CleftGeneDB-Search

Gene: SOX11

Basic information

Tag	Content
Uniprot ID	P35716; Q4ZFV8;
Entrez ID	6664
Genbank protein ID	CAA51519.1; AAX88930.1; BAA88122.1; AAB08518.1;
Genbank nucleotide ID	NM_003108.3
Ensembl protein ID	ENSP00000322568
Ensembl nucleotide ID	ENSG00000176887
Gene name	Transcription factor SOX-11
Gene symbol	SOX11
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor that acts as a transcriptional activator (PubMed:24886874). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcriptional activator of TEAD2 by binding to its gene promoter and first intron (By similarity). Plays a redundant role with SOX4 and SOX12 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis (By similarity).
Sequence	MVQQAESLEA ESNLPREALD TEEGEFMACS PVALDESDPD WCKTASGHIK RPMNAFMVWS 60 KIERRKIMEQ SPDMHNAEIS KRLGKRWKML KDSEKIPFIR EAERLRLKHM ADYPDYKYRP 120 RKKPKMDPSA KPSASQSPEK SAAGGGGGSA GGGAGGAKTS KGSSKKCGKL KAPAAAGAKA 180 GAGKAAQSGD YGGAGDDYVL GSLRVSGSGG GGAGKTVKCV FLDEDDDDDD DDDELQLQIK 240 QEPDEEDEEP PHQQLLQPPG QQPSQLLRRY NVAKVPASPT LSSSAESPEG ASLYDEVRAG 300 ATSGAGGGSR LYYSFKNITK QHPPPLAQPA LSPASSRSVS TSSSSSSGSS SGSSGEDADD 360 LMFDLSLNFS QSAHSASEQQ LGGGAAAGNL SLSLVDKDLD SFSEGSLGSH FEFPDYCTPE 420 LSEMIAGDWL EANFSDLVFT Y 441

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	SOX11		A0A452FZZ0			Capra hircus	Prediction	More>>
1:1 ortholog	SOX11	6664	P35716			Homo sapiens	Prediction	More>>
1:1 ortholog	Sox11	20666	Q7M6Y2	CPO,CLP	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	SOX11	100608531	A0A2I3TNT6			Pan troglodytes	Prediction	More>>
1:1 ortholog	SOX11	100514639	F1S9L1			Sus scrofa	Prediction	More>>
1:1 ortholog	Sox11	84046	P0C1G9			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1337380916	p.Gln4Ter	stop gained	-	NC_000002.12:g.5692731C>T	gnomAD
rs755780929	p.Ala5Thr	missense variant	-	NC_000002.12:g.5692734G>A	ExAC,gnomAD
rs1273091935	p.Ala5Glu	missense variant	-	NC_000002.12:g.5692735C>A	gnomAD
COSM721451	p.Leu8Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692745G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala10Val	missense variant	-	NC_000002.12:g.5692750C>T	NCI-TCGA
rs756768286	p.Glu11Ter	stop gained	-	NC_000002.12:g.5692752G>T	ExAC,gnomAD
rs369950584	p.Glu11Asp	missense variant	-	NC_000002.12:g.5692754G>C	ESP,ExAC,TOPMed,gnomAD
rs890630265	p.Ser12Asn	missense variant	-	NC_000002.12:g.5692756G>A	TOPMed,gnomAD
rs890630265	p.Ser12Ile	missense variant	-	NC_000002.12:g.5692756G>T	TOPMed,gnomAD
rs772578286	p.Ser12Arg	missense variant	-	NC_000002.12:g.5692757C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn13Asp	missense variant	-	NC_000002.12:g.5692758A>G	NCI-TCGA
rs1164202412	p.Pro15Ser	missense variant	-	NC_000002.12:g.5692764C>T	gnomAD
rs1017699278	p.Pro15His	missense variant	-	NC_000002.12:g.5692765C>A	TOPMed,gnomAD
rs1411163388	p.Arg16Gln	missense variant	-	NC_000002.12:g.5692768G>A	gnomAD
NCI-TCGA novel	p.Arg16Leu	missense variant	-	NC_000002.12:g.5692768G>T	NCI-TCGA
rs149438305	p.Glu17Gln	missense variant	-	NC_000002.12:g.5692770G>C	ESP,ExAC,gnomAD
rs768889757	p.Ala18Val	missense variant	-	NC_000002.12:g.5692774C>T	ExAC,gnomAD
rs773428827	p.Glu22Ala	missense variant	-	NC_000002.12:g.5692786A>C	ExAC,TOPMed,gnomAD
rs765299842	p.Glu22Gln	missense variant	-	NC_000002.12:g.5692785G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly24Cys	missense variant	-	NC_000002.12:g.5692791G>T	NCI-TCGA
COSM4094943	p.Glu25Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692795A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu25Lys	missense variant	-	NC_000002.12:g.5692794G>A	NCI-TCGA
rs1363221380	p.Met27Ile	missense variant	-	NC_000002.12:g.5692802G>C	TOPMed,gnomAD
rs1481974602	p.Met27Thr	missense variant	-	NC_000002.12:g.5692801T>C	TOPMed
NCI-TCGA novel	p.Met27Arg	missense variant	-	NC_000002.12:g.5692801T>G	NCI-TCGA
NCI-TCGA novel	p.Ala28Val	missense variant	-	NC_000002.12:g.5692804C>T	NCI-TCGA
rs959309748	p.Cys29Phe	missense variant	-	NC_000002.12:g.5692807G>T	TOPMed,gnomAD
rs959309748	p.Cys29Tyr	missense variant	-	NC_000002.12:g.5692807G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro31Leu	missense variant	-	NC_000002.12:g.5692813C>T	NCI-TCGA
rs991720486	p.Val32Leu	missense variant	-	NC_000002.12:g.5692815G>T	TOPMed
NCI-TCGA novel	p.Leu34Pro	missense variant	-	NC_000002.12:g.5692822T>C	NCI-TCGA
rs752503007	p.Asp35Glu	missense variant	-	NC_000002.12:g.5692826C>G	ExAC,gnomAD
rs1316753803	p.Asp35His	missense variant	-	NC_000002.12:g.5692824G>C	TOPMed
rs1242668001	p.Ser37Asn	missense variant	-	NC_000002.12:g.5692831G>A	gnomAD
rs1476324230	p.Asp38Gly	missense variant	-	NC_000002.12:g.5692834A>G	gnomAD
NCI-TCGA novel	p.Asp40Tyr	missense variant	-	NC_000002.12:g.5692839G>T	NCI-TCGA
COSM1227167	p.Ala45Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692855C>T	NCI-TCGA Cosmic
COSM4434777	p.Ser46Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692858C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser46Pro	missense variant	-	NC_000002.12:g.5692857T>C	NCI-TCGA
NCI-TCGA novel	p.Lys50SerPheSerTerUnk	frameshift	-	NC_000002.12:g.5692868C>-	NCI-TCGA
COSM1021938	p.Met53Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692879T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met53Ile	missense variant	-	NC_000002.12:g.5692880G>T	NCI-TCGA
NCI-TCGA novel	p.Ala55Thr	missense variant	-	NC_000002.12:g.5692884G>A	NCI-TCGA
COSM4094944	p.Met57Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692890A>G	NCI-TCGA Cosmic
rs758858972	p.Trp59Cys	missense variant	-	NC_000002.12:g.5692898G>C	ExAC,gnomAD
RCV000128429	p.Ser60Pro	missense variant	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5692899T>C	ClinVar
rs587777480	p.Ser60Pro	missense variant	Mental retardation, autosomal dominant 27 (mrd27)	NC_000002.12:g.5692899T>C	-
rs587777480	p.Ser60Pro	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5692899T>C	UniProt,dbSNP
VAR_071461	p.Ser60Pro	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5692899T>C	UniProt
rs1305912185	p.Ile62Met	missense variant	-	NC_000002.12:g.5692907C>G	gnomAD
NCI-TCGA novel	p.Glu63Lys	missense variant	-	NC_000002.12:g.5692908G>A	NCI-TCGA
COSM1021939	p.Arg64Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692911C>T	NCI-TCGA Cosmic
RCV000483495	p.Arg64Gly	missense variant	-	NC_000002.12:g.5692911C>G	ClinVar
rs1064794702	p.Arg64Gly	missense variant	-	NC_000002.12:g.5692911C>G	-
NCI-TCGA novel	p.Lys66Asn	missense variant	-	NC_000002.12:g.5692919G>T	NCI-TCGA
rs1284756290	p.Ile67Val	missense variant	-	NC_000002.12:g.5692920A>G	gnomAD
COSM4830579	p.Gln70Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692930A>C	NCI-TCGA Cosmic
rs1448489215	p.Pro72Ser	missense variant	-	NC_000002.12:g.5692935C>T	gnomAD
COSM4846715	p.Pro72Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692935C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn76LysPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.5692946_5692947insA	NCI-TCGA
NCI-TCGA novel	p.Glu78Lys	missense variant	-	NC_000002.12:g.5692953G>A	NCI-TCGA
rs1553327809	p.Ser80Cys	missense variant	-	NC_000002.12:g.5692960C>G	-
RCV000624664	p.Ser80Cys	missense variant	Inborn genetic diseases	NC_000002.12:g.5692960C>G	ClinVar
rs202211730	p.Arg86Leu	missense variant	-	NC_000002.12:g.5692978G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys88Thr	missense variant	-	NC_000002.12:g.5692984A>C	NCI-TCGA
NCI-TCGA novel	p.Met89CysPheSerTerUnk	frameshift	-	NC_000002.12:g.5692983A>-	NCI-TCGA
rs770070167	p.Leu90Met	missense variant	-	NC_000002.12:g.5692989C>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys95Gln	missense variant	-	NC_000002.12:g.5693004A>C	NCI-TCGA
rs763158621	p.Ile96Thr	missense variant	-	NC_000002.12:g.5693008T>C	ExAC,gnomAD
RCV000735210	p.Phe98Ter	frameshift	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5693014del	ClinVar
rs1064794628	p.Arg100Gln	missense variant	-	NC_000002.12:g.5693020G>A	gnomAD
COSM3733645	p.Arg100Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693019C>T	NCI-TCGA Cosmic
RCV000481795	p.Arg100Pro	missense variant	-	NC_000002.12:g.5693020G>C	ClinVar
rs1064794628	p.Arg100Pro	missense variant	-	NC_000002.12:g.5693020G>C	gnomAD
COSM4094946	p.Ala102Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693026C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg104Trp	missense variant	-	NC_000002.12:g.5693031C>T	NCI-TCGA
NCI-TCGA novel	p.Leu105Met	missense variant	-	NC_000002.12:g.5693034C>A	NCI-TCGA
NCI-TCGA novel	p.Arg106Trp	missense variant	-	NC_000002.12:g.5693037C>T	NCI-TCGA
RCV000760282	p.Lys108Glu	missense variant	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5693043A>G	ClinVar
rs1182560635	p.Met110Ile	missense variant	-	NC_000002.12:g.5693051G>A	TOPMed
rs1280356263	p.Pro114His	missense variant	-	NC_000002.12:g.5693062C>A	gnomAD
COSM443056	p.Asp115Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693064G>T	NCI-TCGA Cosmic
rs1221789039	p.Asp115Asn	missense variant	-	NC_000002.12:g.5693064G>A	gnomAD
rs587777479	p.Tyr116Cys	missense variant	Mental retardation, autosomal dominant 27 (mrd27)	NC_000002.12:g.5693068A>G	-
rs587777479	p.Tyr116Cys	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5693068A>G	UniProt,dbSNP
VAR_071462	p.Tyr116Cys	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5693068A>G	UniProt
RCV000128428	p.Tyr116Cys	missense variant	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5693068A>G	ClinVar
NCI-TCGA novel	p.Tyr118Asn	missense variant	-	NC_000002.12:g.5693073T>A	NCI-TCGA
rs749901648	p.Arg119Gln	missense variant	-	NC_000002.12:g.5693077G>A	ExAC,gnomAD
RCV000623196	p.Arg119Pro	missense variant	Inborn genetic diseases	NC_000002.12:g.5693077G>C	ClinVar
rs749901648	p.Arg119Pro	missense variant	-	NC_000002.12:g.5693077G>C	ExAC,gnomAD
rs757949814	p.Pro120Thr	missense variant	-	NC_000002.12:g.5693079C>A	ExAC,gnomAD
COSM4094947	p.Arg121Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693082C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg121Leu	missense variant	-	NC_000002.12:g.5693083G>T	NCI-TCGA
NCI-TCGA novel	p.Pro124AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.5693084_5693085insA	NCI-TCGA
COSM4094948	p.Lys125Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693095A>G	NCI-TCGA Cosmic
rs1182148169	p.Met126Ile	missense variant	-	NC_000002.12:g.5693099G>A	gnomAD
rs1485846444	p.Met126Thr	missense variant	-	NC_000002.12:g.5693098T>C	TOPMed
rs755512766	p.Asp127Glu	missense variant	-	NC_000002.12:g.5693102C>A	ExAC,TOPMed,gnomAD
rs1471365952	p.Pro128His	missense variant	-	NC_000002.12:g.5693104C>A	gnomAD
rs573393747	p.Pro128Ser	missense variant	-	NC_000002.12:g.5693103C>T	1000Genomes,ExAC,TOPMed
rs573393747	p.Pro128Thr	missense variant	-	NC_000002.12:g.5693103C>A	1000Genomes,ExAC,TOPMed
rs1411909990	p.Ser129Trp	missense variant	-	NC_000002.12:g.5693107C>G	gnomAD
rs1462477218	p.Ala130Thr	missense variant	-	NC_000002.12:g.5693109G>A	gnomAD
rs1167697596	p.Ala130Val	missense variant	-	NC_000002.12:g.5693110C>T	gnomAD
NCI-TCGA novel	p.Ala130Asp	missense variant	-	NC_000002.12:g.5693110C>A	NCI-TCGA
rs199680382	p.Lys131Asn	missense variant	-	NC_000002.12:g.5693114G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1386272998	p.Pro132Leu	missense variant	-	NC_000002.12:g.5693116C>T	gnomAD
rs562403473	p.Ser133Arg	missense variant	-	NC_000002.12:g.5693120C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser133Thr	missense variant	-	NC_000002.12:g.5693119G>C	NCI-TCGA
rs991709110	p.Ser133Gly	missense variant	-	NC_000002.12:g.5693118A>G	TOPMed
rs374256122	p.Ala134Val	missense variant	-	NC_000002.12:g.5693122C>T	ESP,ExAC,TOPMed,gnomAD
rs374256122	p.Ala134Gly	missense variant	-	NC_000002.12:g.5693122C>G	ESP,ExAC,TOPMed,gnomAD
rs749358189	p.Ala134Thr	missense variant	-	NC_000002.12:g.5693121G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln136Arg	missense variant	-	NC_000002.12:g.5693128A>G	NCI-TCGA
NCI-TCGA novel	p.Gln136Pro	missense variant	-	NC_000002.12:g.5693128A>C	NCI-TCGA
rs1271177335	p.Lys140Glu	missense variant	-	NC_000002.12:g.5693139A>G	gnomAD
rs1355052745	p.Ser141Gly	missense variant	-	NC_000002.12:g.5693142A>G	gnomAD
rs1252271637	p.Ala142Val	missense variant	-	NC_000002.12:g.5693146C>T	gnomAD
rs1475737480	p.Gly144Ala	missense variant	-	NC_000002.12:g.5693152G>C	gnomAD
rs1251597664	p.Gly144Ser	missense variant	-	NC_000002.12:g.5693151G>A	gnomAD
rs1251597664	p.Gly144Cys	missense variant	-	NC_000002.12:g.5693151G>T	gnomAD
rs761704672	p.Gly146Ala	missense variant	-	NC_000002.12:g.5693158G>C	ExAC,gnomAD
rs761704672	p.Gly146Asp	missense variant	-	NC_000002.12:g.5693158G>A	ExAC,gnomAD
rs775298170	p.Gly147Ser	missense variant	-	NC_000002.12:g.5693160G>A	gnomAD
rs1398697866	p.Gly148Glu	missense variant	-	NC_000002.12:g.5693164G>A	TOPMed,gnomAD
rs764844599	p.Gly148Arg	missense variant	-	NC_000002.12:g.5693163G>A	ExAC,gnomAD
rs1398697866	p.Gly148Ala	missense variant	-	NC_000002.12:g.5693164G>C	TOPMed,gnomAD
rs943373465	p.Ser149Arg	missense variant	-	NC_000002.12:g.5693168C>A	TOPMed,gnomAD
rs943373465	p.Ser149Arg	missense variant	-	NC_000002.12:g.5693168C>G	TOPMed,gnomAD
rs750131174	p.Ala150Thr	missense variant	-	NC_000002.12:g.5693169G>A	ExAC,gnomAD
rs750131174	p.Ala150Ser	missense variant	-	NC_000002.12:g.5693169G>T	ExAC,gnomAD
rs1291365883	p.Ala150Glu	missense variant	-	NC_000002.12:g.5693170C>A	TOPMed,gnomAD
rs1227551760	p.Gly151Ser	missense variant	-	NC_000002.12:g.5693172G>A	gnomAD
NCI-TCGA novel	p.Gly156Ser	missense variant	-	NC_000002.12:g.5693187G>A	NCI-TCGA
rs1038912868	p.Gly156Cys	missense variant	-	NC_000002.12:g.5693187G>T	TOPMed,gnomAD
rs1190433874	p.Ala157Thr	missense variant	-	NC_000002.12:g.5693190G>A	gnomAD
rs1254711016	p.Lys158Glu	missense variant	-	NC_000002.12:g.5693193A>G	gnomAD
rs781738124	p.Gly162Ser	missense variant	-	NC_000002.12:g.5693205G>A	ExAC,gnomAD
rs1374927340	p.Ser164Asn	missense variant	-	NC_000002.12:g.5693212G>A	gnomAD
rs1474457843	p.Lys165Gln	missense variant	-	NC_000002.12:g.5693214A>C	gnomAD
rs752975676	p.Lys166Arg	missense variant	-	NC_000002.12:g.5693218A>G	ExAC,TOPMed,gnomAD
rs946669836	p.Cys167Ser	missense variant	-	NC_000002.12:g.5693221G>C	TOPMed
rs1376216339	p.Leu170Ile	missense variant	-	NC_000002.12:g.5693229C>A	gnomAD
rs1553327863	p.Lys171Ter	stop gained	-	NC_000002.12:g.5693232A>T	-
RCV000512828	p.Lys171Ter	nonsense	-	NC_000002.12:g.5693232A>T	ClinVar
rs902373698	p.Ala174Glu	missense variant	-	NC_000002.12:g.5693242C>A	TOPMed,gnomAD
rs1436393730	p.Ala174Thr	missense variant	-	NC_000002.12:g.5693241G>A	gnomAD
rs1340253906	p.Ala176Thr	missense variant	-	NC_000002.12:g.5693247G>A	gnomAD
rs1384818454	p.Ala178Pro	missense variant	-	NC_000002.12:g.5693253G>C	TOPMed
rs1297634063	p.Ala180Thr	missense variant	-	NC_000002.12:g.5693259G>A	TOPMed,gnomAD
rs1035189329	p.Ala180Glu	missense variant	-	NC_000002.12:g.5693260C>A	TOPMed,gnomAD
rs1349218134	p.Gly181Val	missense variant	-	NC_000002.12:g.5693263G>T	gnomAD
rs1420816592	p.Gly181Ser	missense variant	-	NC_000002.12:g.5693262G>A	TOPMed
rs1478438158	p.Ala182Ser	missense variant	-	NC_000002.12:g.5693265G>T	TOPMed
rs1208615367	p.Ala182Gly	missense variant	-	NC_000002.12:g.5693266C>G	gnomAD
rs894770529	p.Gly183Ser	missense variant	-	NC_000002.12:g.5693268G>A	TOPMed,gnomAD
rs894770529	p.Gly183Cys	missense variant	-	NC_000002.12:g.5693268G>T	TOPMed,gnomAD
rs1268368634	p.Lys184Arg	missense variant	-	NC_000002.12:g.5693272A>G	TOPMed
rs1195435511	p.Ala185Glu	missense variant	-	NC_000002.12:g.5693275C>A	TOPMed
rs1208248317	p.Ala186Gly	missense variant	-	NC_000002.12:g.5693278C>G	gnomAD
rs1462673426	p.Gln187His	missense variant	-	NC_000002.12:g.5693282G>C	TOPMed,gnomAD
rs1260086974	p.Gly189Arg	missense variant	-	NC_000002.12:g.5693286G>A	TOPMed
rs377528494	p.Asp190Tyr	missense variant	-	NC_000002.12:g.5693289G>T	ExAC,TOPMed,gnomAD
rs1463602758	p.Gly192Val	missense variant	-	NC_000002.12:g.5693296G>T	gnomAD
rs745988357	p.Gly193Asp	missense variant	-	NC_000002.12:g.5693299G>A	ExAC,gnomAD
rs779081464	p.Gly193Ser	missense variant	-	NC_000002.12:g.5693298G>A	ExAC,gnomAD
rs1171980257	p.Ala194Thr	missense variant	-	NC_000002.12:g.5693301G>A	TOPMed,gnomAD
rs1454109830	p.Gly195Asp	missense variant	-	NC_000002.12:g.5693305G>A	TOPMed,gnomAD
rs1376928154	p.Gly195Ser	missense variant	-	NC_000002.12:g.5693304G>A	gnomAD
rs544581532	p.Asp196Glu	missense variant	-	NC_000002.12:g.5693309C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs544581532	p.Asp196Glu	missense variant	-	NC_000002.12:g.5693309C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776676775	p.Asp196Asn	missense variant	-	NC_000002.12:g.5693307G>A	ExAC,gnomAD
rs776676775	p.Asp196Tyr	missense variant	-	NC_000002.12:g.5693307G>T	ExAC,gnomAD
rs564494780	p.Asp197His	missense variant	-	NC_000002.12:g.5693310G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs564494780	p.Asp197Asn	missense variant	-	NC_000002.12:g.5693310G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000414399	p.Tyr198Ter	nonsense	-	NC_000002.12:g.5693315C>A	ClinVar
rs1057518187	p.Tyr198Ter	stop gained	-	NC_000002.12:g.5693315C>A	-
rs766041973	p.Tyr198Cys	missense variant	-	NC_000002.12:g.5693314A>G	ExAC,gnomAD
rs773695032	p.Val199Leu	missense variant	-	NC_000002.12:g.5693316G>C	ExAC,TOPMed,gnomAD
rs753307477	p.Leu203Met	missense variant	-	NC_000002.12:g.5693328C>A	ExAC,gnomAD
rs753307477	p.Leu203Val	missense variant	-	NC_000002.12:g.5693328C>G	ExAC,gnomAD
rs764489337	p.Arg204Pro	missense variant	-	NC_000002.12:g.5693332G>C	ExAC,gnomAD
rs764489337	p.Arg204Leu	missense variant	-	NC_000002.12:g.5693332G>T	ExAC,gnomAD
rs756544888	p.Arg204Cys	missense variant	-	NC_000002.12:g.5693331C>T	ExAC,gnomAD
rs1479245018	p.Val205Gly	missense variant	-	NC_000002.12:g.5693335T>G	TOPMed
rs1208628926	p.Val205Met	missense variant	-	NC_000002.12:g.5693334G>A	gnomAD
rs1468575248	p.Gly207Arg	missense variant	-	NC_000002.12:g.5693340G>C	gnomAD
NCI-TCGA novel	p.Gly207Ser	missense variant	-	NC_000002.12:g.5693340G>A	NCI-TCGA
rs1469878578	p.Ser208Leu	missense variant	-	NC_000002.12:g.5693344C>T	gnomAD
rs1189755341	p.Gly209Asp	missense variant	-	NC_000002.12:g.5693347G>A	gnomAD
rs748010810	p.Gly210Cys	missense variant	-	NC_000002.12:g.5693349G>T	ExAC,TOPMed,gnomAD
rs748010810	p.Gly210Arg	missense variant	-	NC_000002.12:g.5693349G>C	ExAC,TOPMed,gnomAD
rs1456675614	p.Gly212Asp	missense variant	-	NC_000002.12:g.5693356G>A	gnomAD
rs1409457496	p.Gly212Ser	missense variant	-	NC_000002.12:g.5693355G>A	gnomAD
rs770541398	p.Ala213Glu	missense variant	-	NC_000002.12:g.5693359C>A	ExAC,gnomAD
rs1438003053	p.Gly214Asp	missense variant	-	NC_000002.12:g.5693362G>A	gnomAD
rs1373555541	p.Thr216Met	missense variant	-	NC_000002.12:g.5693368C>T	gnomAD
rs1309670314	p.Val217Ala	missense variant	-	NC_000002.12:g.5693371T>C	gnomAD
rs758958162	p.Val220Met	missense variant	-	NC_000002.12:g.5693379G>A	ExAC,TOPMed,gnomAD
rs1228396860	p.Asp223Asn	missense variant	-	NC_000002.12:g.5693388G>A	TOPMed,gnomAD
rs767125292	p.Asp225Gly	missense variant	-	NC_000002.12:g.5693395A>G	ExAC,TOPMed,gnomAD
rs1337057292	p.Asp226Glu	missense variant	-	NC_000002.12:g.5693399C>A	gnomAD
rs774871082	p.Asp227Asn	missense variant	-	NC_000002.12:g.5693400G>A	ExAC,TOPMed,gnomAD
rs774871082	p.Asp227His	missense variant	-	NC_000002.12:g.5693400G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp227Glu	missense variant	-	NC_000002.12:g.5693402C>A	NCI-TCGA
rs761209390	p.Asp227Glu	missense variant	-	NC_000002.12:g.5693402C>G	ExAC,gnomAD
rs764724459	p.Asp228Glu	missense variant	-	NC_000002.12:g.5693405C>A	ExAC,gnomAD
rs764724459	p.Asp228Glu	missense variant	-	NC_000002.12:g.5693405C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp228Asn	missense variant	-	NC_000002.12:g.5693403G>A	NCI-TCGA
rs1179136145	p.Asp230Asn	missense variant	-	NC_000002.12:g.5693409G>A	gnomAD
rs754220187	p.Asp230Val	missense variant	-	NC_000002.12:g.5693410A>T	ExAC,gnomAD
rs757741965	p.Asp230Glu	missense variant	-	NC_000002.12:g.5693411C>A	ExAC,gnomAD
rs765361062	p.Asp231Gly	missense variant	-	NC_000002.12:g.5693413A>G	ExAC,gnomAD
rs750721557	p.Asp231Glu	missense variant	-	NC_000002.12:g.5693414C>A	ExAC,TOPMed,gnomAD
rs1403124561	p.Asp232Asn	missense variant	-	NC_000002.12:g.5693415G>A	TOPMed,gnomAD
rs1042297449	p.Asp233Asn	missense variant	-	NC_000002.12:g.5693418G>A	TOPMed,gnomAD
rs1354586764	p.Asp233Glu	missense variant	-	NC_000002.12:g.5693420C>A	TOPMed,gnomAD
rs1354586764	p.Asp233Glu	missense variant	-	NC_000002.12:g.5693420C>G	TOPMed,gnomAD
rs1042297449	p.Asp233His	missense variant	-	NC_000002.12:g.5693418G>C	TOPMed,gnomAD
rs780122780	p.Glu234Gln	missense variant	-	NC_000002.12:g.5693421G>C	ExAC,gnomAD
rs751660162	p.Glu234Gly	missense variant	-	NC_000002.12:g.5693422A>G	ExAC,TOPMed,gnomAD
rs756004827	p.Leu235Met	missense variant	-	NC_000002.12:g.5693424C>A	ExAC,TOPMed,gnomAD
rs140772793	p.Leu237Val	missense variant	-	NC_000002.12:g.5693430C>G	ESP,ExAC,TOPMed,gnomAD
rs1226706343	p.Leu237Gln	missense variant	-	NC_000002.12:g.5693431T>A	TOPMed,gnomAD
RCV000500849	p.Leu237Val	missense variant	-	NC_000002.12:g.5693430C>G	ClinVar
rs1256714607	p.Gln238His	missense variant	-	NC_000002.12:g.5693435G>C	TOPMed
COSM6158313	p.Gln238Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693433C>A	NCI-TCGA Cosmic
rs778428159	p.Lys240Arg	missense variant	-	NC_000002.12:g.5693440A>G	ExAC,TOPMed
rs745460988	p.Gln241Arg	missense variant	-	NC_000002.12:g.5693443A>G	ExAC,gnomAD
rs1206958743	p.Glu242Gln	missense variant	-	NC_000002.12:g.5693445G>C	gnomAD
rs771639613	p.Pro243Ala	missense variant	-	NC_000002.12:g.5693448C>G	ExAC,gnomAD
rs769259145	p.Asp244Glu	missense variant	-	NC_000002.12:g.5693453C>G	ExAC,TOPMed,gnomAD
rs769259145	p.Asp244Glu	missense variant	-	NC_000002.12:g.5693453C>A	ExAC,TOPMed,gnomAD
rs760297024	p.Asp244Asn	missense variant	-	NC_000002.12:g.5693451G>A	ExAC,gnomAD
rs1471796361	p.Glu245Lys	missense variant	-	NC_000002.12:g.5693454G>A	TOPMed,gnomAD
rs1471796361	p.Glu245Gln	missense variant	-	NC_000002.12:g.5693454G>C	TOPMed,gnomAD
rs755851269	p.Asp247Tyr	missense variant	-	NC_000002.12:g.5693460G>T	ExAC,gnomAD
rs765568135	p.Glu248Lys	missense variant	-	NC_000002.12:g.5693463G>A	ExAC,gnomAD
rs765568135	p.Glu248Gln	missense variant	-	NC_000002.12:g.5693463G>C	ExAC,gnomAD
rs1166348174	p.Glu249Lys	missense variant	-	NC_000002.12:g.5693466G>A	gnomAD
rs1355135739	p.Pro250Thr	missense variant	-	NC_000002.12:g.5693469C>A	TOPMed
rs1313818654	p.Pro251Gln	missense variant	-	NC_000002.12:g.5693473C>A	gnomAD
rs1429550919	p.Pro251Thr	missense variant	-	NC_000002.12:g.5693472C>A	gnomAD
rs1362764728	p.Gln254Lys	missense variant	-	NC_000002.12:g.5693481C>A	gnomAD
rs1281925996	p.Leu255Phe	missense variant	-	NC_000002.12:g.5693484C>T	TOPMed
rs755100945	p.Pro258Thr	missense variant	-	NC_000002.12:g.5693493C>A	ExAC,TOPMed,gnomAD
rs868349180	p.Pro258Gln	missense variant	-	NC_000002.12:g.5693494C>A	gnomAD
rs866041767	p.Pro259Leu	missense variant	-	NC_000002.12:g.5693497C>T	TOPMed,gnomAD
rs757148387	p.Gly260Glu	missense variant	-	NC_000002.12:g.5693500G>A	ExAC,gnomAD
rs1186080588	p.Gln261Ter	stop gained	-	NC_000002.12:g.5693502C>T	TOPMed,gnomAD
rs1186080588	p.Gln261Lys	missense variant	-	NC_000002.12:g.5693502C>A	TOPMed,gnomAD
rs745675837	p.Pro263Thr	missense variant	-	NC_000002.12:g.5693508C>A	ExAC,gnomAD
rs779898240	p.Pro263Leu	missense variant	-	NC_000002.12:g.5693509C>T	ExAC,gnomAD
rs745675837	p.Pro263Ser	missense variant	-	NC_000002.12:g.5693508C>T	ExAC,gnomAD
rs1553327954	p.Ser264Ter	stop gained	-	NC_000002.12:g.5693512C>A	-
RCV000623171	p.Ser264Ter	nonsense	Inborn genetic diseases	NC_000002.12:g.5693512C>A	ClinVar
rs762321557	p.Leu267Gln	missense variant	-	NC_000002.12:g.5693521T>A	ExAC,gnomAD
rs770223329	p.Arg269His	missense variant	-	NC_000002.12:g.5693527G>A	ExAC,gnomAD
rs1437389899	p.Tyr270His	missense variant	-	NC_000002.12:g.5693529T>C	gnomAD
rs1364504443	p.Asn271His	missense variant	-	NC_000002.12:g.5693532A>C	gnomAD
rs763266934	p.Val272Leu	missense variant	-	NC_000002.12:g.5693535G>C	ExAC,gnomAD
rs1276818965	p.Ala273Ser	missense variant	-	NC_000002.12:g.5693538G>T	TOPMed,gnomAD
rs1276818965	p.Ala273Pro	missense variant	-	NC_000002.12:g.5693538G>C	TOPMed,gnomAD
rs1218359229	p.Pro276Ser	missense variant	-	NC_000002.12:g.5693547C>T	gnomAD
rs1284912385	p.Thr280Met	missense variant	-	NC_000002.12:g.5693560C>T	gnomAD
rs1246927388	p.Ser282Asn	missense variant	-	NC_000002.12:g.5693566G>A	gnomAD
rs971298974	p.Ser287Pro	missense variant	-	NC_000002.12:g.5693580T>C	gnomAD
rs971298974	p.Ser287Thr	missense variant	-	NC_000002.12:g.5693580T>A	gnomAD
rs765121971	p.Ala291Glu	missense variant	-	NC_000002.12:g.5693593C>A	ExAC,gnomAD
rs765121971	p.Ala291Gly	missense variant	-	NC_000002.12:g.5693593C>G	ExAC,gnomAD
rs1388073236	p.Asp295Glu	missense variant	-	NC_000002.12:g.5693606C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp295Val	missense variant	-	NC_000002.12:g.5693605A>T	NCI-TCGA
rs1441654871	p.Glu296Ter	stop gained	-	NC_000002.12:g.5693607G>T	gnomAD
rs779845221	p.Val297Ala	missense variant	-	NC_000002.12:g.5693611T>C	ExAC,gnomAD
rs1435531266	p.Arg298Gln	missense variant	-	NC_000002.12:g.5693614G>A	gnomAD
rs780798415	p.Ala301Glu	missense variant	-	NC_000002.12:g.5693623C>A	ExAC,TOPMed,gnomAD
rs780798415	p.Ala301Val	missense variant	-	NC_000002.12:g.5693623C>T	ExAC,TOPMed,gnomAD
rs780798415	p.Ala301Gly	missense variant	-	NC_000002.12:g.5693623C>G	ExAC,TOPMed,gnomAD
rs1267359699	p.Thr302Ile	missense variant	-	NC_000002.12:g.5693626C>T	gnomAD
rs1252447458	p.Ser303Leu	missense variant	-	NC_000002.12:g.5693629C>T	gnomAD
rs1334919509	p.Ser303Thr	missense variant	-	NC_000002.12:g.5693628T>A	gnomAD
rs1287329032	p.Gly304Cys	missense variant	-	NC_000002.12:g.5693631G>T	gnomAD
rs773641572	p.Ala305Pro	missense variant	-	NC_000002.12:g.5693634G>C	ExAC,gnomAD
rs773641572	p.Ala305Ser	missense variant	-	NC_000002.12:g.5693634G>T	ExAC,gnomAD
rs1476800720	p.Gly307Val	missense variant	-	NC_000002.12:g.5693641G>T	TOPMed
rs1180668384	p.Gly307Cys	missense variant	-	NC_000002.12:g.5693640G>T	TOPMed,gnomAD
rs759699166	p.Gly308Ser	missense variant	-	NC_000002.12:g.5693643G>A	ExAC,gnomAD
rs1388644510	p.Ser309Asn	missense variant	-	NC_000002.12:g.5693647G>A	TOPMed,gnomAD
rs767752007	p.Ser309Cys	missense variant	-	NC_000002.12:g.5693646A>T	ExAC,gnomAD
rs775602980	p.Arg310His	missense variant	-	NC_000002.12:g.5693650G>A	ExAC,gnomAD
rs760713336	p.Leu311His	missense variant	-	NC_000002.12:g.5693653T>A	ExAC,gnomAD
rs1287678940	p.Ile318Met	missense variant	-	NC_000002.12:g.5693675C>G	gnomAD
rs1355953682	p.Lys320Gln	missense variant	-	NC_000002.12:g.5693679A>C	gnomAD
rs1246870502	p.Gln321Ter	stop gained	-	NC_000002.12:g.5693682C>T	gnomAD
RCV000627527	p.His322Ter	frameshift	-	NC_000002.12:g.5693686_5693704del	ClinVar
rs1355029618	p.Pro323Arg	missense variant	-	NC_000002.12:g.5693689C>G	gnomAD
rs1276263281	p.Pro324Leu	missense variant	-	NC_000002.12:g.5693692C>T	gnomAD
NCI-TCGA novel	p.Ala330Thr	missense variant	-	NC_000002.12:g.5693709G>A	NCI-TCGA
rs747671372	p.Ala330Val	missense variant	-	NC_000002.12:g.5693710C>T	ExAC,gnomAD
rs1481369496	p.Leu331Arg	missense variant	-	NC_000002.12:g.5693713T>G	TOPMed,gnomAD
rs1472474340	p.Ser332Leu	missense variant	-	NC_000002.12:g.5693716C>T	TOPMed,gnomAD
rs749826506	p.Ala334Val	missense variant	-	NC_000002.12:g.5693722C>T	ExAC,TOPMed,gnomAD
rs774743661	p.Ser335Cys	missense variant	-	NC_000002.12:g.5693725C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser335Thr	missense variant	-	NC_000002.12:g.5693724T>A	NCI-TCGA
rs1375803449	p.Ser336Leu	missense variant	-	NC_000002.12:g.5693728C>T	gnomAD
rs772309412	p.Arg337Leu	missense variant	-	NC_000002.12:g.5693731G>T	ExAC,TOPMed,gnomAD
rs772309412	p.Arg337His	missense variant	-	NC_000002.12:g.5693731G>A	ExAC,TOPMed,gnomAD
rs1339382294	p.Ser338Leu	missense variant	-	NC_000002.12:g.5693734C>T	gnomAD
rs1227439657	p.Val339Met	missense variant	-	NC_000002.12:g.5693736G>A	gnomAD
rs1339574821	p.Ser343Trp	missense variant	-	NC_000002.12:g.5693749C>G	gnomAD
rs775521809	p.Ser344Thr	missense variant	-	NC_000002.12:g.5693751T>A	ExAC,gnomAD
rs1483782583	p.Ser345Arg	missense variant	-	NC_000002.12:g.5693756C>A	TOPMed,gnomAD
rs1274427173	p.Ser345Asn	missense variant	-	NC_000002.12:g.5693755G>A	gnomAD
rs760818536	p.Ser347Arg	missense variant	-	NC_000002.12:g.5693762C>G	ExAC,TOPMed,gnomAD
rs1202768939	p.Ser347Gly	missense variant	-	NC_000002.12:g.5693760A>G	gnomAD
rs1409527492	p.Ser350Arg	missense variant	-	NC_000002.12:g.5693771C>G	gnomAD
rs766389339	p.Gly352Val	missense variant	-	NC_000002.12:g.5693776G>T	ExAC,gnomAD
rs776762311	p.Gly352Arg	missense variant	-	NC_000002.12:g.5693775G>C	ExAC,TOPMed,gnomAD
rs776762311	p.Gly352Cys	missense variant	-	NC_000002.12:g.5693775G>T	ExAC,TOPMed,gnomAD
rs776762311	p.Gly352Ser	missense variant	-	NC_000002.12:g.5693775G>A	ExAC,TOPMed,gnomAD
rs1447931988	p.Ser353Asn	missense variant	-	NC_000002.12:g.5693779G>A	gnomAD
rs1395519132	p.Gly355Asp	missense variant	-	NC_000002.12:g.5693785G>A	gnomAD
rs751432316	p.Gly355Ser	missense variant	-	NC_000002.12:g.5693784G>A	ExAC,gnomAD
rs767290813	p.Asp357His	missense variant	-	NC_000002.12:g.5693790G>C	ExAC,gnomAD
rs767290813	p.Asp357Asn	missense variant	-	NC_000002.12:g.5693790G>A	ExAC,gnomAD
rs1362366101	p.Met362Val	missense variant	-	NC_000002.12:g.5693805A>G	gnomAD
rs1403614666	p.Phe363Leu	missense variant	-	NC_000002.12:g.5693810C>G	gnomAD
rs974822756	p.Ser366Cys	missense variant	-	NC_000002.12:g.5693817A>T	TOPMed
rs1313151836	p.Phe369Leu	missense variant	-	NC_000002.12:g.5693828C>A	gnomAD
rs991368727	p.Ser370Phe	missense variant	-	NC_000002.12:g.5693830C>T	TOPMed
rs1235827793	p.Ser372Arg	missense variant	-	NC_000002.12:g.5693837C>A	gnomAD
rs1344979183	p.His374Arg	missense variant	-	NC_000002.12:g.5693842A>G	gnomAD
rs1377727959	p.Ser375Arg	missense variant	-	NC_000002.12:g.5693846C>G	TOPMed
rs1449180406	p.Ser375Asn	missense variant	-	NC_000002.12:g.5693845G>A	TOPMed
rs1209872000	p.Ala376Ser	missense variant	-	NC_000002.12:g.5693847G>T	gnomAD
rs762687158	p.Ser377Arg	missense variant	-	NC_000002.12:g.5693852C>G	TOPMed,gnomAD
rs757798729	p.Gln380Leu	missense variant	-	NC_000002.12:g.5693860A>T	ExAC,gnomAD
rs1188178837	p.Leu381Arg	missense variant	-	NC_000002.12:g.5693863T>G	TOPMed,gnomAD
rs1188178837	p.Leu381Pro	missense variant	-	NC_000002.12:g.5693863T>C	TOPMed,gnomAD
rs1173636535	p.Gly383Asp	missense variant	-	NC_000002.12:g.5693869G>A	gnomAD
NCI-TCGA novel	p.Gly384ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.5693863_5693864insG	NCI-TCGA
RCV000412808	p.Ala385Ter	frameshift	-	NC_000002.12:g.5693874_5693881del	ClinVar
NCI-TCGA novel	p.Ala385Val	missense variant	-	NC_000002.12:g.5693875C>T	NCI-TCGA
rs1454287063	p.Ala386Gly	missense variant	-	NC_000002.12:g.5693878C>G	gnomAD
RCV000623189	p.Asn389Ter	frameshift	Inborn genetic diseases	NC_000002.12:g.5693885_5693897del	ClinVar
rs1189353231	p.Lys397Thr	missense variant	-	NC_000002.12:g.5693911A>C	gnomAD
COSM1565527	p.Asp398Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693913G>T	NCI-TCGA Cosmic
rs1482580454	p.Asp400Asn	missense variant	-	NC_000002.12:g.5693919G>A	TOPMed
rs1229609930	p.Ser401Leu	missense variant	-	NC_000002.12:g.5693923C>T	gnomAD
rs1212106612	p.Phe402Leu	missense variant	-	NC_000002.12:g.5693925T>C	TOPMed
rs1208145337	p.Ser403Arg	missense variant	-	NC_000002.12:g.5693930C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser406Ile	missense variant	-	NC_000002.12:g.5693938G>T	NCI-TCGA
rs1189662451	p.His410Asn	missense variant	-	NC_000002.12:g.5693949C>A	gnomAD
rs1428529342	p.Phe411Ile	missense variant	-	NC_000002.12:g.5693952T>A	gnomAD
rs1266498989	p.Glu412Lys	missense variant	-	NC_000002.12:g.5693955G>A	gnomAD
COSM35844	p.Glu412Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.5693955G>T	NCI-TCGA Cosmic
COSM1408744	p.Tyr416Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693968A>G	NCI-TCGA Cosmic
rs1317674231	p.Cys417Ser	missense variant	-	NC_000002.12:g.5693970T>A	TOPMed
rs1409607021	p.Glu423Lys	missense variant	-	NC_000002.12:g.5693988G>A	gnomAD
NCI-TCGA novel	p.Ile425Leu	missense variant	-	NC_000002.12:g.5693994A>C	NCI-TCGA
rs761946808	p.Ala426Gly	missense variant	-	NC_000002.12:g.5693998C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala426Val	missense variant	-	NC_000002.12:g.5693998C>T	NCI-TCGA
rs774373152	p.Asp428Tyr	missense variant	-	NC_000002.12:g.5694003G>T	ExAC,gnomAD
rs1394318840	p.Trp429Arg	missense variant	-	NC_000002.12:g.5694006T>A	TOPMed
NCI-TCGA novel	p.Trp429Ser	missense variant	-	NC_000002.12:g.5694007G>C	NCI-TCGA
RCV000414848	p.Trp429Ter	nonsense	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5694007G>A	ClinVar
rs1057518672	p.Trp429Ter	stop gained	-	NC_000002.12:g.5694007G>A	-
rs759409441	p.Glu431Gly	missense variant	-	NC_000002.12:g.5694013A>G	ExAC,gnomAD
rs767281459	p.Ala432Gly	missense variant	-	NC_000002.12:g.5694016C>G	ExAC
rs767281459	p.Ala432Val	missense variant	-	NC_000002.12:g.5694016C>T	ExAC
rs1390480045	p.Ala432Thr	missense variant	-	NC_000002.12:g.5694015G>A	gnomAD
NCI-TCGA novel	p.Phe434Leu	missense variant	-	NC_000002.12:g.5694023C>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0004114	Astrocytoma	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009363	Congenital ocular coloboma (disorder)	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0010606	Adenoid Cystic Carcinoma	disease	CTD_human
C0010964	Dandy-Walker Syndrome	disease	HPO
C0011053	Deafness	phenotype	HPO
C0013080	Down Syndrome	disease	BEFREE
C0014474	Ependymoma	disease	BEFREE
C0014544	Epilepsy	disease	BEFREE;HPO
C0015397	Disorder of eye	group	BEFREE
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018798	Congenital Heart Defects	group	BEFREE;HPO
C0019829	Hodgkin Disease	disease	BEFREE
C0020555	Hypertrichosis	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0021364	Male infertility	disease	LHGDN
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023443	Hairy Cell Leukemia	disease	BEFREE
C0023448	Lymphoid leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024433	Macrostomia	disease	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025958	Microcephaly	disease	BEFREE
C0026010	Microphthalmos	disease	BEFREE
C0026106	Mild Mental Retardation	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0026827	Muscle hypotonia	phenotype	HPO
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0028738	Nystagmus	disease	HPO
C0029925	Ovarian Carcinoma	disease	BEFREE
C0031900	Pierre Robin Syndrome	disease	BEFREE;MGD
C0036095	Salivary Gland Neoplasms	group	CTD_human
C0036572	Seizures	phenotype	HPO
C0037932	Curvature of spine	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0040136	Thyroid Neoplasm	disease	BEFREE
C0079218	Fibromatosis, Aggressive	disease	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0220636	Malignant neoplasm of salivary gland	disease	CTD_human
C0239234	Low set ears	phenotype	HPO
C0240379	Open mouth (finding)	phenotype	HPO
C0242596	Neoplasm, Residual	phenotype	BEFREE
C0262444	Abnormality of the dentition	phenotype	HPO
C0265338	Coffin-Siris syndrome	disease	BEFREE;ORPHANET
C0265610	Congenital clinodactyly	disease	HPO
C0266617	Congenital anomaly of face	group	HPO
C0266667	Cyclocephaly	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0423112	Short palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424503	Dysmorphic facies	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0431478	Posteriorly rotated ear	disease	HPO
C0549473	Thyroid carcinoma	disease	BEFREE
C0555198	Malignant Glioma	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0576962	Tooth problem	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0598798	Lymphoid neoplasm	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0679427	myeloblastosis	disease	BEFREE
C0685869	Monophthalmos	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0751291	Desmoplastic Medulloblastoma	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1302547	Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1385263	Deformity of face	phenotype	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1403299	Radiohumeral dislocation	phenotype	HPO
C1403321	Ulnohumeral dislocation	phenotype	HPO
C1527349	Ductal Breast Carcinoma	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1704272	Benign Prostatic Hyperplasia	disease	BEFREE
C1832348	Slow-growing hair	phenotype	HPO
C1834055	Underdeveloped nasal alae	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836543	Thick vermilion border	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1839323	Small chin	phenotype	HPO
C1839739	Thick lower lip vermilion	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1839798	Long nose	phenotype	HPO
C1839829	Short distal phalanx of finger	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1845847	Coarse facial features	phenotype	HPO
C1849211	Generalized hirsutism	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853246	Everted lower lip vermilion	phenotype	HPO
C1853487	Thick eyebrow	phenotype	HPO
C1853738	Long eyelashes	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1861324	Short philtrum	phenotype	HPO
C1861869	Underdeveloped supraorbital ridges	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1866231	Full cheeks	phenotype	HPO
C1866234	Protruding lower lip	phenotype	HPO
C1868571	Highly arched eyebrow	phenotype	HPO
C1868577	Patella aplasia-hypoplasia	phenotype	HPO
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE
C2053437	Full lower lip	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2720437	Dislocation of elbow joint	phenotype	HPO
C2748653	Chubby cheeks	phenotype	HPO
C2981150	Uranostaphyloschisis	disease	BEFREE
C3279222	Aplasia/Hypoplasia of the cerebellum	phenotype	HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3553764	Joint hyperflexibility	phenotype	HPO
C3697248	Short lower third of face	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3806443	Puffy cheeks	phenotype	HPO
C3806482	Recurrent respiratory infections	phenotype	HPO
C4014528	MENTAL RETARDATION, AUTOSOMAL DOMINANT 27	disease	CLINVAR;CTD_human;UNIPROT
C4020777	Underdeveloped brows	phenotype	HPO
C4020849	Bowed and upward slanting eyebrows	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021637	Abnormality of the nares	phenotype	HPO
C4023116	Hypoplastic fifth toenail	phenotype	HPO
C4024158	Abnormality of the columella	phenotype	HPO
C4024507	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	phenotype	HPO
C4024682	Hypoplastic fifth fingernail	phenotype	HPO
C4049796	Abnormality of cardiovascular system morphology	disease	HPO
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4072832	Distortion of face	phenotype	HPO
C4072833	Funny looking face	phenotype	HPO
C4280304	Curvature of digit	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280647	Hypertrophy of cheeks	phenotype	HPO
C4280648	Hyperplasia of cheeks	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000987	cis-regulatory region sequence-specific DNA binding	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0003713	transcription coactivator activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001501	skeletal system development	ISS
GO:0001822	kidney development	IEA
GO:0001841	neural tube formation	ISS
GO:0002089	lens morphogenesis in camera-type eye	ISS
GO:0003151	outflow tract morphogenesis	ISS
GO:0003211	cardiac ventricle formation	ISS
GO:0003357	noradrenergic neuron differentiation	ISS
GO:0006355	regulation of transcription, DNA-templated	IBA
GO:0008284	positive regulation of cell population proliferation	ISS
GO:0009653	anatomical structure morphogenesis	IBA
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	IMP
GO:0014003	oligodendrocyte development	IEA
GO:0014009	glial cell proliferation	ISS
GO:0014032	neural crest cell development	ISS
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEP
GO:0021510	spinal cord development	ISS
GO:0021782	glial cell development	ISS
GO:0030154	cell differentiation	IBA
GO:0030182	neuron differentiation	IEP
GO:0030182	neuron differentiation	IBA
GO:0030513	positive regulation of BMP signaling pathway	ISS
GO:0035332	positive regulation of hippo signaling	ISS
GO:0035914	skeletal muscle cell differentiation	IEA
GO:0045666	positive regulation of neuron differentiation	IMP
GO:0045669	positive regulation of osteoblast differentiation	IMP
GO:0045778	positive regulation of ossification	IMP
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0046887	positive regulation of hormone secretion	ISS
GO:0048485	sympathetic nervous system development	ISS
GO:0048557	embryonic digestive tract morphogenesis	ISS
GO:0048704	embryonic skeletal system morphogenesis	ISS
GO:0050672	negative regulation of lymphocyte proliferation	IMP
GO:0050769	positive regulation of neurogenesis	ISS
GO:0060022	hard palate development	ISS
GO:0060023	soft palate development	ISS
GO:0060174	limb bud formation	ISS
GO:0060253	negative regulation of glial cell proliferation	IMP
GO:0060412	ventricular septum morphogenesis	ISS
GO:0060425	lung morphogenesis	ISS
GO:0060548	negative regulation of cell death	ISS
GO:0060563	neuroepithelial cell differentiation	ISS
GO:0061029	eyelid development in camera-type eye	ISS
GO:0061053	somite development	ISS
GO:0061303	cornea development in camera-type eye	ISS
GO:0061386	closure of optic fissure	ISS
GO:0072395	signal transduction involved in cell cycle checkpoint	IEP
GO:2000648	positive regulation of stem cell proliferation	IMP
GO:2000678	negative regulation of transcription regulatory region DNA binding	ISS
GO:2001111	positive regulation of lens epithelial cell proliferation	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0044798	nuclear transcription factor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of SOX11 mRNA	19933214
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SOX11 mRNA	25510870
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SOX11 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SOX11 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SOX11 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SOX11 mRNA	25510870
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in increased expression of SOX11 mRNA	25088246
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of SOX11 mRNA	12958071
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 SOX11 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 decreased expression of SOX11 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 SOX11 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 SOX11 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 SOX11 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SOX11 mRNA	20382639
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of SOX11 gene	27153756
C000188	alachlor	alachlor results in increased expression of SOX11 mRNA	12419858
D000639	Amitriptyline	Amitriptyline results in increased expression of SOX11 mRNA	22341215
D001151	Arsenic	Arsenic results in decreased expression of SOX11 mRNA	19654921
C015001	arsenite	arsenite results in increased methylation of SOX11 promoter	23974009
D001205	Ascorbic Acid	Ascorbic Acid results in decreased expression of SOX11 mRNA	15372504
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SOX11 mRNA	21569818
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of SOX11 mRNA	26377693
C044887	beta-methylcholine	beta-methylcholine affects the expression of SOX11 mRNA	21179406
C006780	bisphenol A	bisphenol A results in decreased expression of SOX11 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of SOX11 mRNA	30816183
D002166	Camptothecin	Camptothecin results in increased methylation of SOX11 gene	30720231
C099555	CD 437	CD 437 results in decreased expression of SOX11 mRNA	12958071
D002737	Chloroprene	Chloroprene results in decreased expression of SOX11 mRNA	23125180
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SOX11 gene	20938992
D002945	Cisplatin	Cisplatin affects the expression of SOX11 mRNA	23300844
D002990	Clobetasol	Clobetasol results in decreased expression of SOX11 mRNA	27462272
D002994	Clofibrate	Clofibrate results in decreased expression of SOX11 mRNA	17585979
D003471	Cuprizone	Cuprizone results in decreased expression of SOX11 mRNA	26577399
D000077209	Decitabine	Decitabine affects the expression of SOX11 mRNA	23300844
D003907	Dexamethasone	Dexamethasone results in decreased expression of SOX11 mRNA	22733784
D003907	Dexamethasone	Dexamethasone results in decreased expression of SOX11 mRNA	20032058
D003907	Dexamethasone	Testosterone inhibits the reaction [Dexamethasone results in decreased expression of SOX11 mRNA]	20032058
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of SOX11 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in decreased expression of SOX11 mRNA	18503570
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of SOX11 mRNA	26924002
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 SOX11 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 decreased expression of SOX11 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 SOX11 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 SOX11 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 SOX11 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of SOX11 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 SOX11 mRNA	27188386
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of SOX11 mRNA	17404688
D004958	Estradiol	ESR1 protein promotes the reaction [Estradiol results in increased expression of SOX11 mRNA]	25210133
D004958	Estradiol	Estradiol affects the expression of SOX11 mRNA	15598610; 25210133;
D005419	Flavonoids	Flavonoids results in increased expression of SOX11 mRNA	18035473
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SOX11 gene	20938992
D005839	Gentamicins	Gentamicins results in decreased expression of SOX11 mRNA	22061828
D006108	Graphite	Graphite affects the expression of SOX11 mRNA	29933104
C031927	hydroquinone	hydroquinone results in decreased expression of SOX11 mRNA	31256213
D007649	Ketamine	Ketamine results in decreased expression of SOX11 mRNA	20080153
C018584	linalool	linalool results in increased expression of SOX11 mRNA	20536181
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SOX11 gene	20938992
D008774	Methylphenidate	Methylphenidate results in increased expression of SOX11 mRNA	22470460
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of SOX11 mRNA	26924002
C523799	MRK 003	SOX11 results in decreased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SOX11 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SOX11 mRNA	25554681
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of SOX11 mRNA	20188158
D010100	Oxygen	Oxygen deficiency results in increased expression of SOX11 mRNA	24205000
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 decreased expression of SOX11 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of SOX11 mRNA	26272509
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SOX11 mRNA	25510870
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 SOX11 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of SOX11 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in increased expression of SOX11 mRNA	20813756
D010936	Plant Extracts	Plant Extracts results in decreased expression of SOX11 mRNA	23557933
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of SOX11 mRNA	17404688
D011374	Progesterone	Progesterone results in decreased expression of SOX11 mRNA	17404688
D011441	Propylthiouracil	Propylthiouracil results in increased expression of SOX11 mRNA	24780913
C043680	ptaquiloside	ptaquiloside results in decreased expression of SOX11 mRNA	23274088
D012999	Soman	Soman results in increased expression of SOX11 mRNA	19281266
D053260	Soot	Soot results in decreased expression of SOX11 mRNA	26551751
D013739	Testosterone	Testosterone inhibits the reaction [Dexamethasone results in decreased expression of SOX11 mRNA]	20032058
D013749	Tetrachlorodibenzodioxin	AHR protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of SOX11 mRNA]	19465110
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SOX11 mRNA	16922920; 17035482; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SOX11 mRNA	19465110
C009495	titanium dioxide	titanium dioxide affects the expression of SOX11 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in decreased expression of SOX11 mRNA	23409001; 27760801;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of SOX11 mRNA	20133372
D014212	Tretinoin	SOX11 protein promotes the reaction [Tretinoin results in increased expression of BNIP3 mRNA]	17055661
D014212	Tretinoin	SOX11 protein promotes the reaction [Tretinoin results in increased expression of TANK mRNA]	17055661
D014212	Tretinoin	Tretinoin results in increased expression of SOX11 mRNA	17055661
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 SOX11 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of SOX11 mRNA	24935251; 26272509;
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 SOX11 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SOX11 mRNA	24849673; 25979313;
D014635	Valproic Acid	Valproic Acid results in decreased expression of SOX11 mRNA	23179753; 24383497; 24935251; 25192806; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of SOX11 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of SOX11 mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of SOX11 gene	25560391
D000077337	Vorinostat	Vorinostat results in decreased expression of SOX11 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0991	Mental retardation
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009071	HMG_box_dom
IPR036910	HMG_box_dom_sf
IPR029551	SOX-11
IPR017386	SOX-11/4

PROSITE

PROSITE ID	PROSITE Term
PS50118	HMG_BOX_2

Pfam

Pfam ID	Pfam Term
PF00505	HMG_box

Gene: SOX11

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