CleftGeneDB-Search

Gene: SIX1

Basic information

Tag	Content
Uniprot ID	Q15475; Q53Y16; Q96H64;
Entrez ID	6495
Genbank protein ID	AAH08874.1; CAA62974.1; AAP35746.1; AAK06772.1;
Genbank nucleotide ID	NM_005982.3
Ensembl protein ID	ENSP00000494686
Ensembl nucleotide ID	ENSG00000126778
Gene name	Homeobox protein SIX1
Gene symbol	SIX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development (By similarity). Plays an important role in the development of several organs, including kidney, muscle and inner ear (By similarity). Depending on context, functions as transcriptional repressor or activator (By similarity). Lacks an activation domain, and requires interaction with EYA family members for transcription activation (PubMed:15141091). Mediates nuclear translocation of EYA1 and EYA2 (PubMed:19497856). Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer (PubMed:27923061, PubMed:23435380, PubMed:15141091, PubMed:19497856). Regulates the expression of numerous genes, including MYC, CCND1 and EZR (By similarity). Acts as activator of the IGFBP5 promoter, probably coactivated by EYA2 (By similarity). Repression of precursor cell proliferation in myoblasts is switched to activation through recruitment of EYA3 to the SIX1-DACH1 complex (By similarity). During myogenesis, seems to act together with EYA2 and DACH2 (By similarity). Regulates the expression of CCNA1 (PubMed:15123840). Promotes brown adipocyte differentiation (By similarity).
Sequence	MSMLPSFGFT QEQVACVCEV LQQGGNLERL GRFLWSLPAC DHLHKNESVL KAKAVVAFHR 60 GNFRELYKIL ESHQFSPHNH PKLQQLWLKA HYVEAEKLRG RPLGAVGKYR VRRKFPLPRT 120 IWDGEETSYC FKEKSRGVLR EWYAHNPYPS PREKRELAEA TGLTTTQVSN WFKNRRQRDR 180 AAEAKERENT ENNNSSSNKQ NQLSPLEGGK PLMSSSEEEF SPPQSPDQNS VLLLQGNMGH 240 ARSSNYSLPG LTASQPSHGL QTHQHQLQDS LLGPLTSSLV DLGS 284

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4EGC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	SIX1		Q08DI4		Bos taurus	Prediction	More>>
1:1 ortholog	SIX1	490719	J9P3S7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SIX1	106502564	A0A452G009		Capra hircus	Prediction	More>>
1:1 ortholog	SIX1	6495	Q15475		Homo sapiens	Prediction	More>>
1:1 ortholog	Six1	20471	Q62231	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SIX1	452952	H2Q8E8		Pan troglodytes	Prediction	More>>
1:1 ortholog	SIX1	100156847	E5DCJ4		Sus scrofa	Prediction	More>>
1:1 ortholog	SIX1	100349440	G1T717		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Six1	114634	G3V970		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs771057416	p.Pro5Gln	missense variant	-	NC_000014.9:g.60649176G>T	ExAC,TOPMed,gnomAD
rs771057416	p.Pro5Leu	missense variant	-	NC_000014.9:g.60649176G>A	ExAC,TOPMed,gnomAD
rs759906473	p.Pro5Ala	missense variant	-	NC_000014.9:g.60649177G>C	ExAC,gnomAD
rs749690789	p.Ser6Ala	missense variant	-	NC_000014.9:g.60649174A>C	ExAC,gnomAD
rs778375446	p.Gly8Val	missense variant	-	NC_000014.9:g.60649167C>A	ExAC,gnomAD
rs778375446	p.Gly8Ala	missense variant	-	NC_000014.9:g.60649167C>G	ExAC,gnomAD
rs1417956063	p.Thr10Met	missense variant	-	NC_000014.9:g.60649161G>A	gnomAD
rs1167753630	p.Glu12Lys	missense variant	-	NC_000014.9:g.60649156C>T	gnomAD
rs1480942237	p.Gln13Lys	missense variant	-	NC_000014.9:g.60649153G>T	gnomAD
rs1197458982	p.Val17Met	missense variant	-	NC_000014.9:g.60649141C>T	gnomAD
RCV000055926	p.Val17Glu	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60649140A>T	ClinVar
rs397515562	p.Val17Glu	missense variant	-	NC_000014.9:g.60649140A>T	-
rs397515562	p.Val17Glu	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60649140A>T	UniProt,dbSNP
VAR_064948	p.Val17Glu	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60649140A>T	UniProt
rs1490210309	p.Glu19Lys	missense variant	-	NC_000014.9:g.60649135C>T	gnomAD
rs1233578721	p.Val20Ala	missense variant	-	NC_000014.9:g.60649131A>G	gnomAD
rs1206708089	p.Leu21Pro	missense variant	-	NC_000014.9:g.60649128A>G	gnomAD
rs1177617020	p.Gln22Leu	missense variant	-	NC_000014.9:g.60649125T>A	TOPMed
rs781574148	p.Gln23Pro	missense variant	-	NC_000014.9:g.60649122T>G	ExAC,gnomAD
rs867031506	p.Gly25Glu	missense variant	-	NC_000014.9:g.60649116C>T	gnomAD
rs1375481520	p.Asn26Lys	missense variant	-	NC_000014.9:g.60649112G>C	TOPMed
rs146357380	p.Glu28Asp	missense variant	-	NC_000014.9:g.60649106C>G	ESP,ExAC,TOPMed,gnomAD
rs1297503138	p.Phe33Leu	missense variant	-	NC_000014.9:g.60649093A>G	TOPMed
rs764103068	p.Phe33Leu	missense variant	-	NC_000014.9:g.60649091G>C	ExAC,gnomAD
rs1001409064	p.Leu37Val	missense variant	-	NC_000014.9:g.60649081G>C	TOPMed,gnomAD
rs760736490	p.Pro38Ala	missense variant	-	NC_000014.9:g.60649078G>C	ExAC,gnomAD
rs1431824329	p.Ala39Thr	missense variant	-	NC_000014.9:g.60649075C>T	gnomAD
rs767478646	p.Cys40Gly	missense variant	-	NC_000014.9:g.60649072A>C	ExAC,gnomAD
rs1303484853	p.His42Tyr	missense variant	-	NC_000014.9:g.60649066G>A	TOPMed
rs149166341	p.His44Gln	missense variant	-	NC_000014.9:g.60649058G>C	ESP,ExAC,TOPMed,gnomAD
rs1480268855	p.His44Arg	missense variant	-	NC_000014.9:g.60649059T>C	gnomAD
rs1223102250	p.Glu47Lys	missense variant	-	NC_000014.9:g.60649051C>T	TOPMed
rs770875229	p.Ser48Arg	missense variant	-	NC_000014.9:g.60649046G>T	ExAC,gnomAD
rs774637636	p.Ser48Asn	missense variant	-	NC_000014.9:g.60649047C>T	ExAC,gnomAD
rs1232263034	p.Leu50Phe	missense variant	-	NC_000014.9:g.60649042G>A	gnomAD
rs1258971434	p.Ala52Val	missense variant	-	NC_000014.9:g.60649035G>A	TOPMed
rs1261097341	p.Ala54Thr	missense variant	-	NC_000014.9:g.60649030C>T	gnomAD
rs770253091	p.Val55Met	missense variant	-	NC_000014.9:g.60649027C>T	ExAC,gnomAD
rs1251187381	p.Val55Ala	missense variant	-	NC_000014.9:g.60649026A>G	TOPMed
rs748718182	p.Val56Leu	missense variant	-	NC_000014.9:g.60649024C>G	ExAC,gnomAD
rs1221612141	p.Ala57Thr	missense variant	-	NC_000014.9:g.60649021C>T	gnomAD
rs1371905806	p.His59Tyr	missense variant	-	NC_000014.9:g.60649015G>A	gnomAD
rs893019043	p.Arg60His	missense variant	-	NC_000014.9:g.60649011C>T	TOPMed,gnomAD
rs1335186361	p.Phe63Leu	missense variant	-	NC_000014.9:g.60649003A>G	gnomAD
RCV000512900	p.Arg64His	missense variant	-	NC_000014.9:g.60648999C>T	ClinVar
RCV000706990	p.Arg64His	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648999C>T	ClinVar
rs1051653507	p.Arg64Pro	missense variant	-	NC_000014.9:g.60648999C>G	TOPMed,gnomAD
rs1051653507	p.Arg64His	missense variant	-	NC_000014.9:g.60648999C>T	TOPMed,gnomAD
rs1463809728	p.Glu65Gln	missense variant	-	NC_000014.9:g.60648997C>G	TOPMed
rs1161503372	p.Leu66Pro	missense variant	-	NC_000014.9:g.60648993A>G	gnomAD
rs1293880867	p.Lys68Met	missense variant	-	NC_000014.9:g.60648987T>A	gnomAD
rs372978267	p.Leu70Val	missense variant	-	NC_000014.9:g.60648982G>C	ESP,ExAC,gnomAD
rs778653697	p.Ser72Arg	missense variant	-	NC_000014.9:g.60648974G>T	ExAC,gnomAD
VAR_064949	p.His73Pro	Missense	Branchiootic syndrome 3 (BOS3) [MIM:608389]	-	UniProt
rs756912951	p.Ser76Leu	missense variant	-	NC_000014.9:g.60648963G>A	ExAC,gnomAD
rs752695594	p.Asn79Asp	missense variant	-	NC_000014.9:g.60648955T>C	ExAC,gnomAD
rs767354178	p.Asn79Ser	missense variant	-	NC_000014.9:g.60648954T>C	ExAC,TOPMed,gnomAD
rs759405851	p.Pro81Ser	missense variant	-	NC_000014.9:g.60648949G>A	ExAC,TOPMed,gnomAD
rs766600023	p.Lys82Arg	missense variant	-	NC_000014.9:g.60648945T>C	ExAC,gnomAD
rs973266865	p.Gln84His	missense variant	-	NC_000014.9:g.60648938C>A	TOPMed,gnomAD
rs973266865	p.Gln84His	missense variant	-	NC_000014.9:g.60648938C>G	TOPMed,gnomAD
rs1247489566	p.Gln84Arg	missense variant	-	NC_000014.9:g.60648939T>C	gnomAD
rs1045845044	p.Val93Leu	missense variant	-	NC_000014.9:g.60648913C>G	TOPMed
rs1224396065	p.Glu94Gly	missense variant	-	NC_000014.9:g.60648909T>C	TOPMed
rs200835641	p.Ala95Val	missense variant	-	NC_000014.9:g.60648906G>A	ExAC,TOPMed,gnomAD
rs1264228301	p.Ala95Thr	missense variant	-	NC_000014.9:g.60648907C>T	TOPMed
rs1216716466	p.Glu96Lys	missense variant	-	NC_000014.9:g.60648904C>T	TOPMed
rs1451985437	p.Leu98Met	missense variant	-	NC_000014.9:g.60648898G>T	TOPMed,gnomAD
rs1451985437	p.Leu98Val	missense variant	-	NC_000014.9:g.60648898G>C	TOPMed,gnomAD
rs17850414	p.Arg99Cys	missense variant	-	NC_000014.9:g.60648895G>A	-
rs17850414	p.Arg99Cys	missense variant	-	NC_000014.9:g.60648895G>A	UniProt,dbSNP
VAR_067446	p.Arg99Cys	missense variant	-	NC_000014.9:g.60648895G>A	UniProt
rs1185640236	p.Arg99His	missense variant	-	NC_000014.9:g.60648894C>T	TOPMed
rs1426574416	p.Pro102Ser	missense variant	-	NC_000014.9:g.60648886G>A	gnomAD
RCV000055923	p.Val106Gly	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60648873A>C	ClinVar
rs397515560	p.Val106Gly	missense variant	-	NC_000014.9:g.60648873A>C	-
rs397515560	p.Val106Gly	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648873A>C	UniProt,dbSNP
VAR_064950	p.Val106Gly	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648873A>C	UniProt
rs1555366324	p.Tyr109Ter	stop gained	-	NC_000014.9:g.60648864dup	-
RCV000592334	p.Tyr109Ter	nonsense	-	NC_000014.9:g.60648864dup	ClinVar
RCV000482613	p.Arg110Gln	missense variant	-	NC_000014.9:g.60648861C>T	ClinVar
rs1064794308	p.Arg110Gln	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648861C>T	UniProt,dbSNP
VAR_064951	p.Arg110Gln	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648861C>T	UniProt
rs1064794308	p.Arg110Gln	missense variant	-	NC_000014.9:g.60648861C>T	TOPMed
rs80356459	p.Arg110Trp	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648862G>A	UniProt,dbSNP
VAR_031024	p.Arg110Trp	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648862G>A	UniProt
rs80356459	p.Arg110Trp	missense variant	Branchiootic syndrome 3 (bos3)	NC_000014.9:g.60648862G>A	-
RCV000008807	p.Arg110Trp	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648862G>A	ClinVar
rs397515561	p.Arg112Cys	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648856G>A	UniProt,dbSNP
VAR_064952	p.Arg112Cys	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648856G>A	UniProt
rs397515561	p.Arg112Cys	missense variant	-	NC_000014.9:g.60648856G>A	-
RCV000055924	p.Arg112Cys	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60648856G>A	ClinVar
rs1268579529	p.Arg113Gly	missense variant	-	NC_000014.9:g.60648853G>C	TOPMed,gnomAD
rs777361656	p.Pro116Leu	missense variant	-	NC_000014.9:g.60648843G>A	ExAC,TOPMed,gnomAD
rs748953823	p.Pro116Ala	missense variant	-	NC_000014.9:g.60648844G>C	ExAC,gnomAD
rs748057221	p.Thr120Ser	missense variant	-	NC_000014.9:g.60648831G>C	ExAC,gnomAD
rs1230421981	p.Ile121Val	missense variant	-	NC_000014.9:g.60648829T>C	TOPMed
rs121909770	p.Trp122Arg	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648826A>T	UniProt,dbSNP
VAR_064953	p.Trp122Arg	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648826A>T	UniProt
rs121909770	p.Trp122Arg	missense variant	Branchiootic syndrome 3 (bos3)	NC_000014.9:g.60648826A>T	-
RCV000008809	p.Trp122Arg	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648826A>T	ClinVar
RCV000190433	p.Glu125Lys	missense variant	Deafness, autosomal dominant 23 (DFNA23)	NC_000014.9:g.60648817C>T	ClinVar
rs797044960	p.Glu125Lys	missense variant	Deafness, autosomal dominant 23 (dfna23)	NC_000014.9:g.60648817C>T	-
rs754918861	p.Ser128Asn	missense variant	-	NC_000014.9:g.60648807C>T	ExAC,gnomAD
RCV000008806	p.Tyr129Cys	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	ClinVar
RCV000055925	p.Tyr129Cys	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60648804T>C	ClinVar
RCV000679883	p.Tyr129Cys	missense variant	Deafness, autosomal dominant 23 (DFNA23)	NC_000014.9:g.60648804T>C	ClinVar
RCV000413341	p.Tyr129Cys	missense variant	-	NC_000014.9:g.60648804T>C	ClinVar
RCV000763344	p.Tyr129Cys	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	ClinVar
rs371614639	p.Tyr129Ter	stop gained	-	NC_000014.9:g.60648803G>C	ESP
rs104894478	p.Tyr129Cys	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	UniProt,dbSNP
VAR_031025	p.Tyr129Cys	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	UniProt
rs104894478	p.Tyr129Cys	missense variant	Branchiootic syndrome 3 (bos3)	NC_000014.9:g.60648804T>C	TOPMed,gnomAD
rs930853232	p.Phe131Leu	missense variant	-	NC_000014.9:g.60648799A>G	TOPMed
rs1212556544	p.Phe131Leu	missense variant	-	NC_000014.9:g.60648797G>C	TOPMed,gnomAD
VAR_031026	p.Glu133del	inframe_deletion	Deafness, autosomal dominant, 23 (DFNA23) [MIM:605192]	-	UniProt
rs975058979	p.Gly137Val	missense variant	-	NC_000014.9:g.60648780C>A	TOPMed
rs758631109	p.Val138Leu	missense variant	-	NC_000014.9:g.60648778C>G	ExAC,gnomAD
rs776744679	p.Glu141Gly	missense variant	-	NC_000014.9:g.60648768T>C	ExAC,TOPMed,gnomAD
rs761906849	p.Glu141Lys	missense variant	-	NC_000014.9:g.60648769C>T	ExAC,gnomAD
rs1201052250	p.Tyr143Asp	missense variant	-	NC_000014.9:g.60648763A>C	gnomAD
rs988112453	p.Ala144Val	missense variant	-	NC_000014.9:g.60648759G>A	TOPMed,gnomAD
rs988112453	p.Ala144Gly	missense variant	-	NC_000014.9:g.60648759G>C	TOPMed,gnomAD
rs1195840852	p.His145Gln	missense variant	-	NC_000014.9:g.60648755G>T	TOPMed,gnomAD
rs1195840852	p.His145Gln	missense variant	-	NC_000014.9:g.60648755G>C	TOPMed,gnomAD
rs764633083	p.His145Asp	missense variant	-	NC_000014.9:g.60648757G>C	ExAC,gnomAD
rs1253548277	p.Tyr148Ter	stop gained	-	NC_000014.9:g.60648746G>C	gnomAD
rs1317609914	p.Glu153Lys	missense variant	-	NC_000014.9:g.60648733C>T	gnomAD
RCV000477918	p.Lys154Ter	nonsense	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648730T>A	ClinVar
rs1060499595	p.Lys154Ter	stop gained	-	NC_000014.9:g.60648730T>A	-
rs775911579	p.Arg155Trp	missense variant	-	NC_000014.9:g.60648727G>A	ExAC,gnomAD
rs772338719	p.Arg155Gln	missense variant	-	NC_000014.9:g.60648726C>T	ExAC,gnomAD
rs773031458	p.Glu156Lys	missense variant	-	NC_000014.9:g.60648724C>T	ExAC,TOPMed,gnomAD
RCV000761879	p.Leu157Val	missense variant	-	NC_000014.9:g.60648721G>C	ClinVar
rs747639845	p.Ala158Val	missense variant	-	NC_000014.9:g.60648717G>A	ExAC,gnomAD
rs1301781969	p.Glu159Gln	missense variant	-	NC_000014.9:g.60648715C>G	TOPMed,gnomAD
rs1301781969	p.Glu159Lys	missense variant	-	NC_000014.9:g.60648715C>T	TOPMed,gnomAD
rs1010466700	p.Ala160Asp	missense variant	-	NC_000014.9:g.60648711G>T	TOPMed
rs1010466700	p.Ala160Val	missense variant	-	NC_000014.9:g.60648711G>A	TOPMed
rs779837812	p.Thr161Ser	missense variant	-	NC_000014.9:g.60648708G>C	ExAC,TOPMed,gnomAD
rs746973450	p.Thr161Ala	missense variant	-	NC_000014.9:g.60648709T>C	ExAC,gnomAD
RCV000215644	p.Leu163Val	missense variant	-	NC_000014.9:g.60648703G>C	ClinVar
rs876658002	p.Leu163Val	missense variant	-	NC_000014.9:g.60648703G>C	-
rs1479289739	p.Thr164Ser	missense variant	-	NC_000014.9:g.60648699G>C	gnomAD
rs143516729	p.Thr165Ile	missense variant	-	NC_000014.9:g.60648696G>A	ESP,gnomAD
rs1201459073	p.Gln167Glu	missense variant	-	NC_000014.9:g.60648691G>C	TOPMed
rs371998997	p.Val168Ile	missense variant	-	NC_000014.9:g.60648688C>T	ESP,ExAC,TOPMed,gnomAD
rs765427858	p.Ser169Gly	missense variant	-	NC_000014.9:g.60648685T>C	ExAC,gnomAD
RCV000520421	p.Asn170Lys	missense variant	-	NC_000014.9:g.60648680G>T	ClinVar
rs1555366309	p.Asn170Lys	missense variant	-	NC_000014.9:g.60648680G>T	-
rs1033334195	p.Phe172Cys	missense variant	-	NC_000014.9:g.60648675A>C	TOPMed
rs1236315675	p.Arg178Lys	missense variant	-	NC_000014.9:g.60648657C>T	TOPMed
rs1264219816	p.Arg180Trp	missense variant	-	NC_000014.9:g.60648652G>A	gnomAD
RCV000483984	p.Glu183Gly	missense variant	-	NC_000014.9:g.60648642T>C	ClinVar
rs1064793268	p.Glu183Gly	missense variant	-	NC_000014.9:g.60648642T>C	-
rs1239894490	p.Ala184Val	missense variant	-	NC_000014.9:g.60648639G>A	TOPMed,gnomAD
rs1274431236	p.Ala184Thr	missense variant	-	NC_000014.9:g.60648640C>T	TOPMed,gnomAD
rs1337543986	p.Glu186Lys	missense variant	-	NC_000014.9:g.60648634C>T	gnomAD
rs760121808	p.Glu188Gly	missense variant	-	NC_000014.9:g.60646575T>C	ExAC,gnomAD
rs775109837	p.Asn189Ser	missense variant	-	NC_000014.9:g.60646572T>C	ExAC,TOPMed,gnomAD
rs1440228225	p.Thr190Ile	missense variant	-	NC_000014.9:g.60646569G>A	TOPMed
rs771994916	p.Glu191Lys	missense variant	-	NC_000014.9:g.60646567C>T	ExAC,gnomAD
rs574181095	p.Asn193Asp	missense variant	-	NC_000014.9:g.60646561T>C	ExAC,TOPMed,gnomAD
RCV000276902	p.Asn193Ile	missense variant	Branchiootorenal Spectrum Disorders	NC_000014.9:g.60646560T>A	ClinVar
RCV000313323	p.Asn193Ile	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000014.9:g.60646560T>A	ClinVar
rs142301715	p.Asn193Ile	missense variant	-	NC_000014.9:g.60646560T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142301715	p.Asn193Ser	missense variant	-	NC_000014.9:g.60646560T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000607647	p.Asn193Ile	missense variant	-	NC_000014.9:g.60646560T>A	ClinVar
rs749472807	p.Ser196Phe	missense variant	-	NC_000014.9:g.60646551G>A	ExAC,gnomAD
rs1411016799	p.Ser197Pro	missense variant	-	NC_000014.9:g.60646549A>G	TOPMed
rs1168903423	p.Lys199Asn	missense variant	-	NC_000014.9:g.60646541C>A	TOPMed,gnomAD
rs756406449	p.Asn201Lys	missense variant	-	NC_000014.9:g.60646535G>C	ExAC,gnomAD
rs1304541108	p.Leu203Phe	missense variant	-	NC_000014.9:g.60646531G>A	TOPMed
rs752687781	p.Ser204Cys	missense variant	-	NC_000014.9:g.60646527G>C	ExAC,TOPMed,gnomAD
rs752687781	p.Ser204Tyr	missense variant	-	NC_000014.9:g.60646527G>T	ExAC,TOPMed,gnomAD
rs781397777	p.Pro205Leu	missense variant	-	NC_000014.9:g.60646524G>A	ExAC,gnomAD
rs543609416	p.Leu206Val	missense variant	-	NC_000014.9:g.60646522G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs758861510	p.Gly209Ala	missense variant	-	NC_000014.9:g.60646512C>G	ExAC,gnomAD
rs1286824463	p.Gly209Ser	missense variant	-	NC_000014.9:g.60646513C>T	TOPMed
rs374638294	p.Pro211Leu	missense variant	-	NC_000014.9:g.60646506G>A	ESP,ExAC,TOPMed,gnomAD
rs1337123501	p.Leu212Phe	missense variant	-	NC_000014.9:g.60646504G>A	gnomAD
rs1277192666	p.Met213Leu	missense variant	-	NC_000014.9:g.60646501T>G	gnomAD
rs1481960266	p.Met213Ile	missense variant	-	NC_000014.9:g.60646499C>G	TOPMed
rs1223807292	p.Met213Thr	missense variant	-	NC_000014.9:g.60646500A>G	gnomAD
RCV000528335	p.Ser215Ile	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60646494C>A	ClinVar
rs560990241	p.Ser215Gly	missense variant	-	NC_000014.9:g.60646495T>C	1000Genomes,ExAC,gnomAD
rs540778343	p.Ser215Ile	missense variant	-	NC_000014.9:g.60646494C>A	1000Genomes
rs540778343	p.Ser215Asn	missense variant	-	NC_000014.9:g.60646494C>T	1000Genomes
rs1435096818	p.Glu219Asp	missense variant	-	NC_000014.9:g.60646481T>A	gnomAD
rs1349841820	p.Ser221Ter	stop gained	-	NC_000014.9:g.60646476G>C	gnomAD
rs767030543	p.Pro222Ser	missense variant	-	NC_000014.9:g.60646474G>A	ExAC,gnomAD
rs1412013227	p.Gln224Arg	missense variant	-	NC_000014.9:g.60646467T>C	gnomAD
rs144481204	p.Asp227Tyr	missense variant	-	NC_000014.9:g.60646459C>A	ESP,ExAC,TOPMed,gnomAD
rs149265761	p.Asp227Glu	missense variant	-	NC_000014.9:g.60646457G>T	ESP,ExAC,TOPMed,gnomAD
RCV000782257	p.Asp227Tyr	missense variant	-	NC_000014.9:g.60646459C>A	ClinVar
rs749015316	p.Gln228His	missense variant	-	NC_000014.9:g.60646454C>G	ExAC,gnomAD
rs770666125	p.Gln228Glu	missense variant	-	NC_000014.9:g.60646456G>C	ExAC,gnomAD
rs918862160	p.Ser230Leu	missense variant	-	NC_000014.9:g.60646449G>A	TOPMed
rs769901336	p.Val231Phe	missense variant	-	NC_000014.9:g.60646447C>A	ExAC,gnomAD
rs1179637997	p.Leu232Phe	missense variant	-	NC_000014.9:g.60646444G>A	TOPMed
rs781362403	p.Leu233Met	missense variant	-	NC_000014.9:g.60646441G>T	ExAC,gnomAD
rs747474509	p.Gln235His	missense variant	-	NC_000014.9:g.60646433C>A	ExAC,TOPMed,gnomAD
rs780726681	p.Gly236Arg	missense variant	-	NC_000014.9:g.60646432C>G	ExAC,gnomAD
rs1204025083	p.Asn237His	missense variant	-	NC_000014.9:g.60646429T>G	gnomAD
rs915194188	p.Met238Lys	missense variant	-	NC_000014.9:g.60646425A>T	TOPMed
rs915194188	p.Met238Thr	missense variant	-	NC_000014.9:g.60646425A>G	TOPMed
rs759290962	p.His240Gln	missense variant	-	NC_000014.9:g.60646418G>C	ExAC,TOPMed,gnomAD
rs750752374	p.Ala241Thr	missense variant	-	NC_000014.9:g.60646417C>T	ExAC,TOPMed,gnomAD
rs755668042	p.Arg242Gly	missense variant	-	NC_000014.9:g.60646414T>C	ExAC,gnomAD
rs752399991	p.Arg242Lys	missense variant	-	NC_000014.9:g.60646413C>T	ExAC,gnomAD
rs766975120	p.Arg242Ser	missense variant	-	NC_000014.9:g.60646412C>G	ExAC,TOPMed
rs1445078561	p.Ser244Leu	missense variant	-	NC_000014.9:g.60646407G>A	gnomAD
rs773902181	p.Asn245Ser	missense variant	-	NC_000014.9:g.60646404T>C	ExAC,gnomAD
rs1470481678	p.Ser247Pro	missense variant	-	NC_000014.9:g.60646399A>G	gnomAD
rs766271672	p.Ser247Tyr	missense variant	-	NC_000014.9:g.60646398G>T	ExAC,TOPMed,gnomAD
rs766271672	p.Ser247Phe	missense variant	-	NC_000014.9:g.60646398G>A	ExAC,TOPMed,gnomAD
RCV000613496	p.Pro249Gln	missense variant	-	NC_000014.9:g.60646392G>T	ClinVar
rs763012848	p.Pro249Ser	missense variant	-	NC_000014.9:g.60646393G>A	ExAC
rs368974927	p.Pro249Leu	missense variant	-	NC_000014.9:g.60646392G>A	UniProt,dbSNP
VAR_064954	p.Pro249Leu	missense variant	-	NC_000014.9:g.60646392G>A	UniProt
rs368974927	p.Pro249Leu	missense variant	-	NC_000014.9:g.60646392G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368974927	p.Pro249Gln	missense variant	-	NC_000014.9:g.60646392G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200205240	p.Thr252Ser	missense variant	-	NC_000014.9:g.60646384T>A	ExAC,TOPMed,gnomAD
rs200205240	p.Thr252Ala	missense variant	-	NC_000014.9:g.60646384T>C	ExAC,TOPMed,gnomAD
rs747061363	p.Ser254Leu	missense variant	-	NC_000014.9:g.60646377G>A	ExAC,gnomAD
rs758821559	p.Pro256Ala	missense variant	-	NC_000014.9:g.60646372G>C	ExAC,TOPMed,gnomAD
rs758821559	p.Pro256Ser	missense variant	-	NC_000014.9:g.60646372G>A	ExAC,TOPMed,gnomAD
rs779084301	p.Gly259Arg	missense variant	-	NC_000014.9:g.60646363C>G	ExAC,TOPMed,gnomAD
rs779084301	p.Gly259Ser	missense variant	-	NC_000014.9:g.60646363C>T	ExAC,TOPMed,gnomAD
rs779084301	p.Gly259Cys	missense variant	-	NC_000014.9:g.60646363C>A	ExAC,TOPMed,gnomAD
rs370259896	p.Leu260Gln	missense variant	-	NC_000014.9:g.60646359A>T	ESP,ExAC,TOPMed,gnomAD
rs370259896	p.Leu260Arg	missense variant	-	NC_000014.9:g.60646359A>C	ESP,ExAC,TOPMed,gnomAD
rs780802037	p.Gln261Arg	missense variant	-	NC_000014.9:g.60646356T>C	ExAC,gnomAD
rs780802037	p.Gln261Pro	missense variant	-	NC_000014.9:g.60646356T>G	ExAC,gnomAD
rs751062848	p.Gln264Glu	missense variant	-	NC_000014.9:g.60646348G>C	ExAC,gnomAD
rs1375362861	p.His265Gln	missense variant	-	NC_000014.9:g.60646343A>T	gnomAD
rs1475558927	p.His265Arg	missense variant	-	NC_000014.9:g.60646344T>C	gnomAD
rs997323109	p.His265Tyr	missense variant	-	NC_000014.9:g.60646345G>A	TOPMed
rs765929697	p.Leu267Phe	missense variant	-	NC_000014.9:g.60646339G>A	ExAC,gnomAD
rs1385361246	p.Asp269Gly	missense variant	-	NC_000014.9:g.60646332T>C	gnomAD
rs1453838313	p.Asp269His	missense variant	-	NC_000014.9:g.60646333C>G	gnomAD
rs901741650	p.Ser270Cys	missense variant	-	NC_000014.9:g.60646329G>C	TOPMed
rs1301445039	p.Ser270Thr	missense variant	-	NC_000014.9:g.60646330A>T	gnomAD
rs764896733	p.Gly273Cys	missense variant	-	NC_000014.9:g.60646321C>A	ExAC,TOPMed,gnomAD
rs764896733	p.Gly273Ser	missense variant	-	NC_000014.9:g.60646321C>T	ExAC,TOPMed,gnomAD
rs1446357667	p.Ser278Asn	missense variant	-	NC_000014.9:g.60646305C>T	gnomAD
rs577150755	p.Asp281Glu	missense variant	-	NC_000014.9:g.60646295G>T	1000Genomes,ExAC,gnomAD
rs1043747885	p.Gly283Arg	missense variant	-	NC_000014.9:g.60646291C>T	TOPMed
rs775655341	p.Ser284Pro	missense variant	-	NC_000014.9:g.60646288A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE;CTD_human
C0001418	Adenocarcinoma	group	BEFREE
C0006131	Branchioma	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006272	Bronchiolitis Obliterans	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008373	Cholesteatoma	disease	HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010278	Craniosynostosis	disease	GENOMICS_ENGLAND
C0011053	Deafness	phenotype	HPO
C0012236	DiGeorge Syndrome	disease	BEFREE
C0014170	Endometrial Neoplasms	group	CTD_human
C0017601	Glaucoma	disease	BEFREE
C0017612	Glaucoma, Open-Angle	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018777	Conductive hearing loss	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0019555	Hip Dislocation, Congenital	disease	HPO
C0019829	Hodgkin Disease	disease	BEFREE
C0020295	Hydronephrosis	disease	BEFREE
C0022680	Polycystic Kidney Diseases	group	HPO
C0024232	Lymphatic Metastasis	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027708	Nephroblastoma	disease	BEFREE;CTD_human
C0027819	Neuroblastoma	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0040188	Tic disorder	disease	BEFREE
C0042580	Vesico-Ureteral Reflux	disease	HPO
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152136	Low Tension Glaucoma	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0155552	Hearing Loss, Mixed Conductive-Sensorineural	disease	HPO
C0178874	Tumor Progression	phenotype	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0221210	Congenital malrotation of intestine	disease	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238210	Malrotation of kidney	disease	HPO
C0238300	Stenosis of nasolacrimal duct	phenotype	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0265234	Branchio-Oto-Renal Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET
C0266063	Deep overbite	disease	HPO
C0266067	Posterior lingual occlusion of mandibular teeth	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0266225	Persistent cloaca	disease	BEFREE
C0266589	Congenital ear anomaly NOS (disorder)	group	HPO
C0266610	Preauricular dimple	disease	BEFREE;HPO
C0266625	Congenital preauricular sinus	disease	HPO
C0267111	Gastric dysplasia	disease	BEFREE
C0278076	Behavioral tic	disease	BEFREE
C0278704	Malignant Childhood Neoplasm	group	BEFREE
C0280232	stage, cervical cancer	phenotype	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0302859	Euthyroid Goiter	disease	HPO
C0339573	Glaucoma, Primary Open Angle	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0346429	Multiple malignancy	phenotype	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376524	Branchio-Oculo-Facial Syndrome	disease	CTD_human
C0376634	Craniofacial Abnormalities	group	CTD_human
C0395837	Stenosis of external auditory canal	disease	HPO
C0399605	Commissural lip pit	phenotype	HPO
C0476089	Endometrial Carcinoma	disease	CTD_human
C0521620	Dilatation of ureter	phenotype	BEFREE
C0542519	Congenital absence of kidney	disease	BEFREE;HPO
C0546968	Fistula of branchial cleft	disease	HPO
C0546969	Preauricular Fistulae, Congenital	disease	HPO
C0576860	Narrowing of ear canal	phenotype	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0677936	Refractory cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684743	Malignant neoplasm of muscle	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0878544	Cardiomyopathies	group	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1305740	Overbite	phenotype	HPO
C1306459	Primary malignant neoplasm	group	BEFREE
C1319017	Nephrogenic rest, perilobar	phenotype	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1398325	Absent auditory canals	disease	HPO
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1512981	Mammary Tumorigenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1567435	Polycystic Kidney - body part	phenotype	HPO
C1609433	Congenital absence of kidneys syndrome	disease	BEFREE
C1619700	RENAL ADYSPLASIA	disease	BEFREE;HPO
C1836047	Long face	phenotype	HPO
C1836678	Abnormality of the middle ear ossicles	phenotype	HPO
C1837463	Narrow face	phenotype	HPO
C1840305	Absent external auditory canals	phenotype	HPO
C1842090	Platelet Glycoprotein IV Deficiency	disease	BEFREE
C1842124	BRANCHIOOTIC SYNDROME 3 (disorder)	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C1846460	Abnormality of the outer ear	phenotype	HPO
C1849121	Thin face	phenotype	HPO
C1851303	Abnormality of the renal collecting system	phenotype	HPO
C1852759	Papillorenal syndrome	disease	BEFREE
C1854594	DEAFNESS, AUTOSOMAL DOMINANT 23	disease	CLINVAR;CTD_human
C1857078	Mondini malformation	phenotype	HPO
C1857079	Atretic auditory canal	disease	HPO
C1857453	Renal hypoplasia/aplasia	phenotype	HPO
C1857456	Morphological abnormality of the middle ear	phenotype	HPO
C1860816	Preauricular skin tag	phenotype	HPO
C1862052	Gustatory lacrimation	phenotype	HPO
C1865143	BRANCHIOOTIC SYNDROME 1	disease	BEFREE;ORPHANET
C1866190	Atresia of the external auditory canal	phenotype	HPO
C1968949	Cakut	disease	GENOMICS_ENGLAND
C1970479	Branchiootorenal Syndrome 2	disease	CTD_human
C2169806	recurrent muscle twitches (symptom)	phenotype	BEFREE
C2216702	malignant neoplasm of breast staging	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2676973	Dilatated internal auditory canal	phenotype	HPO
C2676974	Hypoplasia of the cochlea	phenotype	HPO
C2930471	Bilateral Wilms Tumor	disease	CTD_human
C2981150	Uranostaphyloschisis	disease	HPO
C3536714	Renal dysplasia	disease	HPO
C3551443	ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT	disease	ORPHANET
C3642346	Luminal B Breast Carcinoma	disease	BEFREE
C3711374	Nonsyndromic Deafness	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4021154	Enlarged cochlear aqueduct	phenotype	HPO
C4021762	Abnormality of the cerebrum	phenotype	HPO
C4021796	Renal steatosis	disease	HPO
C4025857	Incomplete partition of the cochlea type II	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4072826	Skin tag on the posterior cheek	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP
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:0001223	transcription coactivator binding	IEA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP
GO:0003677	DNA binding	IDA
GO:0003682	chromatin binding	IEA
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IDA
GO:0044212	transcription regulatory region DNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0001657	ureteric bud development	ISS
GO:0001658	branching involved in ureteric bud morphogenesis	ISS
GO:0001759	organ induction	ISS
GO:0001822	kidney development	ISS
GO:0003151	outflow tract morphogenesis	IEA
GO:0006355	regulation of transcription, DNA-templated	ISS
GO:0006915	apoptotic process	IEA
GO:0007389	pattern specification process	ISS
GO:0007519	skeletal muscle tissue development	ISS
GO:0007519	skeletal muscle tissue development	IBA
GO:0007605	sensory perception of sound	IEA
GO:0008582	regulation of synaptic growth at neuromuscular junction	IEA
GO:0014842	regulation of skeletal muscle satellite cell proliferation	IEA
GO:0014857	regulation of skeletal muscle cell proliferation	IBA
GO:0021610	facial nerve morphogenesis	IEA
GO:0030855	epithelial cell differentiation	ISS
GO:0030878	thyroid gland development	ISS
GO:0030910	olfactory placode formation	IEA
GO:0032880	regulation of protein localization	IEA
GO:0034504	protein localization to nucleus	IDA
GO:0035909	aorta morphogenesis	IEA
GO:0042472	inner ear morphogenesis	ISS
GO:0042474	middle ear morphogenesis	IEA
GO:0043524	negative regulation of neuron apoptotic process	ISS
GO:0045664	regulation of neuron differentiation	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IBA
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	IMP
GO:0048538	thymus development	ISS
GO:0048665	neuron fate specification	IEA
GO:0048699	generation of neurons	ISS
GO:0048701	embryonic cranial skeleton morphogenesis	ISS
GO:0048704	embryonic skeletal system morphogenesis	ISS
GO:0048741	skeletal muscle fiber development	IBA
GO:0048839	inner ear development	ISS
GO:0048856	anatomical structure development	IBA
GO:0050678	regulation of epithelial cell proliferation	IEA
GO:0051451	myoblast migration	ISS
GO:0060037	pharyngeal system development	IEA
GO:0061055	myotome development	IEA
GO:0061197	fungiform papilla morphogenesis	IEA
GO:0061551	trigeminal ganglion development	IEA
GO:0071599	otic vesicle development	IEA
GO:0072075	metanephric mesenchyme development	ISS
GO:0072095	regulation of branch elongation involved in ureteric bud branching	ISS
GO:0072107	positive regulation of ureteric bud formation	ISS
GO:0072172	mesonephric tubule formation	ISS
GO:0072193	ureter smooth muscle cell differentiation	IEA
GO:0072513	positive regulation of secondary heart field cardioblast proliferation	IEA
GO:0090103	cochlea morphogenesis	IEA
GO:0090190	positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0090336	positive regulation of brown fat cell differentiation	ISS
GO:1905243	cellular response to 3,3',5-triiodo-L-thyronine	IEA
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	IEA
GO:2001014	regulation of skeletal muscle cell differentiation	IEA

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:0005667	transcription factor complex	ISS
GO:0005667	transcription factor complex	IBA
GO:0005730	nucleolus	IDA
GO:0005737	cytoplasm	IEA

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 decreased expression of SIX1 mRNA	26377693
C046760	15-acetyldeoxynivalenol	15-acetyldeoxynivalenol results in increased expression of SIX1 mRNA	23792671
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SIX1 mRNA	28628672
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 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 p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 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 increased expression of SIX1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
C496492	abrine	abrine results in decreased expression of SIX1 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of SIX1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of SIX1 mRNA	22100608
D000638	Amiodarone	Amiodarone results in increased expression of SIX1 mRNA	19774075
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SIX1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of SIX1 mRNA	24449571
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SIX1 mRNA	22228805; 22610609;
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of SIX1 mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of SIX1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of SIX1 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of SIX1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of SIX1 mRNA	30816183
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SIX1 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in increased expression of SIX1 mRNA	30951980
D002220	Carbamazepine	Carbamazepine affects the expression of SIX1 mRNA	25979313
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIX1 gene	20938992
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of SIX1 mRNA	20971185
D003703	Demecolcine	Demecolcine results in decreased expression of SIX1 mRNA	23649840
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SIX1 mRNA	28628672
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of SIX1 mRNA	15171707
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of SIX1 mRNA	17394237; 27259717;
D004147	Dioxins	Dioxins affects the expression of SIX1 mRNA	20463971
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 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 increased expression of SIX1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SIX1 mRNA	23550701
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SIX1 mRNA	23129252
D017313	Fenretinide	Fenretinide results in decreased expression of SIX1 mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIX1 gene	20938992
C069837	fullerene C60	fullerene C60 results in decreased expression of SIX1 mRNA	19167457
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Genistein results in decreased expression of SIX1 mRNA]	21810550
D019833	Genistein	Fulvestrant inhibits the reaction [Genistein results in decreased expression of SIX1 mRNA]	21810550
D019833	Genistein	Genistein results in increased expression of SIX1 mRNA	21810550; 27259717;
D019833	Genistein	Genistein results in increased expression of SIX1 protein	21810550
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SIX1 mRNA	28628672
C410337	K 7174	K 7174 results in decreased expression of SIX1 mRNA	24086573
D018021	Lithium Chloride	Lithium Chloride results in increased expression of SIX1 mRNA	19101580
D018021	Lithium Chloride	Lithium Chloride results in increased expression of SIX1 protein	19101580
D018021	Lithium Chloride	SIX1 protein results in increased susceptibility to Lithium Chloride	19101580
C042720	mercuric bromide	mercuric bromide results in increased expression of SIX1 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
D008713	Methimazole	Methimazole results in decreased expression of SIX1 mRNA	22504374
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SIX1 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of SIX1 mRNA	28001369
C523799	MRK 003	SIX1 results in decreased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SIX1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SIX1 mRNA	25554681
C028007	nickel monoxide	nickel monoxide results in decreased expression of SIX1 mRNA	19167457
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of SIX1 mRNA	20971185
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of SIX1 mRNA	25729387
D010100	Oxygen	Oxygen deficiency results in increased expression of SIX1 mRNA	24236059
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of SIX1 mRNA	26272509
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in increased expression of SIX1 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 increased expression of SIX1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of SIX1 mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SIX1 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in increased expression of SIX1 mRNA	20813756
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of SIX1 mRNA	22504374; 24780913;
C017947	sodium arsenite	sodium arsenite affects the methylation of SIX1 gene	28589171
D053260	Soot	Soot results in decreased expression of SIX1 mRNA	26551751
D013739	Testosterone	Testosterone results in decreased expression of SIX1 mRNA	19693291
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SIX1 mRNA	16962184; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to SIX1 promoter]	19654925
C009495	titanium dioxide	titanium dioxide affects the expression of SIX1 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in decreased expression of SIX1 mRNA	29264374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of SIX1 mRNA	30291989
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of SIX1 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of SIX1 mRNA	21934132
D014227	Triazines	Triazines inhibits the reaction [IDH2 protein mutant form results in increased expression of SIX1 mRNA]	27469509
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 increased expression of SIX1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of SIX1 mRNA	24935251; 26272509;
D000077288	Troglitazone	Troglitazone results in decreased expression of SIX1 mRNA	28973697
D014520	Urethane	Urethane results in increased expression of SIX1 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SIX1 mRNA	27188386
D014635	Valproic Acid	SIX1 protein results in increased susceptibility to Valproic Acid	19101580
D014635	Valproic Acid	Valproic Acid affects the expression of SIX1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of SIX1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of SIX1 mRNA	19101580; 23179753; 24383497; 24935251; 26272509; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased expression of SIX1 protein	19101580
D014635	Valproic Acid	Valproic Acid results in increased expression of SIX1 mRNA	24896083
C034028	vanadyl sulfate	vanadyl sulfate results in decreased expression of SIX1 mRNA	16330358
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of SIX1 gene	25560391
D014750	Vincristine	Vincristine results in decreased expression of SIX1 mRNA	23649840

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0053	Apoptosis
KW-0963	Cytoplasm
KW-0209	Deafness
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-1010	Non-syndromic deafness
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR031278	SIX1
IPR031701	SIX1_SD

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF16878	SIX1_SD

Gene: SIX1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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