CleftGeneDB-Search

Gene: TPH2

Basic information

Tag	Content
Uniprot ID	Q8IWU9; A6NGA4; Q14CB0;
Entrez ID	121278
Genbank protein ID	AAI14500.1; AAM28946.1;
Genbank nucleotide ID	NM_173353.3
Ensembl protein ID	ENSP00000329093
Ensembl nucleotide ID	ENSG00000139287
Gene name	Tryptophan 5-hydroxylase 2
Gene symbol	TPH2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	22072571
Functional description
Sequence	MQPAMMMFSS KYWARRGFSL DSAVPEEHQL LGSSTLNKPN SGKNDDKGNK GSSKREAATE 60 SGKTAVVFSL KNEVGGLVKA LRLFQEKRVN MVHIESRKSR RRSSEVEIFV DCECGKTEFN 120 ELIQLLKFQT TIVTLNPPEN IWTEEEELED VPWFPRKISE LDKCSHRVLM YGSELDADHP 180 GFKDNVYRQR RKYFVDVAMG YKYGQPIPRV EYTEEETKTW GVVFRELSKL YPTHACREYL 240 KNFPLLTKYC GYREDNVPQL EDVSMFLKER SGFTVRPVAG YLSPRDFLAG LAYRVFHCTQ 300 YIRHGSDPLY TPEPDTCHEL LGHVPLLADP KFAQFSQEIG LASLGASDED VQKLATCYFF 360 TIEFGLCKQE GQLRAYGAGL LSSIGELKHA LSDKACVKAF DPKTTCLQEC LITTFQEAYF 420 VSESFEEAKE KMRDFAKSIT RPFSVYFNPY TQSIEILKDT RSIENVVQDL RSDLNTVCDA 480 LNKMNQYLGI

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)

Protein structural annotations

3D structure in PDB database

PDB ID
4V06

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	TPH2		F1PGH2	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TPH2	102174722	A0A452DPA3	Capra hircus	Prediction	More>>
1:1 ortholog	TPH2	100009684	Q0EAB8	Equus caballus	Prediction	More>>
1:1 ortholog	TPH2	121278	Q8IWU9	Homo sapiens	Publication	More>>
1:1 ortholog	Tph2	216343	Q8CGV2	Mus musculus	Prediction	More>>
1:1 ortholog	TPH2	467070	A0A2I3TG35	Pan troglodytes	Prediction	More>>
1:1 ortholog	TPH2		F1SH22	Sus scrofa	Prediction	More>>
1:1 ortholog	Tph2	317675	Q8CGU9	Rattus norvegicus	Prediction	More>>
1:1 ortholog	tph2	407712	Q1LUE3	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TPH2	rs10879357	PCR-RFLP	22072571

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs779491967	p.Gln2Leu	missense variant	-	NC_000012.12:g.71938991A>T	ExAC,TOPMed,gnomAD
rs1327009569	p.Pro3Leu	missense variant	-	NC_000012.12:g.71938994C>T	gnomAD
rs935519284	p.Pro3Ala	missense variant	-	NC_000012.12:g.71938993C>G	TOPMed
rs1335229408	p.Ala4Val	missense variant	-	NC_000012.12:g.71938997C>T	gnomAD
rs1268134569	p.Met6Arg	missense variant	-	NC_000012.12:g.71939003T>G	gnomAD
rs746671781	p.Ser10Arg	missense variant	-	NC_000012.12:g.71939014A>C	ExAC,gnomAD
rs746671781	p.Ser10Gly	missense variant	-	NC_000012.12:g.71939014A>G	ExAC,gnomAD
rs1290412128	p.Lys11Asn	missense variant	-	NC_000012.12:g.71939019A>C	TOPMed
rs1353440145	p.Tyr12His	missense variant	-	NC_000012.12:g.71939020T>C	TOPMed,gnomAD
rs754630640	p.Tyr12Cys	missense variant	-	NC_000012.12:g.71939021A>G	ExAC,gnomAD
rs781518671	p.Trp13Gly	missense variant	-	NC_000012.12:g.71939023T>G	ExAC,TOPMed,gnomAD
rs781518671	p.Trp13Arg	missense variant	-	NC_000012.12:g.71939023T>C	ExAC,TOPMed,gnomAD
COSM943299	p.Ala14Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71939026G>A	NCI-TCGA Cosmic
COSM695156	p.Arg15Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71939029C>T	NCI-TCGA Cosmic
rs770241310	p.Gly17Val	missense variant	-	NC_000012.12:g.71939036G>T	ExAC,gnomAD
rs773710365	p.Phe18Leu	missense variant	-	NC_000012.12:g.71939038T>C	ExAC,gnomAD
rs749305687	p.Ser19Phe	missense variant	-	NC_000012.12:g.71939042C>T	ExAC,gnomAD
rs1260254880	p.Leu20Pro	missense variant	-	NC_000012.12:g.71939045T>C	gnomAD
NCI-TCGA novel	p.Leu20Met	missense variant	-	NC_000012.12:g.71939044C>A	NCI-TCGA
rs1474478805	p.Asp21Glu	missense variant	-	NC_000012.12:g.71939049T>G	gnomAD
rs374275719	p.Ser22Leu	missense variant	-	NC_000012.12:g.71939051C>T	ESP,ExAC,TOPMed,gnomAD
rs1187685830	p.Ser22Pro	missense variant	-	NC_000012.12:g.71939050T>C	gnomAD
rs774359253	p.Ala23Ser	missense variant	-	NC_000012.12:g.71939053G>T	ExAC,gnomAD
rs150922091	p.Pro25Leu	missense variant	-	NC_000012.12:g.71939060C>T	ESP,ExAC,gnomAD
rs759773095	p.Pro25Thr	missense variant	-	NC_000012.12:g.71939059C>A	ExAC,TOPMed,gnomAD
rs759773095	p.Pro25Ser	missense variant	-	NC_000012.12:g.71939059C>T	ExAC,TOPMed,gnomAD
rs1352119427	p.Glu26Lys	missense variant	-	NC_000012.12:g.71939062G>A	TOPMed
rs1234735969	p.Glu27Lys	missense variant	-	NC_000012.12:g.71939065G>A	gnomAD
rs761705753	p.His28Pro	missense variant	-	NC_000012.12:g.71939069A>C	ExAC,gnomAD
rs1373577543	p.Gln29Glu	missense variant	-	NC_000012.12:g.71939071C>G	TOPMed,gnomAD
rs1373577543	p.Gln29Ter	stop gained	-	NC_000012.12:g.71939071C>T	TOPMed,gnomAD
rs140690004	p.Leu30Gln	missense variant	-	NC_000012.12:g.71939075T>A	ESP,TOPMed,gnomAD
rs140690004	p.Leu30Pro	missense variant	-	NC_000012.12:g.71939075T>C	ESP,TOPMed,gnomAD
rs201958204	p.Gly32Asp	missense variant	-	NC_000012.12:g.71939081G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser34Thr	missense variant	-	NC_000012.12:g.71939086T>A	NCI-TCGA
rs762868327	p.Ser34Pro	missense variant	-	NC_000012.12:g.71939086T>C	ExAC,gnomAD
rs34115267	p.Leu36Val	missense variant	-	NC_000012.12:g.71941584C>G	UniProt,dbSNP
VAR_058939	p.Leu36Val	missense variant	-	NC_000012.12:g.71941584C>G	UniProt
rs34115267	p.Leu36Val	missense variant	-	NC_000012.12:g.71941584C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199775778	p.Leu36Pro	missense variant	-	NC_000012.12:g.71941585T>C	UniProt,dbSNP
VAR_058938	p.Leu36Pro	missense variant	-	NC_000012.12:g.71941585T>C	UniProt
rs199775778	p.Leu36Pro	missense variant	-	NC_000012.12:g.71941585T>C	ExAC,TOPMed,gnomAD
rs199775778	p.Leu36Arg	missense variant	-	NC_000012.12:g.71941585T>G	ExAC,TOPMed,gnomAD
rs778078313	p.Asn37Ser	missense variant	-	NC_000012.12:g.71941588A>G	ExAC,gnomAD
rs1453842206	p.Pro39Thr	missense variant	-	NC_000012.12:g.71941593C>A	gnomAD
NCI-TCGA novel	p.Pro39Arg	missense variant	-	NC_000012.12:g.71941594C>G	NCI-TCGA
rs78162420	p.Ser41Tyr	missense variant	-	NC_000012.12:g.71941600C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs78162420	p.Ser41Tyr	missense variant	-	NC_000012.12:g.71941600C>A	UniProt,dbSNP
VAR_058940	p.Ser41Tyr	missense variant	-	NC_000012.12:g.71941600C>A	UniProt
RCV000334080	p.Ser41Tyr	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.71941600C>A	ClinVar
rs1315366155	p.Gly42Arg	missense variant	-	NC_000012.12:g.71941602G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly42Cys	missense variant	-	NC_000012.12:g.71941602G>T	NCI-TCGA
rs1451451172	p.Asp45Asn	missense variant	-	NC_000012.12:g.71941611G>A	gnomAD
COSM1513190	p.Asp46Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941614G>T	NCI-TCGA Cosmic
rs1462726765	p.Asp46Asn	missense variant	-	NC_000012.12:g.71941614G>A	TOPMed
rs1391163941	p.Gly48Asp	missense variant	-	NC_000012.12:g.71941621G>A	gnomAD
NCI-TCGA novel	p.Gly48Cys	missense variant	-	NC_000012.12:g.71941620G>T	NCI-TCGA
rs745903154	p.Asn49Ser	missense variant	-	NC_000012.12:g.71941624A>G	ExAC,gnomAD
rs1323440710	p.Lys50Ter	stop gained	-	NC_000012.12:g.71941626A>T	gnomAD
rs758541559	p.Gly51Arg	missense variant	-	NC_000012.12:g.71941629G>A	ExAC,gnomAD
COSM6073636	p.Ser52Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941633G>A	NCI-TCGA Cosmic
rs146693226	p.Ser53Arg	missense variant	-	NC_000012.12:g.71941637C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769052606	p.Arg55His	missense variant	-	NC_000012.12:g.71941642G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg55Leu	missense variant	-	NC_000012.12:g.71941642G>T	NCI-TCGA
rs75558144	p.Arg55Cys	missense variant	-	NC_000012.12:g.71941641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs75558144	p.Arg55Cys	missense variant	-	NC_000012.12:g.71941641C>T	UniProt,dbSNP
VAR_058941	p.Arg55Cys	missense variant	-	NC_000012.12:g.71941641C>T	UniProt
rs1237519008	p.Ala57Val	missense variant	-	NC_000012.12:g.71941648C>T	gnomAD
rs773014428	p.Ala58Asp	missense variant	-	NC_000012.12:g.71941651C>A	ExAC,TOPMed,gnomAD
rs773014428	p.Ala58Val	missense variant	-	NC_000012.12:g.71941651C>T	ExAC,TOPMed,gnomAD
COSM6073635	p.Glu60Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941656G>C	NCI-TCGA Cosmic
rs774167006	p.Glu60Gly	missense variant	-	NC_000012.12:g.71941657A>G	ExAC,gnomAD
rs759525241	p.Ser61Arg	missense variant	-	NC_000012.12:g.71941661T>G	ExAC,gnomAD
rs1179340249	p.Gly62Asp	missense variant	-	NC_000012.12:g.71941663G>A	gnomAD
rs775019366	p.Lys63Glu	missense variant	-	NC_000012.12:g.71941665A>G	ExAC,gnomAD
rs373761659	p.Thr64Ile	missense variant	-	NC_000012.12:g.71941669C>T	ESP,ExAC,gnomAD
rs1368874998	p.Thr64Ala	missense variant	-	NC_000012.12:g.71941668A>G	gnomAD
rs557063960	p.Ala65Thr	missense variant	-	NC_000012.12:g.71941671G>A	1000Genomes,ExAC,gnomAD
rs1393293419	p.Phe68Leu	missense variant	-	NC_000012.12:g.71941682C>G	gnomAD
NCI-TCGA novel	p.Lys71Glu	missense variant	-	NC_000012.12:g.71941689A>G	NCI-TCGA
rs1370524283	p.Gly75Cys	missense variant	-	NC_000012.12:g.71941701G>T	gnomAD
COSM3465059	p.Gly76Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941705G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu77PhePheSerTerUnkUnk	frameshift	-	NC_000012.12:g.71941706_71941707insT	NCI-TCGA
rs200000346	p.Val78Ile	missense variant	-	NC_000012.12:g.71941710G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs747112638	p.Leu81Gln	missense variant	-	NC_000012.12:g.71941720T>A	ExAC,gnomAD
rs747112638	p.Leu81Pro	missense variant	-	NC_000012.12:g.71941720T>C	ExAC,gnomAD
rs147125940	p.Arg82Ser	missense variant	-	NC_000012.12:g.71941724G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs148074013	p.Leu83Ile	missense variant	-	NC_000012.12:g.71941725C>A	1000Genomes,ExAC,gnomAD
rs148074013	p.Leu83Val	missense variant	-	NC_000012.12:g.71941725C>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln85Glu	missense variant	-	NC_000012.12:g.71941731C>G	NCI-TCGA
rs1322861235	p.Glu86Asp	missense variant	-	NC_000012.12:g.71944296A>C	TOPMed
rs1176163651	p.Glu86Val	missense variant	-	NC_000012.12:g.71944295A>T	gnomAD
rs77828767	p.Glu86Gln	missense variant	-	NC_000012.12:g.71944294G>C	ESP,ExAC,TOPMed,gnomAD
COSM2101541	p.Glu86Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944294G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys87Gln	missense variant	-	NC_000012.12:g.71944297A>C	NCI-TCGA
rs138035638	p.Arg88Pro	missense variant	-	NC_000012.12:g.71944301G>C	ESP,ExAC,TOPMed,gnomAD
rs138035638	p.Arg88His	missense variant	-	NC_000012.12:g.71944301G>A	ESP,ExAC,TOPMed,gnomAD
RCV000280178	p.Arg88Cys	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.71944300C>T	ClinVar
rs779979959	p.Arg88Cys	missense variant	-	NC_000012.12:g.71944300C>T	ExAC,gnomAD
rs1456444375	p.Asn90Lys	missense variant	-	NC_000012.12:g.71944308C>A	TOPMed
rs1392687685	p.Asn90Ser	missense variant	-	NC_000012.12:g.71944307A>G	TOPMed
rs1392687685	p.Asn90Thr	missense variant	-	NC_000012.12:g.71944307A>C	TOPMed
rs146967917	p.Met91Ile	missense variant	-	NC_000012.12:g.71944311G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs146967917	p.Met91Ile	missense variant	-	NC_000012.12:g.71944311G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776246945	p.Met91Val	missense variant	-	NC_000012.12:g.71944309A>G	ExAC,gnomAD
rs924561014	p.Val92Ala	missense variant	-	NC_000012.12:g.71944313T>C	TOPMed,gnomAD
rs1431959572	p.Val92Ile	missense variant	-	NC_000012.12:g.71944312G>A	gnomAD
COSM3465061	p.His93Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944315C>T	NCI-TCGA Cosmic
rs773675872	p.Ile94Val	missense variant	-	NC_000012.12:g.71944318A>G	ExAC,gnomAD
rs752096291	p.Lys98Ile	missense variant	-	NC_000012.12:g.71944331A>T	ExAC,gnomAD
rs530018658	p.Arg100Gln	missense variant	-	NC_000012.12:g.71944337G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373511053	p.Arg101Ter	stop gained	-	NC_000012.12:g.71944339C>T	ESP,TOPMed,gnomAD
rs149529607	p.Arg101Gln	missense variant	-	NC_000012.12:g.71944340G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser103Ile	missense variant	-	NC_000012.12:g.71944346G>T	NCI-TCGA
COSM1476925	p.Glu107Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944358A>G	NCI-TCGA Cosmic
rs758176787	p.Phe109Leu	missense variant	-	NC_000012.12:g.71944365T>G	ExAC,gnomAD
rs1172420557	p.CysGluCys112CysGluTerValUnk	stop gained	-	NC_000012.12:g.71944379_71944380insAGTG	gnomAD
rs1395022546	p.Gly115Arg	missense variant	-	NC_000012.12:g.71944381G>A	gnomAD
rs1401727349	p.Gly115Glu	missense variant	-	NC_000012.12:g.71944382G>A	gnomAD
rs746919519	p.Lys116Glu	missense variant	-	NC_000012.12:g.71944384A>G	ExAC,gnomAD
rs768689722	p.Lys116Asn	missense variant	-	NC_000012.12:g.71944386A>C	ExAC,gnomAD
rs768689722	p.Lys116Asn	missense variant	-	NC_000012.12:g.71944386A>T	ExAC,gnomAD
COSM943301	p.Glu118Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71944390G>T	NCI-TCGA Cosmic
rs780521084	p.Asn120Lys	missense variant	-	NC_000012.12:g.71944398T>G	ExAC,TOPMed,gnomAD
rs1302695288	p.Ile123Val	missense variant	-	NC_000012.12:g.71944405A>G	TOPMed,gnomAD
COSM695155	p.Ile123Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944406T>C	NCI-TCGA Cosmic
COSM3872459	p.Gln124Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71944408C>T	NCI-TCGA Cosmic
rs548166835	p.Gln124Arg	missense variant	-	NC_000012.12:g.71944409A>G	1000Genomes,ExAC,gnomAD
rs773008990	p.Thr131Ala	missense variant	-	NC_000012.12:g.71944429A>G	ExAC,gnomAD
rs560203761	p.Thr134Met	missense variant	-	NC_000012.12:g.71944439C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1466816439	p.Pro137Arg	missense variant	-	NC_000012.12:g.71944448C>G	gnomAD
rs886049814	p.Pro138Leu	missense variant	-	NC_000012.12:g.71944451C>T	TOPMed,gnomAD
RCV000335040	p.Pro138Leu	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.71944451C>T	ClinVar
COSM695154	p.Pro138Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944450C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn140Asp	missense variant	-	NC_000012.12:g.71944456A>G	NCI-TCGA
rs1192470207	p.Asn140Ser	missense variant	-	NC_000012.12:g.71944457A>G	TOPMed,gnomAD
rs774894224	p.Trp142Gly	missense variant	-	NC_000012.12:g.71944462T>G	ExAC,TOPMed,gnomAD
rs774894224	p.Trp142Arg	missense variant	-	NC_000012.12:g.71944462T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp142Cys	missense variant	-	NC_000012.12:g.71944464G>T	NCI-TCGA
rs759935946	p.Thr143Ile	missense variant	-	NC_000012.12:g.71944466C>T	ExAC,gnomAD
rs527350890	p.Glu145Gly	missense variant	-	NC_000012.12:g.71944472A>G	1000Genomes,ExAC,gnomAD
rs1457074147	p.Glu146Lys	missense variant	-	NC_000012.12:g.71944474G>A	gnomAD
rs776742518	p.Leu148Gln	missense variant	-	NC_000012.12:g.71944589T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu149Asp	missense variant	-	NC_000012.12:g.71944593G>T	NCI-TCGA
NCI-TCGA novel	p.Glu149Gln	missense variant	-	NC_000012.12:g.71944591G>C	NCI-TCGA
rs1435461551	p.Asp150Gly	missense variant	-	NC_000012.12:g.71944595A>G	TOPMed
rs761976247	p.Asp150Asn	missense variant	-	NC_000012.12:g.71944594G>A	ExAC,gnomAD
rs1346046481	p.Val151Gly	missense variant	-	NC_000012.12:g.71944598T>G	TOPMed
rs1202088019	p.Trp153Leu	missense variant	-	NC_000012.12:g.71944604G>T	gnomAD
rs1340978908	p.Trp153Arg	missense variant	-	NC_000012.12:g.71944603T>C	gnomAD
rs767269211	p.Arg156Trp	missense variant	-	NC_000012.12:g.71944612C>T	ExAC,gnomAD
rs147469527	p.Arg156Gln	missense variant	-	NC_000012.12:g.71944613G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu160Ala	missense variant	-	NC_000012.12:g.71944625A>C	NCI-TCGA
rs756158215	p.His166Tyr	missense variant	-	NC_000012.12:g.71944642C>T	ExAC,gnomAD
rs1373866647	p.His166Gln	missense variant	-	NC_000012.12:g.71944644C>G	gnomAD
NCI-TCGA novel	p.Arg167Ile	missense variant	-	NC_000012.12:g.71944646G>T	NCI-TCGA
rs1166293621	p.Leu169Val	missense variant	-	NC_000012.12:g.71944651C>G	gnomAD
rs370259255	p.Met170Ile	missense variant	-	NC_000012.12:g.71944656G>A	ESP,TOPMed
rs1190911999	p.Tyr171Cys	missense variant	-	NC_000012.12:g.71944658A>G	TOPMed
rs1389615107	p.Tyr171Asn	missense variant	-	NC_000012.12:g.71944657T>A	gnomAD
COSM3465063	p.Ser173Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944664C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu174Lys	missense variant	-	NC_000012.12:g.71944666G>A	NCI-TCGA
rs574407896	p.His179Tyr	missense variant	-	NC_000012.12:g.71944681C>T	gnomAD
COSM3465064	p.Pro180Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944685C>T	NCI-TCGA Cosmic
rs1327839278	p.Pro180Arg	missense variant	-	NC_000012.12:g.71944685C>G	gnomAD
NCI-TCGA novel	p.Gly181Glu	missense variant	-	NC_000012.12:g.71949589G>A	NCI-TCGA
NCI-TCGA novel	p.Asp184Asn	missense variant	-	NC_000012.12:g.71949597G>A	NCI-TCGA
rs756840935	p.Asn185Lys	missense variant	-	NC_000012.12:g.71949602T>G	ExAC,gnomAD
rs756840935	p.Asn185Lys	missense variant	-	NC_000012.12:g.71949602T>A	ExAC,gnomAD
rs1319439550	p.Tyr187Cys	missense variant	-	NC_000012.12:g.71949607A>G	gnomAD
COSM3465065	p.Arg188Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71949609C>T	NCI-TCGA Cosmic
rs1442474331	p.Arg188Gln	missense variant	-	NC_000012.12:g.71949610G>A	gnomAD
NCI-TCGA novel	p.Gln189His	missense variant	-	NC_000012.12:g.71949614G>T	NCI-TCGA
rs1385160650	p.Lys192Thr	missense variant	-	NC_000012.12:g.71949622A>C	gnomAD
rs1329923017	p.Val195Glu	missense variant	-	NC_000012.12:g.71949631T>A	gnomAD
rs1383732880	p.Met199Ile	missense variant	-	NC_000012.12:g.71949644G>T	gnomAD
rs1233143189	p.Gly200Asp	missense variant	-	NC_000012.12:g.71949646G>A	gnomAD
rs1189508059	p.Tyr203Phe	missense variant	-	NC_000012.12:g.71949655A>T	TOPMed
rs893262803	p.Tyr203His	missense variant	-	NC_000012.12:g.71949654T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly204Asp	missense variant	-	NC_000012.12:g.71972521G>A	NCI-TCGA
rs1353496369	p.Gln205Ter	stop gained	-	NC_000012.12:g.71972523C>T	TOPMed,gnomAD
rs17110563	p.Pro206Ser	missense variant	-	NC_000012.12:g.71972526C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371804418	p.Pro206Arg	missense variant	-	NC_000012.12:g.71972527C>G	ESP
RCV000003314	p.Pro206Ser	missense variant	Bipolar affective disorder, susceptibility to	NC_000012.12:g.71972526C>T	ClinVar
rs764579606	p.Pro208Thr	missense variant	-	NC_000012.12:g.71972532C>A	ExAC,gnomAD
COSM3465066	p.Pro208Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972532C>T	NCI-TCGA Cosmic
rs754297429	p.Val210Met	missense variant	-	NC_000012.12:g.71972538G>A	ExAC,gnomAD
rs1350043733	p.Tyr212Cys	missense variant	-	NC_000012.12:g.71972545A>G	TOPMed
NCI-TCGA novel	p.Thr213Ser	missense variant	-	NC_000012.12:g.71972547A>T	NCI-TCGA
NCI-TCGA novel	p.Glu215Lys	missense variant	-	NC_000012.12:g.71972553G>A	NCI-TCGA
NCI-TCGA novel	p.Glu216Ter	stop gained	-	NC_000012.12:g.71972556G>T	NCI-TCGA
rs745975775	p.Thr219Ser	missense variant	-	NC_000012.12:g.71972566C>G	ExAC,gnomAD
rs371750104	p.Trp220Ter	stop gained	-	NC_000012.12:g.71972569G>A	ESP,ExAC,TOPMed,gnomAD
rs1302360081	p.Gly221Val	missense variant	-	NC_000012.12:g.71972572G>T	TOPMed
rs780434655	p.Val222Ile	missense variant	-	NC_000012.12:g.71972574G>A	ExAC,gnomAD
rs747311892	p.Val223Leu	missense variant	-	NC_000012.12:g.71972577G>T	ExAC,gnomAD
rs1386735125	p.Arg225Trp	missense variant	-	NC_000012.12:g.71972583C>T	gnomAD
rs139896303	p.Arg225Gln	missense variant	-	NC_000012.12:g.71972584G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139896303	p.Arg225Gln	missense variant	-	NC_000012.12:g.71972584G>A	NCI-TCGA
rs1386735125	p.Arg225Trp	missense variant	-	NC_000012.12:g.71972583C>T	NCI-TCGA
COSM3688433	p.Glu226Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972586G>A	NCI-TCGA Cosmic
rs1396764602	p.Lys229Arg	missense variant	-	NC_000012.12:g.71972596A>G	gnomAD
COSM1323079	p.Pro232Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972604C>G	NCI-TCGA Cosmic
COSM3812969	p.Pro232His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972605C>A	NCI-TCGA Cosmic
rs773096016	p.Pro232Ser	missense variant	-	NC_000012.12:g.71972604C>T	ExAC,gnomAD
rs773096016	p.Pro232Ser	missense variant	-	NC_000012.12:g.71972604C>T	NCI-TCGA,NCI-TCGA Cosmic
rs749155035	p.Pro232Leu	missense variant	-	NC_000012.12:g.71972605C>T	ExAC,TOPMed,gnomAD
rs773814329	p.His234Arg	missense variant	-	NC_000012.12:g.71972611A>G	ExAC,gnomAD
COSM6073633	p.Ala235Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972614C>A	NCI-TCGA Cosmic
rs1286217998	p.Ala235Thr	missense variant	-	NC_000012.12:g.71972613G>A	gnomAD
rs771657319	p.Arg237Gln	missense variant	-	NC_000012.12:g.71972620G>A	ExAC,TOPMed,gnomAD
rs759053436	p.Arg237Ter	stop gained	-	NC_000012.12:g.71972619C>T	ExAC,gnomAD
rs771657319	p.Arg237Pro	missense variant	-	NC_000012.12:g.71972620G>C	ExAC,TOPMed,gnomAD
COSM5043133	p.Glu238Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972624G>T	NCI-TCGA Cosmic
rs1449407748	p.Tyr239Ter	stop gained	-	NC_000012.12:g.71972627T>A	gnomAD
NCI-TCGA novel	p.Tyr239Phe	missense variant	-	NC_000012.12:g.71972626A>T	NCI-TCGA
rs1220122053	p.Lys241Gln	missense variant	-	NC_000012.12:g.71972631A>C	gnomAD
NCI-TCGA novel	p.Asn242LysPheSerTerUnk	frameshift	-	NC_000012.12:g.71972630_71972631insA	NCI-TCGA
COSM5456360	p.Phe243Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972637T>G	NCI-TCGA Cosmic
rs1481207864	p.Pro244Leu	missense variant	-	NC_000012.12:g.71972641C>T	gnomAD
rs1481207864	p.Pro244Leu	missense variant	-	NC_000012.12:g.71972641C>T	NCI-TCGA
rs754251765	p.Leu245Met	missense variant	-	NC_000012.12:g.71972643C>A	ExAC,gnomAD
rs1410197818	p.Thr247Ser	missense variant	-	NC_000012.12:g.71972650C>G	gnomAD
rs1472415982	p.Lys248Glu	missense variant	-	NC_000012.12:g.71972652A>G	gnomAD
rs1044303615	p.Tyr249Cys	missense variant	-	NC_000012.12:g.71972656A>G	TOPMed
rs762185691	p.Gly251Val	missense variant	-	NC_000012.12:g.71972662G>T	ExAC,gnomAD
rs1165888070	p.Gly251Ser	missense variant	-	NC_000012.12:g.71972661G>A	gnomAD
rs1403700310	p.Tyr252Ter	stop gained	-	NC_000012.12:g.71972666C>G	gnomAD
rs765842055	p.Arg253Gly	missense variant	-	NC_000012.12:g.71972667A>G	ExAC,TOPMed,gnomAD
rs1355045873	p.Arg253Ser	missense variant	-	NC_000012.12:g.71972669A>C	gnomAD
rs1444273105	p.Glu254Lys	missense variant	-	NC_000012.12:g.71972670G>A	gnomAD
rs1349614764	p.Asp255Glu	missense variant	-	NC_000012.12:g.71972675C>A	TOPMed,gnomAD
rs1349614764	p.Asp255Glu	missense variant	-	NC_000012.12:g.71972675C>A	NCI-TCGA
NCI-TCGA novel	p.Pro258LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.71972682C>-	NCI-TCGA
rs751697696	p.Glu261Lys	missense variant	-	NC_000012.12:g.71972691G>A	ExAC,TOPMed,gnomAD
rs1227246957	p.Asp262Ala	missense variant	-	NC_000012.12:g.71972695A>C	gnomAD
rs1227246957	p.Asp262Gly	missense variant	-	NC_000012.12:g.71972695A>G	gnomAD
COSM4044711	p.Ser264Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972701C>T	NCI-TCGA Cosmic
rs755272489	p.Met265Thr	missense variant	-	NC_000012.12:g.71972704T>C	ExAC,gnomAD
rs777387277	p.Phe266Leu	missense variant	-	NC_000012.12:g.71972708T>A	ExAC,TOPMed,gnomAD
rs1261065645	p.Lys268Ile	missense variant	-	NC_000012.12:g.71972713A>T	TOPMed
rs1207894902	p.Glu269Lys	missense variant	-	NC_000012.12:g.71972715G>A	gnomAD
NCI-TCGA novel	p.Glu269Gln	missense variant	-	NC_000012.12:g.71972715G>C	NCI-TCGA
NCI-TCGA novel	p.Arg270Ser	missense variant	-	NC_000012.12:g.71978956G>C	NCI-TCGA
rs755118249	p.Arg270Lys	missense variant	-	NC_000012.12:g.71978955G>A	ExAC,gnomAD
rs1411565002	p.Ser271Cys	missense variant	-	NC_000012.12:g.71978958C>G	TOPMed
NCI-TCGA novel	p.Gly272Ala	missense variant	-	NC_000012.12:g.71978961G>C	NCI-TCGA
rs753521841	p.Thr274Met	missense variant	-	NC_000012.12:g.71978967C>T	ExAC,TOPMed,gnomAD
rs778748809	p.Val275Leu	missense variant	-	NC_000012.12:g.71978969G>T	ExAC,gnomAD
rs773797105	p.Arg276Ser	missense variant	-	NC_000012.12:g.71978974G>T	ExAC,TOPMed,gnomAD
rs373088979	p.Pro277Leu	missense variant	-	NC_000012.12:g.71978976C>T	ESP,ExAC,TOPMed,gnomAD
rs373088979	p.Pro277Leu	missense variant	-	NC_000012.12:g.71978976C>T	NCI-TCGA,NCI-TCGA Cosmic
rs768134247	p.Val278Leu	missense variant	-	NC_000012.12:g.71978978G>C	ExAC
rs768134247	p.Val278Leu	missense variant	-	NC_000012.12:g.71978978G>C	NCI-TCGA,NCI-TCGA Cosmic
rs776332621	p.Ala279Thr	missense variant	-	NC_000012.12:g.71978981G>A	ExAC,gnomAD
rs1481357625	p.Ser283Thr	missense variant	-	NC_000012.12:g.71978994G>C	gnomAD
COSM4044713	p.Ser283Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71978994G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser283Arg	missense variant	-	NC_000012.12:g.71978995C>G	NCI-TCGA
rs1176183110	p.Ser283Arg	missense variant	-	NC_000012.12:g.71978995C>A	gnomAD
NCI-TCGA novel	p.Pro284Thr	missense variant	-	NC_000012.12:g.71978996C>A	NCI-TCGA
NCI-TCGA novel	p.Pro284Gln	missense variant	-	NC_000012.12:g.71978997C>A	NCI-TCGA
rs770250587	p.Pro284Ser	missense variant	-	NC_000012.12:g.71978996C>T	ExAC,gnomAD
rs1003537800	p.Arg285Gln	missense variant	-	NC_000012.12:g.71979000G>A	gnomAD
rs763501912	p.Leu288Met	missense variant	-	NC_000012.12:g.71979008C>A	ExAC,gnomAD
rs1318602856	p.Ala289Glu	missense variant	-	NC_000012.12:g.71979012C>A	gnomAD
NCI-TCGA novel	p.Gly290Ter	stop gained	-	NC_000012.12:g.71979014G>T	NCI-TCGA
rs1328017774	p.Leu291Pro	missense variant	-	NC_000012.12:g.71979018T>C	TOPMed
rs1258663676	p.His297Asn	missense variant	-	NC_000012.12:g.71979035C>A	TOPMed
rs1237324362	p.Cys298Ser	missense variant	-	NC_000012.12:g.71979039G>C	TOPMed
NCI-TCGA novel	p.Thr299Ser	missense variant	-	NC_000012.12:g.71979042C>G	NCI-TCGA
rs1444795844	p.Gln300Lys	missense variant	-	NC_000012.12:g.71979044C>A	gnomAD
rs120074176	p.Arg303Trp	missense variant	-	NC_000012.12:g.71979053C>T	ESP,ExAC,gnomAD
rs120074176	p.Arg303Trp	missense variant	Attention deficit-hyperactivity disorder 7 (ADHD7)	NC_000012.12:g.71979053C>T	UniProt,dbSNP
VAR_058942	p.Arg303Trp	missense variant	Attention deficit-hyperactivity disorder 7 (ADHD7)	NC_000012.12:g.71979053C>T	UniProt
rs953539388	p.Arg303Gln	missense variant	-	NC_000012.12:g.71979054G>A	gnomAD
rs120074176	p.Arg303Trp	missense variant	-	NC_000012.12:g.71979053C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000003313	p.Arg303Trp	missense variant	Attention deficit-hyperactivity disorder 7 (ADHD7)	NC_000012.12:g.71979053C>T	ClinVar
rs953539388	p.Arg303Gln	missense variant	-	NC_000012.12:g.71979054G>A	NCI-TCGA Cosmic
rs369839308	p.Gly305Ser	missense variant	-	NC_000012.12:g.71979059G>A	ESP,TOPMed
NCI-TCGA novel	p.Ser306Ter	stop gained	-	NC_000012.12:g.71979063C>G	NCI-TCGA
rs1277010383	p.Pro308Ser	missense variant	-	NC_000012.12:g.71979068C>T	gnomAD
COSM1364104	p.Leu309Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71979071C>A	NCI-TCGA Cosmic
rs756370445	p.Pro312Leu	missense variant	-	NC_000012.12:g.71979081C>T	ExAC,gnomAD
rs756370445	p.Pro312Leu	missense variant	-	NC_000012.12:g.71979081C>T	NCI-TCGA,NCI-TCGA Cosmic
rs750241429	p.Pro314Leu	missense variant	-	NC_000012.12:g.71979087C>T	ExAC,TOPMed,gnomAD
COSM73051	p.Thr316Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994444C>G	NCI-TCGA Cosmic
rs775596364	p.Thr316Ala	missense variant	-	NC_000012.12:g.71994443A>G	ExAC,gnomAD
rs1445123310	p.His318Arg	missense variant	-	NC_000012.12:g.71994450A>G	NCI-TCGA Cosmic
rs1445123310	p.His318Arg	missense variant	-	NC_000012.12:g.71994450A>G	TOPMed
NCI-TCGA novel	p.His318Asn	missense variant	-	NC_000012.12:g.71994449C>A	NCI-TCGA
rs760839526	p.Leu320Phe	missense variant	-	NC_000012.12:g.71994455C>T	ExAC,gnomAD
rs1286230877	p.His323Arg	missense variant	-	NC_000012.12:g.71994465A>G	TOPMed
rs1055143660	p.Val324Leu	missense variant	-	NC_000012.12:g.71994467G>C	TOPMed,gnomAD
rs1055143660	p.Val324Ile	missense variant	-	NC_000012.12:g.71994467G>A	TOPMed,gnomAD
COSM3465069	p.Pro325Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994470C>T	NCI-TCGA Cosmic
rs2887147	p.Ala328Val	missense variant	-	NC_000012.12:g.71994480C>T	ExAC,gnomAD
rs2887147	p.Ala328Val	missense variant	-	NC_000012.12:g.71994480C>T	UniProt,dbSNP
VAR_058943	p.Ala328Val	missense variant	-	NC_000012.12:g.71994480C>T	UniProt
rs2887147	p.Ala328Val	missense variant	-	NC_000012.12:g.71994480C>T	NCI-TCGA,NCI-TCGA Cosmic
rs2887147	p.Ala328Glu	missense variant	-	NC_000012.12:g.71994480C>A	ExAC,gnomAD
COSM195281	p.Lys331Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994489A>T	NCI-TCGA Cosmic
COSM6138132	p.Lys331Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994489A>C	NCI-TCGA Cosmic
rs946786142	p.Gln334Glu	missense variant	-	NC_000012.12:g.71994497C>G	TOPMed
COSM4398323	p.Ser336Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994504C>T	NCI-TCGA Cosmic
rs143153059	p.Ile339Met	missense variant	-	NC_000012.12:g.71994514A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6138131	p.Gly340Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994515G>A	NCI-TCGA Cosmic
rs755764502	p.Ala342Val	missense variant	-	NC_000012.12:g.71994522C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala342Ser	missense variant	-	NC_000012.12:g.71994521G>T	NCI-TCGA
rs755764502	p.Ala342Glu	missense variant	-	NC_000012.12:g.71994522C>A	ExAC,TOPMed,gnomAD
COSM6073632	p.Leu344Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994528T>G	NCI-TCGA Cosmic
rs1408336116	p.Ala346Val	missense variant	-	NC_000012.12:g.71994534C>T	gnomAD
rs1247098915	p.Asp348Gly	missense variant	-	NC_000012.12:g.71994540A>G	gnomAD
rs370276646	p.Asp348His	missense variant	-	NC_000012.12:g.71994539G>C	ESP,ExAC,TOPMed,gnomAD
rs1461374724	p.Glu349Val	missense variant	-	NC_000012.12:g.71994543A>T	TOPMed,gnomAD
COSM431823	p.Glu349Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994542G>A	NCI-TCGA Cosmic
rs775508656	p.Val351Ile	missense variant	-	NC_000012.12:g.71994548G>A	ExAC,gnomAD
rs1253828696	p.Gln352Arg	missense variant	-	NC_000012.12:g.71994552A>G	gnomAD
COSM6138130	p.Ala355Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994561C>A	NCI-TCGA Cosmic
rs760757722	p.Thr356Lys	missense variant	-	NC_000012.12:g.71994564C>A	ExAC,TOPMed,gnomAD
rs760757722	p.Thr356Met	missense variant	-	NC_000012.12:g.71994564C>T	ExAC,TOPMed,gnomAD
COSM4942080	p.Thr361Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72022411A>T	NCI-TCGA Cosmic
rs779288303	p.Ile362Thr	missense variant	-	NC_000012.12:g.72022415T>C	ExAC,TOPMed,gnomAD
rs756911079	p.Ile362Val	missense variant	-	NC_000012.12:g.72022414A>G	ExAC,TOPMed,gnomAD
rs146667593	p.Glu363Lys	missense variant	-	NC_000012.12:g.72022417G>A	ESP,ExAC,TOPMed,gnomAD
rs146667593	p.Glu363Lys	missense variant	-	NC_000012.12:g.72022417G>A	NCI-TCGA,NCI-TCGA Cosmic
rs780525755	p.Gly365Asp	missense variant	-	NC_000012.12:g.72022424G>A	ExAC
rs747579746	p.Leu366Ile	missense variant	-	NC_000012.12:g.72022426C>A	ExAC,gnomAD
rs768689276	p.Lys368Glu	missense variant	-	NC_000012.12:g.72022432A>G	ExAC,gnomAD
rs776738248	p.Lys368Arg	missense variant	-	NC_000012.12:g.72022433A>G	ExAC,gnomAD
rs762044026	p.Arg374Trp	missense variant	-	NC_000012.12:g.72022450C>T	ExAC,TOPMed,gnomAD
rs1435928815	p.Arg374Gln	missense variant	-	NC_000012.12:g.72022451G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala375Val	missense variant	-	NC_000012.12:g.72022454C>T	NCI-TCGA
NCI-TCGA novel	p.Ala378Glu	missense variant	-	NC_000012.12:g.72022463C>A	NCI-TCGA
rs78369038	p.Ala378Thr	missense variant	-	NC_000012.12:g.72022462G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly379Glu	missense variant	-	NC_000012.12:g.72022466G>A	NCI-TCGA
NCI-TCGA novel	p.Gly379Ter	stop gained	-	NC_000012.12:g.72022465G>T	NCI-TCGA
rs1297274899	p.Leu381Pro	missense variant	-	NC_000012.12:g.72022472T>C	TOPMed
NCI-TCGA novel	p.Leu381Ile	missense variant	-	NC_000012.12:g.72022471C>A	NCI-TCGA
rs371065822	p.Ser383Phe	missense variant	-	NC_000012.12:g.72022478C>T	ESP,ExAC,gnomAD
rs760738354	p.Ile384Ser	missense variant	-	NC_000012.12:g.72022481T>G	ExAC
rs763677154	p.Gly385Glu	missense variant	-	NC_000012.12:g.72022484G>A	ExAC,TOPMed,gnomAD
rs753313063	p.Glu386Gln	missense variant	-	NC_000012.12:g.72022486G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu386Ter	stop gained	-	NC_000012.12:g.72022486G>T	NCI-TCGA
rs1357596764	p.Lys388Gln	missense variant	-	NC_000012.12:g.72022492A>C	gnomAD
rs533065952	p.Ala390Thr	missense variant	-	NC_000012.12:g.72031261G>A	TOPMed
rs533065952	p.Ala390Ser	missense variant	-	NC_000012.12:g.72031261G>T	TOPMed
rs1161676605	p.Asp393Val	missense variant	-	NC_000012.12:g.72031271A>T	gnomAD
NCI-TCGA novel	p.Ala395Val	missense variant	-	NC_000012.12:g.72031277C>T	NCI-TCGA
rs1456779951	p.Cys396Phe	missense variant	-	NC_000012.12:g.72031280G>T	gnomAD
COSM1364108	p.Cys396Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031280G>A	NCI-TCGA Cosmic
COSM4044715	p.Val397Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031283T>C	NCI-TCGA Cosmic
rs1395026610	p.Ala399Val	missense variant	-	NC_000012.12:g.72031289C>T	TOPMed
rs191507707	p.Thr404Lys	missense variant	-	NC_000012.12:g.72031304C>A	1000Genomes,ExAC,gnomAD
rs753015150	p.Leu407Phe	missense variant	-	NC_000012.12:g.72031314A>C	TOPMed,gnomAD
COSM3465075	p.Glu409Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031318G>A	NCI-TCGA Cosmic
rs933072753	p.Leu411Phe	missense variant	-	NC_000012.12:g.72031324C>T	TOPMed
NCI-TCGA novel	p.Ile412Met	missense variant	-	NC_000012.12:g.72031329C>G	NCI-TCGA
rs889316262	p.Thr414Ser	missense variant	-	NC_000012.12:g.72031334C>G	TOPMed
rs756147028	p.Thr414Ser	missense variant	-	NC_000012.12:g.72031333A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe415Val	missense variant	-	NC_000012.12:g.72031336T>G	NCI-TCGA
rs1016965894	p.Glu417Lys	missense variant	-	NC_000012.12:g.72031342G>A	TOPMed,gnomAD
rs899156318	p.Glu417Gly	missense variant	-	NC_000012.12:g.72031343A>G	TOPMed,gnomAD
rs1324072185	p.Val421Ile	missense variant	-	NC_000012.12:g.72031354G>A	gnomAD
COSM173703	p.Glu423Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.72031360G>T	NCI-TCGA Cosmic
rs1268739752	p.Glu430Lys	missense variant	-	NC_000012.12:g.72031381G>A	gnomAD
rs371729573	p.Glu430Gly	missense variant	-	NC_000012.12:g.72031382A>G	ESP,ExAC,TOPMed,gnomAD
rs375357832	p.Met432Ile	missense variant	-	NC_000012.12:g.72031389G>T	ESP,ExAC,TOPMed,gnomAD
rs1205727913	p.Met432Thr	missense variant	-	NC_000012.12:g.72031388T>C	TOPMed
NCI-TCGA novel	p.Arg433Lys	missense variant	-	NC_000012.12:g.72031391G>A	NCI-TCGA
VAR_065019	p.Arg433Gly	Missense	-	-	UniProt
rs781089624	p.Asp434Glu	missense variant	-	NC_000012.12:g.72031524C>A	ExAC,gnomAD
rs932872287	p.Asp434Val	missense variant	-	NC_000012.12:g.72031523A>T	TOPMed
rs375168296	p.Ala436Gly	missense variant	-	NC_000012.12:g.72031529C>G	ESP,ExAC,gnomAD
rs375168296	p.Ala436Glu	missense variant	-	NC_000012.12:g.72031529C>A	ESP,ExAC,gnomAD
rs1050591696	p.Ile439Val	missense variant	-	NC_000012.12:g.72031537A>G	TOPMed,gnomAD
rs1050591696	p.Ile439Phe	missense variant	-	NC_000012.12:g.72031537A>T	TOPMed,gnomAD
RCV000003312	p.Arg441His	missense variant	Unipolar depression, susceptibility to	NC_000012.12:g.72031544G>A	ClinVar
rs120074175	p.Arg441His	missense variant	-	NC_000012.12:g.72031544G>A	UniProt,dbSNP
VAR_026749	p.Arg441His	missense variant	-	NC_000012.12:g.72031544G>A	UniProt
rs911612184	p.Arg441Cys	missense variant	-	NC_000012.12:g.72031543C>T	-
rs120074175	p.Arg441His	missense variant	-	NC_000012.12:g.72031544G>A	ExAC,gnomAD
rs1297677620	p.Pro442Thr	missense variant	-	NC_000012.12:g.72031546C>A	gnomAD
rs762461080	p.Val445Leu	missense variant	-	NC_000012.12:g.72031555G>T	ExAC,gnomAD
rs770482427	p.Val445Ala	missense variant	-	NC_000012.12:g.72031556T>C	ExAC
NCI-TCGA novel	p.Tyr446Cys	missense variant	-	NC_000012.12:g.72031559A>G	NCI-TCGA
rs773992105	p.Asn448Ser	missense variant	-	NC_000012.12:g.72031565A>G	ExAC,TOPMed,gnomAD
rs759229053	p.Pro449Ser	missense variant	-	NC_000012.12:g.72031567C>T	ExAC,gnomAD
COSM6138129	p.Pro449Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031568C>T	NCI-TCGA Cosmic
rs1339161163	p.Pro449His	missense variant	-	NC_000012.12:g.72031568C>A	gnomAD
NCI-TCGA novel	p.Tyr450ThrPheSerTerUnk	frameshift	-	NC_000012.12:g.72031567C>-	NCI-TCGA
rs1201344273	p.Thr451Ile	missense variant	-	NC_000012.12:g.72031574C>T	gnomAD
rs1201344273	p.Thr451Lys	missense variant	-	NC_000012.12:g.72031574C>A	gnomAD
rs767755480	p.Gln452Leu	missense variant	-	NC_000012.12:g.72031577A>T	ExAC,gnomAD
rs761047269	p.Ser453Arg	missense variant	-	NC_000012.12:g.72031581T>G	ExAC,gnomAD
rs753131705	p.Ser453Asn	missense variant	-	NC_000012.12:g.72031580G>A	ExAC,TOPMed,gnomAD
rs1229381616	p.Ile454Thr	missense variant	-	NC_000012.12:g.72031583T>C	TOPMed
rs764667557	p.Glu455Gln	missense variant	-	NC_000012.12:g.72031585G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu455Lys	missense variant	-	NC_000012.12:g.72031585G>A	NCI-TCGA
rs757400375	p.Ser462Thr	missense variant	-	NC_000012.12:g.72031607G>C	ExAC,TOPMed,gnomAD
rs1406880601	p.Ser462Arg	missense variant	-	NC_000012.12:g.72031608T>A	TOPMed
rs757400375	p.Ser462Asn	missense variant	-	NC_000012.12:g.72031607G>A	ExAC,TOPMed,gnomAD
rs944461378	p.Ile463Thr	missense variant	-	NC_000012.12:g.72031610T>C	TOPMed,gnomAD
COSM273374	p.Val467Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031622T>C	NCI-TCGA Cosmic
rs1317926854	p.Gln468Arg	missense variant	-	NC_000012.12:g.72031625A>G	TOPMed
rs1422692580	p.Gln468Ter	stop gained	-	NC_000012.12:g.72031624C>T	gnomAD
rs150148746	p.Arg471Cys	missense variant	-	NC_000012.12:g.72031633C>T	ESP,ExAC,TOPMed,gnomAD
rs138642957	p.Arg471His	missense variant	-	NC_000012.12:g.72031634G>A	ESP,ExAC,TOPMed,gnomAD
rs147025898	p.Asp473Asn	missense variant	-	NC_000012.12:g.72031639G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199726216	p.Leu474Val	missense variant	-	NC_000012.12:g.72031642T>G	1000Genomes,gnomAD
rs1326282956	p.Asn475Asp	missense variant	-	NC_000012.12:g.72031645A>G	gnomAD
rs769557162	p.Thr476Ile	missense variant	-	NC_000012.12:g.72031649C>T	ExAC,gnomAD
rs769557162	p.Thr476Arg	missense variant	-	NC_000012.12:g.72031649C>G	ExAC,gnomAD
rs770400466	p.Val477Met	missense variant	-	NC_000012.12:g.72031651G>A	ExAC,gnomAD
rs773902443	p.Val477Ala	missense variant	-	NC_000012.12:g.72031652T>C	ExAC,gnomAD
rs913581943	p.Cys478Gly	missense variant	-	NC_000012.12:g.72031654T>G	TOPMed
rs759066473	p.Asp479Ala	missense variant	-	NC_000012.12:g.72031658A>C	ExAC,gnomAD
rs1466335309	p.Leu481Ser	missense variant	-	NC_000012.12:g.72031664T>C	gnomAD
rs886049817	p.Asn482Asp	missense variant	-	NC_000012.12:g.72031666A>G	-
RCV000364824	p.Asn482Asp	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.72031666A>G	ClinVar
NCI-TCGA novel	p.Lys483Thr	missense variant	-	NC_000012.12:g.72031670A>C	NCI-TCGA
rs1260976642	p.Met484Ile	missense variant	-	NC_000012.12:g.72031674G>T	gnomAD
rs771791547	p.Met484Thr	missense variant	-	NC_000012.12:g.72031673T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met484Ile	missense variant	-	NC_000012.12:g.72031674G>A	NCI-TCGA
rs545695435	p.Gln486Lys	missense variant	-	NC_000012.12:g.72031678C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777244923	p.Leu488Met	missense variant	-	NC_000012.12:g.72031684C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly489Trp	missense variant	-	NC_000012.12:g.72031687G>T	NCI-TCGA
rs762457808	p.Gly489Arg	missense variant	-	NC_000012.12:g.72031687G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001818	Agoraphobia	disease	BEFREE
C0001956	Alcohol Use Disorder	disease	BEFREE;PSYGENET
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0003125	Anorexia Nervosa	disease	BEFREE
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0004352	Autistic Disorder	group	BEFREE;CTD_human
C0004936	Mental disorders	group	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;LHGDN;PSYGENET
C0005587	Depression, Bipolar	disease	PSYGENET
C0006012	Borderline Personality Disorder	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0009087	Cluster C personality disorder	disease	BEFREE
C0009241	Cognition Disorders	group	BEFREE
C0011351	Dental Enamel Hypoplasia	disease	BEFREE
C0011570	Mental Depression	disease	BEFREE;PSYGENET
C0011573	Endogenous depression	disease	CTD_human;MGD
C0011574	Involutional Depression	disease	CTD_human
C0011581	Depressive disorder	disease	BEFREE;CTD_human;PSYGENET
C0011991	Diarrhea	phenotype	BEFREE
C0013146	Drug abuse	disease	BEFREE
C0013473	Eating Disorders	group	BEFREE
C0015672	Fatigue	phenotype	BEFREE
C0015674	Chronic Fatigue Syndrome	disease	BEFREE
C0015967	Fever	phenotype	CTD_human
C0018802	Congestive heart failure	disease	BEFREE
C0019337	Heroin Dependence	disease	BEFREE
C0022104	Irritable Bowel Syndrome	disease	BEFREE
C0024523	Malabsorption Syndrome	group	BEFREE
C0025193	Melancholia	disease	CTD_human
C0025517	Metabolic Diseases	group	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0026850	Muscular Dystrophy	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0028768	Obsessive-Compulsive Disorder	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0030319	Panic Disorder	disease	BEFREE;LHGDN
C0030567	Parkinson Disease	disease	BEFREE
C0031212	Personality Disorders	group	BEFREE
C0032962	Pregnancy Complications	group	BEFREE
C0033975	Psychotic Disorders	group	BEFREE;PSYGENET
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036349	Paranoid Schizophrenia	disease	BEFREE;PSYGENET
C0038436	Post-Traumatic Stress Disorder	disease	BEFREE
C0038441	Stress Disorders, Traumatic	group	BEFREE
C0038586	Substance Use Disorders	group	BEFREE;PSYGENET
C0038644	Sudden infant death syndrome	disease	LHGDN
C0040517	Gilles de la Tourette syndrome	disease	LHGDN
C0041671	Attention Deficit Disorder	disease	CTD_human
C0041696	Unipolar Depression	disease	BEFREE;CTD_human;MGD;PSYGENET
C0085159	Seasonal Affective Disorder	disease	BEFREE
C0085281	Addictive Behavior	phenotype	BEFREE
C0085633	Mood swings	disease	BEFREE
C0085762	Alcohol abuse	disease	BEFREE;PSYGENET
C0086132	Depressive Symptoms	phenotype	BEFREE
C0086133	Depressive Syndrome	disease	CTD_human
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE
C0232600	Self-induced vomiting	disease	BEFREE
C0233401	Psychiatric symptom	phenotype	BEFREE
C0233514	Abnormal behavior	phenotype	BEFREE
C0233523	Antisocial behavior	phenotype	BEFREE
C0239946	Fibrosis, Liver	disease	BEFREE
C0282126	Depression, Neurotic	disease	CTD_human
C0338480	Common Migraine	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0338908	Mixed anxiety and depressive disorder	disease	BEFREE
C0426980	Motor symptoms	phenotype	BEFREE
C0455829	Waist Circumference	phenotype	GWASDB
C0524620	Metabolic Syndrome X	disease	BEFREE
C0525041	Neurobehavioral Manifestations	group	BEFREE
C0525045	Mood Disorders	group	BEFREE;LHGDN;PSYGENET
C0564567	Impulsive character (finding)	phenotype	BEFREE
C0600427	Cocaine Dependence	disease	BEFREE;PSYGENET
C0677607	Hashimoto Disease	disease	BEFREE
C0677660	Emotional problems	phenotype	BEFREE
C0852733	Completed Suicide	phenotype	BEFREE
C0865424	Adult attention deficit hyperactivity disorder	disease	BEFREE
C1263846	Attention deficit hyperactivity disorder	disease	BEFREE;CTD_human
C1269683	Major Depressive Disorder	disease	BEFREE;CTD_human;PSYGENET
C1321905	Minimal Brain Dysfunction	disease	CTD_human
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1524032	Depression and Suicide	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1571983	Involutional paraphrenia	disease	CTD_human
C1571984	Psychosis, Involutional	disease	CTD_human
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
C1842981	NEUROTICISM	disease	BEFREE
C1852197	MAJOR AFFECTIVE DISORDER 1	disease	BEFREE
C1868649	PANIC DISORDER 1	disease	BEFREE
C1970943	MAJOR AFFECTIVE DISORDER 4	disease	BEFREE
C1970945	MAJOR AFFECTIVE DISORDER 6	disease	BEFREE
C2129214	Loose stool	phenotype	BEFREE
C2700438	MAJOR AFFECTIVE DISORDER 7	disease	BEFREE
C2700439	MAJOR AFFECTIVE DISORDER 8	disease	BEFREE
C2700440	MAJOR AFFECTIVE DISORDER 9	disease	BEFREE
C2751802	ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7	phenotype	CLINVAR;UNIPROT
C2939186	Disturbance in mood	disease	BEFREE
C3496069	cocaine use	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004510	tryptophan 5-monooxygenase activity	IBA
GO:0005506	iron ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007623	circadian rhythm	IEA
GO:0009072	aromatic amino acid family metabolic process	IEA
GO:0014823	response to activity	IEA
GO:0031667	response to nutrient levels	IEA
GO:0042427	serotonin biosynthetic process	IEA
GO:0043627	response to estrogen	IEA
GO:0046219	indolalkylamine biosynthetic process	TAS
GO:0051384	response to glucocorticoid	IEA
GO:0051592	response to calcium ion	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0071285	cellular response to lithium ion	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS
GO:0043005	neuron projection	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-209776	Metabolism of amine-derived hormones	TAS
R-HSA-209931	Serotonin and melatonin biosynthesis	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of TPH2 mRNA	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	[Caffeine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of TPH2 mRNA	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	Caffeine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of TPH2 mRNA]	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of TPH2 mRNA	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	Nicotine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of TPH2 mRNA]	20230807
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of TPH2 mRNA	31388691
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of TPH2 mRNA	22079614
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of TPH2 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of TPH2 mRNA	16483693
D000929	Antidepressive Agents, Tricyclic	Antidepressive Agents, Tricyclic results in increased expression of TPH2 mRNA	20374287
D001280	Atrazine	Atrazine results in decreased expression of TPH2 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of TPH2 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of TPH2 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TPH2 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TPH2 mRNA	26186136
C006780	bisphenol A	bisphenol A results in increased expression of TPH2 mRNA	23567477; 30951980;
C006780	bisphenol A	bisphenol A results in decreased expression of TPH2 mRNA	25181051; 26141625; 26186136;
C006780	bisphenol A	bisphenol A results in increased expression of TPH2 mRNA	24066056
C006780	bisphenol A	bisphenol A results in increased expression of TPH2 protein	24066056
C000611646	bisphenol F	bisphenol F results in increased expression of TPH2 mRNA	30951980
D002110	Caffeine	Caffeine results in increased expression of TPH2 mRNA	22449533
D002110	Caffeine	[Caffeine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of TPH2 mRNA	20230807
D002110	Caffeine	Caffeine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of TPH2 mRNA]	20230807
C492519	diarylpropionitrile	diarylpropionitrile inhibits the reaction [Estrogens deficiency results in decreased expression of TPH2 mRNA]	30565903
D004026	Dieldrin	Dieldrin results in decreased expression of TPH2 mRNA	23041725
D004958	Estradiol	[Estradiol co-treated with Fluoxetine] results in increased expression of TPH2 mRNA	21382399
D004958	Estradiol	Estradiol inhibits the reaction [Estrogens deficiency results in increased expression of TPH2 mRNA]	30565903
D004958	Estradiol	Estradiol inhibits the reaction [Estrogens deficiency results in increased expression of TPH2 protein]	30565903
D004958	Estradiol	Estradiol results in increased expression of TPH2 mRNA	21382399
D004967	Estrogens	diarylpropionitrile inhibits the reaction [Estrogens deficiency results in decreased expression of TPH2 mRNA]	30565903
D004967	Estrogens	Estradiol inhibits the reaction [Estrogens deficiency results in increased expression of TPH2 mRNA]	30565903
D004967	Estrogens	Estradiol inhibits the reaction [Estrogens deficiency results in increased expression of TPH2 protein]	30565903
D004967	Estrogens	Estrogens deficiency results in decreased expression of TPH2 mRNA	30565903
D004967	Estrogens	Estrogens deficiency results in decreased expression of TPH2 protein	30565903
D000431	Ethanol	Ethanol promotes the reaction [mephedrone results in decreased expression of TPH2 protein]	26747301
D000431	Ethanol	Ethanol results in decreased expression of TPH2 protein	26747301
D005473	Fluoxetine	TPH2 protein affects the susceptibility to Fluoxetine	16982082
D005473	Fluoxetine	Fluoxetine affects the expression of TPH2 mRNA	17321503
D005473	Fluoxetine	Fluoxetine results in increased expression of TPH2 mRNA	20374287
D005473	Fluoxetine	[Estradiol co-treated with Fluoxetine] results in increased expression of TPH2 mRNA	21382399
D005473	Fluoxetine	Fluoxetine affects the expression of TPH2 mRNA	17950541
D005473	Fluoxetine	Fluoxetine results in decreased expression of TPH2 mRNA	16982082; 21740920;
D005473	Fluoxetine	Fluoxetine results in increased expression of TPH2 mRNA	11901216
D005473	Fluoxetine	TPH2 results in increased susceptibility to Fluoxetine	17950541
D005492	Folic Acid	Folic Acid results in increased expression of TPH2 mRNA	25006883
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of TPH2 mRNA	19840776
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of TPH2 protein	19840776
D008550	Melatonin	TPH2 protein affects the chemical synthesis of Melatonin	15281067
C548233	mephedrone	Ethanol promotes the reaction [mephedrone results in decreased expression of TPH2 protein]	26747301
C548233	mephedrone	mephedrone results in decreased expression of TPH2 protein	26747301
C548233	mephedrone	mephedrone results in decreased expression of TPH2 protein	25817894
D008694	Methamphetamine	TPH2 protein affects the susceptibility to Methamphetamine	20722968
D008701	Methapyrilene	Methapyrilene results in increased methylation of TPH2 intron	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of TPH2 mRNA	26011545
C063509	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Sertraline results in increased expression of TPH2 mRNA]	11901216
D009538	Nicotine	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of TPH2 mRNA	20230807
D009538	Nicotine	Nicotine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of TPH2 mRNA]	20230807
C025589	ochratoxin A	ochratoxin A results in increased expression of TPH2 mRNA	27346841
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in decreased expression of TPH2 mRNA	27001416
C033205	propamocarb	propamocarb results in decreased expression of TPH2 mRNA	30251769
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of TPH2 mRNA	24780913; 25825206;
D012701	Serotonin	TPH2 protein affects the abundance of Serotonin	20722968
D020280	Sertraline	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [Sertraline results in increased expression of TPH2 mRNA]	11901216
D020280	Sertraline	Sertraline results in increased activity of TPH2 protein	11901216
D020280	Sertraline	Sertraline results in increased expression of TPH2 mRNA	11901216
D020280	Sertraline	Sertraline results in increased expression of TPH2 protein	11901216
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of TPH2 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0408	Iron
KW-0479	Metal-binding
KW-0503	Monooxygenase
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0691	RNA editing
KW-0724	Serotonin biosynthesis

Interpro

InterPro ID	InterPro Term
IPR002912	ACT_dom
IPR001273	ArAA_hydroxylase
IPR018301	ArAA_hydroxylase_Fe/CU_BS
IPR036951	ArAA_hydroxylase_sf
IPR036329	Aro-AA_hydroxylase_C_sf
IPR019774	Aromatic-AA_hydroxylase_C
IPR005963	Trp_5_mOase
IPR041904	TrpOH_cat
IPR019773	Tyrosine_3-monooxygenase-like

PROSITE

PROSITE ID	PROSITE Term
PS51671	ACT
PS00367	BH4_AAA_HYDROXYL_1
PS51410	BH4_AAA_HYDROXYL_2

Pfam

Pfam ID	Pfam Term
PF00351	Biopterin_H

Gene: TPH2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction