CleftGeneDB-Search

Gene: CYRIA

Basic information

Tag	Content
Uniprot ID	Q9H0Q0; B3KNZ1; Q53QW2;
Entrez ID	81553
Genbank protein ID	CAG38535.1; CAB66639.1; AAH38971.1; EAX00879.1; AAY24282.1; BAG37539.1; BAG51503.1;
Genbank nucleotide ID	XM_006712108.3; NM_030797.3; XM_005262630.3;
Ensembl protein ID	ENSP00000384771; ENSP00000370724;
Ensembl nucleotide ID	ENSG00000197872
Gene name	CYFIP-related Rac1 interactor A
Gene symbol	CYRIA
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	27033726
Functional description	May negatively regulate RAC1 signaling and RAC1-driven cytoskeletal remodeling (Probable). May regulate chemotaxis, cell migration and epithelial polarization by controlling the polarity, plasticity, duration and extent of protrusions (Probable).
Sequence	MGNLLKVLTR EIENYPHFFL DFENAQPTEG EREIWNQISA VLQDSESILA DLQAYKGAGP 60 EIRDAIQNPN DIQLQEKAWN AVCPLVVRLK RFYEFSIRLE KALQSLLESL TCPPYTPTQH 120 LEREQALAKE FAEILHFTLR FDELKMRNPA IQNDFSYYRR TISRNRINNM HLDIENEVNN 180 EMANRMSLFY AEATPMLKTL SNATMHFVSE NKTLPIENTT DCLSTMTSVC KVMLETPEYR 240 SRFTSEETLM FCMRVMVGVI ILYDHVHPVG AFCKTSKIDM KGCIKVLKEQ APDSVEGLLN 300 ALRFTTKHLN DESTSKQIRA MLQ 323

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

There is no related protein structure for this gene.

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	CYRIA	504763	Q17QT7	Bos taurus	Prediction	More>>
1:1 ortholog	CYRIA	475673	E2QRS9	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FAM49A	102179293	A0A452F6L7	Capra hircus	Prediction	More>>
1:1 ortholog	CYRIA	81553	Q9H0Q0	Homo sapiens	Publication	More>>
1:1 ortholog	Cyria	76820	Q8BHZ0	Mus musculus	Prediction	More>>
1:1 ortholog	CYRIA	459044	H2QHG7	Pan troglodytes	Prediction	More>>
1:1 ortholog	CYRIA	100518011	F2Z5E7	Sus scrofa	Prediction	More>>
1:1 ortholog	Fam49a	298890	B0BN65	Rattus norvegicus	Prediction	More>>
1:1 ortholog	fam49a	378872	Q5TZ57	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM1685865	p.Gly2Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16588115C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu11Lys	missense variant	-	NC_000002.12:g.16588089C>T	NCI-TCGA
rs1322791056	p.Ile12Ser	missense variant	-	NC_000002.12:g.16588085A>C	gnomAD
NCI-TCGA novel	p.Glu13Lys	missense variant	-	NC_000002.12:g.16588083C>T	NCI-TCGA
NCI-TCGA novel	p.Glu13Ala	missense variant	-	NC_000002.12:g.16588082T>G	NCI-TCGA
COSM3569379	p.Phe19Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16588063G>C	NCI-TCGA Cosmic
rs1436176579	p.Phe19Ser	missense variant	-	NC_000002.12:g.16588064A>G	gnomAD
NCI-TCGA novel	p.Ala25Thr	missense variant	-	NC_000002.12:g.16565765C>T	NCI-TCGA
rs1169964068	p.Ala25Ser	missense variant	-	NC_000002.12:g.16565765C>A	gnomAD
rs1475512991	p.Gln26Arg	missense variant	-	NC_000002.12:g.16565761T>C	gnomAD
rs776019279	p.Thr28Arg	missense variant	-	NC_000002.12:g.16565755G>C	ExAC,TOPMed
rs1367531517	p.Thr28Ala	missense variant	-	NC_000002.12:g.16565756T>C	TOPMed,gnomAD
rs1185063245	p.Gly30Glu	missense variant	-	NC_000002.12:g.16565749C>T	gnomAD
rs759954624	p.Arg32Ter	stop gained	-	NC_000002.12:g.16565744T>A	ExAC,gnomAD
rs1441615573	p.Arg32Lys	missense variant	-	NC_000002.12:g.16565743C>T	TOPMed
rs774525878	p.Ile34Val	missense variant	-	NC_000002.12:g.16565738T>C	ExAC,gnomAD
rs774525878	p.Ile34Leu	missense variant	-	NC_000002.12:g.16565738T>G	ExAC,gnomAD
rs1259531215	p.Ile38Thr	missense variant	-	NC_000002.12:g.16565725A>G	TOPMed
rs1196461802	p.Ala40Thr	missense variant	-	NC_000002.12:g.16565720C>T	TOPMed,gnomAD
rs369930472	p.Val41Leu	missense variant	-	NC_000002.12:g.16565717C>G	ESP,ExAC,TOPMed,gnomAD
rs369930472	p.Val41Ile	missense variant	-	NC_000002.12:g.16565717C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln43Ter	stop gained	-	NC_000002.12:g.16565711G>A	NCI-TCGA
NCI-TCGA novel	p.Asp44Asn	missense variant	-	NC_000002.12:g.16565708C>T	NCI-TCGA
NCI-TCGA novel	p.Ser45Tyr	missense variant	-	NC_000002.12:g.16565704G>T	NCI-TCGA
rs1476211857	p.Ser45Ala	missense variant	-	NC_000002.12:g.16565705A>C	TOPMed
rs1341419518	p.Ile48Leu	missense variant	-	NC_000002.12:g.16565696T>G	gnomAD
rs1168125382	p.Leu49Phe	missense variant	-	NC_000002.12:g.16565693G>A	TOPMed
rs773458438	p.Ala50Glu	missense variant	-	NC_000002.12:g.16565689G>T	ExAC,gnomAD
rs760305450	p.Asp51Glu	missense variant	-	NC_000002.12:g.16565685G>T	ExAC,TOPMed,gnomAD
rs879281805	p.Ala54Ser	missense variant	-	NC_000002.12:g.16565678C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly57Asp	missense variant	-	NC_000002.12:g.16565668C>T	NCI-TCGA
NCI-TCGA novel	p.Gly57Val	missense variant	-	NC_000002.12:g.16565668C>A	NCI-TCGA
rs1309243978	p.Ala58Thr	missense variant	-	NC_000002.12:g.16565666C>T	TOPMed,gnomAD
rs1410052659	p.Gly59Asp	missense variant	-	NC_000002.12:g.16565662C>T	gnomAD
COSM3569377	p.Gly59Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16565663C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu61Gly	missense variant	-	NC_000002.12:g.16565656T>C	NCI-TCGA
COSM6087943	p.Glu61Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16565655C>A	NCI-TCGA Cosmic
rs1161086604	p.Arg63Ter	stop gained	-	NC_000002.12:g.16565651G>A	gnomAD
rs1293576071	p.Asp64Val	missense variant	-	NC_000002.12:g.16565647T>A	TOPMed
rs1051375504	p.Asn70Lys	missense variant	-	NC_000002.12:g.16564077A>T	TOPMed,gnomAD
rs778888630	p.Asn70Asp	missense variant	-	NC_000002.12:g.16564079T>C	ExAC,gnomAD
COSM6087944	p.Ile72Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16564072A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln73Pro	missense variant	-	NC_000002.12:g.16564069T>G	NCI-TCGA
COSM1008921	p.Gln75Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16564064G>T	NCI-TCGA Cosmic
COSM3837289	p.Glu76Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16564061C>A	NCI-TCGA Cosmic
rs770672942	p.Glu76Gly	missense variant	-	NC_000002.12:g.16564060T>C	ExAC,gnomAD
NCI-TCGA novel	p.Trp79Arg	missense variant	-	NC_000002.12:g.16564052A>G	NCI-TCGA
rs1281094866	p.Asn80Ser	missense variant	-	NC_000002.12:g.16564048T>C	gnomAD
rs775108109	p.Ala81Val	missense variant	-	NC_000002.12:g.16564045G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu85Val	missense variant	-	NC_000002.12:g.16564034G>C	NCI-TCGA
rs1333522541	p.Arg88Ser	missense variant	-	NC_000002.12:g.16564023C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys90GluPheSerTerUnk	frameshift	-	NC_000002.12:g.16564018_16564019TT>-	NCI-TCGA
rs777462186	p.Phe92Leu	missense variant	-	NC_000002.12:g.16564011A>C	ExAC,gnomAD
rs755707957	p.Tyr93His	missense variant	-	NC_000002.12:g.16564010A>G	ExAC,gnomAD
rs371312049	p.Glu94Lys	missense variant	-	NC_000002.12:g.16564007C>T	ESP,ExAC,gnomAD
rs371312049	p.Glu94Gln	missense variant	-	NC_000002.12:g.16564007C>G	ESP,ExAC,gnomAD
COSM3569376	p.Ser96Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16564000G>A	NCI-TCGA Cosmic
rs759325566	p.Ile97Val	missense variant	-	NC_000002.12:g.16563998T>C	ExAC,TOPMed,gnomAD
rs757674617	p.Lys101Gln	missense variant	-	NC_000002.12:g.16562139T>G	ExAC,gnomAD
rs754154704	p.Ala102Val	missense variant	-	NC_000002.12:g.16562135G>A	ExAC,gnomAD
COSM3569375	p.Ala102Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16562136C>T	NCI-TCGA Cosmic
COSM181852	p.Leu103Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16562133G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln104Ter	stop gained	-	NC_000002.12:g.16562127_16562128insTGTACTGAGTACCTA	NCI-TCGA
COSM1325794	p.Gln104Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16562130G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser105Arg	missense variant	-	NC_000002.12:g.16562125A>C	NCI-TCGA
rs150652954	p.Glu108Asp	missense variant	-	NC_000002.12:g.16562116T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Thr111LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.16562110C>-	NCI-TCGA
NCI-TCGA novel	p.Cys112Tyr	missense variant	-	NC_000002.12:g.16562105C>T	NCI-TCGA
rs1376655065	p.Pro113Gln	missense variant	-	NC_000002.12:g.16562102G>T	gnomAD
rs1294951607	p.Pro114His	missense variant	-	NC_000002.12:g.16562099G>T	gnomAD
rs775584664	p.Tyr115Cys	missense variant	-	NC_000002.12:g.16562096T>C	ExAC,TOPMed,gnomAD
rs762840433	p.Thr118Ile	missense variant	-	NC_000002.12:g.16562087G>A	ExAC,gnomAD
COSM5717002	p.Glu124Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16562070C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala126Val	missense variant	-	NC_000002.12:g.16562063G>A	NCI-TCGA
rs1391594211	p.Glu130Gln	missense variant	-	NC_000002.12:g.16562052C>G	TOPMed
rs1416348970	p.Glu130Gly	missense variant	-	NC_000002.12:g.16562051T>C	gnomAD
NCI-TCGA novel	p.Glu133Asp	missense variant	-	NC_000002.12:g.16562041T>G	NCI-TCGA
rs868184603	p.Glu133Lys	missense variant	-	NC_000002.12:g.16562043C>T	gnomAD
NCI-TCGA novel	p.Thr138Ile	missense variant	-	NC_000002.12:g.16562027G>A	NCI-TCGA
rs146120289	p.Arg140Gln	missense variant	-	NC_000002.12:g.16562021C>T	ESP,ExAC,TOPMed,gnomAD
rs776202730	p.Arg140Ter	stop gained	-	NC_000002.12:g.16562022G>A	ExAC,gnomAD
COSM3569374	p.Met146Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561531C>T	NCI-TCGA Cosmic
rs759576636	p.Pro149Leu	missense variant	-	NC_000002.12:g.16561523G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro149Thr	missense variant	-	NC_000002.12:g.16561524G>T	NCI-TCGA
NCI-TCGA novel	p.Ala150Gly	missense variant	-	NC_000002.12:g.16561520G>C	NCI-TCGA
rs1401651461	p.Ile151Val	missense variant	-	NC_000002.12:g.16561518T>C	gnomAD
NCI-TCGA novel	p.Asp154Glu	missense variant	-	NC_000002.12:g.16561507G>T	NCI-TCGA
rs267598965	p.Arg160Lys	missense variant	-	NC_000002.12:g.16561490C>T	-
rs1390522816	p.Thr161Ile	missense variant	-	NC_000002.12:g.16561487G>A	TOPMed,gnomAD
COSM1400713	p.Thr161Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561487G>T	NCI-TCGA Cosmic
rs765143733	p.Ser163Asn	missense variant	-	NC_000002.12:g.16561481C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg164His	missense variant	-	NC_000002.12:g.16561478C>T	NCI-TCGA
rs761608103	p.Arg164Cys	missense variant	-	NC_000002.12:g.16561479G>A	ExAC,gnomAD
rs138219641	p.Asn165Ile	missense variant	-	NC_000002.12:g.16561475T>A	ESP,ExAC,gnomAD
rs140297141	p.Arg166Cys	missense variant	-	NC_000002.12:g.16561473G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile167Met	missense variant	-	NC_000002.12:g.16561468G>C	NCI-TCGA
rs774983606	p.Asn169Ser	missense variant	-	NC_000002.12:g.16561463T>C	ExAC,gnomAD
rs1298096637	p.Asp173Asn	missense variant	-	NC_000002.12:g.16561274C>T	TOPMed,gnomAD
rs1402014689	p.Glu175Gly	missense variant	-	NC_000002.12:g.16561267T>C	gnomAD
rs376885960	p.Asn180His	missense variant	-	NC_000002.12:g.16561253T>G	ESP,ExAC,TOPMed,gnomAD
rs1437177678	p.Asn180Ser	missense variant	-	NC_000002.12:g.16561252T>C	gnomAD
rs749758901	p.Glu181Asp	missense variant	-	NC_000002.12:g.16561248C>A	ExAC,gnomAD
rs1215764592	p.Glu181Lys	missense variant	-	NC_000002.12:g.16561250C>T	TOPMed
rs778107306	p.Met182Thr	missense variant	-	NC_000002.12:g.16561246A>G	ExAC,gnomAD
rs1173754175	p.Met182Val	missense variant	-	NC_000002.12:g.16561247T>C	gnomAD
rs770256290	p.Met182Ile	missense variant	-	NC_000002.12:g.16561245C>T	ExAC,gnomAD
rs1273307780	p.Ala183Val	missense variant	-	NC_000002.12:g.16561243G>A	TOPMed
rs748461140	p.Asn184Ser	missense variant	-	NC_000002.12:g.16561240T>C	ExAC,TOPMed,gnomAD
COSM1690218	p.Arg185Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16561238G>A	NCI-TCGA Cosmic
COSM6154405	p.Arg185Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561237C>A	NCI-TCGA Cosmic
rs267598964	p.Arg185Gln	missense variant	-	NC_000002.12:g.16561237C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met186Leu	missense variant	-	NC_000002.12:g.16561235T>A	NCI-TCGA
rs755137896	p.Ser187Ala	missense variant	-	NC_000002.12:g.16561232A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu188Ile	missense variant	-	NC_000002.12:g.16561229G>T	NCI-TCGA
NCI-TCGA novel	p.Phe189Leu	missense variant	-	NC_000002.12:g.16561224G>T	NCI-TCGA
rs751662313	p.Tyr190Cys	missense variant	-	NC_000002.12:g.16561222T>C	ExAC,gnomAD
COSM3569372	p.Glu192Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561217C>T	NCI-TCGA Cosmic
rs1202227868	p.Ala193Thr	missense variant	-	NC_000002.12:g.16561214C>T	TOPMed
rs758442908	p.Thr194Met	missense variant	-	NC_000002.12:g.16561210G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro195Ala	missense variant	-	NC_000002.12:g.16561208G>C	NCI-TCGA
rs1340230848	p.Met196Val	missense variant	-	NC_000002.12:g.16561205T>C	gnomAD
rs763925381	p.Thr199Ile	missense variant	-	NC_000002.12:g.16561195G>A	ExAC,TOPMed,gnomAD
rs752366810	p.Met205Thr	missense variant	-	NC_000002.12:g.16561177A>G	ExAC,gnomAD
rs1311059079	p.Met205Val	missense variant	-	NC_000002.12:g.16561178T>C	gnomAD
NCI-TCGA novel	p.Ser209Phe	missense variant	-	NC_000002.12:g.16561165G>A	NCI-TCGA
COSM181851	p.Thr213Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561063T>G	NCI-TCGA Cosmic
rs751301503	p.Ile216Val	missense variant	-	NC_000002.12:g.16561054T>C	ExAC,gnomAD
COSM6154406	p.Cys222Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561035C>G	NCI-TCGA Cosmic
rs371480642	p.Leu223Phe	missense variant	-	NC_000002.12:g.16561033G>A	ESP
rs569533611	p.Ser228Thr	missense variant	-	NC_000002.12:g.16561017C>G	1000Genomes,ExAC,gnomAD
rs569533611	p.Ser228Asn	missense variant	-	NC_000002.12:g.16561017C>T	1000Genomes,ExAC,gnomAD
rs772542184	p.Glu235Val	missense variant	-	NC_000002.12:g.16560996T>A	ExAC,gnomAD
COSM441406	p.Glu235Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16560997C>A	NCI-TCGA Cosmic
COSM3895247	p.Glu235Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16560997C>T	NCI-TCGA Cosmic
rs765799244	p.Thr236Ser	missense variant	-	NC_000002.12:g.16560994T>A	ExAC,gnomAD
rs765799244	p.Thr236Ala	missense variant	-	NC_000002.12:g.16560994T>C	ExAC,gnomAD
rs1251362939	p.Pro237Leu	missense variant	-	NC_000002.12:g.16560990G>A	gnomAD
COSM3895246	p.Glu238Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559585C>T	NCI-TCGA Cosmic
rs1235978952	p.Glu238Ter	stop gained	-	NC_000002.12:g.16559585C>A	gnomAD
rs1215628368	p.Arg240Ile	missense variant	-	NC_000002.12:g.16559578C>A	gnomAD
rs1458873419	p.Ser241Arg	missense variant	-	NC_000002.12:g.16559576T>G	TOPMed
NCI-TCGA novel	p.Thr244Leu	insertion	-	NC_000002.12:g.16559564_16559565insGAG	NCI-TCGA
rs756679332	p.Thr244Met	missense variant	-	NC_000002.12:g.16559566G>A	gnomAD
rs756679332	p.Thr244Arg	missense variant	-	NC_000002.12:g.16559566G>C	gnomAD
rs1442277286	p.Ser245Cys	missense variant	-	NC_000002.12:g.16559564T>A	TOPMed
rs754400665	p.Ser245Asn	missense variant	-	NC_000002.12:g.16559563C>T	ExAC,gnomAD
rs867826444	p.Glu247Asp	missense variant	-	NC_000002.12:g.16559556C>G	TOPMed,gnomAD
COSM3569371	p.Glu247Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559558C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile260Asn	missense variant	-	NC_000002.12:g.16559518A>T	NCI-TCGA
COSM716959	p.His265Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559504G>A	NCI-TCGA Cosmic
rs1165724719	p.Val266Ile	missense variant	-	NC_000002.12:g.16559501C>T	TOPMed
NCI-TCGA novel	p.His267Arg	missense variant	-	NC_000002.12:g.16559497T>C	NCI-TCGA
rs761031751	p.Pro268Ser	missense variant	-	NC_000002.12:g.16559495G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala271SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.16559490_16559491insA	NCI-TCGA
rs1435501644	p.Cys273Phe	missense variant	-	NC_000002.12:g.16559479C>A	gnomAD
COSM4819613	p.Thr275Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559473G>A	NCI-TCGA Cosmic
COSM1482158	p.Ser276Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559470G>C	NCI-TCGA Cosmic
rs775772258	p.Lys277Arg	missense variant	-	NC_000002.12:g.16559467T>C	ExAC,gnomAD
rs966975936	p.Lys277Asn	missense variant	-	NC_000002.12:g.16559466C>G	TOPMed
rs759635158	p.Asp279Tyr	missense variant	-	NC_000002.12:g.16559462C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp279His	missense variant	-	NC_000002.12:g.16559462C>G	NCI-TCGA
COSM3569369	p.Asp279Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559462C>T	NCI-TCGA Cosmic
rs1163618150	p.Gly282Asp	missense variant	-	NC_000002.12:g.16555132C>T	TOPMed
COSM3990722	p.Ile284Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16555126A>T	NCI-TCGA Cosmic
COSM1251904	p.Lys285Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16555122T>G	NCI-TCGA Cosmic
rs753135702	p.Val286Ile	missense variant	-	NC_000002.12:g.16555121C>T	ExAC
NCI-TCGA novel	p.Ala291Thr	missense variant	-	NC_000002.12:g.16555106C>T	NCI-TCGA
rs767810556	p.Asp293His	missense variant	-	NC_000002.12:g.16555100C>G	ExAC,gnomAD
rs767810556	p.Asp293His	missense variant	-	NC_000002.12:g.16555100C>G	NCI-TCGA,NCI-TCGA Cosmic
rs1485694016	p.Ser294Asn	missense variant	-	NC_000002.12:g.16555096C>T	gnomAD
rs1454527933	p.Ser294Arg	missense variant	-	NC_000002.12:g.16555097T>G	gnomAD
COSM3569368	p.Gly297Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16555087C>T	NCI-TCGA Cosmic
rs1308921966	p.Ala301Asp	missense variant	-	NC_000002.12:g.16555075G>T	gnomAD
rs1308921966	p.Ala301Val	missense variant	-	NC_000002.12:g.16555075G>A	gnomAD
NCI-TCGA novel	p.Thr306Arg	missense variant	-	NC_000002.12:g.16552991G>C	NCI-TCGA
COSM4999023	p.Thr306Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16552992T>C	NCI-TCGA Cosmic
COSM3569366	p.Asp311Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16552977C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser313Pro	missense variant	-	NC_000002.12:g.16552971A>G	NCI-TCGA
rs751897701	p.Ser313Leu	missense variant	-	NC_000002.12:g.16552970G>A	ExAC,gnomAD
rs375357516	p.Thr314Ala	missense variant	-	NC_000002.12:g.16552968T>C	ESP,ExAC,TOPMed,gnomAD
COSM4846443	p.Arg319Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16552953G>C	NCI-TCGA Cosmic
rs763229345	p.Arg319Pro	missense variant	-	NC_000002.12:g.16552952C>G	ExAC,TOPMed,gnomAD
rs763229345	p.Arg319Gln	missense variant	-	NC_000002.12:g.16552952C>T	ExAC,TOPMed,gnomAD
rs955933629	p.Met321Ile	missense variant	-	NC_000002.12:g.16552945C>A	TOPMed
rs955933629	p.Met321Ile	missense variant	-	NC_000002.12:g.16552945C>G	TOPMed
COSM1400711	p.Ter324GlnGluUnkThrTerUnkUnk	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16552938A>G	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005622	intracellular	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA 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 Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C496492	abrine	abrine results in increased expression of CYRIA mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of CYRIA mRNA	25458485
D000082	Acetaminophen	Acetaminophen results in increased expression of CYRIA mRNA	29067470
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of CYRIA intron	30157460
D000447	Aldehydes	Aldehydes results in increased expression of CYRIA mRNA	25014914
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of CYRIA mRNA	24449571
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of CYRIA intron	30157460
C018475	butyraldehyde	butyraldehyde results in increased expression of CYRIA mRNA	26079696
D002117	Calcitriol	Calcitriol results in increased expression of CYRIA mRNA	16002434
D016572	Cyclosporine	Cyclosporine results in increased expression of CYRIA mRNA	20106945
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of CYRIA mRNA	31163220
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
C118739	entinostat	entinostat results in increased expression of CYRIA mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of CYRIA mRNA	30165855
D005557	Formaldehyde	Formaldehyde results in increased expression of CYRIA mRNA	27664576
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CYRIA mRNA	26752646; 27432991;
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of CYRIA mRNA	25613284
D008558	Melphalan	Melphalan results in decreased expression of CYRIA mRNA	22363485
D008694	Methamphetamine	Methamphetamine results in decreased expression of CYRIA mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in increased methylation of CYRIA intron	30157460
D009532	Nickel	Nickel results in increased expression of CYRIA mRNA	24768652; 25583101;
C510784	ormosil	[ormosil binds to Polyethylene Glycols] which results in increased expression of CYRIA mRNA	24888373
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of CYRIA mRNA	26272509
C046012	pentanal	pentanal results in increased expression of CYRIA mRNA	26079696
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of CYRIA mRNA	26272509
D011092	Polyethylene Glycols	[ormosil binds to Polyethylene Glycols] which results in increased expression of CYRIA mRNA	24888373
C005556	propionaldehyde	propionaldehyde results in increased expression of CYRIA mRNA	26079696
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of CYRIA mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of CYRIA mRNA	25351596
C017947	sodium arsenite	sodium arsenite affects the methylation of CYRIA gene	28589171
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of CYRIA mRNA	15336504
C012589	trichostatin A	trichostatin A results in increased expression of CYRIA mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CYRIA mRNA	26179874
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CYRIA mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of CYRIA mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of CYRIA gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of CYRIA mRNA	19101580; 23179753; 24383497; 24935251; 26272509; 27188386; 28001369;
D014638	Vanadates	Vanadates results in increased expression of CYRIA mRNA	22714537
D015032	Zinc	Zinc deficiency results in increased expression of CYRIA mRNA	18356318

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0449	Lipoprotein
KW-0472	Membrane
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR009828	DUF1394
IPR039789	FAM49

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF07159	DUF1394