CleftGeneDB-Search

Gene: COMMD3-BMI1

Basic information

Tag	Content
Uniprot ID	R4GMX3
Entrez ID	100532731
Genbank protein ID
Genbank nucleotide ID	NM_001204062.1
Ensembl protein ID	ENSP00000473391
Ensembl nucleotide ID	ENSG00000269897
Gene name	COMMD3-BMI1 readthrough
Gene symbol	COMMD3-BMI1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MELSESVQKG FQMLADPRSF DSNAFTLLLR AAFQSLLDAQ ADEAVLDHPD LKHIDPVVLK 60 HCHAAAATYI LEAGKHRADK STLSTYLEDC KFDRERIELF CTEYQNNKNS LEILLGRTLI 120 PHPIQRLVLV AAWNNYRIFY QAEMHRTTRI KITELNPHLM CVLCGGYFID ATTIIECLHS 180 FCKTCIVRYL ETSKYCPICD VQVHKTRPLL NIRSDKTLQD IVYKLVPGLF KNEMKRRRDF 240 YAAHPSADAA NGSNEDRGEV ADEDKRIITD DEIISLSIEF FDQNRLDRKV NKDKEKSKEE 300 VNDKRYLRCP AAMTVMHLRK FLRSKMDIPN TFQIDVMYEE EPLKDYYTLM DIAYIYTWRR 360 NGPLPLKYRV RPTCKRMKIS HQRDGLTNAG ELESDSGSDK ANSPAGGIPS TSSCLPSPST 420 PVQSPHPQFP HISSTMNGTS NSPSGNHQSS FANRPRKSSV NGSSATSSG 469

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	BMI1	510666	Q32KX7			Bos taurus	Prediction	More>>
1:1 ortholog	COMMD3	487097	E2RTM4			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BMI1	102191809	A0A452EWQ5			Capra hircus	Prediction	More>>
1:1 ortholog	COMMD3-BMI1	100532731	R4GMX3			Homo sapiens	Prediction	More>>
1:1 ortholog	Bmi1	12151	P25916	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	BMI1	466023	A0A2I3SRC0			Pan troglodytes	Prediction	More>>
1:1 ortholog	BMI1		A0A287A130			Sus scrofa	Prediction	More>>
1:1 ortholog	BMI1	100009347	G1SNW4			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Bmi1	307151	B4F7B6			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs953209238	p.Glu2Lys	missense variant	-	NC_000010.11:g.22316421G>A	TOPMed,gnomAD
rs199921951	p.Glu2Asp	missense variant	-	NC_000010.11:g.22316423G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs953209238	p.Glu2Gln	missense variant	-	NC_000010.11:g.22316421G>C	TOPMed,gnomAD
rs1375800217	p.Leu3His	missense variant	-	NC_000010.11:g.22316425T>A	TOPMed
rs1244381708	p.Leu3Val	missense variant	-	NC_000010.11:g.22316424C>G	gnomAD
NCI-TCGA novel	p.Leu3Phe	missense variant	-	NC_000010.11:g.22316424C>T	NCI-TCGA
rs1186373447	p.Ser4Leu	missense variant	-	NC_000010.11:g.22316428C>T	TOPMed,gnomAD
rs1260094425	p.Glu5Lys	missense variant	-	NC_000010.11:g.22316430G>A	gnomAD
rs1175148436	p.Ser6Phe	missense variant	-	NC_000010.11:g.22316434C>T	gnomAD
rs1468769835	p.Ser6Ala	missense variant	-	NC_000010.11:g.22316433T>G	TOPMed,gnomAD
rs1184565516	p.Gln8Ter	stop gained	-	NC_000010.11:g.22316439C>T	gnomAD
rs992434160	p.Gln8Leu	missense variant	-	NC_000010.11:g.22316440A>T	TOPMed,gnomAD
rs992434160	p.Gln8Arg	missense variant	-	NC_000010.11:g.22316440A>G	TOPMed,gnomAD
rs140818298	p.Lys9Glu	missense variant	-	NC_000010.11:g.22316442A>G	ESP,ExAC,TOPMed,gnomAD
rs140818298	p.Lys9Gln	missense variant	-	NC_000010.11:g.22316442A>C	ESP,ExAC,TOPMed,gnomAD
rs974038630	p.Lys9Thr	missense variant	-	NC_000010.11:g.22316443A>C	TOPMed
rs974038630	p.Lys9Arg	missense variant	-	NC_000010.11:g.22316443A>G	TOPMed
rs1346952900	p.Phe11Val	missense variant	-	NC_000010.11:g.22316448T>G	gnomAD
rs1431194611	p.Gln12Arg	missense variant	-	NC_000010.11:g.22316452A>G	gnomAD
rs1431194611	p.Gln12Pro	missense variant	-	NC_000010.11:g.22316452A>C	gnomAD
rs143441354	p.Met13Ile	missense variant	-	NC_000010.11:g.22316456G>A	ESP,ExAC,TOPMed,gnomAD
rs143441354	p.Met13Ile	missense variant	-	NC_000010.11:g.22316456G>T	ESP,ExAC,TOPMed,gnomAD
rs1446223715	p.Leu14Val	missense variant	-	NC_000010.11:g.22316457C>G	TOPMed
rs918637028	p.Ala15Glu	missense variant	-	NC_000010.11:g.22316461C>A	TOPMed,gnomAD
rs918637028	p.Ala15Gly	missense variant	-	NC_000010.11:g.22316461C>G	TOPMed,gnomAD
rs918637028	p.Ala15Val	missense variant	-	NC_000010.11:g.22316461C>T	TOPMed,gnomAD
rs1304500743	p.Asp16Val	missense variant	-	NC_000010.11:g.22316464A>T	TOPMed,gnomAD
rs1304500743	p.Asp16Gly	missense variant	-	NC_000010.11:g.22316464A>G	TOPMed,gnomAD
rs533527351	p.Pro17Ser	missense variant	-	NC_000010.11:g.22316466C>T	gnomAD
rs1411377802	p.Pro17His	missense variant	-	NC_000010.11:g.22316467C>A	TOPMed
rs11552445	p.Arg18Cys	missense variant	-	NC_000010.11:g.22316469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11552445	p.Arg18Gly	missense variant	-	NC_000010.11:g.22316469C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs928896343	p.Ser19Phe	missense variant	-	NC_000010.11:g.22316473C>T	gnomAD
rs1470131269	p.Asp21Ala	missense variant	-	NC_000010.11:g.22316479A>C	TOPMed,gnomAD
rs373854912	p.Asn23Ser	missense variant	-	NC_000010.11:g.22316485A>G	ESP,ExAC,TOPMed,gnomAD
rs749426689	p.Asn23Asp	missense variant	-	NC_000010.11:g.22316484A>G	ExAC,TOPMed,gnomAD
rs1189018405	p.Thr26Lys	missense variant	-	NC_000010.11:g.22316494C>A	gnomAD
rs1401159675	p.Leu27Phe	missense variant	-	NC_000010.11:g.22316496C>T	gnomAD
rs774405221	p.Leu28Phe	missense variant	-	NC_000010.11:g.22316499C>T	ExAC,gnomAD
rs901797219	p.Leu29Phe	missense variant	-	NC_000010.11:g.22316502C>T	TOPMed
rs140293380	p.Ala31Val	missense variant	-	NC_000010.11:g.22316509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140293380	p.Ala31Glu	missense variant	-	NC_000010.11:g.22316509C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1370622398	p.Ala32Thr	missense variant	-	NC_000010.11:g.22316511G>A	gnomAD
rs1434588346	p.Phe33Leu	missense variant	-	NC_000010.11:g.22316516C>A	gnomAD
rs772005875	p.Ser35Arg	missense variant	-	NC_000010.11:g.22316522T>G	ExAC,gnomAD
rs773162718	p.Asp38Ala	missense variant	-	NC_000010.11:g.22316530A>C	ExAC,TOPMed,gnomAD
rs1374181248	p.Asp38His	missense variant	-	NC_000010.11:g.22316529G>C	gnomAD
rs745894179	p.Ala39Ser	missense variant	-	NC_000010.11:g.22316532G>T	gnomAD
rs1337377581	p.Ala41Gly	missense variant	-	NC_000010.11:g.22316539C>G	gnomAD
rs1436104637	p.Glu43Lys	missense variant	-	NC_000010.11:g.22316544G>A	gnomAD
NCI-TCGA novel	p.Ala44Val	missense variant	-	NC_000010.11:g.22316548C>T	NCI-TCGA
rs1041385737	p.Val45Met	missense variant	-	NC_000010.11:g.22316550G>A	gnomAD
rs774889597	p.Asp47Glu	missense variant	-	NC_000010.11:g.22317885T>A	ExAC,gnomAD
rs762505507	p.His48Tyr	missense variant	-	NC_000010.11:g.22317886C>T	ExAC,gnomAD
rs762505507	p.His48Asn	missense variant	-	NC_000010.11:g.22317886C>A	ExAC,gnomAD
rs1303099398	p.His48Arg	missense variant	-	NC_000010.11:g.22317887A>G	gnomAD
rs1271566812	p.Pro49Ser	missense variant	-	NC_000010.11:g.22317889C>T	gnomAD
rs1339580097	p.Pro49Arg	missense variant	-	NC_000010.11:g.22317890C>G	TOPMed,gnomAD
rs750927222	p.Asp50Gly	missense variant	-	NC_000010.11:g.22317893A>G	ExAC,gnomAD
rs1271805429	p.Asp50Glu	missense variant	-	NC_000010.11:g.22317894C>G	gnomAD
NCI-TCGA novel	p.Asp50Tyr	missense variant	-	NC_000010.11:g.22317892G>T	NCI-TCGA
rs756531761	p.His53Leu	missense variant	-	NC_000010.11:g.22317902A>T	ExAC,TOPMed,gnomAD
rs766744221	p.Ile54Thr	missense variant	-	NC_000010.11:g.22317905T>C	ExAC,gnomAD
rs1211463894	p.Ile54Val	missense variant	-	NC_000010.11:g.22317904A>G	gnomAD
rs754165911	p.Asp55Asn	missense variant	-	NC_000010.11:g.22317907G>A	ExAC,gnomAD
rs755177169	p.Pro56Ala	missense variant	-	NC_000010.11:g.22317910C>G	ExAC,TOPMed,gnomAD
COSM4912458	p.His61Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.22317926A>G	NCI-TCGA Cosmic
rs748214105	p.His63Arg	missense variant	-	NC_000010.11:g.22317932A>G	ExAC,gnomAD
rs758546043	p.Ala64Val	missense variant	-	NC_000010.11:g.22317935C>T	ExAC,TOPMed,gnomAD
rs758546043	p.Ala64Gly	missense variant	-	NC_000010.11:g.22317935C>G	ExAC,TOPMed,gnomAD
rs1407448055	p.Ala65Val	missense variant	-	NC_000010.11:g.22317938C>T	TOPMed
NCI-TCGA novel	p.Ala65GlyPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.22317936_22317937insG	NCI-TCGA
NCI-TCGA novel	p.Ala66Ser	missense variant	-	NC_000010.11:g.22317940G>T	NCI-TCGA
rs1417907824	p.Thr68Ala	missense variant	-	NC_000010.11:g.22317946A>G	TOPMed
rs1319328716	p.Tyr69Ser	missense variant	-	NC_000010.11:g.22317950A>C	gnomAD
rs770921306	p.Tyr69Ter	stop gained	-	NC_000010.11:g.22317951C>A	ExAC,TOPMed,gnomAD
rs543113343	p.Glu72Gln	missense variant	-	NC_000010.11:g.22317958G>C	1000Genomes,ExAC,gnomAD
rs559797623	p.Ala73Val	missense variant	-	NC_000010.11:g.22317962C>T	1000Genomes,ExAC,gnomAD
rs763582726	p.Gly74Glu	missense variant	-	NC_000010.11:g.22317965G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys75Asn	missense variant	-	NC_000010.11:g.22317969G>T	NCI-TCGA
rs773794310	p.Arg77Gln	missense variant	-	NC_000010.11:g.22317974G>A	ExAC,gnomAD
rs773794310	p.Arg77Pro	missense variant	-	NC_000010.11:g.22317974G>C	ExAC,gnomAD
rs761175014	p.Asp79Glu	missense variant	-	NC_000010.11:g.22317981C>G	ExAC,gnomAD
rs1468194413	p.Asp79Val	missense variant	-	NC_000010.11:g.22317980A>T	TOPMed
rs1186876088	p.Asp79Asn	missense variant	-	NC_000010.11:g.22317979G>A	gnomAD
rs1323318115	p.Thr82Ile	missense variant	-	NC_000010.11:g.22317989C>T	TOPMed
rs1454761053	p.Thr82Ser	missense variant	-	NC_000010.11:g.22317988A>T	gnomAD
rs1213900981	p.Ser84Asn	missense variant	-	NC_000010.11:g.22317995G>A	TOPMed
rs771382008	p.Ser84Arg	missense variant	-	NC_000010.11:g.22318105C>A	ExAC,TOPMed,gnomAD
rs1392674501	p.Thr85Ser	missense variant	-	NC_000010.11:g.22318107C>G	gnomAD
rs1384269849	p.Thr85Ala	missense variant	-	NC_000010.11:g.22318106A>G	TOPMed,gnomAD
rs1297960698	p.Glu88Gly	missense variant	-	NC_000010.11:g.22318116A>G	TOPMed
rs759874425	p.Glu88Gln	missense variant	-	NC_000010.11:g.22318115G>C	ExAC,TOPMed,gnomAD
rs759874425	p.Glu88Ter	stop gained	-	NC_000010.11:g.22318115G>T	ExAC,TOPMed,gnomAD
rs1054972885	p.Asp89Asn	missense variant	-	NC_000010.11:g.22318118G>A	TOPMed
rs1263954988	p.Asp93Gly	missense variant	-	NC_000010.11:g.22318131A>G	gnomAD
rs1481649082	p.Glu95Gln	missense variant	-	NC_000010.11:g.22318136G>C	gnomAD
rs138788733	p.Arg96Gln	missense variant	-	NC_000010.11:g.22318140G>A	ESP,ExAC,TOPMed,gnomAD
rs1251174031	p.Ile97Val	missense variant	-	NC_000010.11:g.22318142A>G	TOPMed,gnomAD
rs1176350033	p.Phe100Leu	missense variant	-	NC_000010.11:g.22318153T>A	TOPMed
rs1483261307	p.Cys101Ser	missense variant	-	NC_000010.11:g.22318155G>C	TOPMed
rs1253830480	p.Cys101Ter	stop gained	-	NC_000010.11:g.22318156C>A	TOPMed
NCI-TCGA novel	p.Cys101AlaPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.22318151T>-	NCI-TCGA
rs148962388	p.Thr102Met	missense variant	-	NC_000010.11:g.22318158C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258606057	p.Glu103Lys	missense variant	-	NC_000010.11:g.22318160G>A	gnomAD
NCI-TCGA novel	p.Glu103Ter	stop gained	-	NC_000010.11:g.22318160G>T	NCI-TCGA
rs1366421212	p.Gln105Ter	stop gained	-	NC_000010.11:g.22318166C>T	gnomAD
rs1361383224	p.Asn107Lys	missense variant	-	NC_000010.11:g.22318277T>G	TOPMed
rs750402771	p.Lys108Asn	missense variant	-	NC_000010.11:g.22318280G>T	ExAC,TOPMed,gnomAD
rs767650585	p.Lys108Glu	missense variant	-	NC_000010.11:g.22318278A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn109Ser	missense variant	-	NC_000010.11:g.22318282A>G	NCI-TCGA
rs1166479514	p.Leu111Pro	missense variant	-	NC_000010.11:g.22318288T>C	TOPMed,gnomAD
rs369311018	p.Leu119Pro	missense variant	-	NC_000010.11:g.22318964T>C	ESP,ExAC,TOPMed,gnomAD
rs1471443185	p.Pro121Leu	missense variant	-	NC_000010.11:g.22318970C>T	gnomAD
NCI-TCGA novel	p.Pro121Ser	missense variant	-	NC_000010.11:g.22318969C>T	NCI-TCGA
rs148388360	p.His122Tyr	missense variant	-	NC_000010.11:g.22318972C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3436546	p.Pro123Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.22318976C>T	NCI-TCGA Cosmic
rs1318184738	p.Gln125Glu	missense variant	-	NC_000010.11:g.22318981C>G	gnomAD
rs1392237487	p.Arg126Gly	missense variant	-	NC_000010.11:g.22318984A>G	gnomAD
COSM917037	p.Leu127Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.22318988T>G	NCI-TCGA Cosmic
rs753348282	p.Leu129Phe	missense variant	-	NC_000010.11:g.22318995A>C	ExAC,gnomAD
rs376503129	p.Val130Ile	missense variant	-	NC_000010.11:g.22318996G>A	ESP,ExAC,TOPMed,gnomAD
rs370953837	p.Trp133Cys	missense variant	-	NC_000010.11:g.22319007G>C	ESP,ExAC,TOPMed,gnomAD
rs370953837	p.Trp133Ter	stop gained	-	NC_000010.11:g.22319007G>A	ESP,ExAC,TOPMed,gnomAD
rs757610657	p.Asn134Lys	missense variant	-	NC_000010.11:g.22319010C>A	ExAC,TOPMed,gnomAD
rs781453568	p.Asn135Asp	missense variant	-	NC_000010.11:g.22319011A>G	ExAC,gnomAD
rs746106385	p.Tyr136Cys	missense variant	-	NC_000010.11:g.22319015A>G	ExAC,TOPMed,gnomAD
rs756297695	p.Arg137Lys	missense variant	-	NC_000010.11:g.22319018G>A	ExAC,gnomAD
rs777102106	p.Ile138Thr	missense variant	-	NC_000010.11:g.22326433T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe139Leu	missense variant	-	NC_000010.11:g.22326437T>G	NCI-TCGA
rs759947678	p.Tyr140His	missense variant	-	NC_000010.11:g.22326438T>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr140IlePheSerTerUnkUnk	frameshift	-	NC_000010.11:g.22326433T>-	NCI-TCGA
rs371061751	p.Gln141Leu	missense variant	-	NC_000010.11:g.22326442A>T	ESP,ExAC,TOPMed,gnomAD
rs371061751	p.Gln141Arg	missense variant	-	NC_000010.11:g.22326442A>G	ESP,ExAC,TOPMed,gnomAD
rs1289925149	p.Ala142Val	missense variant	-	NC_000010.11:g.22326445C>T	gnomAD
rs1361730718	p.Thr147Ala	missense variant	-	NC_000010.11:g.22326459A>G	TOPMed
rs1358157329	p.Thr148Lys	missense variant	-	NC_000010.11:g.22326463C>A	gnomAD
rs1220132289	p.Arg149Ile	missense variant	-	NC_000010.11:g.22326466G>T	gnomAD
rs1299305599	p.Arg149Ser	missense variant	-	NC_000010.11:g.22326467A>T	TOPMed
rs763207530	p.Ile150Met	missense variant	-	NC_000010.11:g.22326470C>G	ExAC,TOPMed,gnomAD
rs1294694270	p.Leu155Val	missense variant	-	NC_000010.11:g.22326483C>G	TOPMed,gnomAD
rs1230983994	p.Pro157Thr	missense variant	-	NC_000010.11:g.22326489C>A	gnomAD
rs1042059	p.Cys161Tyr	missense variant	-	NC_000010.11:g.22326502G>A	-
rs202133405	p.Val162Ala	missense variant	-	NC_000010.11:g.22326505T>C	1000Genomes
rs750273099	p.Val162Met	missense variant	-	NC_000010.11:g.22326504G>A	ExAC,gnomAD
rs1370355215	p.Leu163Phe	missense variant	-	NC_000010.11:g.22326507C>T	TOPMed
rs573475997	p.Ile169Val	missense variant	-	NC_000010.11:g.22326525A>G	1000Genomes,ExAC,gnomAD
rs748955471	p.Ile174Val	missense variant	-	NC_000010.11:g.22326540A>G	ExAC,TOPMed,gnomAD
rs1361296039	p.Ile175Val	missense variant	-	NC_000010.11:g.22326543A>G	TOPMed,gnomAD
rs778504649	p.Ser180Phe	missense variant	-	NC_000010.11:g.22326559C>T	ExAC,TOPMed,gnomAD
rs1023927369	p.Ile186Val	missense variant	-	NC_000010.11:g.22326904A>G	gnomAD
rs377305365	p.Arg188Pro	missense variant	-	NC_000010.11:g.22326911G>C	ESP,ExAC,TOPMed,gnomAD
rs377305365	p.Arg188His	missense variant	-	NC_000010.11:g.22326911G>A	ESP,ExAC,TOPMed,gnomAD
rs772060983	p.Glu191Lys	missense variant	-	NC_000010.11:g.22326919G>A	ExAC,gnomAD
rs887654358	p.Glu191Asp	missense variant	-	NC_000010.11:g.22326921G>T	TOPMed
rs536718245	p.Ile198Val	missense variant	-	NC_000010.11:g.22326940A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1203399014	p.Asn211His	missense variant	-	NC_000010.11:g.22326979A>C	gnomAD
rs1323074440	p.Ile212Val	missense variant	-	NC_000010.11:g.22326982A>G	gnomAD
rs1389866664	p.Thr217Ser	missense variant	-	NC_000010.11:g.22327606C>G	gnomAD
rs763818630	p.Ile221Met	missense variant	-	NC_000010.11:g.22327619T>G	ExAC,TOPMed,gnomAD
rs1341130987	p.Ile221Thr	missense variant	-	NC_000010.11:g.22327618T>C	TOPMed,gnomAD
rs1260869205	p.Asn232Lys	missense variant	-	NC_000010.11:g.22327743T>G	gnomAD
rs763906949	p.Lys235Glu	missense variant	-	NC_000010.11:g.22327750A>G	ExAC,gnomAD
rs1469458151	p.Ala243Thr	missense variant	-	NC_000010.11:g.22327774G>A	gnomAD
rs139371320	p.Ser246Cys	missense variant	-	NC_000010.11:g.22327784C>G	ESP,TOPMed
rs761499549	p.Ala247Pro	missense variant	-	NC_000010.11:g.22327786G>C	ExAC,TOPMed,gnomAD
rs1360423416	p.Asp248Glu	missense variant	-	NC_000010.11:g.22327791T>A	gnomAD
rs145972442	p.Asp248Val	missense variant	-	NC_000010.11:g.22327790A>T	ESP,ExAC,TOPMed,gnomAD
rs752150110	p.Ala249Val	missense variant	-	NC_000010.11:g.22327950C>T	ExAC,TOPMed,gnomAD
rs1290608620	p.Ala250Ser	missense variant	-	NC_000010.11:g.22327952G>T	gnomAD
rs760224972	p.Asn251Asp	missense variant	-	NC_000010.11:g.22327955A>G	ExAC,gnomAD
rs757918929	p.Asn251Ser	missense variant	-	NC_000010.11:g.22327956A>G	ExAC,gnomAD
rs1223657592	p.Val260Ile	missense variant	-	NC_000010.11:g.22327982G>A	gnomAD
rs764472509	p.Thr269Ala	missense variant	-	NC_000010.11:g.22328009A>G	ExAC,gnomAD
rs1034322141	p.Ile278Val	missense variant	-	NC_000010.11:g.22328036A>G	TOPMed
rs757522660	p.Phe281Ser	missense variant	-	NC_000010.11:g.22328046T>C	ExAC,gnomAD
rs781442876	p.Gln283Arg	missense variant	-	NC_000010.11:g.22328052A>G	ExAC,gnomAD
rs781442876	p.Gln283Pro	missense variant	-	NC_000010.11:g.22328052A>C	ExAC,gnomAD
rs1214071588	p.Arg285Gly	missense variant	-	NC_000010.11:g.22328057A>G	TOPMed
rs530837837	p.Arg288Gly	missense variant	-	NC_000010.11:g.22328141C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs182575015	p.Arg288Gln	missense variant	-	NC_000010.11:g.22328142G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530837837	p.Arg288Trp	missense variant	-	NC_000010.11:g.22328141C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs762162726	p.Val290Ile	missense variant	-	NC_000010.11:g.22328147G>A	ExAC,gnomAD
rs767692282	p.Ser297Cys	missense variant	-	NC_000010.11:g.22328169C>G	ExAC,TOPMed,gnomAD
rs1366338297	p.Glu299Lys	missense variant	-	NC_000010.11:g.22328174G>A	TOPMed
rs1326897789	p.Val301Ala	missense variant	-	NC_000010.11:g.22328601T>C	gnomAD
rs1429973268	p.Asn302Ser	missense variant	-	NC_000010.11:g.22328604A>G	gnomAD
rs1268165271	p.Lys304Thr	missense variant	-	NC_000010.11:g.22328610A>C	gnomAD
rs1347220224	p.Arg308Gln	missense variant	-	NC_000010.11:g.22328622G>A	gnomAD
rs754013901	p.Met313Val	missense variant	-	NC_000010.11:g.22328636A>G	ExAC,gnomAD
rs868749055	p.Thr314Ala	missense variant	-	NC_000010.11:g.22328639A>G	TOPMed
rs765347768	p.Met316Arg	missense variant	-	NC_000010.11:g.22328646T>G	ExAC,gnomAD
rs765347768	p.Met316Thr	missense variant	-	NC_000010.11:g.22328646T>C	ExAC,gnomAD
rs758224919	p.Ser324Cys	missense variant	-	NC_000010.11:g.22328669A>T	ExAC,gnomAD
rs1159749636	p.Phe332Val	missense variant	-	NC_000010.11:g.22328693T>G	gnomAD
rs746758445	p.Phe332Ser	missense variant	-	NC_000010.11:g.22328694T>C	ExAC,gnomAD
rs1400017902	p.Gln333Lys	missense variant	-	NC_000010.11:g.22328696C>A	gnomAD
rs1206647896	p.Asp335Tyr	missense variant	-	NC_000010.11:g.22329051G>T	TOPMed
rs374772719	p.Met337Ile	missense variant	-	NC_000010.11:g.22329059G>C	ESP,ExAC,TOPMed,gnomAD
rs368898842	p.Glu339Gly	missense variant	-	NC_000010.11:g.22329064A>G	ESP,TOPMed,gnomAD
rs1357298199	p.Pro342Ser	missense variant	-	NC_000010.11:g.22329072C>T	TOPMed
rs1366486896	p.Met350Thr	missense variant	-	NC_000010.11:g.22329097T>C	gnomAD
rs764148533	p.Trp358Arg	missense variant	-	NC_000010.11:g.22329120T>C	ExAC,gnomAD
rs1053920601	p.Asn361Ser	missense variant	-	NC_000010.11:g.22329214A>G	TOPMed,gnomAD
rs1325105001	p.Leu364Phe	missense variant	-	NC_000010.11:g.22329222C>T	gnomAD
rs746203016	p.Arg371Gln	missense variant	-	NC_000010.11:g.22329244G>A	ExAC,gnomAD
rs1202429072	p.Lys375Glu	missense variant	-	NC_000010.11:g.22329255A>G	gnomAD
rs1270856629	p.Ser380Gly	missense variant	-	NC_000010.11:g.22329270A>G	TOPMed
rs775560798	p.His381Tyr	missense variant	-	NC_000010.11:g.22329273C>T	ExAC,gnomAD
rs1476756983	p.Gln382His	missense variant	-	NC_000010.11:g.22329278G>T	gnomAD
rs763176154	p.Gln382Pro	missense variant	-	NC_000010.11:g.22329277A>C	ExAC,TOPMed,gnomAD
rs1201320002	p.Gly385Glu	missense variant	-	NC_000010.11:g.22329286G>A	gnomAD
rs1023647345	p.Leu386Val	missense variant	-	NC_000010.11:g.22329288C>G	TOPMed
rs202165238	p.Ala389Val	missense variant	-	NC_000010.11:g.22329298C>T	1000Genomes,ExAC,gnomAD
rs1173995971	p.Gly390Arg	missense variant	-	NC_000010.11:g.22329300G>A	gnomAD
rs761763487	p.Glu391Asp	missense variant	-	NC_000010.11:g.22329305A>T	ExAC,TOPMed,gnomAD
rs1454743744	p.Asp399GluLysTyrPheTyrTerValIleUnk	stop gained	-	NC_000010.11:g.22329328_22329329insAAAATATTTTTATTAAGTAATA	gnomAD
rs1288860147	p.Asp399Glu	missense variant	-	NC_000010.11:g.22329329C>A	gnomAD
rs1369792740	p.Ala401Thr	missense variant	-	NC_000010.11:g.22329333G>A	TOPMed
rs1009236602	p.Asn402Tyr	missense variant	-	NC_000010.11:g.22329336A>T	gnomAD
rs750261916	p.Asn402Ser	missense variant	-	NC_000010.11:g.22329337A>G	ExAC,gnomAD
rs1345703450	p.Gly406Glu	missense variant	-	NC_000010.11:g.22329349G>A	gnomAD
rs1443642428	p.Gly407Asp	missense variant	-	NC_000010.11:g.22329352G>A	TOPMed
rs760461431	p.Pro409Thr	missense variant	-	NC_000010.11:g.22329357C>A	ExAC,gnomAD
rs1318256822	p.Ser410Thr	missense variant	-	NC_000010.11:g.22329360T>A	gnomAD
rs753450025	p.Ser412Cys	missense variant	-	NC_000010.11:g.22329367C>G	ExAC,gnomAD
rs753450025	p.Ser412Phe	missense variant	-	NC_000010.11:g.22329367C>T	ExAC,gnomAD
rs754615197	p.Cys414Tyr	missense variant	-	NC_000010.11:g.22329373G>A	ExAC,gnomAD
rs778305888	p.Pro416Leu	missense variant	-	NC_000010.11:g.22329379C>T	ExAC,gnomAD
rs752226313	p.Pro418Arg	missense variant	-	NC_000010.11:g.22329385C>G	ExAC,gnomAD
rs376521566	p.Ser419Gly	missense variant	-	NC_000010.11:g.22329387A>G	ESP,ExAC,gnomAD
rs1410240311	p.Val422Gly	missense variant	-	NC_000010.11:g.22329397T>G	gnomAD
rs1419820839	p.Pro425Arg	missense variant	-	NC_000010.11:g.22329406C>G	gnomAD
rs368232993	p.Gln428Leu	missense variant	-	NC_000010.11:g.22329415A>T	ESP,ExAC
rs145613627	p.Phe429Ser	missense variant	-	NC_000010.11:g.22329418T>C	ESP,ExAC,TOPMed,gnomAD
rs148911593	p.Thr435Ala	missense variant	-	NC_000010.11:g.22329435A>G	ESP,ExAC,TOPMed,gnomAD
rs780400625	p.Met436Val	missense variant	-	NC_000010.11:g.22329438A>G	ExAC,TOPMed,gnomAD
rs749504587	p.Met436Ile	missense variant	-	NC_000010.11:g.22329440G>A	ExAC,gnomAD
rs866781440	p.Asn441Ser	missense variant	-	NC_000010.11:g.22329454A>G	TOPMed
rs761853504	p.Gly445Ser	missense variant	-	NC_000010.11:g.22329465G>A	ExAC,gnomAD
rs772066505	p.His447Tyr	missense variant	-	NC_000010.11:g.22329471C>T	ExAC,gnomAD
rs773125077	p.Gln448Ter	stop gained	-	NC_000010.11:g.22329474C>T	ExAC,gnomAD
rs766114933	p.Ser450Ala	missense variant	-	NC_000010.11:g.22329480T>G	ExAC,gnomAD
rs201024480	p.Asn453Ser	missense variant	-	NC_000010.11:g.22329490A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs764909255	p.Arg454Lys	missense variant	-	NC_000010.11:g.22329493G>A	ExAC,gnomAD
rs142604751	p.Pro455Ser	missense variant	-	NC_000010.11:g.22329495C>T	ESP,ExAC,TOPMed,gnomAD
rs757966770	p.Arg456Ter	stop gained	-	NC_000010.11:g.22329498C>T	ExAC,gnomAD
rs374810543	p.Arg456Leu	missense variant	-	NC_000010.11:g.22329499G>T	ESP,TOPMed
rs763640328	p.Val460Ile	missense variant	-	NC_000010.11:g.22329510G>A	ExAC,gnomAD
rs756604711	p.Ser463Leu	missense variant	-	NC_000010.11:g.22329520C>T	ExAC,TOPMed,gnomAD
rs780304444	p.Ser464Pro	missense variant	-	NC_000010.11:g.22329522T>C	ExAC,gnomAD
rs749643858	p.Ser467Thr	missense variant	-	NC_000010.11:g.22329531T>A	ExAC,gnomAD
rs755197537	p.Gly469Arg	missense variant	-	NC_000010.11:g.22329537G>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0004135	Ataxia Telangiectasia	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
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007107	Malignant neoplasm of larynx	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007129	Merkel cell carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0007855	Cervical polyp	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0013264	Muscular Dystrophy, Duchenne	disease	BEFREE
C0014859	Esophageal Neoplasms	group	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0019348	Herpes Simplex Infections	group	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE
C0020255	Hydrocephalus	disease	BEFREE
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0022660	Kidney Failure, Acute	disease	BEFREE
C0023055	Laryngeal neoplasm	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023440	Acute Erythroblastic Leukemia	disease	BEFREE
C0023448	Lymphoid leukemia	disease	BEFREE
C0023464	Acute biphenotypic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024299	Lymphoma	group	BEFREE
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032927	Precancerous Conditions	group	BEFREE
C0033860	Psoriasis	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0035436	Rheumatic Fever	disease	BEFREE
C0037286	Skin Neoplasms	group	BEFREE
C0037579	Soft Tissue Neoplasms	group	BEFREE
C0038356	Stomach Neoplasms	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0085136	Central Nervous System Neoplasms	group	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206698	Cholangiocarcinoma	disease	BEFREE
C0206704	Carcinoma, Large Cell	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0231341	Premature aging syndrome	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0235989	Renal interstitial fibrosis	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242584	Autoimmune thrombocytopenia	disease	BEFREE
C0264490	Acute respiratory failure	disease	BEFREE
C0272286	Thrombocytopenia due to platelet alloimmunization	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0345905	Intrahepatic Cholangiocarcinoma	disease	BEFREE
C0346429	Multiple malignancy	phenotype	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE
C0398650	Immune thrombocytopenic purpura	disease	BEFREE
C0406557	Poikiloderma of Kindler	disease	BEFREE
C0424295	Hyperactive behavior	phenotype	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0553580	Ewings sarcoma	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0595989	Carcinoma of larynx	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0751781	Dentatorubral-Pallidoluysian Atrophy	disease	BEFREE
C0853662	Oestrogen deficiency	disease	BEFREE
C0856825	Acute GVH disease	disease	BEFREE
C0862196	Mycosis fungoides/Sezary syndrome NOS	disease	BEFREE
C0878500	Intraepithelial Neoplasia	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1378511	Undifferentiated leukemia	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1559154	Rash and Dermatitis Adverse Event Associated with Chemoradiation	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3536893	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	disease	BEFREE
C4048328	cervical cancer	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1257604	PIP3 activates AKT signaling	IEA
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-2559580	Oxidative Stress Induced Senescence	TAS
R-HSA-2559583	Cellular Senescence	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-2990846	SUMOylation	IEA
R-HSA-3108214	SUMOylation of DNA damage response and repair proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	IEA
R-HSA-3899300	SUMOylation of transcription cofactors	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-392499	Metabolism of proteins	IEA
R-HSA-4551638	SUMOylation of chromatin organization proteins	TAS
R-HSA-4570464	SUMOylation of RNA binding proteins	TAS
R-HSA-4655427	SUMOylation of DNA methylation proteins	IEA
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-597592	Post-translational protein modification	IEA
R-HSA-6807070	PTEN Regulation	IEA
R-HSA-6807070	PTEN Regulation	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878171	Transcriptional regulation by RUNX1	TAS
R-HSA-8939243	RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	TAS
R-HSA-8943724	Regulation of PTEN gene transcription	IEA
R-HSA-8943724	Regulation of PTEN gene transcription	TAS
R-HSA-8953750	Transcriptional Regulation by E2F6	TAS
R-HSA-8953897	Cellular responses to external stimuli	TAS
R-HSA-9006925	Intracellular signaling by second messengers	IEA
R-HSA-9006925	Intracellular signaling by second messengers	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of COMMD3-BMI1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of COMMD3-BMI1 mRNA	27392435
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of COMMD3-BMI1 mRNA	27392435
D010100	Oxygen	Oxygen deficiency results in decreased expression of COMMD3-BMI1 mRNA	26516004

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0479	Metal-binding
KW-1185	Reference proteome
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR032443	RAWUL
IPR001841	Znf_RING
IPR013083	Znf_RING/FYVE/PHD
IPR017907	Znf_RING_CS

PROSITE

PROSITE ID	PROSITE Term
PS00518	ZF_RING_1
PS50089	ZF_RING_2

Pfam

Pfam ID	Pfam Term
PF16207	RAWUL