CleftGeneDB-Search

Gene: SP8

Basic information

Tag	Content
Uniprot ID	Q8IXZ3; Q7Z615; Q7Z616; Q96MJ1;
Entrez ID	221833
Genbank protein ID	EAW93731.1; AAO38028.1; BAB71297.1; AAO38029.1;
Genbank nucleotide ID	NM_198956.3; NM_182700.5;
Ensembl protein ID	ENSP00000408792; ENSP00000354482;
Ensembl nucleotide ID	ENSG00000164651
Gene name	Transcription factor Sp8
Gene symbol	SP8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).
Sequence	MLAATCNKIG SPSPSPSSLS DSSSSFGKGF HPWKRSSSSS SASCNVVGSS LSSFGVSGAS 60 RNGGSSSAAA AAAAAAAAAA ALVSDSFSCG GSPGSSAFSL TSSSAAAAAA AAAAAASSSP 120 FANDYSVFQA PGVSGGSGGG GGGGGGGSSA HSQDGSHQPV FISKVHTSVD GLQGIYPRVG 180 MAHPYESWFK PSHPGLGAAG EVGSAGASSW WDVGAGWIDV QNPNSAAALP GSLHPAAGGL 240 QTSLHSPLGG YNSDYSGLSH SAFSSGASSH LLSPAGQHLM DGFKPVLPGS YPDSAPSPLA 300 GAGGSMLSAG PSAPLGGSPR SSARRYSGRA TCDCPNCQEA ERLGPAGASL RRKGLHSCHI 360 PGCGKVYGKT SHLKAHLRWH TGERPFVCNW LFCGKRFTRS DELQRHLRTH TGEKRFACPV 420 CNKRFMRSDH LSKHVKTHSG GGGGGGSAGS GSGGKKGSDT DSEHSAAGSP PCHSPELLQP 480 PEPGHRNGLE

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

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	SP8	102177029	A0A452E4Z3		Capra hircus	Prediction	More>>
1:1 ortholog	SP8	221833	Q8IXZ3		Homo sapiens	Prediction	More>>
1:1 ortholog	Sp8	320145	Q8BMJ8	CPO,CLO	Mus musculus	Publication	More>>
1:1 ortholog	SP8	472642	H2RBQ2		Pan troglodytes	Prediction	More>>
1:1 ortholog	Sp8	299499	D3ZQL2		Rattus norvegicus	Prediction	More>>
1:1 ortholog	sp8b	324931	Q6P0J3		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs768709451	p.Ala4Thr	missense variant	-	NC_000007.14:g.20785753C>T	ExAC,TOPMed,gnomAD
COSM6177372	p.Ala4Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785753C>A	NCI-TCGA Cosmic
rs1282228766	p.Asn7Ser	missense variant	-	NC_000007.14:g.20785743T>C	TOPMed
rs775657620	p.Asn7His	missense variant	-	NC_000007.14:g.20785744T>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys8Glu	missense variant	-	NC_000007.14:g.20785741T>C	NCI-TCGA
NCI-TCGA novel	p.Gly10Cys	missense variant	-	NC_000007.14:g.20785735C>A	NCI-TCGA
rs1310065617	p.Pro12Ser	missense variant	-	NC_000007.14:g.20785729G>A	gnomAD
rs769956379	p.Pro12His	missense variant	-	NC_000007.14:g.20785728G>T	ExAC,gnomAD
rs1410181465	p.Pro14Arg	missense variant	-	NC_000007.14:g.20785722G>C	TOPMed,gnomAD
rs746109340	p.Pro16Ala	missense variant	-	NC_000007.14:g.20785717G>C	ExAC,TOPMed,gnomAD
rs180916416	p.Ser17Cys	missense variant	-	NC_000007.14:g.20785713G>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser18Phe	missense variant	-	NC_000007.14:g.20785710G>A	NCI-TCGA
rs748106706	p.Leu19Phe	missense variant	-	NC_000007.14:g.20785708G>A	ExAC,TOPMed,gnomAD
rs1467811273	p.Asp21Val	missense variant	-	NC_000007.14:g.20785701T>A	gnomAD
NCI-TCGA novel	p.Ser22Ile	missense variant	-	NC_000007.14:g.20785698C>A	NCI-TCGA
rs1376109957	p.Ser23Pro	missense variant	-	NC_000007.14:g.20785696A>G	gnomAD
NCI-TCGA novel	p.Ser23Phe	missense variant	-	NC_000007.14:g.20785695G>A	NCI-TCGA
rs779064913	p.Gly27Arg	missense variant	-	NC_000007.14:g.20785684C>G	ExAC,TOPMed,gnomAD
rs779064913	p.Gly27Ser	missense variant	-	NC_000007.14:g.20785684C>T	ExAC,TOPMed,gnomAD
rs1478981905	p.Gly29Val	missense variant	-	NC_000007.14:g.20785677C>A	TOPMed
rs1437748280	p.His31Tyr	missense variant	-	NC_000007.14:g.20785672G>A	gnomAD
rs1423600689	p.Pro32Ser	missense variant	-	NC_000007.14:g.20785669G>A	TOPMed
rs1304724326	p.Trp33Cys	missense variant	-	NC_000007.14:g.20785664C>G	TOPMed
rs779730693	p.Trp33Gly	missense variant	-	NC_000007.14:g.20785666A>C	ExAC,TOPMed,gnomAD
rs1201638492	p.Arg35Ser	missense variant	-	NC_000007.14:g.20785660G>T	TOPMed,gnomAD
rs755749208	p.Arg35His	missense variant	-	NC_000007.14:g.20785659C>T	ExAC,TOPMed,gnomAD
rs1201638492	p.Arg35Cys	missense variant	-	NC_000007.14:g.20785660G>A	TOPMed,gnomAD
rs767861886	p.Ser36Phe	missense variant	-	NC_000007.14:g.20785656G>A	ExAC,gnomAD
rs1330864260	p.Ser37Ala	missense variant	-	NC_000007.14:g.20785654A>C	gnomAD
rs201512381	p.Ser37Leu	missense variant	-	NC_000007.14:g.20785653G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201512381	p.Ser37Leu	missense variant	-	NC_000007.14:g.20785653G>A	NCI-TCGA
rs764625575	p.Ser40Phe	missense variant	-	NC_000007.14:g.20785644G>A	ExAC,TOPMed,gnomAD
rs1444841020	p.Ala42Val	missense variant	-	NC_000007.14:g.20785638G>A	gnomAD
rs762997951	p.Ala42Thr	missense variant	-	NC_000007.14:g.20785639C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala42Ser	missense variant	-	NC_000007.14:g.20785639C>A	NCI-TCGA
rs1400376542	p.Ser43Asn	missense variant	-	NC_000007.14:g.20785635C>T	gnomAD
rs1256088302	p.Cys44Phe	missense variant	-	NC_000007.14:g.20785632C>A	TOPMed
rs1256088302	p.Cys44Tyr	missense variant	-	NC_000007.14:g.20785632C>T	TOPMed
rs1458110426	p.Val46Ala	missense variant	-	NC_000007.14:g.20785626A>G	gnomAD
rs779953529	p.Gly48Cys	missense variant	-	NC_000007.14:g.20785621C>A	ExAC,TOPMed,gnomAD
rs759748482	p.Gly48Val	missense variant	-	NC_000007.14:g.20785620C>A	ExAC,TOPMed,gnomAD
COSM5442197	p.Ser49Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785618A>G	NCI-TCGA Cosmic
rs771899660	p.Ser50Gly	missense variant	-	NC_000007.14:g.20785615T>C	ExAC,TOPMed,gnomAD
rs771899660	p.Ser50Arg	missense variant	-	NC_000007.14:g.20785615T>G	ExAC,TOPMed,gnomAD
rs1488398432	p.Leu51Ile	missense variant	-	NC_000007.14:g.20785612G>T	TOPMed
rs747938025	p.Leu51Pro	missense variant	-	NC_000007.14:g.20785611A>G	ExAC,gnomAD
rs768662124	p.Ser53Thr	missense variant	-	NC_000007.14:g.20785605C>G	ExAC,gnomAD
rs768662124	p.Ser53Asn	missense variant	-	NC_000007.14:g.20785605C>T	ExAC,gnomAD
rs139917829	p.Val56Ala	missense variant	-	NC_000007.14:g.20785596A>G	ESP,ExAC,TOPMed,gnomAD
rs779636561	p.Val56Leu	missense variant	-	NC_000007.14:g.20785597C>A	ExAC,TOPMed,gnomAD
rs147160703	p.Ser57Thr	missense variant	-	NC_000007.14:g.20785594A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147160703	p.Ser57Pro	missense variant	-	NC_000007.14:g.20785594A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1285838244	p.Gly58Arg	missense variant	-	NC_000007.14:g.20785591C>T	gnomAD
rs1247088266	p.Gly58Glu	missense variant	-	NC_000007.14:g.20785590C>T	gnomAD
rs535889885	p.Arg61Gly	missense variant	-	NC_000007.14:g.20785582T>C	1000Genomes,ExAC,gnomAD
rs1391072547	p.Asn62Lys	missense variant	-	NC_000007.14:g.20785577G>C	gnomAD
rs765347288	p.Gly63Ser	missense variant	-	NC_000007.14:g.20785576C>T	ExAC,gnomAD
rs1343278834	p.Gly63Asp	missense variant	-	NC_000007.14:g.20785575C>T	gnomAD
rs765347288	p.Gly63Cys	missense variant	-	NC_000007.14:g.20785576C>A	ExAC,gnomAD
rs759604542	p.Gly64Ser	missense variant	-	NC_000007.14:g.20785573C>T	ExAC,gnomAD
rs1465565852	p.Gly64Asp	missense variant	-	NC_000007.14:g.20785572C>T	TOPMed
rs1165440896	p.Ser65Leu	missense variant	-	NC_000007.14:g.20785569G>A	gnomAD
rs565746360	p.Ser65Ala	missense variant	-	NC_000007.14:g.20785570A>C	1000Genomes
rs547500019	p.Ser66Ala	missense variant	-	NC_000007.14:g.20785567A>C	1000Genomes
rs1188634943	p.Ala68Val	missense variant	-	NC_000007.14:g.20785560G>A	gnomAD
rs538767530	p.Ala70Gly	missense variant	-	NC_000007.14:g.20785554G>C	1000Genomes
rs1358632609	p.Ala73Pro	missense variant	-	NC_000007.14:g.20785546C>G	gnomAD
rs943994705	p.Ala74Val	missense variant	-	NC_000007.14:g.20785542G>A	TOPMed,gnomAD
rs1215372246	p.Ala75Thr	missense variant	-	NC_000007.14:g.20785540C>T	TOPMed
rs775344089	p.Ala75Gly	missense variant	-	NC_000007.14:g.20785539G>C	ExAC,TOPMed,gnomAD
rs775344089	p.Ala75Val	missense variant	-	NC_000007.14:g.20785539G>A	ExAC,TOPMed,gnomAD
rs769341609	p.Ala76Pro	missense variant	-	NC_000007.14:g.20785537C>G	ExAC,gnomAD
rs1430469635	p.Ala77Thr	missense variant	-	NC_000007.14:g.20785534C>T	gnomAD
rs1325929442	p.Ala78Val	missense variant	-	NC_000007.14:g.20785530G>A	gnomAD
rs973541708	p.Ala79Thr	missense variant	-	NC_000007.14:g.20785528C>T	TOPMed
rs1366866360	p.Ala80Thr	missense variant	-	NC_000007.14:g.20785525C>T	TOPMed
rs1403710740	p.Ala80Val	missense variant	-	NC_000007.14:g.20785524G>A	gnomAD
rs1168699273	p.Leu82Pro	missense variant	-	NC_000007.14:g.20785518A>G	gnomAD
rs1212300326	p.Val83Met	missense variant	-	NC_000007.14:g.20785516C>T	TOPMed
rs1431473322	p.Asp85His	missense variant	-	NC_000007.14:g.20785510C>G	TOPMed,gnomAD
rs1032407745	p.Phe87Leu	missense variant	-	NC_000007.14:g.20785502G>C	TOPMed,gnomAD
rs1478142542	p.Ser88Gly	missense variant	-	NC_000007.14:g.20785501T>C	TOPMed,gnomAD
rs1349036557	p.Gly90Ser	missense variant	-	NC_000007.14:g.20785495C>T	TOPMed
rs1196436682	p.Gly91Cys	missense variant	-	NC_000007.14:g.20785492C>A	gnomAD
rs1333244439	p.Ser92Leu	missense variant	-	NC_000007.14:g.20785488G>A	TOPMed
rs1369725281	p.Ser95Cys	missense variant	-	NC_000007.14:g.20785479G>C	gnomAD
rs1205999891	p.Ser103Gly	missense variant	-	NC_000007.14:g.20785456T>C	gnomAD
rs758822345	p.Ala105Ser	missense variant	-	NC_000007.14:g.20785450C>A	ExAC,gnomAD
rs1328650989	p.Ala105Val	missense variant	-	NC_000007.14:g.20785449G>A	TOPMed
rs1271165295	p.Ala106Thr	missense variant	-	NC_000007.14:g.20785447C>T	gnomAD
rs1345974227	p.Ala107Val	missense variant	-	NC_000007.14:g.20785443G>A	gnomAD
rs1256068003	p.Ala108Pro	missense variant	-	NC_000007.14:g.20785441C>G	gnomAD
rs1232031564	p.Ala109Val	missense variant	-	NC_000007.14:g.20785437G>A	TOPMed
rs1403439208	p.Ala111Pro	missense variant	-	NC_000007.14:g.20785432C>G	gnomAD
rs1040890177	p.Ala112Thr	missense variant	-	NC_000007.14:g.20785429C>T	TOPMed,gnomAD
rs1352319773	p.Ala113Val	missense variant	-	NC_000007.14:g.20785425G>A	TOPMed,gnomAD
rs1274296998	p.Ala114Thr	missense variant	-	NC_000007.14:g.20785423C>T	gnomAD
rs1414718744	p.Ala115Thr	missense variant	-	NC_000007.14:g.20785420C>T	TOPMed,gnomAD
rs1414718744	p.Ala115Ser	missense variant	-	NC_000007.14:g.20785420C>A	TOPMed,gnomAD
rs1426799880	p.Ala116Ser	missense variant	-	NC_000007.14:g.20785417C>A	gnomAD
rs1426799880	p.Ala116Thr	missense variant	-	NC_000007.14:g.20785417C>T	gnomAD
rs550042701	p.Pro120Thr	missense variant	-	NC_000007.14:g.20785405G>T	1000Genomes
rs779330461	p.Phe121Leu	missense variant	-	NC_000007.14:g.20785400G>C	ExAC,TOPMed,gnomAD
rs1411525615	p.Asn123Thr	missense variant	-	NC_000007.14:g.20785395T>G	TOPMed,gnomAD
rs1482025848	p.Asn123Lys	missense variant	-	NC_000007.14:g.20785394G>T	gnomAD
rs755067887	p.Tyr125His	missense variant	-	NC_000007.14:g.20785390A>G	ExAC,gnomAD
rs1237170252	p.Val127Ala	missense variant	-	NC_000007.14:g.20785383A>G	TOPMed
rs753816024	p.Val127Leu	missense variant	-	NC_000007.14:g.20785384C>G	ExAC,TOPMed,gnomAD
rs753816024	p.Val127Ile	missense variant	-	NC_000007.14:g.20785384C>T	ExAC,TOPMed,gnomAD
rs766508195	p.Ala130Ser	missense variant	-	NC_000007.14:g.20785375C>A	ExAC,gnomAD
rs1280949481	p.Ala130Val	missense variant	-	NC_000007.14:g.20785374G>A	gnomAD
rs1195661346	p.Gly132Arg	missense variant	-	NC_000007.14:g.20785369C>T	TOPMed
rs1323200392	p.Gly132Glu	missense variant	-	NC_000007.14:g.20785368C>T	gnomAD
rs760910011	p.Val133Leu	missense variant	-	NC_000007.14:g.20785366C>G	ExAC,TOPMed,gnomAD
rs760910011	p.Val133Ile	missense variant	-	NC_000007.14:g.20785366C>T	ExAC,TOPMed,gnomAD
rs760910011	p.Val133Phe	missense variant	-	NC_000007.14:g.20785366C>A	ExAC,TOPMed,gnomAD
rs750685504	p.Ser137Gly	missense variant	-	NC_000007.14:g.20785354T>C	ExAC,TOPMed,gnomAD
COSM5554609	p.Gly138Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785351C>T	NCI-TCGA Cosmic
rs1341450014	p.Gly140Asp	missense variant	-	NC_000007.14:g.20785344C>T	TOPMed
rs1334214157	p.Gly141Asp	missense variant	-	NC_000007.14:g.20785341C>T	gnomAD
rs1360574211	p.Gly141Arg	missense variant	-	NC_000007.14:g.20785342C>G	TOPMed,gnomAD
rs1360574211	p.Gly141Ser	missense variant	-	NC_000007.14:g.20785342C>T	TOPMed,gnomAD
rs1360574211	p.Gly141Cys	missense variant	-	NC_000007.14:g.20785342C>A	TOPMed,gnomAD
rs1389181991	p.Gly142Trp	missense variant	-	NC_000007.14:g.20785339C>A	gnomAD
rs185796187	p.Gly145Cys	missense variant	-	NC_000007.14:g.20785330C>A	1000Genomes,TOPMed
rs185796187	p.Gly145Ser	missense variant	-	NC_000007.14:g.20785330C>T	1000Genomes,TOPMed
NCI-TCGA novel	p.Gly145ProPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.20785330_20785331insTGAACGAGTCGGACACCAGG	NCI-TCGA
rs1407133909	p.Ser149Pro	missense variant	-	NC_000007.14:g.20785318A>G	gnomAD
rs1473128264	p.Ala150Ser	missense variant	-	NC_000007.14:g.20785315C>A	gnomAD
rs1239444422	p.Ala150Gly	missense variant	-	NC_000007.14:g.20785314G>C	gnomAD
rs1202072446	p.His151Asn	missense variant	-	NC_000007.14:g.20785312G>T	TOPMed,gnomAD
rs1184988084	p.Ser152Leu	missense variant	-	NC_000007.14:g.20785308G>A	gnomAD
rs1461033833	p.Ser152Pro	missense variant	-	NC_000007.14:g.20785309A>G	gnomAD
rs1210943564	p.Gln153His	missense variant	-	NC_000007.14:g.20785304C>G	gnomAD
rs1291750583	p.Gly155Val	missense variant	-	NC_000007.14:g.20785299C>A	TOPMed
rs762907472	p.His157Pro	missense variant	-	NC_000007.14:g.20785293T>G	ExAC,gnomAD
rs1380638343	p.Pro159Leu	missense variant	-	NC_000007.14:g.20785287G>A	gnomAD
rs759538816	p.Ile162Phe	missense variant	-	NC_000007.14:g.20785279T>A	ExAC,TOPMed,gnomAD
rs759538816	p.Ile162Leu	missense variant	-	NC_000007.14:g.20785279T>G	ExAC,TOPMed,gnomAD
rs775938495	p.Ile162Thr	missense variant	-	NC_000007.14:g.20785278A>G	ExAC,gnomAD
rs1451307323	p.Val165Met	missense variant	-	NC_000007.14:g.20785270C>T	gnomAD
rs1344538960	p.Val165Ala	missense variant	-	NC_000007.14:g.20785269A>G	gnomAD
rs746653622	p.Thr167Asn	missense variant	-	NC_000007.14:g.20785263G>T	ExAC,gnomAD
rs772398808	p.Val169Gly	missense variant	-	NC_000007.14:g.20785257A>C	ExAC,TOPMed,gnomAD
rs748563164	p.Gly171Arg	missense variant	-	NC_000007.14:g.20785252C>T	ExAC,TOPMed,gnomAD
rs748563164	p.Gly171Arg	missense variant	-	NC_000007.14:g.20785252C>T	NCI-TCGA,NCI-TCGA Cosmic
rs200187315	p.Gly171Glu	missense variant	-	NC_000007.14:g.20785251C>T	ExAC,TOPMed,gnomAD
rs200187315	p.Gly171Ala	missense variant	-	NC_000007.14:g.20785251C>G	ExAC,TOPMed,gnomAD
rs779936279	p.Leu172Pro	missense variant	-	NC_000007.14:g.20785248A>G	ExAC,gnomAD
rs750667187	p.Gln173Pro	missense variant	-	NC_000007.14:g.20785245T>G	ExAC,TOPMed,gnomAD
rs767890193	p.Gly174Asp	missense variant	-	NC_000007.14:g.20785242C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile175ThrPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20785239A>-	NCI-TCGA
rs377621423	p.Arg178Gln	missense variant	-	NC_000007.14:g.20785230C>T	ESP,ExAC,TOPMed,gnomAD
rs765110354	p.Val179Gly	missense variant	-	NC_000007.14:g.20785227A>C	ExAC,gnomAD
rs1180170092	p.His183Pro	missense variant	-	NC_000007.14:g.20785215T>G	gnomAD
rs1449152853	p.Tyr185Cys	missense variant	-	NC_000007.14:g.20785209T>C	TOPMed
rs1049531704	p.Glu186Asp	missense variant	-	NC_000007.14:g.20785205C>A	TOPMed
rs1438568832	p.Ser187Leu	missense variant	-	NC_000007.14:g.20785203G>A	gnomAD
rs1335463860	p.Trp188Cys	missense variant	-	NC_000007.14:g.20785199C>G	TOPMed
rs1363611131	p.Pro191Ser	missense variant	-	NC_000007.14:g.20785192G>A	gnomAD
rs1161769057	p.Pro191Leu	missense variant	-	NC_000007.14:g.20785191G>A	gnomAD
rs1391027524	p.Ser192Leu	missense variant	-	NC_000007.14:g.20785188G>A	NCI-TCGA
rs1391027524	p.Ser192Leu	missense variant	-	NC_000007.14:g.20785188G>A	gnomAD
rs1261557320	p.Pro194Leu	missense variant	-	NC_000007.14:g.20785182G>A	gnomAD
rs771667835	p.Leu196Val	missense variant	-	NC_000007.14:g.20785177G>C	ExAC,gnomAD
rs1267324942	p.Gly197Ser	missense variant	-	NC_000007.14:g.20785174C>T	gnomAD
rs145737768	p.Gly200Ala	missense variant	-	NC_000007.14:g.20785164C>G	1000Genomes
COSM3880073	p.Glu201Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785162C>T	NCI-TCGA Cosmic
rs1356742106	p.Gly203Asp	missense variant	-	NC_000007.14:g.20785155C>T	TOPMed
rs769073985	p.Ser204Leu	missense variant	-	NC_000007.14:g.20785152G>A	ExAC,gnomAD
rs749742038	p.Ala205Thr	missense variant	-	NC_000007.14:g.20785150C>T	ExAC,gnomAD
rs1271253703	p.Ala207Val	missense variant	-	NC_000007.14:g.20785143G>A	TOPMed
rs371130757	p.Trp210Leu	missense variant	-	NC_000007.14:g.20785134C>A	ESP,ExAC,TOPMed,gnomAD
rs1404429893	p.Trp211Ter	stop gained	-	NC_000007.14:g.20785130C>T	gnomAD
rs781444087	p.Val213Met	missense variant	-	NC_000007.14:g.20785126C>T	ExAC,gnomAD
rs781444087	p.Val213Leu	missense variant	-	NC_000007.14:g.20785126C>G	ExAC,gnomAD
rs1481601230	p.Val220Leu	missense variant	-	NC_000007.14:g.20785105C>G	gnomAD
rs950078438	p.Asn222Ser	missense variant	-	NC_000007.14:g.20785098T>C	TOPMed
rs201194192	p.Asn222Lys	missense variant	-	NC_000007.14:g.20785097G>C	1000Genomes,ExAC,gnomAD
rs1199402893	p.Pro223Ser	missense variant	-	NC_000007.14:g.20785096G>A	gnomAD
rs1483664496	p.Ser225Gly	missense variant	-	NC_000007.14:g.20785090T>C	TOPMed,gnomAD
rs1483664496	p.Ser225Cys	missense variant	-	NC_000007.14:g.20785090T>A	TOPMed,gnomAD
rs545093306	p.Ala226Glu	missense variant	-	NC_000007.14:g.20785086G>T	1000Genomes,ExAC,gnomAD
rs1480117950	p.Ala227Thr	missense variant	-	NC_000007.14:g.20785084C>T	gnomAD
rs1256178490	p.Ala227Val	missense variant	-	NC_000007.14:g.20785083G>A	gnomAD
rs1321084003	p.Leu229Met	missense variant	-	NC_000007.14:g.20785078G>T	gnomAD
rs774107328	p.Gly231Ser	missense variant	-	NC_000007.14:g.20785072C>T	ExAC,TOPMed,gnomAD
rs776116903	p.Pro235Leu	missense variant	-	NC_000007.14:g.20785059G>A	ExAC,gnomAD
rs1389890860	p.Pro235Ser	missense variant	-	NC_000007.14:g.20785060G>A	TOPMed
rs1336352015	p.Ala236Val	missense variant	-	NC_000007.14:g.20785056G>A	TOPMed
rs1303583946	p.Ala237Val	missense variant	-	NC_000007.14:g.20785053G>A	gnomAD
rs770373661	p.Ala237Ser	missense variant	-	NC_000007.14:g.20785054C>A	ExAC
COSM3025196	p.Leu240SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20785046C>-	NCI-TCGA Cosmic
rs757415628	p.Ser243Leu	missense variant	-	NC_000007.14:g.20785035G>A	ExAC,gnomAD
rs1056004787	p.His245Gln	missense variant	-	NC_000007.14:g.20785028G>C	TOPMed
rs1319993146	p.Pro247Arg	missense variant	-	NC_000007.14:g.20785023G>C	TOPMed
rs747192069	p.Leu248Ile	missense variant	-	NC_000007.14:g.20785021G>T	ExAC,gnomAD
rs1256442223	p.Leu248Pro	missense variant	-	NC_000007.14:g.20785020A>G	gnomAD
rs754708367	p.Tyr251His	missense variant	-	NC_000007.14:g.20785012A>G	ExAC,gnomAD
rs1336833262	p.Tyr251Cys	missense variant	-	NC_000007.14:g.20785011T>C	TOPMed
rs1209099800	p.Asn252His	missense variant	-	NC_000007.14:g.20785009T>G	gnomAD
rs1352779230	p.Asn252Ser	missense variant	-	NC_000007.14:g.20785008T>C	gnomAD
rs1258850696	p.Ser253Ter	stop gained	-	NC_000007.14:g.20785005G>T	gnomAD
rs755983981	p.Tyr255Asp	missense variant	-	NC_000007.14:g.20785000A>C	ExAC
rs1256480233	p.Tyr255Ser	missense variant	-	NC_000007.14:g.20784999T>G	TOPMed
rs1315816125	p.Gly257Cys	missense variant	-	NC_000007.14:g.20784994C>A	gnomAD
rs113150333	p.Ser261Ter	stop gained	-	NC_000007.14:g.20784981G>T	gnomAD
rs1380826206	p.Ser261Pro	missense variant	-	NC_000007.14:g.20784982A>G	gnomAD
rs755696391	p.Ser264Gly	missense variant	-	NC_000007.14:g.20784973T>C	ExAC,TOPMed,gnomAD
rs1387779139	p.Ser264Ile	missense variant	-	NC_000007.14:g.20784972C>A	gnomAD
rs1479243350	p.Gly266Ser	missense variant	-	NC_000007.14:g.20784967C>T	TOPMed,gnomAD
rs542629548	p.Ala267Pro	missense variant	-	NC_000007.14:g.20784964C>G	TOPMed
rs773842075	p.His270Gln	missense variant	-	NC_000007.14:g.20784953G>C	ExAC,gnomAD
COSM3880069	p.His270Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784955G>A	NCI-TCGA Cosmic
rs1442452572	p.Leu271Pro	missense variant	-	NC_000007.14:g.20784951A>G	gnomAD
rs1460576170	p.Pro274Ser	missense variant	-	NC_000007.14:g.20784943G>A	TOPMed
rs866954289	p.Ala275Ser	missense variant	-	NC_000007.14:g.20784940C>A	gnomAD
rs1448449819	p.Gly276Arg	missense variant	-	NC_000007.14:g.20784937C>T	gnomAD
rs1448449819	p.Gly276Arg	missense variant	-	NC_000007.14:g.20784937C>G	gnomAD
rs1259591593	p.His278Asp	missense variant	-	NC_000007.14:g.20784931G>C	TOPMed,gnomAD
rs1259591593	p.His278Tyr	missense variant	-	NC_000007.14:g.20784931G>A	TOPMed,gnomAD
rs763855057	p.His278Arg	missense variant	-	NC_000007.14:g.20784930T>C	ExAC,gnomAD
rs1292657706	p.Met280Ile	missense variant	-	NC_000007.14:g.20784923C>T	gnomAD
rs762534979	p.Met280Leu	missense variant	-	NC_000007.14:g.20784925T>A	ExAC,gnomAD
rs762534979	p.Met280Val	missense variant	-	NC_000007.14:g.20784925T>C	ExAC,gnomAD
rs749989235	p.Gly282Arg	missense variant	-	NC_000007.14:g.20784919C>G	ExAC,TOPMed,gnomAD
rs1357589911	p.Lys284Asn	missense variant	-	NC_000007.14:g.20784911C>G	gnomAD
rs1431946904	p.Val286Leu	missense variant	-	NC_000007.14:g.20784907C>A	gnomAD
rs1392059319	p.Gly289Asp	missense variant	-	NC_000007.14:g.20784897C>T	gnomAD
rs1382200133	p.Gly289Ser	missense variant	-	NC_000007.14:g.20784898C>T	gnomAD
rs760107060	p.Pro292Ala	missense variant	-	NC_000007.14:g.20784889G>C	ExAC,gnomAD
rs760107060	p.Pro292Thr	missense variant	-	NC_000007.14:g.20784889G>T	ExAC,gnomAD
rs777345114	p.Pro292Arg	missense variant	-	NC_000007.14:g.20784888G>C	ExAC,gnomAD
rs760107060	p.Pro292Ser	missense variant	-	NC_000007.14:g.20784889G>A	ExAC,gnomAD
rs770885686	p.Asp293Ala	missense variant	-	NC_000007.14:g.20784885T>G	ExAC,gnomAD
rs1467281824	p.Pro296Arg	missense variant	-	NC_000007.14:g.20784876G>C	gnomAD
rs1192173318	p.Pro298Leu	missense variant	-	NC_000007.14:g.20784870G>A	gnomAD
rs954394962	p.Leu299Val	missense variant	-	NC_000007.14:g.20784868G>C	TOPMed,gnomAD
rs555800684	p.Gly301Ser	missense variant	-	NC_000007.14:g.20784862C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs555800684	p.Gly301Ser	missense variant	-	NC_000007.14:g.20784862C>T	NCI-TCGA
rs779771095	p.Ala302Gly	missense variant	-	NC_000007.14:g.20784858G>C	ExAC,gnomAD
rs1209490093	p.Gly303Ala	missense variant	-	NC_000007.14:g.20784855C>G	gnomAD
rs1294707479	p.Gly304Asp	missense variant	-	NC_000007.14:g.20784852C>T	TOPMed
rs1341701143	p.Gly304Ser	missense variant	-	NC_000007.14:g.20784853C>T	gnomAD
rs1294707479	p.Gly304Val	missense variant	-	NC_000007.14:g.20784852C>A	TOPMed
rs1227093071	p.Ser305Phe	missense variant	-	NC_000007.14:g.20784849G>A	gnomAD
rs1234833470	p.Ser308Arg	missense variant	-	NC_000007.14:g.20784841T>G	TOPMed
rs1402575196	p.Ala309Val	missense variant	-	NC_000007.14:g.20784837G>A	gnomAD
rs755957403	p.Ala309Thr	missense variant	-	NC_000007.14:g.20784838C>T	ExAC,TOPMed,gnomAD
rs1364478606	p.Pro311Thr	missense variant	-	NC_000007.14:g.20784832G>T	gnomAD
rs1328910673	p.Pro311Leu	missense variant	-	NC_000007.14:g.20784831G>A	gnomAD
rs1167135932	p.Ala313Val	missense variant	-	NC_000007.14:g.20784825G>A	gnomAD
rs750352032	p.Ala313Thr	missense variant	-	NC_000007.14:g.20784826C>T	ExAC,TOPMed,gnomAD
rs1431368530	p.Gly317Ala	missense variant	-	NC_000007.14:g.20784813C>G	gnomAD
rs1431368530	p.Gly317Asp	missense variant	-	NC_000007.14:g.20784813C>T	gnomAD
rs966796330	p.Gly317Ser	missense variant	-	NC_000007.14:g.20784814C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly317AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.20784813C>-	NCI-TCGA
rs1019210525	p.Ser318Cys	missense variant	-	NC_000007.14:g.20784810G>C	TOPMed,gnomAD
rs1019210525	p.Ser318Phe	missense variant	-	NC_000007.14:g.20784810G>A	TOPMed,gnomAD
rs756696662	p.Pro319Ala	missense variant	-	NC_000007.14:g.20784808G>C	ExAC,TOPMed,gnomAD
rs1378217851	p.Arg320His	missense variant	-	NC_000007.14:g.20784804C>T	TOPMed
rs1205287201	p.Arg320Cys	missense variant	-	NC_000007.14:g.20784805G>A	gnomAD
rs751028730	p.Ala323Ser	missense variant	-	NC_000007.14:g.20784796C>A	ExAC,gnomAD
rs1324645918	p.Arg324His	missense variant	-	NC_000007.14:g.20784792C>T	TOPMed,gnomAD
rs1346875868	p.Arg325Leu	missense variant	-	NC_000007.14:g.20784789C>A	gnomAD
rs762599484	p.Arg325Gly	missense variant	-	NC_000007.14:g.20784790G>C	ExAC,gnomAD
rs762599484	p.Arg325Cys	missense variant	-	NC_000007.14:g.20784790G>A	ExAC,gnomAD
rs1345407182	p.Tyr326Cys	missense variant	-	NC_000007.14:g.20784786T>C	gnomAD
rs1443691807	p.Ser327Cys	missense variant	-	NC_000007.14:g.20784783G>C	gnomAD
rs1362242086	p.Ala330Thr	missense variant	-	NC_000007.14:g.20784775C>T	TOPMed
rs1382782294	p.Cys337Tyr	missense variant	-	NC_000007.14:g.20784753C>T	TOPMed
rs1020817241	p.Gln338Arg	missense variant	-	NC_000007.14:g.20784750T>C	TOPMed,gnomAD
rs1177888399	p.Ala340Ser	missense variant	-	NC_000007.14:g.20784745C>A	gnomAD
rs1471162912	p.Ala340Val	missense variant	-	NC_000007.14:g.20784744G>A	gnomAD
rs1471162912	p.Ala340Glu	missense variant	-	NC_000007.14:g.20784744G>T	gnomAD
rs1301373128	p.Arg342Gly	missense variant	-	NC_000007.14:g.20784739G>C	TOPMed
NCI-TCGA novel	p.Arg342Trp	missense variant	-	NC_000007.14:g.20784739G>A	NCI-TCGA
rs777257096	p.Leu343Met	missense variant	-	NC_000007.14:g.20784736G>T	ExAC,gnomAD
rs773279084	p.Ala346Ser	missense variant	-	NC_000007.14:g.20784727C>A	ExAC,gnomAD
rs773279084	p.Ala346Thr	missense variant	-	NC_000007.14:g.20784727C>T	ExAC,gnomAD
rs772062700	p.Ala346Val	missense variant	-	NC_000007.14:g.20784726G>A	ExAC,gnomAD
rs748352440	p.Gly347Arg	missense variant	-	NC_000007.14:g.20784724C>T	ExAC,gnomAD
rs1323488068	p.Ala348Ser	missense variant	-	NC_000007.14:g.20784721C>A	TOPMed,gnomAD
rs1323488068	p.Ala348Thr	missense variant	-	NC_000007.14:g.20784721C>T	TOPMed,gnomAD
rs1224976079	p.Lys353Arg	missense variant	-	NC_000007.14:g.20784705T>C	gnomAD
rs1370610401	p.Gly354Asp	missense variant	-	NC_000007.14:g.20784702C>T	gnomAD
NCI-TCGA novel	p.Gly354Val	missense variant	-	NC_000007.14:g.20784702C>A	NCI-TCGA
rs1353937566	p.His359Arg	missense variant	-	NC_000007.14:g.20784687T>C	TOPMed
NCI-TCGA novel	p.Cys363Tyr	missense variant	-	NC_000007.14:g.20784675C>T	NCI-TCGA
COSM3637253	p.Tyr367Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784663T>C	NCI-TCGA Cosmic
rs745709816	p.Gly368Arg	missense variant	-	NC_000007.14:g.20784661C>G	ExAC,gnomAD
rs780870173	p.Gly368Ala	missense variant	-	NC_000007.14:g.20784660C>G	ExAC,gnomAD
COSM3025186	p.Ser371Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784651G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala375Val	missense variant	-	NC_000007.14:g.20784639G>A	NCI-TCGA
rs1468053455	p.Thr381Met	missense variant	-	NC_000007.14:g.20784621G>A	TOPMed
rs1445491226	p.Trp390Ter	stop gained	-	NC_000007.14:g.20784593C>T	gnomAD
rs752368105	p.Leu391Val	missense variant	-	NC_000007.14:g.20784592G>C	ExAC,TOPMed,gnomAD
rs1344080751	p.Phe392Leu	missense variant	-	NC_000007.14:g.20784589A>G	gnomAD
COSM3880065	p.Arg396Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784577G>A	NCI-TCGA Cosmic
rs1419891473	p.Thr398Met	missense variant	-	NC_000007.14:g.20784570G>A	TOPMed
rs1218641859	p.Thr398Ala	missense variant	-	NC_000007.14:g.20784571T>C	gnomAD
rs1315619724	p.Arg399His	missense variant	-	NC_000007.14:g.20784567C>T	gnomAD
rs1315619724	p.Arg399His	missense variant	-	NC_000007.14:g.20784567C>T	NCI-TCGA Cosmic
COSM3880063	p.Asp401Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784562C>T	NCI-TCGA Cosmic
rs1297691593	p.Gly412Val	missense variant	-	NC_000007.14:g.20784528C>A	gnomAD
NCI-TCGA novel	p.Ala417Thr	missense variant	-	NC_000007.14:g.20784514C>T	NCI-TCGA
rs375071862	p.Pro419Leu	missense variant	-	NC_000007.14:g.20784507G>A	ESP,ExAC,TOPMed,gnomAD
rs538728047	p.Val420Ile	missense variant	-	NC_000007.14:g.20784505C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs538728047	p.Val420Phe	missense variant	-	NC_000007.14:g.20784505C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1015946690	p.Asn422Lys	missense variant	-	NC_000007.14:g.20784497G>C	TOPMed,gnomAD
rs776419601	p.Lys423Asn	missense variant	-	NC_000007.14:g.20784494C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg427His	missense variant	-	NC_000007.14:g.20784483C>T	NCI-TCGA
rs1288944503	p.His434Asn	missense variant	-	NC_000007.14:g.20784463G>T	gnomAD
rs1244877775	p.Val435Met	missense variant	-	NC_000007.14:g.20784460C>T	TOPMed,gnomAD
rs1248184003	p.Gly440Ser	missense variant	-	NC_000007.14:g.20784445C>T	TOPMed
rs770644359	p.Gly440Val	missense variant	-	NC_000007.14:g.20784444C>A	ExAC,gnomAD
rs1406678092	p.Gly441Val	missense variant	-	NC_000007.14:g.20784441C>A	gnomAD
rs1165342660	p.Gly442Ser	missense variant	-	NC_000007.14:g.20784439C>T	TOPMed
rs1240369968	p.Gly443GlyAlaTerLeuTerLysAlaLeuProLysIleProSerUnk	stop gained	-	NC_000007.14:g.20784434_20784435insTAGAAGGAATTTTAGGTAAGGCTTTTTAAAGCTAAGCT	gnomAD
rs886470749	p.Gly443Cys	missense variant	-	NC_000007.14:g.20784436C>A	TOPMed,gnomAD
rs1213563858	p.Gly444GlyThrGluLeuGlnGlnSerGlnPheTerLysSerLeuCysUnk	stop gained	-	NC_000007.14:g.20784432_20784433insACAGAGGCTCTTTTAAAATTGGCTTTGCTGGAGCTCTGTTC	gnomAD
rs1046410853	p.Gly446Asp	missense variant	-	NC_000007.14:g.20784426C>T	TOPMed,gnomAD
rs1301333504	p.Gly446Ser	missense variant	-	NC_000007.14:g.20784427C>T	gnomAD
rs1355287519	p.Ala448Pro	missense variant	-	NC_000007.14:g.20784421C>G	gnomAD
rs371931411	p.Ala448Val	missense variant	-	NC_000007.14:g.20784420G>A	ESP,TOPMed,gnomAD
rs974417925	p.Gly451Asp	missense variant	-	NC_000007.14:g.20784411C>T	TOPMed,gnomAD
rs1484358713	p.Ser452Arg	missense variant	-	NC_000007.14:g.20784409T>G	TOPMed
rs1200853231	p.Gly453Ser	missense variant	-	NC_000007.14:g.20784406C>T	gnomAD
rs1188466733	p.Gly454Ser	missense variant	-	NC_000007.14:g.20784403C>T	TOPMed
rs1188466733	p.Gly454Ser	missense variant	-	NC_000007.14:g.20784403C>T	NCI-TCGA Cosmic
rs1299440721	p.Lys455Gln	missense variant	-	NC_000007.14:g.20784400T>G	gnomAD
rs1208705788	p.Lys455Asn	missense variant	-	NC_000007.14:g.20784398C>A	TOPMed,gnomAD
rs945618450	p.Lys455Arg	missense variant	-	NC_000007.14:g.20784399T>C	TOPMed,gnomAD
rs1480771534	p.Lys456Asn	missense variant	-	NC_000007.14:g.20784395C>A	gnomAD
rs1195704252	p.Thr460Ala	missense variant	-	NC_000007.14:g.20784385T>C	TOPMed
rs571375213	p.Asp461Glu	missense variant	-	NC_000007.14:g.20784380G>C	1000Genomes
rs1408914623	p.Ser465Thr	missense variant	-	NC_000007.14:g.20784369C>G	TOPMed
rs1360603973	p.Pro470Leu	missense variant	-	NC_000007.14:g.20784354G>A	TOPMed
rs1343538501	p.Pro471Leu	missense variant	-	NC_000007.14:g.20784351G>A	gnomAD
rs1434933594	p.Pro471Ser	missense variant	-	NC_000007.14:g.20784352G>A	TOPMed
rs1355142852	p.Cys472Tyr	missense variant	-	NC_000007.14:g.20784348C>T	TOPMed
rs1281484074	p.Ser474Ala	missense variant	-	NC_000007.14:g.20784343A>C	gnomAD
rs1281484074	p.Ser474Pro	missense variant	-	NC_000007.14:g.20784343A>G	gnomAD
rs1386245383	p.Leu477Val	missense variant	-	NC_000007.14:g.20784334G>C	TOPMed,gnomAD
rs1300060596	p.Leu478Met	missense variant	-	NC_000007.14:g.20784331G>T	gnomAD
rs1400112706	p.Gln479His	missense variant	-	NC_000007.14:g.20784326C>A	gnomAD
rs1293509500	p.Gln479Ter	stop gained	-	NC_000007.14:g.20784328G>A	TOPMed
rs1460646355	p.Gln479Pro	missense variant	-	NC_000007.14:g.20784327T>G	TOPMed,gnomAD
rs1471272033	p.Pro480Leu	missense variant	-	NC_000007.14:g.20784324G>A	gnomAD
rs925215102	p.Pro480Ser	missense variant	-	NC_000007.14:g.20784325G>A	TOPMed,gnomAD
rs977938933	p.Pro481Ser	missense variant	-	NC_000007.14:g.20784322G>A	TOPMed,gnomAD
rs1197554380	p.Pro481His	missense variant	-	NC_000007.14:g.20784321G>T	gnomAD
COSM4613719	p.Glu482SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20784320G>-	NCI-TCGA Cosmic
rs1020320910	p.Pro483Thr	missense variant	-	NC_000007.14:g.20784316G>T	TOPMed
NCI-TCGA novel	p.Pro483Ala	missense variant	-	NC_000007.14:g.20784316G>C	NCI-TCGA
rs754614485	p.Gly484Arg	missense variant	-	NC_000007.14:g.20784313C>T	ExAC,gnomAD
rs753449952	p.Gly484Ala	missense variant	-	NC_000007.14:g.20784312C>G	ExAC
rs960120291	p.His485Gln	missense variant	-	NC_000007.14:g.20784308G>T	gnomAD
rs1014251491	p.His485Asp	missense variant	-	NC_000007.14:g.20784310G>C	TOPMed,gnomAD
rs368503334	p.Arg486Cys	missense variant	-	NC_000007.14:g.20784307G>A	ESP,ExAC,TOPMed,gnomAD
rs756498634	p.Arg486His	missense variant	-	NC_000007.14:g.20784306C>T	ExAC,TOPMed,gnomAD
rs1255274373	p.Gly488Ser	missense variant	-	NC_000007.14:g.20784301C>T	TOPMed,gnomAD
rs537668857	p.Leu489Pro	missense variant	-	NC_000007.14:g.20784297A>G	1000Genomes,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005586	Bipolar Disorder	disease	BEFREE;PSYGENET
C0033975	Psychotic Disorders	group	BEFREE;PSYGENET
C0349204	Nonorganic psychosis	disease	BEFREE;PSYGENET

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	DNA binding	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0009953	dorsal/ventral pattern formation	IEA
GO:0009954	proximal/distal pattern formation	IEA
GO:0030326	embryonic limb morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of SP8 mRNA	26377693
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 decreased expression of SP8 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 decreased expression of SP8 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 SP8 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 decreased expression of SP8 mRNA	27188386
C496492	abrine	abrine results in decreased expression of SP8 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of SP8 gene	27153756
D001151	Arsenic	Arsenic affects the methylation of SP8 gene	25304211
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of SP8 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased methylation of SP8 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased expression of SP8 mRNA	30816183
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SP8 gene	20938992
D016572	Cyclosporine	Cyclosporine results in decreased expression of SP8 mRNA	20106945
D004041	Dietary Fats	Dietary Fats results in increased expression of SP8 mRNA	25016146
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of SP8 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 decreased expression of SP8 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 decreased expression of SP8 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 SP8 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 decreased expression of SP8 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of SP8 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 decreased expression of SP8 mRNA	27188386
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SP8 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of SP8 mRNA	20655997
C412815	GW 4064	GW 4064 results in increased expression of SP8 mRNA	26655953
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of SP8 mRNA	27432991
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SP8 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of SP8 mRNA	28001369
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SP8 mRNA	20188158
D000077767	Panobinostat	Panobinostat results in decreased expression of SP8 mRNA	26272509
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 SP8 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of SP8 mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SP8 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in decreased expression of SP8 mRNA	23557933
D053260	Soot	Soot results in increased expression of SP8 mRNA	26551751
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of SP8 mRNA	25172293
D013849	Thimerosal	Thimerosal results in increased expression of SP8 mRNA	24675092
D014212	Tretinoin	Tretinoin results in decreased expression of SP8 mRNA	21934132
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 SP8 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of SP8 mRNA	22723015; 24935251; 26272509;
C012589	trichostatin A	trichostatin A results in increased expression of SP8 mRNA	24935251
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 decreased expression of SP8 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SP8 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of SP8 mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of SP8 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of SP8 mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of SP8 gene	25560391
D000077337	Vorinostat	Vorinostat results in decreased expression of SP8 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0238	DNA-binding
KW-0479	Metal-binding
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0677	Repeat
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2

Gene: SP8

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction