CleftGeneDB-Search

Gene: PHYH

Basic information

Tag	Content
Uniprot ID	O14832; A8MTS8; B1ALH5;
Entrez ID	5264
Genbank protein ID	AAF74123.1; AAD20602.1; AAH29512.1; AAB81834.1;
Genbank nucleotide ID	NM_001037537.1; NM_006214.3; NM_001323080.1;
Ensembl protein ID	ENSP00000263038; ENSP00000380121;
Ensembl nucleotide ID	ENSG00000107537
Gene name	Phytanoyl-CoA dioxygenase, peroxisomal
Gene symbol	PHYH
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	27229527
Functional description	Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223).
Sequence	MEQLRAAARL QIVLGHLGRP SAGAVVAHPT SGTISSASFH PQQFQYTLDN NVLTLEQRKF 60 YEENGFLVIK NLVPDADIQR FRNEFEKICR KEVKPLGLTV MRDVTISKSE YAPSEKMITK 120 VQDFQEDKEL FRYCTLPEIL KYVECFTGPN IMAMHTMLIN KPPDSGKKTS RHPLHQDLHY 180 FPFRPSDLIV CAWTAMEHIS RNNGCLVVLP GTHKGSLKPH DYPKWEGGVN KMFHGIQDYE 240 ENKARVHLVM EKGDTVFFHP LLIHGSGQNK TQGFRKAISC HFASADCHYI DVKGTSQENI 300 EKEVVGIAHK FFGAENSVNL KDIWMFRARL VKGERTNL 338

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
2A1X

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	PHYH	281400	O18778	Bos taurus	Prediction	More>>
1:1 ortholog	PHYH	102179212	A0A452FPA5	Capra hircus	Prediction	More>>
1:1 ortholog	PHYH	5264	O14832	Homo sapiens	Publication	More>>
1:1 ortholog	Phyh	16922	O35386	Mus musculus	Prediction	More>>
1:1 ortholog	PHYH	450310	H2Q1M5	Pan troglodytes	Prediction	More>>
1:1 ortholog	PHYH		A0A286ZZ49	Sus scrofa	Prediction	More>>
1:1 ortholog	Phyh	114209	P57093	Rattus norvegicus	Prediction	More>>
1:1 ortholog	phyh		E7FCS1	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PHYH	rs145404396G>C; p.Arg82Gly	WES and Sanger sequencing	27229527
PHYH	rs62619919C>T; p.Arg245Gln	WES and Sanger sequencing	27229527
PHYH	rs566116760A>AG/AT; p.Asn337_Leu338insHis	WES and Sanger sequencing	27229527

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1040127062	p.Glu2Gly	missense variant	-	NC_000010.11:g.13300038T>C	TOPMed,gnomAD
rs1040127062	p.Glu2Val	missense variant	-	NC_000010.11:g.13300038T>A	TOPMed,gnomAD
rs1156869662	p.Glu2Asp	missense variant	-	NC_000010.11:g.13300037C>A	TOPMed,gnomAD
rs1452997131	p.Gln3Arg	missense variant	-	NC_000010.11:g.13300035T>C	gnomAD
rs1364275922	p.Ala6Thr	missense variant	-	NC_000010.11:g.13300027C>T	gnomAD
rs1183779938	p.Ala8Ser	missense variant	-	NC_000010.11:g.13300021C>A	gnomAD
rs1196837590	p.Arg9Gly	missense variant	-	NC_000010.11:g.13300018G>C	TOPMed
rs1438079670	p.Leu10Gln	missense variant	-	NC_000010.11:g.13300014A>T	TOPMed
rs1361950127	p.Val13Phe	missense variant	-	NC_000010.11:g.13300006C>A	gnomAD
rs1220122195	p.Val13Asp	missense variant	-	NC_000010.11:g.13300005A>T	TOPMed
rs945890557	p.Arg19Cys	missense variant	-	NC_000010.11:g.13299988G>A	TOPMed,gnomAD
rs945890557	p.Arg19Gly	missense variant	-	NC_000010.11:g.13299988G>C	TOPMed,gnomAD
rs913080422	p.Pro20Leu	missense variant	-	NC_000010.11:g.13299984G>A	TOPMed
rs1199703535	p.Ser21Trp	missense variant	-	NC_000010.11:g.13299981G>C	TOPMed,gnomAD
rs1260436434	p.Gly23Glu	missense variant	-	NC_000010.11:g.13299975C>T	TOPMed,gnomAD
rs750212437	p.Gly23Arg	missense variant	-	NC_000010.11:g.13299976C>G	ExAC,gnomAD
rs781426377	p.Ala24Thr	missense variant	-	NC_000010.11:g.13299973C>T	ExAC,TOPMed,gnomAD
rs781426377	p.Ala24Ser	missense variant	-	NC_000010.11:g.13299973C>A	ExAC,TOPMed,gnomAD
rs1261804897	p.Val25Ile	missense variant	-	NC_000010.11:g.13299970C>T	gnomAD
rs778011598	p.His28Arg	missense variant	-	NC_000010.11:g.13298238T>C	ExAC,gnomAD
NCI-TCGA novel	p.His28Leu	missense variant	-	NC_000010.11:g.13298238T>A	NCI-TCGA
rs28938169	p.Pro29Ser	missense variant	-	NC_000010.11:g.13298236G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000306854	p.Pro29Ser	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13298236G>A	ClinVar
rs752742972	p.Ser31Leu	missense variant	-	NC_000010.11:g.13298229G>A	ExAC,gnomAD
rs752742972	p.Ser31Ter	stop gained	-	NC_000010.11:g.13298229G>T	ExAC,gnomAD
rs1193207427	p.Ile34Thr	missense variant	-	NC_000010.11:g.13298220A>G	TOPMed
rs1014615805	p.Ala37Asp	missense variant	-	NC_000010.11:g.13298211G>T	gnomAD
rs1272031469	p.Ser38Gly	missense variant	-	NC_000010.11:g.13298209T>C	gnomAD
rs1425939786	p.Ser38Asn	missense variant	-	NC_000010.11:g.13298208C>T	TOPMed
rs759970314	p.Gln42Ter	stop gained	-	NC_000010.11:g.13298197G>A	ExAC,TOPMed,gnomAD
rs371465545	p.Gln42Arg	missense variant	-	NC_000010.11:g.13298196T>C	ESP,ExAC,TOPMed,gnomAD
rs759970314	p.Gln42Glu	missense variant	-	NC_000010.11:g.13298197G>C	ExAC,TOPMed,gnomAD
rs1454438150	p.Gln43Ter	stop gained	-	NC_000010.11:g.13298194G>A	gnomAD
rs1397853687	p.Phe44Leu	missense variant	-	NC_000010.11:g.13298189G>T	gnomAD
rs1384315216	p.Gln45Ter	stop gained	-	NC_000010.11:g.13298188G>A	TOPMed,gnomAD
rs141952441	p.Tyr46Cys	missense variant	-	NC_000010.11:g.13295604T>C	ESP,TOPMed
rs1234884054	p.Thr47Pro	missense variant	-	NC_000010.11:g.13295602T>G	gnomAD
rs754281074	p.Thr47Ile	missense variant	-	NC_000010.11:g.13295601G>A	ExAC,TOPMed,gnomAD
rs1269727332	p.Asn50Ser	missense variant	-	NC_000010.11:g.13295592T>C	gnomAD
rs767030794	p.Asn50Asp	missense variant	-	NC_000010.11:g.13295593T>C	ExAC,TOPMed,gnomAD
rs756504018	p.Asn51His	missense variant	-	NC_000010.11:g.13295590T>G	ExAC,gnomAD
rs1283450349	p.Val52Ile	missense variant	-	NC_000010.11:g.13295587C>T	TOPMed,gnomAD
rs775279867	p.Thr54Asn	missense variant	-	NC_000010.11:g.13295580G>T	ExAC,TOPMed,gnomAD
rs775279867	p.Thr54Ile	missense variant	-	NC_000010.11:g.13295580G>A	ExAC,TOPMed,gnomAD
RCV000008021	p.Leu55Ter	frameshift	Refsum disease, adult, 1	NC_000010.11:g.13295577del	ClinVar
rs764637574	p.Arg58Ile	missense variant	-	NC_000010.11:g.13295568C>A	ExAC,gnomAD
rs886046831	p.Lys59Thr	missense variant	-	NC_000010.11:g.13295565T>G	-
NCI-TCGA novel	p.Lys59Asn	missense variant	-	NC_000010.11:g.13295564T>G	NCI-TCGA
RCV000386294	p.Lys59Thr	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13295565T>G	ClinVar
rs1340452968	p.Phe60Leu	missense variant	-	NC_000010.11:g.13295563A>G	gnomAD
rs759133541	p.Phe60Cys	missense variant	-	NC_000010.11:g.13295562A>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe60Ser	missense variant	-	NC_000010.11:g.13295562A>G	NCI-TCGA
rs1344010115	p.Gly65Arg	missense variant	-	NC_000010.11:g.13295548C>T	gnomAD
COSM6128634	p.Val68Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13295539C>G	NCI-TCGA Cosmic
rs746748064	p.Val68Glu	missense variant	-	NC_000010.11:g.13295538A>T	ExAC,gnomAD
rs143820757	p.Ile69Thr	missense variant	-	NC_000010.11:g.13295535A>G	ESP,ExAC,TOPMed,gnomAD
RCV000153696	p.Ile69Thr	missense variant	-	NC_000010.11:g.13295535A>G	ClinVar
NCI-TCGA novel	p.Leu72Ile	missense variant	-	NC_000010.11:g.13295527G>T	NCI-TCGA
COSM4012730	p.Leu72Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13295526A>G	NCI-TCGA Cosmic
rs771973307	p.Leu72Phe	missense variant	-	NC_000010.11:g.13295527G>A	ExAC,gnomAD
rs1480253198	p.Val73Ala	missense variant	-	NC_000010.11:g.13295523A>G	gnomAD
rs1430210913	p.Pro74Thr	missense variant	-	NC_000010.11:g.13295521G>T	gnomAD
rs141855372	p.Ala76Val	missense variant	-	NC_000010.11:g.13295514G>A	ESP,ExAC,TOPMed,gnomAD
rs180913758	p.Asp77Asn	missense variant	-	NC_000010.11:g.13295512C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1554785113	p.Gln79Ter	stop gained	-	NC_000010.11:g.13295506G>A	-
RCV000592550	p.Gln79Ter	nonsense	-	NC_000010.11:g.13295506G>A	ClinVar
rs756698271	p.Arg80His	missense variant	-	NC_000010.11:g.13295502C>T	ExAC,TOPMed,gnomAD
rs369205198	p.Arg80Cys	missense variant	-	NC_000010.11:g.13295503G>A	ESP,ExAC,TOPMed,gnomAD
rs145404396	p.Arg82Gly	missense variant	-	NC_000010.11:g.13295497G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145404396	p.Arg82Trp	missense variant	-	NC_000010.11:g.13295497G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs886046830	p.Arg82Gln	missense variant	-	NC_000010.11:g.13295496C>T	-
RCV000352671	p.Arg82Gln	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13295496C>T	ClinVar
RCV000755126	p.Arg82Gly	missense variant	Nonsyndromic cleft lip palate	NC_000010.11:g.13295497G>C	ClinVar
VAR_018619	p.Asn83Tyr	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
rs1171283470	p.Glu84Lys	missense variant	-	NC_000010.11:g.13294592C>T	gnomAD
rs1431689348	p.Phe85Ser	missense variant	-	NC_000010.11:g.13294588A>G	gnomAD
COSM5218172	p.Ile88AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13294579_13294580insT	NCI-TCGA Cosmic
rs1218295820	p.Cys89Phe	missense variant	-	NC_000010.11:g.13294576C>A	TOPMed
rs1182917798	p.Lys91Arg	missense variant	-	NC_000010.11:g.13294570T>C	gnomAD
rs781746206	p.Glu92Val	missense variant	-	NC_000010.11:g.13294567T>A	ExAC,gnomAD
rs751977380	p.Pro95Ser	missense variant	-	NC_000010.11:g.13294559G>A	ExAC
rs375508574	p.Gly97Glu	missense variant	-	NC_000010.11:g.13294552C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr99Pro	missense variant	-	NC_000010.11:g.13294547T>G	NCI-TCGA
rs753555104	p.Val100Leu	missense variant	-	NC_000010.11:g.13294544C>A	ExAC,TOPMed,gnomAD
rs753555104	p.Val100Ile	missense variant	-	NC_000010.11:g.13294544C>T	ExAC,TOPMed,gnomAD
rs765864318	p.Met101Ile	missense variant	-	NC_000010.11:g.13294539C>T	ExAC,gnomAD
rs765864318	p.Met101Ile	missense variant	-	NC_000010.11:g.13294539C>A	ExAC,gnomAD
rs1290322799	p.Arg102Lys	missense variant	-	NC_000010.11:g.13294537C>T	TOPMed,gnomAD
rs1290322799	p.Arg102Thr	missense variant	-	NC_000010.11:g.13294537C>G	TOPMed,gnomAD
rs1360740831	p.Val104Ala	missense variant	-	NC_000010.11:g.13294531A>G	gnomAD
rs1460092273	p.Ile106Leu	missense variant	-	NC_000010.11:g.13294526T>G	gnomAD
rs750331730	p.Ile106Thr	missense variant	-	NC_000010.11:g.13294525A>G	ExAC,gnomAD
rs1298954728	p.Ser107Leu	missense variant	-	NC_000010.11:g.13294522G>A	TOPMed,gnomAD
rs768690285	p.Glu110Lys	missense variant	-	NC_000010.11:g.13294514C>T	ExAC,gnomAD
rs775912561	p.Ala112Pro	missense variant	-	NC_000010.11:g.13294508C>G	ExAC,gnomAD
rs1156732460	p.Ala112Val	missense variant	-	NC_000010.11:g.13294507G>A	gnomAD
rs745983440	p.Pro113Leu	missense variant	-	NC_000010.11:g.13294504G>A	ExAC,TOPMed,gnomAD
rs781504804	p.Ser114Asn	missense variant	-	NC_000010.11:g.13294501C>T	ExAC,gnomAD
rs771484754	p.Ser114Arg	missense variant	-	NC_000010.11:g.13294500A>C	ExAC,gnomAD
rs747271385	p.Glu115Lys	missense variant	-	NC_000010.11:g.13294499C>T	ExAC,gnomAD
rs778195858	p.Met117Leu	missense variant	-	NC_000010.11:g.13294493T>A	ExAC,gnomAD
COSM4012729	p.Met117Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13294491C>A	NCI-TCGA Cosmic
rs779724199	p.Ile118Met	missense variant	-	NC_000010.11:g.13294488G>C	ExAC,TOPMed,gnomAD
rs1032242814	p.Ile118Thr	missense variant	-	NC_000010.11:g.13294489A>G	TOPMed
rs758824248	p.Ile118Phe	missense variant	-	NC_000010.11:g.13294490T>A	ExAC,gnomAD
RCV000494522	p.Ile118Met	missense variant	-	NC_000010.11:g.13294488G>C	ClinVar
rs34571629	p.Thr119Met	missense variant	-	NC_000010.11:g.13294486G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000319288	p.Thr119Met	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13294486G>A	ClinVar
rs373346799	p.Lys120Asn	missense variant	-	NC_000010.11:g.13294482C>A	ExAC,TOPMed,gnomAD
rs563490832	p.Val121Ile	missense variant	-	NC_000010.11:g.13294481C>T	1000Genomes
NCI-TCGA novel	p.Phe124Ile	missense variant	-	NC_000010.11:g.13294472A>T	NCI-TCGA
rs150001161	p.Glu126Gln	missense variant	-	NC_000010.11:g.13294466C>G	ESP,TOPMed,gnomAD
rs1272687602	p.Asp127Gly	missense variant	-	NC_000010.11:g.13294462T>C	TOPMed
rs761810966	p.Glu129Lys	missense variant	-	NC_000010.11:g.13294457C>T	ExAC,gnomAD
rs751515293	p.Leu130Phe	missense variant	-	NC_000010.11:g.13294454G>A	ExAC,TOPMed,gnomAD
rs751515293	p.Leu130Ile	missense variant	-	NC_000010.11:g.13294454G>T	ExAC,TOPMed,gnomAD
rs1452889366	p.Phe131Val	missense variant	-	NC_000010.11:g.13294451A>C	TOPMed,gnomAD
COSM4012728	p.Tyr133Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13294443G>T	NCI-TCGA Cosmic
rs1161050068	p.Tyr133Ser	missense variant	-	NC_000010.11:g.13294444T>G	gnomAD
rs367762012	p.Tyr133His	missense variant	-	NC_000010.11:g.13294445A>G	ESP,ExAC,TOPMed,gnomAD
rs775822544	p.Cys134Arg	missense variant	-	NC_000010.11:g.13294442A>G	ExAC,gnomAD
rs770170910	p.Thr135Ser	missense variant	-	NC_000010.11:g.13294438G>C	ExAC,gnomAD
rs1250910502	p.Leu136Val	missense variant	-	NC_000010.11:g.13294436G>C	TOPMed
COSM3435748	p.Pro137Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13294432G>A	NCI-TCGA Cosmic
rs938466163	p.Glu138Lys	missense variant	-	NC_000010.11:g.13294430C>T	gnomAD
COSM1346840	p.Glu138ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13294430_13294431insG	NCI-TCGA Cosmic
rs773734063	p.Lys141Glu	missense variant	-	NC_000010.11:g.13291906T>C	ExAC
rs772592954	p.Glu144Gly	missense variant	-	NC_000010.11:g.13291896T>C	ExAC,TOPMed,gnomAD
rs748450500	p.Thr147Ile	missense variant	-	NC_000010.11:g.13291887G>A	ExAC,TOPMed,gnomAD
rs1450273769	p.Thr147Ala	missense variant	-	NC_000010.11:g.13291888T>C	gnomAD
rs1392704631	p.Gly148Ala	missense variant	-	NC_000010.11:g.13291884C>G	gnomAD
rs1337094816	p.Asn150Ser	missense variant	-	NC_000010.11:g.13291878T>C	gnomAD
rs1415852980	p.Met152Val	missense variant	-	NC_000010.11:g.13291873T>C	TOPMed,gnomAD
rs774698527	p.Ala153Thr	missense variant	-	NC_000010.11:g.13291870C>T	ExAC,gnomAD
rs959579723	p.Met154Val	missense variant	-	NC_000010.11:g.13291867T>C	TOPMed
NCI-TCGA novel	p.His155Tyr	missense variant	-	NC_000010.11:g.13291864G>A	NCI-TCGA
rs1440122060	p.Thr156Ile	missense variant	-	NC_000010.11:g.13291860G>A	TOPMed
rs769073461	p.Met157Ile	missense variant	-	NC_000010.11:g.13291856C>T	ExAC,TOPMed,gnomAD
rs150982538	p.Ile159Thr	missense variant	-	NC_000010.11:g.13291851A>G	ESP,ExAC,gnomAD
rs374704226	p.Pro163Ser	missense variant	-	NC_000010.11:g.13291840G>A	ESP,ExAC,TOPMed,gnomAD
rs1313171172	p.Lys167Glu	missense variant	-	NC_000010.11:g.13288539T>C	gnomAD
rs1002598201	p.Thr169Met	missense variant	-	NC_000010.11:g.13288532G>A	TOPMed
rs1247299635	p.Arg171Cys	missense variant	-	NC_000010.11:g.13288527G>A	TOPMed,gnomAD
rs1247299635	p.Arg171Ser	missense variant	-	NC_000010.11:g.13288527G>T	TOPMed,gnomAD
rs752028596	p.Arg171Pro	missense variant	-	NC_000010.11:g.13288526C>G	ExAC,gnomAD
rs752028596	p.Arg171His	missense variant	-	NC_000010.11:g.13288526C>T	ExAC,gnomAD
VAR_017483	p.Pro173Ser	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
rs1430438246	p.His175Gln	missense variant	-	NC_000010.11:g.13288513G>T	TOPMed
VAR_018631	p.His175Arg	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
rs775730332	p.Gln176Arg	missense variant	-	NC_000010.11:g.13288511T>C	ExAC,TOPMed,gnomAD
rs28939672	p.Gln176Lys	missense variant	Refsum disease (RD)	NC_000010.11:g.13288512G>T	UniProt,dbSNP
VAR_017484	p.Gln176Lys	missense variant	Refsum disease (RD)	NC_000010.11:g.13288512G>T	UniProt
rs28939672	p.Gln176Lys	missense variant	-	NC_000010.11:g.13288512G>T	TOPMed
rs28939672	p.Gln176Ter	stop gained	-	NC_000010.11:g.13288512G>A	TOPMed
RCV000008024	p.Gln176Lys	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13288512G>T	ClinVar
rs770262329	p.Asp177Gly	missense variant	-	NC_000010.11:g.13288508T>C	ExAC,TOPMed,gnomAD
rs770262329	p.Asp177Gly	missense variant	Refsum disease (RD)	NC_000010.11:g.13288508T>C	UniProt,dbSNP
VAR_017485	p.Asp177Gly	missense variant	Refsum disease (RD)	NC_000010.11:g.13288508T>C	UniProt
rs1419027168	p.His179Asn	missense variant	-	NC_000010.11:g.13288503G>T	gnomAD
rs1280965525	p.Tyr180Ser	missense variant	-	NC_000010.11:g.13288499T>G	gnomAD
rs773050136	p.Pro182Ala	missense variant	-	NC_000010.11:g.13288494G>C	ExAC,TOPMed,gnomAD
rs773050136	p.Pro182Ser	missense variant	-	NC_000010.11:g.13288494G>A	ExAC,TOPMed,gnomAD
rs771679396	p.Pro182Leu	missense variant	-	NC_000010.11:g.13288493G>A	ExAC,TOPMed,gnomAD
rs139392108	p.Phe183Ser	missense variant	-	NC_000010.11:g.13288490A>G	ESP,ExAC,TOPMed,gnomAD
rs768495897	p.Pro185Thr	missense variant	-	NC_000010.11:g.13288485G>T	ExAC,gnomAD
rs201383447	p.Ser186Arg	missense variant	-	NC_000010.11:g.13288480G>T	ExAC,gnomAD
rs749048954	p.Ser186Asn	missense variant	-	NC_000010.11:g.13288481C>T	ExAC,gnomAD
rs755990885	p.Asp187Asn	missense variant	-	NC_000010.11:g.13288479C>T	ExAC,TOPMed,gnomAD
rs563392018	p.Ile189Met	missense variant	-	NC_000010.11:g.13288471G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1227427780	p.Ile189Phe	missense variant	-	NC_000010.11:g.13288473T>A	TOPMed
rs146190978	p.Val190Ile	missense variant	-	NC_000010.11:g.13288470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1054747084	p.Cys191Trp	missense variant	-	NC_000010.11:g.13288465G>C	TOPMed,gnomAD
rs751660253	p.Ala192Ser	missense variant	-	NC_000010.11:g.13288464C>A	ExAC,TOPMed,gnomAD
rs751660253	p.Ala192Thr	missense variant	-	NC_000010.11:g.13288464C>T	ExAC,TOPMed,gnomAD
RCV000377458	p.Ala192Thr	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288464C>T	ClinVar
RCV000483319	p.Ala192Thr	missense variant	-	NC_000010.11:g.13288464C>T	ClinVar
VAR_012980	p.Ala192insAlaAla	duplication	Refsum disease (RD) [MIM:266500]	-	UniProt
rs1448778830	p.Trp193Ter	stop gained	-	NC_000010.11:g.13288460C>T	gnomAD
VAR_017486	p.Trp193Arg	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
rs141554572	p.Thr194Lys	missense variant	-	NC_000010.11:g.13288457G>T	ESP,ExAC,TOPMed,gnomAD
rs141554572	p.Thr194Met	missense variant	-	NC_000010.11:g.13288457G>A	ESP,ExAC,TOPMed,gnomAD
RCV000320474	p.Thr194Met	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288457G>A	ClinVar
rs765498995	p.Ala195Val	missense variant	-	NC_000010.11:g.13288454G>A	ExAC,gnomAD
rs760020856	p.Met196Val	missense variant	-	NC_000010.11:g.13288452T>C	ExAC,gnomAD
rs760020856	p.Met196Leu	missense variant	-	NC_000010.11:g.13288452T>A	ExAC,gnomAD
rs772962267	p.Glu197Ala	missense variant	-	NC_000010.11:g.13288448T>G	ExAC,gnomAD
rs200311519	p.Glu197Lys	missense variant	-	NC_000010.11:g.13288449C>T	gnomAD
VAR_017487	p.Glu197Gln	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
rs1212274264	p.His198Asn	missense variant	-	NC_000010.11:g.13288446G>T	gnomAD
rs1407156746	p.Ile199Met	missense variant	-	NC_000010.11:g.13288441G>C	TOPMed
VAR_017488	p.Ile199Phe	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
rs148602565	p.Ser200Ile	missense variant	-	NC_000010.11:g.13288439C>A	ESP,ExAC,TOPMed,gnomAD
COSM683983	p.Ser200Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13288438G>T	NCI-TCGA Cosmic
rs148602565	p.Ser200Asn	missense variant	-	NC_000010.11:g.13288439C>T	ESP,ExAC,TOPMed,gnomAD
rs148602565	p.Ser200Thr	missense variant	-	NC_000010.11:g.13288439C>G	ESP,ExAC,TOPMed,gnomAD
rs143957922	p.Arg201Trp	missense variant	-	NC_000010.11:g.13288437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1436380043	p.Arg201Leu	missense variant	-	NC_000010.11:g.13288436C>A	TOPMed,gnomAD
rs1436380043	p.Arg201Pro	missense variant	-	NC_000010.11:g.13288436C>G	TOPMed,gnomAD
rs143957922	p.Arg201Gly	missense variant	-	NC_000010.11:g.13288437G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1436380043	p.Arg201Gln	missense variant	-	NC_000010.11:g.13288436C>T	TOPMed,gnomAD
RCV000267540	p.Arg201Gly	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288437G>C	ClinVar
RCV000487565	p.Arg201Gly	missense variant	-	NC_000010.11:g.13288437G>C	ClinVar
rs201979258	p.Asn202Lys	missense variant	-	NC_000010.11:g.13288432G>T	ExAC,TOPMed,gnomAD
RCV000359852	p.Asn202Lys	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288432G>T	ClinVar
RCV000430932	p.Asn202Lys	missense variant	-	NC_000010.11:g.13288432G>T	ClinVar
rs775543889	p.Asn203Lys	missense variant	-	NC_000010.11:g.13288429G>C	ExAC,TOPMed,gnomAD
rs104894173	p.Gly204Ser	missense variant	-	NC_000010.11:g.13288428C>T	ExAC
rs104894173	p.Gly204Ser	missense variant	Refsum disease (RD)	NC_000010.11:g.13288428C>T	UniProt,dbSNP
VAR_017489	p.Gly204Ser	missense variant	Refsum disease (RD)	NC_000010.11:g.13288428C>T	UniProt
RCV000008025	p.Gly204Ser	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13288428C>T	ClinVar
rs373046465	p.Cys205Tyr	missense variant	-	NC_000010.11:g.13288424C>T	ESP,ExAC,gnomAD
rs555663097	p.Val207Ile	missense variant	-	NC_000010.11:g.13288419C>T	1000Genomes,ExAC,gnomAD
rs1389557837	p.Leu209Arg	missense variant	-	NC_000010.11:g.13288412A>C	gnomAD
rs747023529	p.Gly211Asp	missense variant	-	NC_000010.11:g.13288406C>T	ExAC,gnomAD
rs758554958	p.His213Arg	missense variant	-	NC_000010.11:g.13288400T>C	ExAC,gnomAD
rs753115080	p.Lys214Glu	missense variant	-	NC_000010.11:g.13288398T>C	ExAC,TOPMed,gnomAD
rs7901902	p.Gly215Ser	missense variant	-	NC_000010.11:g.13288395C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000268787	p.Gly215Ser	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288395C>T	ClinVar
rs200627042	p.Leu217Val	missense variant	-	NC_000010.11:g.13288389G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs767216891	p.His220Tyr	missense variant	-	NC_000010.11:g.13288380G>A	ExAC,TOPMed,gnomAD
rs767216891	p.His220Tyr	missense variant	Refsum disease (RD)	NC_000010.11:g.13288380G>A	UniProt,dbSNP
VAR_017490	p.His220Tyr	missense variant	Refsum disease (RD)	NC_000010.11:g.13288380G>A	UniProt
rs774107404	p.His220Gln	missense variant	-	NC_000010.11:g.13288378G>T	ExAC,gnomAD
rs763486532	p.Asp221Asn	missense variant	-	NC_000010.11:g.13288377C>T	ExAC,gnomAD
rs1380248613	p.Pro223Arg	missense variant	-	NC_000010.11:g.13288370G>C	gnomAD
rs997483861	p.Lys224Thr	missense variant	-	NC_000010.11:g.13288367T>G	TOPMed,gnomAD
rs997483861	p.Lys224Arg	missense variant	-	NC_000010.11:g.13288367T>C	TOPMed,gnomAD
rs201936962	p.Gly227Trp	missense variant	-	NC_000010.11:g.13283839C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs995220629	p.Gly227Ala	missense variant	-	NC_000010.11:g.13283838C>G	gnomAD
rs201936962	p.Gly227Arg	missense variant	-	NC_000010.11:g.13283839C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201936962	p.Gly227Arg	missense variant	-	NC_000010.11:g.13283839C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs995220629	p.Gly227Glu	missense variant	-	NC_000010.11:g.13283838C>T	gnomAD
rs768919554	p.Gly228Ala	missense variant	-	NC_000010.11:g.13283835C>G	ExAC,TOPMed,gnomAD
COSM1346839	p.Gly228GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13283835C>-	NCI-TCGA Cosmic
COSM3435745	p.Gly228Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283836C>T	NCI-TCGA Cosmic
rs768919554	p.Gly228Val	missense variant	-	NC_000010.11:g.13283835C>A	ExAC,TOPMed,gnomAD
rs768919554	p.Gly228Glu	missense variant	-	NC_000010.11:g.13283835C>T	ExAC,TOPMed,gnomAD
rs767403321	p.Val229SerPheSerTerUnk	frameshift	-	NC_000010.11:g.13283834_13283835insC	NCI-TCGA
NCI-TCGA novel	p.Asn230Lys	missense variant	-	NC_000010.11:g.13283828G>T	NCI-TCGA
NCI-TCGA novel	p.Lys231Thr	missense variant	-	NC_000010.11:g.13283826T>G	NCI-TCGA
rs749786269	p.Lys231Arg	missense variant	-	NC_000010.11:g.13283826T>C	ExAC,gnomAD
rs1223347540	p.Met232Thr	missense variant	-	NC_000010.11:g.13283823A>G	gnomAD
rs780743090	p.His234Tyr	missense variant	-	NC_000010.11:g.13283818G>A	ExAC,gnomAD
rs750819521	p.Gly235Arg	missense variant	-	NC_000010.11:g.13283815C>T	ExAC,gnomAD
RCV000778275	p.Gly235Arg	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283815C>T	ClinVar
NCI-TCGA novel	p.Gly235Arg	missense variant	-	NC_000010.11:g.13283815C>G	NCI-TCGA
COSM916258	p.Gly235Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283814C>A	NCI-TCGA Cosmic
rs1296265643	p.Asp238Asn	missense variant	-	NC_000010.11:g.13283806C>T	gnomAD
rs752334658	p.Tyr239Cys	missense variant	-	NC_000010.11:g.13283802T>C	gnomAD
rs947818030	p.Glu240Gly	missense variant	-	NC_000010.11:g.13283799T>C	TOPMed,gnomAD
rs373512465	p.Glu240Lys	missense variant	-	NC_000010.11:g.13283800C>T	ESP,ExAC,TOPMed,gnomAD
rs764704942	p.Glu241Gly	missense variant	-	NC_000010.11:g.13283796T>C	ExAC,TOPMed,gnomAD
rs752358705	p.Glu241Lys	missense variant	-	NC_000010.11:g.13283797C>T	ExAC,TOPMed,gnomAD
rs759088006	p.Ala244Asp	missense variant	-	NC_000010.11:g.13283787G>T	ExAC,TOPMed,gnomAD
rs759088006	p.Ala244Gly	missense variant	-	NC_000010.11:g.13283787G>C	ExAC,TOPMed,gnomAD
RCV000665931	p.Arg245Gln	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283784C>T	ClinVar
rs62619919	p.Arg245Gln	missense variant	-	NC_000010.11:g.13283784C>T	UniProt,dbSNP
VAR_017491	p.Arg245Gln	missense variant	-	NC_000010.11:g.13283784C>T	UniProt
rs62619919	p.Arg245Gln	missense variant	-	NC_000010.11:g.13283784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753737115	p.Arg245Trp	missense variant	-	NC_000010.11:g.13283785G>A	ExAC,TOPMed,gnomAD
rs1435043757	p.Val246Gly	missense variant	-	NC_000010.11:g.13283781A>C	gnomAD
NCI-TCGA novel	p.His247Asp	missense variant	-	NC_000010.11:g.13283779G>C	NCI-TCGA
COSM465443	p.His247Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283777G>T	NCI-TCGA Cosmic
rs951944471	p.His247Arg	missense variant	-	NC_000010.11:g.13283778T>C	TOPMed
rs760332267	p.Val249Ala	missense variant	-	NC_000010.11:g.13283772A>G	ExAC,TOPMed,gnomAD
rs773067426	p.Lys252Arg	missense variant	-	NC_000010.11:g.13283763T>C	ExAC,TOPMed,gnomAD
rs139329047	p.Asp254Asn	missense variant	-	NC_000010.11:g.13283758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139329047	p.Asp254Tyr	missense variant	-	NC_000010.11:g.13283758C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774759310	p.Thr255Ser	missense variant	-	NC_000010.11:g.13283754G>C	ExAC,gnomAD
rs1349650193	p.Thr255Ser	missense variant	-	NC_000010.11:g.13283755T>A	gnomAD
RCV000190614	p.Val256Ter	frameshift	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283752_13283753del	ClinVar
rs1211564430	p.Phe257Ser	missense variant	Refsum disease (RD)	NC_000010.11:g.13283748A>G	UniProt,dbSNP
VAR_017492	p.Phe257Ser	missense variant	Refsum disease (RD)	NC_000010.11:g.13283748A>G	UniProt
rs1211564430	p.Phe257Ser	missense variant	-	NC_000010.11:g.13283748A>G	gnomAD
NCI-TCGA novel	p.Phe257Leu	missense variant	-	NC_000010.11:g.13283747G>T	NCI-TCGA
rs1251773744	p.His259Tyr	missense variant	-	NC_000010.11:g.13283743G>A	gnomAD
rs1324697721	p.Leu261Ser	missense variant	-	NC_000010.11:g.13283736A>G	gnomAD
rs1226629214	p.Leu261Met	missense variant	-	NC_000010.11:g.13283737A>T	gnomAD
COSM916256	p.His264Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283728G>T	NCI-TCGA Cosmic
rs978055214	p.Gly265Arg	missense variant	-	NC_000010.11:g.13283725C>T	TOPMed,gnomAD
rs1324188528	p.Ser266Cys	missense variant	-	NC_000010.11:g.13283721G>C	TOPMed,gnomAD
rs1449413938	p.Gly267Arg	missense variant	-	NC_000010.11:g.13283719C>G	gnomAD
rs104894179	p.Asn269His	missense variant	Refsum disease (RD)	NC_000010.11:g.13283713T>G	UniProt,dbSNP
VAR_005525	p.Asn269His	missense variant	Refsum disease (RD)	NC_000010.11:g.13283713T>G	UniProt
rs104894179	p.Asn269His	missense variant	-	NC_000010.11:g.13283713T>G	-
RCV000008022	p.Asn269His	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13283713T>G	ClinVar
NCI-TCGA novel	p.Gln272His	missense variant	-	NC_000010.11:g.13283702C>A	NCI-TCGA
rs770346220	p.Gly273Val	missense variant	-	NC_000010.11:g.13283700C>A	ExAC,gnomAD
rs780657110	p.Gly273Arg	missense variant	-	NC_000010.11:g.13283701C>T	ExAC,gnomAD
rs104894178	p.Arg275Trp	missense variant	-	NC_000010.11:g.13283695G>A	ESP,ExAC,TOPMed,gnomAD
rs104894178	p.Arg275Trp	missense variant	Refsum disease (RD)	NC_000010.11:g.13283695G>A	UniProt,dbSNP
VAR_005526	p.Arg275Trp	missense variant	Refsum disease (RD)	NC_000010.11:g.13283695G>A	UniProt
rs104894174	p.Arg275Gln	missense variant	Refsum disease (RD)	NC_000010.11:g.13283694C>T	UniProt,dbSNP
VAR_017493	p.Arg275Gln	missense variant	Refsum disease (RD)	NC_000010.11:g.13283694C>T	UniProt
rs104894174	p.Arg275Gln	missense variant	-	NC_000010.11:g.13283694C>T	ExAC,TOPMed,gnomAD
RCV000505105	p.Arg275Trp	missense variant	Retinitis pigmentosa (RP)	NC_000010.11:g.13283695G>A	ClinVar
RCV000008026	p.Arg275Gln	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13283694C>T	ClinVar
RCV000665657	p.Arg275Trp	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283695G>A	ClinVar
rs1055015202	p.Lys276Gln	missense variant	-	NC_000010.11:g.13283692T>G	TOPMed,gnomAD
rs1462384559	p.Lys276Asn	missense variant	-	NC_000010.11:g.13283690C>A	TOPMed
rs1454371975	p.Lys276Thr	missense variant	-	NC_000010.11:g.13283691T>G	gnomAD
rs1472419286	p.Ala277Thr	missense variant	-	NC_000010.11:g.13281110C>T	TOPMed
rs1211539675	p.Ala277Glu	missense variant	-	NC_000010.11:g.13281109G>T	gnomAD
rs947056017	p.Ser279Phe	missense variant	-	NC_000010.11:g.13281103G>A	TOPMed
rs1278291229	p.Cys280Tyr	missense variant	-	NC_000010.11:g.13281100C>T	gnomAD
RCV000443182	p.Cys280Ter	nonsense	-	NC_000010.11:g.13281099G>T	ClinVar
rs1057520786	p.Cys280Ter	stop gained	-	NC_000010.11:g.13281099G>T	-
rs373839944	p.Phe282Leu	missense variant	-	NC_000010.11:g.13281093G>T	ESP,ExAC,TOPMed,gnomAD
rs771288405	p.Ala283Thr	missense variant	-	NC_000010.11:g.13281092C>T	ExAC,TOPMed,gnomAD
rs538686726	p.Asp286Tyr	missense variant	-	NC_000010.11:g.13281083C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs538686726	p.Asp286Asn	missense variant	-	NC_000010.11:g.13281083C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys287Ter	stop gained	-	NC_000010.11:g.13281078G>T	NCI-TCGA
rs779606174	p.His288Gln	missense variant	-	NC_000010.11:g.13281075G>C	ExAC,TOPMed,gnomAD
rs755633033	p.Ile290Thr	missense variant	-	NC_000010.11:g.13281070A>G	ExAC
rs1414721463	p.Asp291Asn	missense variant	-	NC_000010.11:g.13281068C>T	gnomAD
rs1310532591	p.Val292Leu	missense variant	-	NC_000010.11:g.13281065C>G	TOPMed,gnomAD
rs1310532591	p.Val292Met	missense variant	-	NC_000010.11:g.13281065C>T	TOPMed,gnomAD
rs767383443	p.Gly294Cys	missense variant	-	NC_000010.11:g.13281059C>A	ExAC,gnomAD
rs1276333112	p.Gly294Asp	missense variant	-	NC_000010.11:g.13281058C>T	TOPMed
NCI-TCGA novel	p.Thr295Asn	missense variant	-	NC_000010.11:g.13281055G>T	NCI-TCGA
rs1157670907	p.Gln297Arg	missense variant	-	NC_000010.11:g.13281049T>C	gnomAD
NCI-TCGA novel	p.Gln297His	missense variant	-	NC_000010.11:g.13281048T>G	NCI-TCGA
NCI-TCGA novel	p.Ile300Ser	missense variant	-	NC_000010.11:g.13281040A>C	NCI-TCGA
rs1468367622	p.Ile300Val	missense variant	-	NC_000010.11:g.13281041T>C	TOPMed,gnomAD
rs751411612	p.Glu301Gln	missense variant	-	NC_000010.11:g.13281038C>G	ExAC,TOPMed,gnomAD
rs751411612	p.Glu301Lys	missense variant	-	NC_000010.11:g.13281038C>T	ExAC,TOPMed,gnomAD
rs142542422	p.Glu303Ala	missense variant	-	NC_000010.11:g.13281031T>G	1000Genomes,ExAC,gnomAD
rs148073878	p.Val304Ala	missense variant	-	NC_000010.11:g.13281028A>G	ESP,ExAC,TOPMed,gnomAD
rs1470521507	p.Val305Ala	missense variant	-	NC_000010.11:g.13281025A>G	TOPMed
rs1234838223	p.Val305Leu	missense variant	-	NC_000010.11:g.13281026C>A	TOPMed
rs775910876	p.Gly306Arg	missense variant	-	NC_000010.11:g.13281023C>G	ExAC,TOPMed,gnomAD
rs534106740	p.Ile307Thr	missense variant	-	NC_000010.11:g.13281019A>G	gnomAD
rs1283777687	p.Ala308Thr	missense variant	-	NC_000010.11:g.13281017C>T	gnomAD
NCI-TCGA novel	p.His309Gln	missense variant	-	NC_000010.11:g.13281012A>T	NCI-TCGA
rs765337089	p.Lys310Glu	missense variant	-	NC_000010.11:g.13281011T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe311Leu	missense variant	-	NC_000010.11:g.13281006G>T	NCI-TCGA
rs1337328957	p.Phe312Ser	missense variant	-	NC_000010.11:g.13281004A>G	gnomAD
rs777147459	p.Ala314Asp	missense variant	-	NC_000010.11:g.13280998G>T	ExAC,TOPMed,gnomAD
rs777147459	p.Ala314Val	missense variant	-	NC_000010.11:g.13280998G>A	ExAC,TOPMed,gnomAD
rs973937078	p.Glu315Ala	missense variant	-	NC_000010.11:g.13280995T>G	TOPMed
rs1330401531	p.Asn316Tyr	missense variant	-	NC_000010.11:g.13280993T>A	TOPMed
rs111664132	p.Ser317Asn	missense variant	-	NC_000010.11:g.13280989C>T	ExAC,TOPMed,gnomAD
rs773564976	p.Ser317Arg	missense variant	-	NC_000010.11:g.13280988G>T	ExAC,gnomAD
rs148951882	p.Val318Met	missense variant	-	NC_000010.11:g.13280987C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779617040	p.Leu320Val	missense variant	-	NC_000010.11:g.13280981A>C	ExAC,gnomAD
rs769303089	p.Lys321Glu	missense variant	-	NC_000010.11:g.13280978T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys321Asn	missense variant	-	NC_000010.11:g.13280976C>A	NCI-TCGA
NCI-TCGA novel	p.Ile323Met	missense variant	-	NC_000010.11:g.13278349A>C	NCI-TCGA
rs145020360	p.Met325Val	missense variant	-	NC_000010.11:g.13278345T>C	ESP,ExAC,TOPMed,gnomAD
rs145020360	p.Met325Leu	missense variant	-	NC_000010.11:g.13278345T>A	ESP,ExAC,TOPMed,gnomAD
rs1193268888	p.Met325Thr	missense variant	-	NC_000010.11:g.13278344A>G	gnomAD
rs367851769	p.Arg327Gln	missense variant	-	NC_000010.11:g.13278338C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367851769	p.Arg327Leu	missense variant	-	NC_000010.11:g.13278338C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs546257524	p.Arg327Ter	stop gained	-	NC_000010.11:g.13278339G>A	ExAC,gnomAD
RCV000314971	p.Arg327Gln	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13278338C>T	ClinVar
rs1205748629	p.Ala328Thr	missense variant	-	NC_000010.11:g.13278336C>T	gnomAD
rs144085594	p.Arg329Leu	missense variant	-	NC_000010.11:g.13278332C>A	ESP,ExAC,TOPMed,gnomAD
rs144085594	p.Arg329Pro	missense variant	-	NC_000010.11:g.13278332C>G	ESP,ExAC,TOPMed,gnomAD
rs769348267	p.Arg329Ter	stop gained	-	NC_000010.11:g.13278333G>A	ExAC,TOPMed,gnomAD
rs144085594	p.Arg329Gln	missense variant	-	NC_000010.11:g.13278332C>T	ESP,ExAC,TOPMed,gnomAD
rs144085594	p.Arg329Gln	missense variant	-	NC_000010.11:g.13278332C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu330Pro	missense variant	-	NC_000010.11:g.13278329A>G	NCI-TCGA
rs961997409	p.Leu330Val	missense variant	-	NC_000010.11:g.13278330G>C	TOPMed
rs200245065	p.Val331Leu	missense variant	-	NC_000010.11:g.13278327C>G	ESP,ExAC,TOPMed,gnomAD
rs200245065	p.Val331Met	missense variant	-	NC_000010.11:g.13278327C>T	ESP,ExAC,TOPMed,gnomAD
rs777898707	p.Arg335Ile	missense variant	-	NC_000010.11:g.13278314C>A	ExAC,gnomAD
rs777898707	p.Arg335Ile	missense variant	-	NC_000010.11:g.13278314C>A	NCI-TCGA,NCI-TCGA Cosmic
rs1424234188	p.Thr336Ile	missense variant	-	NC_000010.11:g.13278311G>A	gnomAD
rs1272487282	p.Thr336Pro	missense variant	-	NC_000010.11:g.13278312T>G	TOPMed
rs140326632	p.Asn337Lys	missense variant	-	NC_000010.11:g.13278307A>T	ESP,ExAC,TOPMed,gnomAD
rs1269704659	p.Asn337Ser	missense variant	-	NC_000010.11:g.13278308T>C	TOPMed
rs758218321	p.Asn337Asp	missense variant	-	NC_000010.11:g.13278309T>C	ExAC,TOPMed,gnomAD
RCV000591045	p.Asn337Asp	missense variant	-	NC_000010.11:g.13278309T>C	ClinVar
RCV000401804	p.Asn337Asp	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13278309T>C	ClinVar
RCV000513200	p.Leu338His	insertion	-	NC_000010.11:g.13278306_13278308dup	ClinVar
RCV000755124	p.Leu338His	insertion	Nonsyndromic cleft lip palate	NC_000010.11:g.13278306_13278308dup	ClinVar
COSM427258	p.Leu338Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13278306G>C	NCI-TCGA Cosmic
RCV000625407	p.Leu338His	insertion	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13278306_13278308dup	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003126	Anosmia	phenotype	HPO
C0003811	Cardiac Arrhythmia	phenotype	HPO
C0005745	Blepharoptosis	disease	HPO
C0007758	Cerebellar Ataxia	phenotype	HPO
C0007959	Charcot-Marie-Tooth Disease	disease	GENOMICS_ENGLAND
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0018800	Cardiomegaly	phenotype	HPO
C0018801	Heart failure	disease	HPO
C0018802	Congestive heart failure	disease	HPO
C0020580	Hypesthesia	phenotype	HPO
C0020757	Ichthyoses	disease	HPO
C0024143	Lupus Nephritis	disease	BEFREE
C0026205	Miosis disorder	disease	HPO
C0026760	Multiple Epiphyseal Dysplasia	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028077	Night Blindness	disease	HPO
C0028738	Nystagmus	disease	HPO
C0029422	Osteochondrodysplasias	group	HPO
C0031117	Peripheral Neuropathy	group	HPO
C0034960	Refsum Disease	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0035304	Retinal Degeneration	phenotype	HPO
C0035309	Retinal Diseases	group	HPO
C0035334	Retinitis Pigmentosa	disease	CLINVAR;HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0038002	Splenomegaly	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0086543	Cataract	disease	HPO
C0151908	Dry skin	phenotype	HPO
C0234132	Pyramidal sign	phenotype	HPO
C0234958	Muscle degeneration	disease	HPO
C0259817	Xerosis	disease	HPO
C0270948	Neurogenic Muscular Atrophy	phenotype	HPO
C0282528	Peroxisomal Disorders	group	GENOMICS_ENGLAND
C0375206	Hemiplegia/hemiparesis	disease	HPO
C0442874	Neuropathy	group	HPO
C0522055	Electrocardiogram abnormal	phenotype	HPO
C0541794	Skeletal muscle atrophy	phenotype	HPO
C0587246	Muscle weakness of limb	phenotype	HPO
C0700078	Decreased tendon reflex	phenotype	HPO
C0728829	Congenital pes cavus	disease	HPO
C0855329	Electrocardiographic changes	phenotype	HPO
C0878544	Cardiomyopathies	group	HPO
C1112256	Sensorimotor neuropathy	disease	HPO
C1136179	Hammer Toe	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1720508	Retinal pigment epithelial abnormality	phenotype	HPO
C1720802	Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency	disease	CTD_human
C1744601	Abnormal heart beat	phenotype	HPO
C1806780	Increased CSF protein	phenotype	HPO
C1832603	ECG abnormality	phenotype	HPO
C1834405	Nail dysplasia	disease	HPO
C1836550	Loss of developmental milestones	phenotype	HPO
C1836830	Developmental regression	disease	HPO
C1837084	Short metacarpal	phenotype	HPO
C1842820	Cardiac conduction abnormality	phenotype	HPO
C1843479	Neurogenic muscle atrophy, especially in the lower limbs	phenotype	HPO
C1848514	Short fourth metatarsal	phenotype	HPO
C1850493	Psychomotor regression, progressive	phenotype	HPO
C1855009	Psychomotor regression in infants	phenotype	HPO
C1855019	Psychomotor regression	phenotype	HPO
C1855996	Psychomotor regression beginning in infancy	phenotype	HPO
C1857121	Neurodevelopmental regression	phenotype	HPO
C1859678	Mental deterioration in childhood	phenotype	HPO
C1862475	Abnormality of retinal pigmentation	phenotype	HPO
C2749345	Refsum Disease, Adult, 1	disease	CLINVAR;UNIPROT
C3665347	Visual Impairment	phenotype	HPO
C4020885	Difficulties with night vision	phenotype	HPO
C4021611	Abnormality of epiphysis morphology	phenotype	HPO
C4021768	Abnormality of metabolism/homeostasis	group	HPO
C4023786	Elevated levels of phytanic acid	phenotype	HPO
C4280567	Abnormal skeletal development	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008198	ferrous iron binding	IDA
GO:0031406	carboxylic acid binding	IDA
GO:0031418	L-ascorbic acid binding	IEA
GO:0048037	cofactor binding	IDA
GO:0048244	phytanoyl-CoA dioxygenase activity	IDA
GO:0048244	phytanoyl-CoA dioxygenase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001561	fatty acid alpha-oxidation	IDA
GO:0001561	fatty acid alpha-oxidation	IBA
GO:0001561	fatty acid alpha-oxidation	TAS
GO:0006103	2-oxoglutarate metabolic process	IDA
GO:0006625	protein targeting to peroxisome	TAS
GO:0006720	isoprenoid metabolic process	IDA
GO:0019606	2-oxobutyrate catabolic process	IEA
GO:0097089	methyl-branched fatty acid metabolic process	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	IEA
GO:0005777	peroxisome	IDA
GO:0005782	peroxisomal matrix	TAS
GO:0005829	cytosol	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-389599	Alpha-oxidation of phytanate	TAS
R-HSA-390918	Peroxisomal lipid metabolism	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-8978868	Fatty acid metabolism	TAS
R-HSA-9033241	Peroxisomal protein import	IEA
R-HSA-9033241	Peroxisomal protein import	TAS
R-HSA-9033500	TYSND1 cleaves peroxisomal proteins	IEA
R-HSA-9609507	Protein localization	IEA
R-HSA-9609507	Protein localization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C038890	2,3,4,7,8-pentachlorodibenzofuran	2,3,4,7,8-pentachlorodibenzofuran results in decreased expression of PHYH mRNA	21724226
D015073	2-Acetylaminofluorene	[2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in decreased expression of PHYH mRNA	16158176
D015073	2-Acetylaminofluorene	[Diethylnitrosamine co-treated with 2-Acetylaminofluorene] results in decreased expression of PHYH mRNA	14656948
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of PHYH mRNA]	19467301
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of PHYH mRNA	23196670
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 decreased expression of PHYH mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHYH mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in increased expression of PHYH mRNA	15342952
D000082	Acetaminophen	Acetaminophen affects the expression of PHYH mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of PHYH mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PHYH mRNA	27153756
D000638	Amiodarone	Amiodarone affects the expression of PHYH mRNA	19483382
D000639	Amitriptyline	Amitriptyline results in increased expression of PHYH mRNA	15342952
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PHYH mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PHYH mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of PHYH gene	25304211
D001553	Benzbromarone	Benzbromarone affects the expression of PHYH mRNA	19483382
C044887	beta-methylcholine	beta-methylcholine affects the expression of PHYH mRNA	21179406
C006780	bisphenol A	bisphenol A affects the expression of PHYH mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of PHYH mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of PHYH mRNA	21786754
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of PHYH mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of PHYH mRNA	30816183
C099555	CD 437	CD 437 results in decreased expression of PHYH mRNA	12958071
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of PHYH mRNA	23650126
D002746	Chlorpromazine	Chlorpromazine results in increased expression of PHYH mRNA	15342952
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of PHYH mRNA	28472532
D002945	Cisplatin	Cisplatin affects the expression of PHYH mRNA	23300844
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of PHYH mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of PHYH mRNA	27392435
D017291	Clarithromycin	Clarithromycin results in decreased expression of PHYH mRNA	15342952
D002994	Clofibrate	Clofibrate affects the expression of PHYH mRNA	19483382
D002995	Clofibric Acid	Clofibric Acid affects the expression of PHYH mRNA	17602206
D002997	Clomipramine	Clomipramine results in increased expression of PHYH mRNA	15342952
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PHYH mRNA	24386269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PHYH mRNA	19549813
D003474	Curcumin	Curcumin results in decreased expression of PHYH mRNA	18539377
D016572	Cyclosporine	Cyclosporine results in decreased expression of PHYH mRNA	20106945; 25562108;
D000077209	Decitabine	Decitabine affects the expression of PHYH mRNA	23300844
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PHYH mRNA	21266533
C000944	dicrotophos	dicrotophos results in decreased expression of PHYH mRNA	28302478
D004041	Dietary Fats	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of PHYH mRNA]	19467301
D004041	Dietary Fats	Dietary Fats results in increased expression of PHYH mRNA	19467301
D004052	Diethylnitrosamine	[2-Acetylaminofluorene co-treated with Diethylnitrosamine] results in decreased expression of PHYH mRNA	16158176
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with 2-Acetylaminofluorene] results in decreased expression of PHYH mRNA	14656948
D004237	Diuron	Diuron results in decreased expression of PHYH mRNA	25152437
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 decreased expression of PHYH mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHYH mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of PHYH mRNA	25529476
D004317	Doxorubicin	Doxorubicin results in decreased expression of PHYH mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of PHYH mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of PHYH mRNA	23557687
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of PHYH mRNA	26496021
D000431	Ethanol	Ethanol results in decreased expression of PHYH mRNA	29361514
D000431	Ethanol	Ethanol affects the expression of PHYH mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHYH mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PHYH mRNA	15953391; 17108234; 17351261;
D005001	Ethionine	Ethionine affects the expression of PHYH mRNA	19483382
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of PHYH mRNA	23649840
C540355	fenamidone	fenamidone results in increased expression of PHYH mRNA	27029645
D005472	Fluorouracil	PHYH protein affects the susceptibility to Fluorouracil	16217747
D005485	Flutamide	Flutamide results in decreased expression of PHYH mRNA	21126777
C000593030	GSK-J4	GSK-J4 results in decreased expression of PHYH mRNA	29301935
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of PHYH mRNA	27392435
D008701	Methapyrilene	Methapyrilene results in decreased expression of PHYH mRNA	30467583
D008727	Methotrexate	Methotrexate results in increased expression of PHYH mRNA	17400583
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of PHYH mRNA	23649840
D008777	Methyltestosterone	Methyltestosterone results in increased expression of PHYH mRNA	29191790
C500085	muraglitazar	muraglitazar results in increased expression of PHYH mRNA	21515302
D009151	Mustard Gas	Mustard Gas results in increased expression of PHYH mRNA	15674844
C022838	nickel chloride	nickel chloride affects the expression of PHYH mRNA	22110744
D015242	Ofloxacin	Ofloxacin results in decreased expression of PHYH mRNA	15342952
D009853	Omeprazole	Omeprazole affects the expression of PHYH mRNA	19483382
C009618	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate results in decreased expression of PHYH mRNA	21673326
C009618	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	PON1 protein affects the reaction [O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate results in decreased expression of PHYH mRNA]	21673326
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PHYH mRNA	25729387
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PHYH mRNA	17681415
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of PHYH mRNA	17097637
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 decreased expression of PHYH mRNA	27188386
C006253	pirinixic acid	pirinixic acid affects the expression of PHYH mRNA	19483382
D011374	Progesterone	Progesterone results in increased expression of PHYH mRNA	20726854
C015586	propiverine	propiverine binds to PHYH protein	29273565
D011441	Propylthiouracil	Propylthiouracil affects the expression of PHYH mRNA	19483382
D020280	Sertraline	Sertraline results in increased expression of PHYH mRNA	15342952
C017947	sodium arsenite	sodium arsenite results in decreased expression of PHYH mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in increased expression of PHYH protein	29459688
C016104	sodium bichromate	sodium bichromate results in decreased expression of PHYH mRNA	24612858
D013015	Sotalol	Sotalol results in increased expression of PHYH mRNA	17567588
D013420	Sulfamethoxazole	Sulfamethoxazole results in decreased expression of PHYH mRNA	15342952
C016766	sulforafan	sulforafan results in increased expression of PHYH mRNA	30529165
C031655	tauroursodeoxycholic acid	tauroursodeoxycholic acid results in decreased expression of PHYH mRNA	15885361
C501413	tesaglitazar	tesaglitazar results in increased expression of PHYH mRNA	21515302
D013739	Testosterone	Testosterone results in decreased expression of PHYH mRNA	19693291
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PHYH mRNA	17942748
D013853	Thioacetamide	Thioacetamide affects the expression of PHYH mRNA	19483382
D013881	Thioridazine	Thioridazine results in increased expression of PHYH mRNA	15342952
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of PHYH mRNA	25729387
D001371	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride results in increased expression of PHYH mRNA	17175557
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PHYH mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of PHYH mRNA	26272509
D000077288	Troglitazone	Troglitazone results in decreased expression of PHYH mRNA	21515302
C406224	valdecoxib	valdecoxib results in decreased expression of PHYH mRNA	24136188
D014635	Valproic Acid	Valproic Acid affects the expression of PHYH mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PHYH mRNA	29154799; 29501571;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of PHYH gene	29501571
D014635	Valproic Acid	Valproic Acid results in increased methylation of PHYH gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of PHYH gene	25560391
D015032	Zinc	Zinc deficiency results in decreased expression of PHYH mRNA	12672911; 15671213;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0898	Cataract
KW-0209	Deafness
KW-0223	Dioxygenase
KW-0225	Disease mutation
KW-0977	Ichthyosis
KW-0408	Iron
KW-0479	Metal-binding
KW-0560	Oxidoreductase
KW-0576	Peroxisome
KW-0958	Peroxisome biogenesis disorder
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0682	Retinitis pigmentosa
KW-0809	Transit peptide
KW-0847	Vitamin C

Interpro

InterPro ID	InterPro Term
IPR008775	Phytyl_CoA_dOase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF05721	PhyH

Gene: PHYH

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction