP79; Q6I9T2; Q9BVW3;
Entrez ID	8942
Genbank protein ID	EAX11600.1; EAX11601.1; EAX11599.1; AAC50650.1; CAG33704.1; BAG37742.1; AAH00879.1;
Genbank nucleotide ID	NM_003937.2; NM_001199241.1; XM_017005217.1; NM_001032998.1;
Ensembl protein ID	ENSP00000264170; ENSP00000364928; ENSP00000386731;
Ensembl nucleotide ID	ENSG00000115919
Gene name	Kynureninase
Gene symbol	KYNU
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Catalyzes the cleavage of L-kynurenine (L-Kyn) and L-3-hydroxykynurenine (L-3OHKyn) into anthranilic acid (AA) and 3-hydroxyanthranilic acid (3-OHAA), respectively. Has a preference for the L-3-hydroxy form. Also has cysteine-conjugate-beta-lyase activity.
Sequence	MEPSSLELPA DTVQRIAAEL KCHPTDERVA LHLDEEDKLR HFRECFYIPK IQDLPPVDLS 60 LVNKDENAIY FLGNSLGLQP KMVKTYLEEE LDKWAKIAAY GHEVGKRPWI TGDESIVGLM 120 KDIVGANEKE IALMNALTVN LHLLMLSFFK PTPKRYKILL EAKAFPSDHY AIESQLQLHG 180 LNIEESMRMI KPREGEETLR IEDILEVIEK EGDSIAVILF SGVHFYTGQH FNIPAITKAG 240 QAKGCYVGFD LAHAVGNVEL YLHDWGVDFA CWCSYKYLNA GAGGIAGAFI HEKHAHTIKP 300 ALVGWFGHEL STRFKMDNKL QLIPGVCGFR ISNPPILLVC SLHASLEIFK QATMKALRKK 360 SVLLTGYLEY LIKHNYGKDK AATKKPVVNI ITPSHVEERG CQLTITFSVP NKDVFQELEK 420 RGVVCDKRNP NGIRVAPVPL YNSFHDVYKF TNLLTSILDS AETKN 465

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
2HZP
3E9K

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	KYNU	520327	F1MCH2		Bos taurus	Prediction	More>>
1:1 ortholog	KYNU	102191655	A0A452G451		Capra hircus	Prediction	More>>
1:1 ortholog	KYNU	8942	Q16719		Homo sapiens	Prediction	More>>
1:1 ortholog	Kynu	70789	Q9CXF0	CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	KYNU	459641	H2QIS6		Pan troglodytes	Prediction	More>>
1:1 ortholog	KYNU		A0A286ZLN5		Sus scrofa	Prediction	More>>
1:1 ortholog	KYNU	100352837	G1SQI7		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Kynu	116682	P70712		Rattus norvegicus	Prediction	More>>
1:1 ortholog	kynu	100334830	A0A0R4IQY2		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1278323246	p.Glu2Gly	missense variant	-	NC_000002.12:g.142885372A>G	TOPMed
rs1225791141	p.Glu2Lys	missense variant	-	NC_000002.12:g.142885371G>A	gnomAD
rs1267770545	p.Pro3His	missense variant	-	NC_000002.12:g.142885375C>A	gnomAD
rs757769470	p.Ser4Ter	stop gained	-	NC_000002.12:g.142885378C>A	ExAC,gnomAD
rs1213214051	p.Leu6Pro	missense variant	-	NC_000002.12:g.142885384T>C	gnomAD
COSM282332	p.Leu6Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885383C>A	NCI-TCGA Cosmic
rs1251337220	p.Glu7Ter	stop gained	-	NC_000002.12:g.142885386G>T	gnomAD
NCI-TCGA novel	p.Glu7Gln	missense variant	-	NC_000002.12:g.142885386G>C	NCI-TCGA
rs765348171	p.Leu8Pro	missense variant	-	NC_000002.12:g.142885390T>C	ExAC,gnomAD
rs376052980	p.Pro9Leu	missense variant	-	NC_000002.12:g.142885393C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750469909	p.Pro9Ser	missense variant	-	NC_000002.12:g.142885392C>T	ExAC,TOPMed,gnomAD
rs747191524	p.Asp11Asn	missense variant	-	NC_000002.12:g.142885398G>A	ExAC,gnomAD
rs1369056083	p.Thr12Ala	missense variant	-	NC_000002.12:g.142885401A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Thr12Arg	missense variant	-	NC_000002.12:g.142885402C>G	NCI-TCGA
rs1460438773	p.Val13Ala	missense variant	-	NC_000002.12:g.142885405T>C	gnomAD
rs1305968991	p.Gln14Ter	stop gained	-	NC_000002.12:g.142885407C>T	TOPMed
COSM716531	p.Gln14Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885407C>A	NCI-TCGA Cosmic
rs200861229	p.Arg15Leu	missense variant	-	NC_000002.12:g.142885411G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1031922730	p.Arg15Cys	missense variant	-	NC_000002.12:g.142885410C>T	TOPMed
rs200861229	p.Arg15His	missense variant	-	NC_000002.12:g.142885411G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200861229	p.Arg15His	missense variant	-	NC_000002.12:g.142885411G>A	NCI-TCGA
COSM5183365	p.Ile16Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885413A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile16Leu	missense variant	-	NC_000002.12:g.142885413A>C	NCI-TCGA
rs770963937	p.Ala17Val	missense variant	-	NC_000002.12:g.142885417C>T	ExAC,gnomAD
rs770963937	p.Ala17Glu	missense variant	-	NC_000002.12:g.142885417C>A	ExAC,gnomAD
rs745395140	p.Leu20Phe	missense variant	-	NC_000002.12:g.142885425C>T	ExAC,TOPMed,gnomAD
rs1160123157	p.Lys21Glu	missense variant	-	NC_000002.12:g.142885428A>G	TOPMed
rs957303861	p.Lys21Thr	missense variant	-	NC_000002.12:g.142885429A>C	TOPMed
rs760372138	p.Cys22Ser	missense variant	-	NC_000002.12:g.142885432G>C	ExAC,gnomAD
rs775287103	p.Cys22Arg	missense variant	-	NC_000002.12:g.142885431T>C	ExAC,gnomAD
rs141597680	p.Pro24Ser	missense variant	-	NC_000002.12:g.142885437C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1209537470	p.Thr25Ala	missense variant	-	NC_000002.12:g.142885440A>G	gnomAD
rs199895914	p.Thr25Lys	missense variant	-	NC_000002.12:g.142885441C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199895914	p.Thr25Met	missense variant	-	NC_000002.12:g.142885441C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766375772	p.Arg28Thr	missense variant	-	NC_000002.12:g.142885450G>C	ExAC,gnomAD
rs766375772	p.Arg28Lys	missense variant	-	NC_000002.12:g.142885450G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg28Met	missense variant	-	NC_000002.12:g.142885450G>T	NCI-TCGA
rs751792034	p.Val29Met	missense variant	-	NC_000002.12:g.142885452G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala30Ser	missense variant	-	NC_000002.12:g.142885455G>T	NCI-TCGA
rs1185754984	p.Leu31Phe	missense variant	-	NC_000002.12:g.142885458C>T	gnomAD
COSM3894893	p.His32Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885462A>C	NCI-TCGA Cosmic
rs1157898315	p.Asp34His	missense variant	-	NC_000002.12:g.142885467G>C	gnomAD
rs1255953822	p.Asp34Gly	missense variant	-	NC_000002.12:g.142885468A>G	TOPMed
NCI-TCGA novel	p.Glu35Lys	missense variant	-	NC_000002.12:g.142885470G>A	NCI-TCGA
rs753701829	p.Glu36Lys	missense variant	-	NC_000002.12:g.142885473G>A	NCI-TCGA
rs753701829	p.Glu36Lys	missense variant	-	NC_000002.12:g.142885473G>A	ExAC,gnomAD
rs753701829	p.Glu36Ter	stop gained	-	NC_000002.12:g.142885473G>T	ExAC,gnomAD
rs1305007193	p.Lys38Thr	missense variant	-	NC_000002.12:g.142885480A>C	TOPMed,gnomAD
rs779009664	p.Arg40Lys	missense variant	-	NC_000002.12:g.142885486G>A	ExAC,gnomAD
rs146238174	p.His41Tyr	missense variant	-	NC_000002.12:g.142885488C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1203636425	p.His41Leu	missense variant	-	NC_000002.12:g.142885489A>T	TOPMed
rs779601985	p.Phe42Leu	missense variant	-	NC_000002.12:g.142885491T>C	ExAC,TOPMed,gnomAD
rs746689071	p.Arg43Gly	missense variant	-	NC_000002.12:g.142885494A>G	ExAC,TOPMed,gnomAD
rs1256331249	p.Cys45Trp	missense variant	-	NC_000002.12:g.142885502C>G	gnomAD
COSM1007095	p.Cys45Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885500T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys45Tyr	missense variant	-	NC_000002.12:g.142885501G>A	NCI-TCGA
rs776106261	p.Phe46Leu	missense variant	-	NC_000002.12:g.142885503T>C	ExAC,gnomAD
rs762184984	p.Ile48Phe	missense variant	-	NC_000002.12:g.142885509A>T	ExAC,TOPMed,gnomAD
rs370934769	p.Lys50Thr	missense variant	-	NC_000002.12:g.142885516A>C	ESP
rs770083748	p.Lys50Glu	missense variant	-	NC_000002.12:g.142885515A>G	ExAC,TOPMed,gnomAD
rs557224936	p.Gln52Lys	missense variant	-	NC_000002.12:g.142885521C>A	TOPMed
rs375522416	p.Gln52His	missense variant	-	NC_000002.12:g.142885523G>C	ESP,TOPMed,gnomAD
rs773708408	p.Asp53Val	missense variant	-	NC_000002.12:g.142885525A>T	ExAC,gnomAD
rs763444024	p.Asp53Glu	missense variant	-	NC_000002.12:g.142885526T>G	ExAC,gnomAD
rs751630031	p.Pro55Leu	missense variant	-	NC_000002.12:g.142885531C>T	ExAC,TOPMed,gnomAD
rs535280440	p.Pro56Leu	missense variant	-	NC_000002.12:g.142885534C>T	1000Genomes,ExAC,gnomAD
rs535280440	p.Pro56Gln	missense variant	-	NC_000002.12:g.142885534C>A	1000Genomes,ExAC,gnomAD
rs766361158	p.Asp58Tyr	missense variant	-	NC_000002.12:g.142918611G>T	ExAC,gnomAD
rs766361158	p.Asp58Asn	missense variant	-	NC_000002.12:g.142918611G>A	ExAC,gnomAD
rs751390957	p.Asp58Val	missense variant	-	NC_000002.12:g.142918612A>T	ExAC,gnomAD
rs751390957	p.Asp58Gly	missense variant	-	NC_000002.12:g.142918612A>G	ExAC,gnomAD
rs1418071159	p.Leu59Phe	missense variant	-	NC_000002.12:g.142918616A>T	gnomAD
rs1407121968	p.Ser60Leu	missense variant	-	NC_000002.12:g.142918618C>T	gnomAD
rs1393856017	p.Asn63Ser	missense variant	-	NC_000002.12:g.142918627A>G	gnomAD
rs201592797	p.Asn63Lys	missense variant	-	NC_000002.12:g.142918628T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1322808333	p.Lys64Glu	missense variant	-	NC_000002.12:g.142918629A>G	TOPMed,gnomAD
rs780559952	p.Asp65Asn	missense variant	-	NC_000002.12:g.142918632G>A	ExAC,gnomAD
rs910841644	p.Glu66Gly	missense variant	-	NC_000002.12:g.142918636A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu66Gln	missense variant	-	NC_000002.12:g.142918635G>C	NCI-TCGA
rs1381316973	p.Ala68Thr	missense variant	-	NC_000002.12:g.142918641G>A	gnomAD
rs777366701	p.Ile69Val	missense variant	-	NC_000002.12:g.142918644A>G	ExAC,TOPMed,gnomAD
rs777366701	p.Ile69Phe	missense variant	-	NC_000002.12:g.142918644A>T	ExAC,TOPMed,gnomAD
rs1332040911	p.Tyr70Cys	missense variant	-	NC_000002.12:g.142918648A>G	gnomAD
rs749679620	p.Tyr70Ter	stop gained	-	NC_000002.12:g.142918649T>A	ExAC,gnomAD
NCI-TCGA novel	p.Tyr70Asn	missense variant	-	NC_000002.12:g.142918647T>A	NCI-TCGA
NCI-TCGA novel	p.Phe71Leu	missense variant	-	NC_000002.12:g.142918652C>A	NCI-TCGA
COSM3567291	p.Gly73Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142918657G>A	NCI-TCGA Cosmic
rs1447933131	p.Asn74Ser	missense variant	-	NC_000002.12:g.142918660A>G	gnomAD
COSM3425247	p.Ser75Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142918663C>A	NCI-TCGA Cosmic
rs774927973	p.Gln79Pro	missense variant	-	NC_000002.12:g.142918675A>C	ExAC,gnomAD
rs1240840110	p.Pro80Ser	missense variant	-	NC_000002.12:g.142918677C>T	gnomAD
rs746357812	p.Pro80Arg	missense variant	-	NC_000002.12:g.142918678C>G	ExAC,TOPMed,gnomAD
rs1417168611	p.Lys84Arg	missense variant	-	NC_000002.12:g.142918690A>G	gnomAD
rs761016933	p.Leu87Val	missense variant	-	NC_000002.12:g.142918698C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu87Ile	missense variant	-	NC_000002.12:g.142918698C>A	NCI-TCGA
rs1386001668	p.Glu88Gln	missense variant	-	NC_000002.12:g.142918701G>C	gnomAD
rs764440203	p.Glu89Lys	missense variant	-	NC_000002.12:g.142918704G>A	ExAC,TOPMed,gnomAD
rs764440203	p.Glu89Gln	missense variant	-	NC_000002.12:g.142918704G>C	ExAC,TOPMed,gnomAD
COSM1399775	p.Glu90Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142918707G>A	NCI-TCGA Cosmic
rs776944258	p.Glu90Gln	missense variant	-	NC_000002.12:g.142918707G>C	ExAC
rs762818928	p.Asp92His	missense variant	-	NC_000002.12:g.142918713G>C	ExAC,gnomAD
rs1360718806	p.Asp92Gly	missense variant	-	NC_000002.12:g.142918714A>G	TOPMed,gnomAD
rs766018464	p.Lys93Asn	missense variant	-	NC_000002.12:g.142918718G>C	ExAC,TOPMed,gnomAD
rs199881067	p.Ala95Thr	missense variant	-	NC_000002.12:g.142918722G>A	1000Genomes,TOPMed,gnomAD
rs199881067	p.Ala95Ser	missense variant	-	NC_000002.12:g.142918722G>T	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Ile97Thr	missense variant	-	NC_000002.12:g.142918729T>C	NCI-TCGA
rs760185735	p.Ala98Thr	missense variant	-	NC_000002.12:g.142927660G>A	ExAC,gnomAD
rs753547596	p.Tyr100Cys	missense variant	-	NC_000002.12:g.142927667A>G	ExAC,gnomAD
rs1397196048	p.Val104Ala	missense variant	-	NC_000002.12:g.142927679T>C	gnomAD
rs756839567	p.Gly105Ala	missense variant	-	NC_000002.12:g.142927682G>C	ExAC,gnomAD
rs1429420900	p.Lys106Gln	missense variant	-	NC_000002.12:g.142927684A>C	TOPMed
rs545230086	p.Arg107His	missense variant	-	NC_000002.12:g.142927688G>A	1000Genomes,ExAC,gnomAD
rs373416306	p.Arg107Cys	missense variant	-	NC_000002.12:g.142927687C>T	ESP,ExAC,TOPMed,gnomAD
rs1186246256	p.Pro108Ser	missense variant	-	NC_000002.12:g.142927690C>T	TOPMed,gnomAD
rs1043905236	p.Pro108Leu	missense variant	-	NC_000002.12:g.142927691C>T	TOPMed
NCI-TCGA novel	p.Pro108His	missense variant	-	NC_000002.12:g.142927691C>A	NCI-TCGA
rs780720490	p.Trp109Ser	missense variant	-	NC_000002.12:g.142927694G>C	ExAC,gnomAD
COSM3567293	p.Trp109Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.142927694G>A	NCI-TCGA Cosmic
COSM6154313	p.Trp109Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142927695G>T	NCI-TCGA Cosmic
COSM1007097	p.Ile110Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142927697T>A	NCI-TCGA Cosmic
rs375973950	p.Gly112Arg	missense variant	-	NC_000002.12:g.142927702G>A	ESP,ExAC,TOPMed,gnomAD
rs768919861	p.Asp113Asn	missense variant	-	NC_000002.12:g.142927705G>A	ExAC,gnomAD
rs142820434	p.Ser115Asn	missense variant	-	NC_000002.12:g.142927712G>A	ESP,ExAC,TOPMed,gnomAD
rs369102028	p.Ile116Thr	missense variant	-	NC_000002.12:g.142927715T>C	ESP,ExAC,TOPMed,gnomAD
rs1265023242	p.Val117Ile	missense variant	-	NC_000002.12:g.142927717G>A	TOPMed
COSM716527	p.Met120Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142927726A>T	NCI-TCGA Cosmic
rs531153291	p.Met120Thr	missense variant	-	NC_000002.12:g.142927727T>C	1000Genomes
NCI-TCGA novel	p.Lys121Asn	missense variant	-	NC_000002.12:g.142927731G>T	NCI-TCGA
NCI-TCGA novel	p.Asp122Glu	missense variant	-	NC_000002.12:g.142927734C>A	NCI-TCGA
rs775475961	p.Ile123Thr	missense variant	-	NC_000002.12:g.142927736T>C	ExAC,TOPMed,gnomAD
rs755351641	p.Ala126Thr	missense variant	-	NC_000002.12:g.142954812G>A	ExAC,gnomAD
rs767925699	p.Ala126Val	missense variant	-	NC_000002.12:g.142954813C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala126Gly	missense variant	-	NC_000002.12:g.142954813C>G	NCI-TCGA
rs1038247589	p.Asn127Ser	missense variant	-	NC_000002.12:g.142954816A>G	TOPMed
COSM1007099	p.Glu128Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142954820G>T	NCI-TCGA Cosmic
rs756218666	p.Glu128Ala	missense variant	-	NC_000002.12:g.142954819A>C	ExAC,gnomAD
rs868328176	p.Glu130Ter	stop gained	-	NC_000002.12:g.142954824G>T	gnomAD
rs1161471911	p.Glu130Ala	missense variant	-	NC_000002.12:g.142954825A>C	TOPMed
rs868328176	p.Glu130Lys	missense variant	-	NC_000002.12:g.142954824G>A	gnomAD
rs777899443	p.Ile131Val	missense variant	-	NC_000002.12:g.142954827A>G	ExAC,gnomAD
rs749561053	p.Ala132Ser	missense variant	-	NC_000002.12:g.142954830G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu133Ile	missense variant	-	NC_000002.12:g.142954833C>A	NCI-TCGA
NCI-TCGA novel	p.Met134Ile	missense variant	-	NC_000002.12:g.142954838G>T	NCI-TCGA
rs377046390	p.Thr138Ser	missense variant	-	NC_000002.12:g.142954849C>G	ESP,ExAC,gnomAD
rs377046390	p.Thr138Ile	missense variant	-	NC_000002.12:g.142954849C>T	ESP,ExAC,gnomAD
rs1176253447	p.Val139Ile	missense variant	-	NC_000002.12:g.142954851G>A	gnomAD
rs1248062805	p.Leu141Ile	missense variant	-	NC_000002.12:g.142954857T>A	gnomAD
rs776435144	p.His142Arg	missense variant	-	NC_000002.12:g.142954861A>G	ExAC,gnomAD
NCI-TCGA novel	p.His142Gln	missense variant	-	NC_000002.12:g.142954862T>A	NCI-TCGA
rs1396101483	p.Leu143Ile	missense variant	-	NC_000002.12:g.142954863C>A	gnomAD
rs779118861	p.Ser147Pro	missense variant	-	NC_000002.12:g.142956206T>C	ExAC,gnomAD
rs1180006688	p.Phe148Cys	missense variant	-	NC_000002.12:g.142956210T>G	TOPMed
COSM5742881	p.Phe149LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.142956209T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys150Arg	missense variant	-	NC_000002.12:g.142956216A>G	NCI-TCGA
rs754796046	p.Pro151Thr	missense variant	-	NC_000002.12:g.142956218C>A	ExAC,gnomAD
rs146601376	p.Thr152Met	missense variant	-	NC_000002.12:g.142956222C>T	ESP,ExAC,TOPMed,gnomAD
rs1444489351	p.Pro153Thr	missense variant	-	NC_000002.12:g.142956224C>A	TOPMed
rs769737099	p.Pro153Gln	missense variant	-	NC_000002.12:g.142956225C>A	ExAC,gnomAD
rs777529766	p.Arg155Ter	stop gained	-	NC_000002.12:g.142956230C>T	ExAC,TOPMed,gnomAD
rs748827582	p.Arg155Gln	missense variant	-	NC_000002.12:g.142956231G>A	ExAC,gnomAD
rs758865880	p.Tyr156Ter	stop gained	-	NC_000002.12:g.142956235T>A	ExAC,TOPMed,gnomAD
RCV000505808	p.Tyr156Ter	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (VCRL2)	NC_000002.12:g.142956235T>A	ClinVar
RCV000496184	p.Tyr156Ter	nonsense	-	NC_000002.12:g.142956235T>A	ClinVar
NCI-TCGA novel	p.Tyr156His	missense variant	-	NC_000002.12:g.142956233T>C	NCI-TCGA
VAR_080254	p.Tyr156_Asn465del	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 2 (VCRL2) [MIM:617661]	-	UniProt
rs966535456	p.Lys157Ile	missense variant	-	NC_000002.12:g.142956237A>T	TOPMed
COSM1007101	p.Lys157Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956238A>C	NCI-TCGA Cosmic
rs1261672636	p.Leu159Ile	missense variant	-	NC_000002.12:g.142956242C>A	TOPMed,gnomAD
COSM3567295	p.Leu159Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956242C>T	NCI-TCGA Cosmic
rs774217191	p.Leu160Pro	missense variant	-	NC_000002.12:g.142956246T>C	ExAC,gnomAD
rs759252207	p.Glu161Lys	missense variant	-	NC_000002.12:g.142956248G>A	ExAC,gnomAD
rs772375030	p.Ala164Ser	missense variant	-	NC_000002.12:g.142956257G>T	ExAC,gnomAD
rs1336326717	p.Ala164Gly	missense variant	-	NC_000002.12:g.142956258C>G	gnomAD
NCI-TCGA novel	p.Ala164Thr	missense variant	-	NC_000002.12:g.142956257G>A	NCI-TCGA
rs1272229882	p.Phe165Leu	missense variant	-	NC_000002.12:g.142956262C>A	gnomAD
rs760909545	p.Pro166Arg	missense variant	-	NC_000002.12:g.142956264C>G	ExAC,gnomAD
COSM3406915	p.Pro166His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956264C>A	NCI-TCGA Cosmic
COSM3567297	p.Pro166Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956263C>T	NCI-TCGA Cosmic
rs764685144	p.Ser167Cys	missense variant	-	NC_000002.12:g.142956267C>G	ExAC,gnomAD
rs1372767383	p.His169Tyr	missense variant	-	NC_000002.12:g.142956272C>T	TOPMed
rs147928469	p.Ala171Val	missense variant	-	NC_000002.12:g.142957645C>T	ESP,ExAC,gnomAD
rs1160528820	p.Ile172Val	missense variant	-	NC_000002.12:g.142957647A>G	gnomAD
rs765350117	p.Glu173Asp	missense variant	-	NC_000002.12:g.142957652G>T	ExAC,TOPMed,gnomAD
rs201791037	p.Glu173Gly	missense variant	-	NC_000002.12:g.142957651A>G	ESP,ExAC,TOPMed,gnomAD
rs1296237289	p.Ser174Ala	missense variant	-	NC_000002.12:g.142957653T>G	gnomAD
rs373422189	p.Gly180Arg	missense variant	-	NC_000002.12:g.142957671G>A	ExAC,gnomAD
COSM3567301	p.Gly180Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142957672G>A	NCI-TCGA Cosmic
COSM6154311	p.Asn182Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142957677A>T	NCI-TCGA Cosmic
rs375813192	p.Ile183Thr	missense variant	-	NC_000002.12:g.142957681T>C	ESP,ExAC,TOPMed,gnomAD
rs1338201460	p.Glu184Asp	missense variant	-	NC_000002.12:g.142957685A>T	gnomAD
rs369993662	p.Ser186Asn	missense variant	-	NC_000002.12:g.142957690G>A	ESP,ExAC,TOPMed,gnomAD
rs1279826685	p.Met187Arg	missense variant	-	NC_000002.12:g.142957693T>G	TOPMed,gnomAD
rs2304705	p.Arg188Pro	missense variant	-	NC_000002.12:g.142957696G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000148022	p.Arg188Gln	missense variant	-	NC_000002.12:g.142957696G>A	ClinVar
rs2304705	p.Arg188Gln	missense variant	-	NC_000002.12:g.142957696G>A	UniProt,dbSNP
VAR_049724	p.Arg188Gln	missense variant	-	NC_000002.12:g.142957696G>A	UniProt
rs2304705	p.Arg188Gln	missense variant	-	NC_000002.12:g.142957696G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs147103103	p.Arg188Trp	missense variant	-	NC_000002.12:g.142957695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1344164112	p.Lys191Gln	missense variant	-	NC_000002.12:g.142957704A>C	TOPMed
rs778954709	p.Pro192Ala	missense variant	-	NC_000002.12:g.142957707C>G	ExAC,TOPMed,gnomAD
rs375714486	p.Glu194Gln	missense variant	-	NC_000002.12:g.142957713G>C	ESP,ExAC,gnomAD
rs375714486	p.Glu194Lys	missense variant	-	NC_000002.12:g.142957713G>A	ESP,ExAC,gnomAD
rs774265130	p.Gly195Glu	missense variant	-	NC_000002.12:g.142960625G>A	ExAC,gnomAD
COSM6154307	p.Glu197Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960630G>C	NCI-TCGA Cosmic
rs1230304188	p.Glu197Gly	missense variant	-	NC_000002.12:g.142960631A>G	gnomAD
RCV000148021	p.Thr198Ala	missense variant	Hydroxykynureninuria	NC_000002.12:g.142960633A>G	ClinVar
rs1317392728	p.Thr198Ile	missense variant	-	NC_000002.12:g.142960634C>T	gnomAD
rs606231307	p.Thr198Ala	missense variant	-	NC_000002.12:g.142960633A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu199Ser	missense variant	-	NC_000002.12:g.142960637T>C	NCI-TCGA
rs1228998959	p.Arg200Ile	missense variant	-	NC_000002.12:g.142960640G>T	TOPMed
rs761707999	p.Ile201Thr	missense variant	-	NC_000002.12:g.142960643T>C	ExAC,gnomAD
rs1275353050	p.Ile201Met	missense variant	-	NC_000002.12:g.142960644A>G	TOPMed,gnomAD
COSM3990631	p.Ile204Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960653C>G	NCI-TCGA Cosmic
rs765122670	p.Glu206Lys	missense variant	-	NC_000002.12:g.142960657G>A	ExAC,gnomAD
rs1226411007	p.Val207Leu	missense variant	-	NC_000002.12:g.142960660G>T	TOPMed
rs1265027337	p.Ile208Asn	missense variant	-	NC_000002.12:g.142960664T>A	gnomAD
rs762774031	p.Glu209Gly	missense variant	-	NC_000002.12:g.142960667A>G	ExAC,TOPMed,gnomAD
rs575687340	p.Lys210Asn	missense variant	-	NC_000002.12:g.142960671G>T	1000Genomes,TOPMed,gnomAD
rs575687340	p.Lys210Asn	missense variant	-	NC_000002.12:g.142960671G>C	1000Genomes,TOPMed,gnomAD
rs1325043411	p.Lys210Glu	missense variant	-	NC_000002.12:g.142960669A>G	TOPMed
rs1422213337	p.Glu211Lys	missense variant	-	NC_000002.12:g.142960672G>A	gnomAD
NCI-TCGA novel	p.Gly212Arg	missense variant	-	NC_000002.12:g.142960675G>A	NCI-TCGA
rs373954314	p.Asp213Asn	missense variant	-	NC_000002.12:g.142960678G>A	ESP,ExAC,TOPMed,gnomAD
rs543258746	p.Ile215Val	missense variant	-	NC_000002.12:g.142960684A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs780834721	p.Ile215Thr	missense variant	-	NC_000002.12:g.142960685T>C	ExAC,TOPMed,gnomAD
rs543258746	p.Ile215Phe	missense variant	-	NC_000002.12:g.142960684A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752277959	p.Val217Ala	missense variant	-	NC_000002.12:g.142960691T>C	ExAC,TOPMed,gnomAD
COSM4085248	p.Val217Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960690G>A	NCI-TCGA Cosmic
rs980182847	p.Ile218Val	missense variant	-	NC_000002.12:g.142960693A>G	TOPMed
rs1389033485	p.Ile218Thr	missense variant	-	NC_000002.12:g.142960694T>C	gnomAD
COSM6154305	p.Ser221Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960703G>T	NCI-TCGA Cosmic
rs756530181	p.Val223Ala	missense variant	-	NC_000002.12:g.142960709T>C	ExAC,gnomAD
rs777979926	p.Phe225Ser	missense variant	-	NC_000002.12:g.142960715T>C	ExAC,gnomAD
rs1339926248	p.Phe225Leu	missense variant	-	NC_000002.12:g.142960716T>G	gnomAD
rs1196979253	p.Tyr226His	missense variant	-	NC_000002.12:g.142960717T>C	TOPMed
rs1372805256	p.Thr227Ala	missense variant	-	NC_000002.12:g.142960720A>G	gnomAD
rs771373782	p.Gln229Ter	stop gained	-	NC_000002.12:g.142960726C>T	ExAC,gnomAD
rs771373782	p.Gln229Lys	missense variant	-	NC_000002.12:g.142960726C>A	ExAC,gnomAD
rs745961677	p.Pro234Ser	missense variant	-	NC_000002.12:g.142960741C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro234Leu	missense variant	-	NC_000002.12:g.142960742C>T	NCI-TCGA
rs1205632267	p.Thr237Lys	missense variant	-	NC_000002.12:g.142960751C>A	gnomAD
NCI-TCGA novel	p.Thr237Arg	missense variant	-	NC_000002.12:g.142960751C>G	NCI-TCGA
rs1262438307	p.Ala239Ser	missense variant	-	NC_000002.12:g.142960756G>T	gnomAD
rs199529102	p.Ala239Val	missense variant	-	NC_000002.12:g.142960757C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1189391093	p.Gly240Val	missense variant	-	NC_000002.12:g.142960760G>T	gnomAD
rs372047239	p.Gln241Lys	missense variant	-	NC_000002.12:g.142960762C>A	ESP,ExAC,TOPMed,gnomAD
rs141632644	p.Ala242Gly	missense variant	-	NC_000002.12:g.142960766C>G	ESP,ExAC,TOPMed,gnomAD
rs141632644	p.Ala242Val	missense variant	-	NC_000002.12:g.142960766C>T	ESP,ExAC,TOPMed,gnomAD
rs1162278008	p.Ala242Thr	missense variant	-	NC_000002.12:g.142960765G>A	gnomAD
rs766249586	p.Lys243Glu	missense variant	-	NC_000002.12:g.142960768A>G	ExAC,gnomAD
rs1480730349	p.Gly244Val	missense variant	-	NC_000002.12:g.142985085G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly244Asp	missense variant	-	NC_000002.12:g.142985085G>A	NCI-TCGA
rs137982021	p.Cys245Trp	missense variant	-	NC_000002.12:g.142985089T>G	ESP,ExAC,TOPMed,gnomAD
rs751013713	p.Tyr246His	missense variant	-	NC_000002.12:g.142985090T>C	ExAC,gnomAD
rs758940169	p.Tyr246Cys	missense variant	-	NC_000002.12:g.142985091A>G	ExAC,gnomAD
rs1237899313	p.Val247Ala	missense variant	-	NC_000002.12:g.142985094T>C	TOPMed
rs747104364	p.Gly248Asp	missense variant	-	NC_000002.12:g.142985097G>A	ExAC,gnomAD
rs747104364	p.Gly248Val	missense variant	-	NC_000002.12:g.142985097G>T	ExAC,gnomAD
rs1466289057	p.Phe249Ser	missense variant	-	NC_000002.12:g.142985100T>C	TOPMed,gnomAD
rs1356361964	p.Phe249Leu	missense variant	-	NC_000002.12:g.142985099T>C	gnomAD
COSM1325890	p.Asp250His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142985102G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp250Tyr	missense variant	-	NC_000002.12:g.142985102G>T	NCI-TCGA
NCI-TCGA novel	p.Leu251Gln	missense variant	-	NC_000002.12:g.142985106T>A	NCI-TCGA
rs372144733	p.His253Pro	missense variant	-	NC_000002.12:g.142985112A>C	ESP,ExAC,TOPMed,gnomAD
rs372144733	p.His253Arg	missense variant	-	NC_000002.12:g.142985112A>G	ESP,ExAC,TOPMed,gnomAD
rs1275344728	p.Ala254Gly	missense variant	-	NC_000002.12:g.142985115C>G	TOPMed,gnomAD
rs1275344728	p.Ala254Glu	missense variant	-	NC_000002.12:g.142985115C>A	TOPMed,gnomAD
rs774104057	p.Val255Leu	missense variant	-	NC_000002.12:g.142985117G>C	ExAC,gnomAD
rs1297011271	p.Gly256Ter	stop gained	-	NC_000002.12:g.142985120G>T	TOPMed,gnomAD
rs1297011271	p.Gly256Arg	missense variant	-	NC_000002.12:g.142985120G>A	TOPMed,gnomAD
rs1459120531	p.Asn257Asp	missense variant	-	NC_000002.12:g.142985123A>G	TOPMed
rs745624106	p.Asn257Lys	missense variant	-	NC_000002.12:g.142985125T>G	ExAC,gnomAD
rs772019551	p.Val258Phe	missense variant	-	NC_000002.12:g.142985126G>T	ExAC,gnomAD
rs376794557	p.Val258Ala	missense variant	-	NC_000002.12:g.142985127T>C	ESP,ExAC,TOPMed,gnomAD
rs369069974	p.Tyr261Cys	missense variant	-	NC_000002.12:g.142985136A>G	ESP,ExAC,TOPMed,gnomAD
rs1458654786	p.His263Arg	missense variant	-	NC_000002.12:g.142985142A>G	TOPMed
rs763659835	p.His263Tyr	missense variant	-	NC_000002.12:g.142985141C>T	ExAC,gnomAD
rs1395636834	p.Asp264Gly	missense variant	-	NC_000002.12:g.142985145A>G	gnomAD
COSM1528343	p.Trp265Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.142985148G>A	NCI-TCGA Cosmic
rs776207207	p.Trp265Ser	missense variant	-	NC_000002.12:g.142985148G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly266Arg	missense variant	-	NC_000002.12:g.142985150G>A	NCI-TCGA
rs765735410	p.Val267Ala	missense variant	-	NC_000002.12:g.142985154T>C	ExAC,gnomAD
rs765735410	p.Val267Gly	missense variant	-	NC_000002.12:g.142985154T>G	ExAC,gnomAD
rs750846895	p.Ala270Pro	missense variant	-	NC_000002.12:g.142985162G>C	ExAC
NCI-TCGA novel	p.Cys271Ser	missense variant	-	NC_000002.12:g.142985166G>C	NCI-TCGA
NCI-TCGA novel	p.Trp272Ser	missense variant	-	NC_000002.12:g.142985169G>C	NCI-TCGA
rs1421825181	p.Cys273Tyr	missense variant	-	NC_000002.12:g.142985172G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Cys273Phe	missense variant	-	NC_000002.12:g.142985172G>T	NCI-TCGA
rs1242395973	p.Tyr275His	missense variant	-	NC_000002.12:g.142985177T>C	TOPMed
rs1463228910	p.Lys276Arg	missense variant	-	NC_000002.12:g.142985181A>G	gnomAD
COSM282333	p.Lys276Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142985181A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn279His	missense variant	-	NC_000002.12:g.142985954A>C	NCI-TCGA
rs752062234	p.Gly281Val	missense variant	-	NC_000002.12:g.142985961G>T	ExAC,gnomAD
rs149755270	p.Ala282Val	missense variant	-	NC_000002.12:g.142985964C>T	ESP,ExAC,TOPMed,gnomAD
rs767872659	p.Gly283Glu	missense variant	-	NC_000002.12:g.142985967G>A	ExAC,TOPMed,gnomAD
rs751519366	p.Ile285Met	missense variant	-	NC_000002.12:g.142985974T>G	TOPMed
rs898473015	p.Ile285Val	missense variant	-	NC_000002.12:g.142985972A>G	TOPMed,gnomAD
rs1246433975	p.Gly287Asp	missense variant	-	NC_000002.12:g.142985979G>A	gnomAD
rs1246433975	p.Gly287Asp	missense variant	-	NC_000002.12:g.142985979G>A	NCI-TCGA
rs754059081	p.Phe289Leu	missense variant	-	NC_000002.12:g.142985984T>C	ExAC,gnomAD
rs758250680	p.Ile290Leu	missense variant	-	NC_000002.12:g.142985987A>C	ExAC,gnomAD
rs779878611	p.His291Asp	missense variant	-	NC_000002.12:g.142985990C>G	ExAC,gnomAD
rs576933121	p.Glu292Gly	missense variant	-	NC_000002.12:g.142985994A>G	1000Genomes,ExAC,gnomAD
rs1255539529	p.His294Arg	missense variant	-	NC_000002.12:g.142986000A>G	TOPMed,gnomAD
rs1178684440	p.His296Arg	missense variant	-	NC_000002.12:g.142986006A>G	gnomAD
rs544190058	p.Thr297Met	missense variant	-	NC_000002.12:g.142986009C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1212547849	p.Ile298Val	missense variant	-	NC_000002.12:g.142986011A>G	TOPMed
rs769359100	p.Lys299Glu	missense variant	-	NC_000002.12:g.142986014A>G	ExAC,gnomAD
rs907281379	p.Pro300Leu	missense variant	-	NC_000002.12:g.142986018C>T	TOPMed
NCI-TCGA novel	p.Pro300Ser	missense variant	-	NC_000002.12:g.142986017C>T	NCI-TCGA
rs777913012	p.Ala301Val	missense variant	-	NC_000002.12:g.142986021C>T	TOPMed,gnomAD
rs1340815611	p.Val303Leu	missense variant	-	NC_000002.12:g.143029631G>C	gnomAD
COSM4898224	p.Gly304Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143029635G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe306LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.143029640T>-	NCI-TCGA
rs758020532	p.His308Leu	missense variant	-	NC_000002.12:g.143029647A>T	ExAC,gnomAD
NCI-TCGA novel	p.His308Tyr	missense variant	-	NC_000002.12:g.143029646C>T	NCI-TCGA
rs200565083	p.Ser311Gly	missense variant	-	NC_000002.12:g.143029655A>G	1000Genomes,ExAC,gnomAD
rs1355717395	p.Lys315Arg	missense variant	-	NC_000002.12:g.143029668A>G	gnomAD
rs1013609644	p.Met316Val	missense variant	-	NC_000002.12:g.143029670A>G	TOPMed
COSM716523	p.Met316Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143029672G>A	NCI-TCGA Cosmic
rs1023661092	p.Met316Thr	missense variant	-	NC_000002.12:g.143029671T>C	TOPMed
rs1217252735	p.Asp317Tyr	missense variant	-	NC_000002.12:g.143029673G>T	gnomAD
rs747383230	p.Asp317Gly	missense variant	-	NC_000002.12:g.143029674A>G	ExAC,gnomAD
rs1416836319	p.Asn318Asp	missense variant	-	NC_000002.12:g.143029676A>G	TOPMed
rs1346542753	p.Gln321Arg	missense variant	-	NC_000002.12:g.143033242A>G	TOPMed
rs539737850	p.Ile323Phe	missense variant	-	NC_000002.12:g.143033247A>T	1000Genomes,ExAC,gnomAD
rs1315639837	p.Pro324Leu	missense variant	-	NC_000002.12:g.143033251C>T	TOPMed
rs757863674	p.Gly325Arg	missense variant	-	NC_000002.12:g.143033253G>A	ExAC,gnomAD
rs1417877910	p.Val326Ile	missense variant	-	NC_000002.12:g.143033256G>A	gnomAD
rs1399573657	p.Cys327Phe	missense variant	-	NC_000002.12:g.143033260G>T	TOPMed
NCI-TCGA novel	p.Gly328Glu	missense variant	-	NC_000002.12:g.143033263G>A	NCI-TCGA
NCI-TCGA novel	p.Gly328Ter	stop gained	-	NC_000002.12:g.143033262G>T	NCI-TCGA
rs142934146	p.Arg330Gln	missense variant	-	NC_000002.12:g.143033269G>A	NCI-TCGA,NCI-TCGA Cosmic
rs779681494	p.Arg330Ter	stop gained	-	NC_000002.12:g.143033268C>T	ExAC,TOPMed,gnomAD
rs142934146	p.Arg330Gln	missense variant	-	NC_000002.12:g.143033269G>A	ESP,gnomAD
rs779681494	p.Arg330Ter	stop gained	-	NC_000002.12:g.143033268C>T	NCI-TCGA,NCI-TCGA Cosmic
rs751206018	p.Ser332Leu	missense variant	-	NC_000002.12:g.143033275C>T	ExAC,gnomAD
COSM1399781	p.Ser332LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.143033272_143033273TT>-	NCI-TCGA Cosmic
rs367959783	p.Pro334Arg	missense variant	-	NC_000002.12:g.143033281C>G	ESP,ExAC,gnomAD
rs374687401	p.Pro334Ser	missense variant	-	NC_000002.12:g.143033280C>T	ESP,ExAC,TOPMed,gnomAD
COSM3567320	p.Pro334Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143033281C>T	NCI-TCGA Cosmic
rs1281114078	p.Pro335Thr	missense variant	-	NC_000002.12:g.143033283C>A	gnomAD
rs1371036406	p.Ile336Val	missense variant	-	NC_000002.12:g.143033286A>G	gnomAD
rs374836063	p.Leu337Phe	missense variant	-	NC_000002.12:g.143033291G>C	ESP,ExAC,gnomAD
rs1220875148	p.Leu337Val	missense variant	-	NC_000002.12:g.143033289T>G	gnomAD
rs1311160628	p.Leu338Trp	missense variant	-	NC_000002.12:g.143033293T>G	gnomAD
rs778293782	p.Ser341Ala	missense variant	-	NC_000002.12:g.143033301T>G	ExAC,gnomAD
rs1443311315	p.Ser341Phe	missense variant	-	NC_000002.12:g.143033302C>T	TOPMed
rs749333966	p.His343Arg	missense variant	-	NC_000002.12:g.143033308A>G	ExAC,gnomAD
rs369074720	p.Ala344Thr	missense variant	-	NC_000002.12:g.143033310G>A	ESP,TOPMed
rs771131526	p.Ser345Arg	missense variant	-	NC_000002.12:g.143033315T>A	ExAC,gnomAD
rs372960169	p.Leu346Ser	missense variant	-	NC_000002.12:g.143033317T>C	ESP,ExAC,TOPMed,gnomAD
rs932332112	p.Ile348Phe	missense variant	-	NC_000002.12:g.143040428A>T	TOPMed
rs932332112	p.Ile348Val	missense variant	-	NC_000002.12:g.143040428A>G	TOPMed
rs1422704925	p.Phe349Val	missense variant	-	NC_000002.12:g.143040431T>G	gnomAD
RCV000520521	p.Phe349Ter	frameshift	-	NC_000002.12:g.143040431_143040437del	ClinVar
RCV000496114	p.Phe349Ter	frameshift	-	NC_000002.12:g.143040431_143040437del	ClinVar
RCV000505812	p.Phe349Ter	frameshift	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (VCRL2)	NC_000002.12:g.143040431_143040437del	ClinVar
rs772449363	p.Ala352Val	missense variant	-	NC_000002.12:g.143040441C>T	NCI-TCGA
rs772449363	p.Ala352Glu	missense variant	-	NC_000002.12:g.143040441C>A	ExAC,TOPMed
rs772449363	p.Ala352Val	missense variant	-	NC_000002.12:g.143040441C>T	ExAC,TOPMed
rs537147146	p.Lys355Thr	missense variant	-	NC_000002.12:g.143040450A>C	1000Genomes,ExAC,gnomAD
rs555569996	p.Ala356Glu	missense variant	-	NC_000002.12:g.143040453C>A	1000Genomes,ExAC,gnomAD
rs377612575	p.Arg358Gln	missense variant	-	NC_000002.12:g.143040459G>A	ESP,ExAC,TOPMed,gnomAD
rs140239671	p.Arg358Trp	missense variant	-	NC_000002.12:g.143040458C>T	ESP,ExAC,TOPMed,gnomAD
rs377612575	p.Arg358Gln	missense variant	-	NC_000002.12:g.143040459G>A	NCI-TCGA,NCI-TCGA Cosmic
rs140239671	p.Arg358Trp	missense variant	-	NC_000002.12:g.143040458C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser361IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.143040460_143040461insA	NCI-TCGA
rs1321390594	p.Thr365Pro	missense variant	-	NC_000002.12:g.143040479A>C	TOPMed
rs573910765	p.Tyr367Cys	missense variant	-	NC_000002.12:g.143040486A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1192710838	p.Leu368Val	missense variant	-	NC_000002.12:g.143040488C>G	gnomAD
rs1192710838	p.Leu368Val	missense variant	-	NC_000002.12:g.143040488C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu369Val	missense variant	-	NC_000002.12:g.143040492A>T	NCI-TCGA
rs1240633826	p.Leu371Pro	missense variant	-	NC_000002.12:g.143040498T>C	TOPMed,gnomAD
rs767089136	p.Ile372Val	missense variant	-	NC_000002.12:g.143040500A>G	ExAC,gnomAD
rs1182196513	p.Lys373Glu	missense variant	-	NC_000002.12:g.143040503A>G	TOPMed,gnomAD
rs752390021	p.Lys373Arg	missense variant	-	NC_000002.12:g.143040504A>G	ExAC,gnomAD
rs1296112689	p.His374Tyr	missense variant	-	NC_000002.12:g.143040506C>T	TOPMed
rs1440973002	p.His374Arg	missense variant	-	NC_000002.12:g.143040507A>G	TOPMed
rs1359345540	p.Asn375Ile	missense variant	-	NC_000002.12:g.143040510A>T	TOPMed
rs1160444700	p.Asn375Asp	missense variant	-	NC_000002.12:g.143040509A>G	gnomAD
rs1360602335	p.Tyr376His	missense variant	-	NC_000002.12:g.143040512T>C	gnomAD
NCI-TCGA novel	p.Tyr376Cys	missense variant	-	NC_000002.12:g.143040513A>G	NCI-TCGA
rs1335674908	p.Gly377Asp	missense variant	-	NC_000002.12:g.143040516G>A	TOPMed
rs756492868	p.Lys378Thr	missense variant	-	NC_000002.12:g.143040519A>C	ExAC,TOPMed,gnomAD
rs764499772	p.Lys384Arg	missense variant	-	NC_000002.12:g.143040537A>G	ExAC,gnomAD
COSM1007106	p.Lys384Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040538G>T	NCI-TCGA Cosmic
rs1160467890	p.Asn389Ser	missense variant	-	NC_000002.12:g.143040552A>G	TOPMed
rs754344264	p.Ile390Val	missense variant	-	NC_000002.12:g.143040554A>G	ExAC,gnomAD
rs376044073	p.Pro393Leu	missense variant	-	NC_000002.12:g.143040564C>T	ESP,ExAC,TOPMed,gnomAD
rs371441647	p.Pro393Ser	missense variant	-	NC_000002.12:g.143040563C>T	ESP,ExAC,TOPMed,gnomAD
rs969200898	p.Ser394Phe	missense variant	-	NC_000002.12:g.143040567C>T	TOPMed
rs538855421	p.His395Tyr	missense variant	-	NC_000002.12:g.143040569C>T	gnomAD
rs758488765	p.Val396Leu	missense variant	-	NC_000002.12:g.143040572G>T	ExAC,gnomAD
rs1354482334	p.Arg399Trp	missense variant	-	NC_000002.12:g.143040581C>T	TOPMed,gnomAD
rs780204087	p.Arg399Gln	missense variant	-	NC_000002.12:g.143040582G>A	ExAC,TOPMed,gnomAD
rs780204087	p.Arg399Gln	missense variant	-	NC_000002.12:g.143040582G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1282290421	p.Gly400Ala	missense variant	-	NC_000002.12:g.143040585G>C	TOPMed,gnomAD
rs1282290421	p.Gly400Glu	missense variant	-	NC_000002.12:g.143040585G>A	TOPMed,gnomAD
rs769524086	p.Cys401Tyr	missense variant	-	NC_000002.12:g.143040588G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys401AlaPheSerTerUnk	frameshift	-	NC_000002.12:g.143040582G>-	NCI-TCGA
rs1242286393	p.Gln402Lys	missense variant	-	NC_000002.12:g.143040590C>A	gnomAD
rs1442620289	p.Leu403Ile	missense variant	-	NC_000002.12:g.143040593C>A	TOPMed,gnomAD
rs773026391	p.Leu403Pro	missense variant	-	NC_000002.12:g.143040594T>C	ExAC,gnomAD
rs749041193	p.Thr404Ile	missense variant	-	NC_000002.12:g.143040597C>T	ExAC,TOPMed,gnomAD
rs1380785963	p.Thr404Ala	missense variant	-	NC_000002.12:g.143040596A>G	gnomAD
rs1156233556	p.Ile405Thr	missense variant	-	NC_000002.12:g.143040600T>C	gnomAD
COSM3567321	p.Thr406Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040602A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr406Ile	missense variant	-	NC_000002.12:g.143040603C>T	NCI-TCGA
NCI-TCGA novel	p.Ser408Phe	missense variant	-	NC_000002.12:g.143040609C>T	NCI-TCGA
rs774216557	p.Pro410Ser	missense variant	-	NC_000002.12:g.143040614C>T	ExAC,gnomAD
rs978900105	p.Asn411Lys	missense variant	-	NC_000002.12:g.143040619C>G	TOPMed
rs9013	p.Lys412Glu	missense variant	-	NC_000002.12:g.143040620A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3836944	p.Asp413Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040624A>T	NCI-TCGA Cosmic
rs775055128	p.Val414Gly	missense variant	-	NC_000002.12:g.143040627T>G	ExAC,gnomAD
rs767041730	p.Val414Ile	missense variant	-	NC_000002.12:g.143040626G>A	ExAC,gnomAD
COSM1007107	p.Val414Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040627T>C	NCI-TCGA Cosmic
rs1333819022	p.Phe415Leu	missense variant	-	NC_000002.12:g.143040631C>A	gnomAD
rs1378252245	p.Gln416Lys	missense variant	-	NC_000002.12:g.143040632C>A	gnomAD
rs1238970757	p.Glu417Lys	missense variant	-	NC_000002.12:g.143040635G>A	gnomAD
rs1277793192	p.Leu418Ile	missense variant	-	NC_000002.12:g.143040638C>A	gnomAD
rs1347289337	p.Leu418Gln	missense variant	-	NC_000002.12:g.143040639T>A	gnomAD
rs1277793192	p.Leu418Val	missense variant	-	NC_000002.12:g.143040638C>G	gnomAD
rs1220033404	p.Glu419Lys	missense variant	-	NC_000002.12:g.143040641G>A	gnomAD
rs1404642186	p.Arg421Gly	missense variant	-	NC_000002.12:g.143040647A>G	TOPMed
rs760345727	p.Arg421Lys	missense variant	-	NC_000002.12:g.143040648G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg421LysPheSerTerUnk	frameshift	-	NC_000002.12:g.143040641_143040642insA	NCI-TCGA
rs763614648	p.Val423Ala	missense variant	-	NC_000002.12:g.143040654T>C	ExAC,TOPMed,gnomAD
rs763614648	p.Val423Gly	missense variant	-	NC_000002.12:g.143040654T>G	ExAC,TOPMed,gnomAD
rs1245331631	p.Val424Ile	missense variant	-	NC_000002.12:g.143040656G>A	gnomAD
rs1373990650	p.Cys425Arg	missense variant	-	NC_000002.12:g.143042047T>C	TOPMed,gnomAD
rs1023288378	p.Asp426Val	missense variant	-	NC_000002.12:g.143042051A>T	TOPMed,gnomAD
COSM6087858	p.Asp426Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143042050G>T	NCI-TCGA Cosmic
rs765680152	p.Lys427Arg	missense variant	-	NC_000002.12:g.143042054A>G	ExAC,TOPMed,gnomAD
rs147475752	p.Arg428Trp	missense variant	-	NC_000002.12:g.143042056C>T	ESP,ExAC,TOPMed,gnomAD
rs575964691	p.Arg428Gln	missense variant	-	NC_000002.12:g.143042057G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg428Gly	missense variant	-	NC_000002.12:g.143042056C>G	NCI-TCGA
rs766753073	p.Gly432Val	missense variant	-	NC_000002.12:g.143042069G>T	ExAC,TOPMed,gnomAD
rs766753073	p.Gly432Asp	missense variant	-	NC_000002.12:g.143042069G>A	ExAC,TOPMed,gnomAD
rs766753073	p.Gly432Val	missense variant	-	NC_000002.12:g.143042069G>T	NCI-TCGA
rs1279120108	p.Ile433Met	missense variant	-	NC_000002.12:g.143042073T>G	gnomAD
rs150018564	p.Arg434Ter	stop gained	-	NC_000002.12:g.143042074C>T	ESP,ExAC,TOPMed,gnomAD
rs150018564	p.Arg434Ter	stop gained	-	NC_000002.12:g.143042074C>T	NCI-TCGA
rs781396204	p.Arg434Gln	missense variant	-	NC_000002.12:g.143042075G>A	ExAC,TOPMed,gnomAD
rs199546957	p.Val435Ala	missense variant	-	NC_000002.12:g.143042078T>C	ExAC,gnomAD
rs1267030172	p.Val435Met	missense variant	-	NC_000002.12:g.143042077G>A	gnomAD
rs1391979281	p.Pro439Ser	missense variant	-	NC_000002.12:g.143042089C>T	gnomAD
rs1489023975	p.Tyr441Cys	missense variant	-	NC_000002.12:g.143042096A>G	gnomAD
rs1316515247	p.Asn442Ser	missense variant	-	NC_000002.12:g.143042099A>G	TOPMed
rs778648586	p.Ser443Tyr	missense variant	-	NC_000002.12:g.143042102C>A	ExAC,gnomAD
rs778648586	p.Ser443Tyr	missense variant	-	NC_000002.12:g.143042102C>A	NCI-TCGA
NCI-TCGA novel	p.Ser443Phe	missense variant	-	NC_000002.12:g.143042102C>T	NCI-TCGA
rs201260523	p.Asp446Gly	missense variant	-	NC_000002.12:g.143042111A>G	1000Genomes
rs745624060	p.Val447Ile	missense variant	-	NC_000002.12:g.143042113G>A	ExAC,gnomAD
rs1191397775	p.Val447Ala	missense variant	-	NC_000002.12:g.143042114T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr448His	missense variant	-	NC_000002.12:g.143042116T>C	NCI-TCGA
rs1442774855	p.Phe450Cys	missense variant	-	NC_000002.12:g.143042123T>G	gnomAD
NCI-TCGA novel	p.Thr451Asn	missense variant	-	NC_000002.12:g.143042126C>A	NCI-TCGA
rs1011900559	p.Asn452His	missense variant	-	NC_000002.12:g.143042128A>C	gnomAD
rs772071356	p.Asn452Ile	missense variant	-	NC_000002.12:g.143042129A>T	ExAC,TOPMed,gnomAD
rs772071356	p.Asn452Ser	missense variant	-	NC_000002.12:g.143042129A>G	ExAC,TOPMed,gnomAD
rs779801142	p.Leu453Arg	missense variant	-	NC_000002.12:g.143042132T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu454Val	missense variant	-	NC_000002.12:g.143042134C>G	NCI-TCGA
rs768050641	p.Ser456Phe	missense variant	-	NC_000002.12:g.143042141C>T	ExAC,gnomAD
rs776476388	p.Ile457Val	missense variant	-	NC_000002.12:g.143042143A>G	ExAC,TOPMed,gnomAD
rs747776654	p.Ile457Thr	missense variant	-	NC_000002.12:g.143042144T>C	ExAC,gnomAD
rs770320154	p.Leu458Phe	missense variant	-	NC_000002.12:g.143042146C>T	ExAC,TOPMed,gnomAD
rs770320154	p.Leu458Ile	missense variant	-	NC_000002.12:g.143042146C>A	ExAC,TOPMed,gnomAD
rs374401375	p.Asp459His	missense variant	-	NC_000002.12:g.143042149G>C	ESP,ExAC,TOPMed,gnomAD
rs374401375	p.Asp459Asn	missense variant	-	NC_000002.12:g.143042149G>A	ESP,ExAC,TOPMed,gnomAD
rs374401375	p.Asp459Tyr	missense variant	-	NC_000002.12:g.143042149G>T	ESP,ExAC,TOPMed,gnomAD
rs1340907157	p.Ser460Phe	missense variant	-	NC_000002.12:g.143042153C>T	gnomAD
rs906103747	p.Ala461Val	missense variant	-	NC_000002.12:g.143042156C>T	gnomAD
NCI-TCGA novel	p.Ala461Thr	missense variant	-	NC_000002.12:g.143042155G>A	NCI-TCGA
rs774652784	p.Glu462Asp	missense variant	-	NC_000002.12:g.143042160A>C	ExAC,gnomAD
rs200448158	p.Thr463Ala	missense variant	-	NC_000002.12:g.143042161A>G	ESP,ExAC,TOPMed,gnomAD
rs1445922282	p.Lys464Glu	missense variant	-	NC_000002.12:g.143042164A>G	TOPMed
NCI-TCGA novel	p.Asn465Lys	missense variant	-	NC_000002.12:g.143042169T>G	NCI-TCGA
NCI-TCGA novel	p.Asn465LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.143042162_143042163insA	NCI-TCGA
rs1259631263	p.Ter466Gln	stop lost	-	NC_000002.12:g.143042170T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0009421	Comatose	phenotype	HPO
C0011053	Deafness	phenotype	HPO
C0011615	Dermatitis, Atopic	disease	BEFREE
C0013595	Eczema	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0020538	Hypertensive disease	group	BEFREE
C0020649	Hypotension	phenotype	HPO
C0021368	Inflammation	phenotype	CTD_human
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0026826	Muscle Hypertonia	phenotype	HPO
C0029463	Osteosarcoma	disease	BEFREE
C0033860	Psoriasis	disease	BEFREE
C0039231	Tachycardia	phenotype	HPO
C0085580	Essential Hypertension	disease	BEFREE
C0151747	Renal tubular disorder	group	HPO
C0220981	Metabolic acidosis	phenotype	HPO
C0238621	Aminoaciduria	group	HPO
C0268474	Hydroxykynureninuria	phenotype	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0268709	Renal tubular defect	disease	HPO
C0270715	Degenerative Diseases, Central Nervous System	group	CTD_human
C0339789	Congenital deafness	disease	HPO
C0423903	Low intelligence	phenotype	HPO
C0524851	Neurodegenerative Disorders	group	CTD_human
C0557874	Global developmental delay	disease	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0751733	Degenerative Diseases, Spinal Cord	disease	CTD_human
C0917816	Mental deficiency	disease	HPO
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET
C1384666	hearing impairment	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1968949	Cakut	disease	GENOMICS_ENGLAND
C3714756	Intellectual Disability	group	HPO
C4018871	Abnormality of the respiratory system	phenotype	HPO
C4020843	Abnormal urinary amino-acid findings	phenotype	HPO
C4020868	Elevated heart rate	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021745	Abnormality of the musculature	phenotype	HPO
C4024950	Nonprogressive encephalopathy	disease	HPO
C4540014	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	disease	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0030170	pyridoxal phosphate binding	IEA
GO:0030429	kynureninase activity	IDA
GO:0030429	kynureninase activity	IMP
GO:0030429	kynureninase activity	IBA
GO:0042803	protein homodimerization activity	IDA
GO:0061981	3-hydroxykynureninase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006569	tryptophan catabolic process	IMP
GO:0006569	tryptophan catabolic process	TAS
GO:0007568	aging	IEA
GO:0009435	NAD biosynthetic process	IMP
GO:0019441	tryptophan catabolic process to kynurenine	IBA
GO:0019442	tryptophan catabolic process to acetyl-CoA	IEA
GO:0019805	quinolinate biosynthetic process	IDA
GO:0034341	response to interferon-gamma	IDA
GO:0034354	'de novo' NAD biosynthetic process from tryptophan	IEA
GO:0034516	response to vitamin B6	IMP
GO:0043420	anthranilate metabolic process	IDA
GO:0043420	anthranilate metabolic process	IBA
GO:0097053	L-kynurenine catabolic process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IBA
GO:0005739	mitochondrion	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-71240	Tryptophan catabolism	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 KYNU mRNA	29038090
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of KYNU mRNA	25380136; 30723492;
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of KYNU mRNA	20453058
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of KYNU mRNA	21346803
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of KYNU mRNA	19692669
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of KYNU mRNA	25380136
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate 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 KYNU 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 Valproic Acid 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 KYNU mRNA	27188386
C029370	4-toluidine	4-toluidine results in decreased expression of KYNU mRNA	27638505
C496492	abrine	abrine results in increased expression of KYNU mRNA	31054353
C496492	abrine	abrine results in increased expression of KYNU protein	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of KYNU mRNA	21420995; 25704631; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of KYNU mRNA	17562736
C006418	adrenocorticotropin zinc	adrenocorticotropin zinc results in increased expression of KYNU mRNA	19920212
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of KYNU gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of KYNU mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of KYNU mRNA	19770486
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of KYNU mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of KYNU mRNA	15761015
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of KYNU mRNA	25757056
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of KYNU mRNA	24160326; 25351596;
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of KYNU mRNA	24160326
D001280	Atrazine	Atrazine results in decreased expression of KYNU mRNA	29505797
D001379	Azathioprine	Azathioprine results in increased expression of KYNU mRNA	22623647
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of KYNU mRNA	21632981
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in increased expression of KYNU mRNA	19737606
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of KYNU mRNA	18164116
C006780	bisphenol A	bisphenol A results in increased methylation of KYNU promoter	30906313
C006780	bisphenol A	bisphenol A affects the expression of KYNU mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of KYNU mRNA	28711546
C006780	bisphenol A	bisphenol A results in increased expression of KYNU mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of KYNU mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of KYNU gene	28505145
D002104	Cadmium	Cadmium results in increased expression of KYNU mRNA	21172416
D019256	Cadmium Chloride	Cadmium Chloride affects the expression of KYNU mRNA	18804290
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of KYNU mRNA	25993096
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of KYNU mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of KYNU mRNA	12734012
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of KYNU mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of KYNU mRNA]	31150632
C495817	CC-8490	CC-8490 results in increased expression of KYNU mRNA	15604281
C100187	chloropicrin	chloropicrin results in increased expression of KYNU mRNA	26352163
D002945	Cisplatin	Cisplatin results in decreased expression of KYNU mRNA	27392435
D002996	Clomiphene	Clomiphene results in increased expression of KYNU mRNA	26865669
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of KYNU mRNA	19376846
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of KYNU mRNA	20971185
D003300	Copper	Copper results in decreased expression of KYNU mRNA	22465980
D019327	Copper Sulfate	Copper Sulfate results in increased expression of KYNU mRNA	19549813
C030123	coumarin	coumarin results in decreased expression of KYNU mRNA	18480146
D003474	Curcumin	Curcumin results in increased expression of KYNU mRNA	18421014
D016572	Cyclosporine	Cyclosporine results in increased expression of KYNU mRNA	20106945; 25562108;
D016572	Cyclosporine	Cyclosporine results in decreased expression of KYNU mRNA	19770486
C017160	cypermethrin	cypermethrin results in decreased activity of KYNU protein	7175100
D003561	Cytarabine	Cytarabine results in decreased expression of KYNU mRNA	21198554
D003703	Demecolcine	Demecolcine results in increased expression of KYNU mRNA	23649840
C000944	dicrotophos	dicrotophos results in decreased expression of KYNU mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in increased expression of KYNU mRNA	25016146
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of KYNU mRNA	18164116
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of KYNU mRNA	28943392
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of KYNU mRNA	26865669
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in decreased expression of KYNU mRNA	27638505
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of KYNU mRNA	25380136
D004178	Diquat	Diquat results in increased expression of KYNU mRNA	21172416
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate 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 KYNU mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid 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 KYNU mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of KYNU mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of KYNU mRNA	20660070
D004958	Estradiol	Estradiol results in decreased expression of KYNU mRNA	21185374; 26865669; 28711546;
D004970	Estrone	Estrone results in decreased expression of KYNU mRNA	26865669
D005047	Etoposide	KYNU protein affects the susceptibility to Etoposide	16217747
C017690	fenvalerate	fenvalerate results in decreased activity of KYNU protein	7175102
D005419	Flavonoids	Flavonoids results in decreased expression of KYNU mRNA	18035473
D005485	Flutamide	Flutamide results in decreased expression of KYNU mRNA	24136188; 24793618;
D000077267	Fulvestrant	Fulvestrant results in increased expression of KYNU mRNA	26865669
C039281	furan	furan results in decreased expression of KYNU mRNA	25539665; 26194646;
D017965	gamma-Linolenic Acid	gamma-Linolenic Acid results in decreased expression of KYNU mRNA	20664735
D019833	Genistein	Genistein results in decreased expression of KYNU mRNA	26865669
D005897	Glafenine	Glafenine results in decreased expression of KYNU mRNA	24136188
D006046	Gold	Gold results in increased expression of KYNU mRNA	29705079
C412815	GW 4064	GW 4064 results in increased expression of KYNU mRNA	26655953
D006589	Hexestrol	Hexestrol results in decreased expression of KYNU mRNA	26865669
D006861	Hydrogen Peroxide	Hydrogen Peroxide results in decreased expression of KYNU mRNA	18951874
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of KYNU mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of KYNU mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of KYNU mRNA	24796395
C410337	K 7174	K 7174 results in increased expression of KYNU mRNA	24086573
D007657	Ketone Bodies	Ketone Bodies results in decreased expression of KYNU mRNA	16807920
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in increased expression of KYNU mRNA	15784690
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of KYNU mRNA	16507785
D008656	Mestranol	Mestranol results in decreased expression of KYNU mRNA	26865669
D008694	Methamphetamine	Methamphetamine results in decreased expression of KYNU mRNA	26307267
D008701	Methapyrilene	Methapyrilene results in decreased expression of KYNU mRNA	16393664
D008724	Methomyl	Methomyl results in decreased activity of KYNU protein	7175100
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of KYNU mRNA	23179753
C000622638	MLN7243	MLN7243 results in increased sumoylation of KYNU protein	31285264
D009151	Mustard Gas	Mustard Gas results in increased expression of KYNU mRNA	25102026
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of KYNU mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of KYNU mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of KYNU mRNA	25554681
C461488	N-benzylpiperazine	N-benzylpiperazine results in decreased expression of KYNU mRNA	26821219
C051752	nefazodone	nefazodone results in decreased expression of KYNU mRNA	24136188
D009532	Nickel	Nickel results in increased expression of KYNU mRNA	24768652; 25583101;
C022838	nickel chloride	nickel chloride results in increased expression of KYNU mRNA	17312168
C029938	nickel sulfate	nickel sulfate results in increased expression of KYNU mRNA	22714537
C012655	nimesulide	nimesulide results in decreased expression of KYNU mRNA	24136188
D005996	Nitroglycerin	Nitroglycerin results in decreased expression of KYNU protein	28659861
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of KYNU mRNA	20971185
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of KYNU mRNA	23948077
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of KYNU mRNA	19162173
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of KYNU mRNA	23978341
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of KYNU mRNA	19162173
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of KYNU mRNA]	19482888
D010634	Phenobarbital	Phenobarbital results in decreased expression of KYNU mRNA	19482888
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate 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 KYNU mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of KYNU mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of KYNU mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in increased expression of KYNU mRNA	23557933
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of KYNU mRNA	19162173
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of KYNU mRNA	20660070
D017378	Quinolinic Acid	KYNU protein results in increased chemical synthesis of Quinolinic Acid	16365156
D000077185	Resveratrol	[Resveratrol co-treated with Streptozocin] results in decreased expression of KYNU mRNA	25905778
D012402	Rotenone	Rotenone results in decreased expression of KYNU mRNA	29955902
D012402	Rotenone	Rotenone results in decreased expression of KYNU mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of KYNU mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog affects the secretion of KYNU protein	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of KYNU mRNA	22300531; 25351596;
D012834	Silver	Silver results in increased expression of KYNU mRNA	26014281
D012906	Smoke	Smoke results in increased expression of KYNU mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in increased expression of KYNU mRNA	22714537; 28595984;
C016104	sodium bichromate	sodium bichromate results in decreased expression of KYNU mRNA	25993096
D013311	Streptozocin	[Resveratrol co-treated with Streptozocin] results in decreased expression of KYNU mRNA	25905778
C016766	sulforafan	sulforafan results in decreased expression of KYNU mRNA	26833863
D013629	Tamoxifen	Tamoxifen results in increased expression of KYNU mRNA	15604281
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of KYNU mRNA	16214954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of KYNU mRNA	18796159
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of KYNU mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of KYNU mRNA	19692669; 21215274; 21724226;
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of KYNU mRNA	25613284
D013853	Thioacetamide	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of KYNU mRNA	28943392
D013853	Thioacetamide	Thioacetamide results in decreased expression of KYNU mRNA	23411599
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of KYNU protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of KYNU mRNA	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of KYNU mRNA	20133372
D014212	Tretinoin	Tretinoin results in increased expression of KYNU mRNA	16249480
C011559	tributyltin	tributyltin results in decreased expression of KYNU mRNA	29505797
D014260	Triclosan	Triclosan results in decreased expression of KYNU protein	30219713
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of KYNU mRNA	26179874
D000077288	Troglitazone	Troglitazone results in decreased expression of KYNU mRNA	28973697
D014520	Urethane	Urethane results in decreased expression of KYNU mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid 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 KYNU mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of KYNU mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in decreased methylation of KYNU gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of KYNU mRNA	24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of KYNU mRNA	17292431; 17963808;
D014640	Vancomycin	Vancomycin results in increased expression of KYNU mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of KYNU gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of KYNU mRNA	23034163
D014750	Vincristine	Vincristine results in increased expression of KYNU mRNA	23649840
D024483	Vitamin K 3	Vitamin K 3 affects the expression of KYNU mRNA	20044591
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in increased expression of KYNU mRNA	15784690
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of KYNU mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0378	Hydrolase
KW-0621	Polymorphism
KW-0662	Pyridine nucleotide biosynthesis
KW-0663	Pyridoxal phosphate
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR000192	Aminotrans_V_dom
IPR010111	Kynureninase
IPR015424	PyrdxlP-dep_Trfase
IPR015422	PyrdxlP-dep_Trfase_dom1
IPR015421	PyrdxlP-dep_Trfase_major

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00266	Aminotran_5

Gene: KYNU

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