CleftGeneDB-Search

Gene: MSC

Basic information

Tag	Content
Uniprot ID	O60682; O75946; Q53XZ2; Q9BRE7;
Entrez ID	9242
Genbank protein ID	AAC15071.1; AAH06313.1; AAH67827.1; AAC69870.1; AAP35833.1; EAW86984.1;
Genbank nucleotide ID	NM_005098.3
Ensembl protein ID	ENSP00000321445
Ensembl nucleotide ID	ENSG00000178860
Gene name	Musculin
Gene symbol	MSC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription repressor capable of inhibiting the transactivation capability of TCF3/E47. May play a role in regulating antigen-dependent B-cell differentiation.
Sequence	MSTGSVSDPE EMELRGLQRE YPVPASKRPP LRGVERSYAS PSDNSSAEEE DPDGEEERCA 60 LGTAGSAEGC KRKRPRVAGG GGAGGSAGGG GKKPLPAKGS AAECKQSQRN AANARERARM 120 RVLSKAFSRL KTSLPWVPPD TKLSKLDTLR LASSYIAHLR QLLQEDRYEN GYVHPVNLTW 180 PFVVSGRPDS DTKEVSAANR LCGTTA 206

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MSC	507407	G3X7V5		Bos taurus	Prediction	More>>
1:1 ortholog	MSC	486992	E2R7N0		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MSC	108637528	A0A452EHD7		Capra hircus	Prediction	More>>
1:1 ortholog	MSC	9242	O60682		Homo sapiens	Prediction	More>>
1:1 ortholog	Msc	17681	O88940	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MSC		H2R068		Pan troglodytes	Prediction	More>>
1:1 ortholog	MSC	100155518	F1RWI0		Sus scrofa	Prediction	More>>
1:1 ortholog	MSC	100338807	G1SSJ5		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Msc	312897	D3ZWP1		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM3901402	p.Ser2Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844174G>A	NCI-TCGA Cosmic
rs776700577	p.Thr3Pro	missense variant	-	NC_000008.11:g.71844172T>G	ExAC,gnomAD
rs764180613	p.Thr3Lys	missense variant	-	NC_000008.11:g.71844171G>T	ExAC,gnomAD
rs920237222	p.Gly4Ser	missense variant	-	NC_000008.11:g.71844169C>T	TOPMed,gnomAD
rs760233781	p.Gly4Ala	missense variant	-	NC_000008.11:g.71844168C>G	ExAC,TOPMed,gnomAD
rs760233781	p.Gly4Asp	missense variant	-	NC_000008.11:g.71844168C>T	ExAC,TOPMed,gnomAD
rs1360956701	p.Ser5Pro	missense variant	-	NC_000008.11:g.71844166A>G	gnomAD
rs978543679	p.Ser7Asn	missense variant	-	NC_000008.11:g.71844159C>T	gnomAD
rs1450095732	p.Asp8Val	missense variant	-	NC_000008.11:g.71844156T>A	gnomAD
rs771506761	p.Pro9Ala	missense variant	-	NC_000008.11:g.71844154G>C	ExAC,TOPMed,gnomAD
rs745467298	p.Pro9Leu	missense variant	-	NC_000008.11:g.71844153G>A	ExAC,gnomAD
rs773880814	p.Glu10Gly	missense variant	-	NC_000008.11:g.71844150T>C	ExAC,TOPMed,gnomAD
rs773880814	p.Glu10Ala	missense variant	-	NC_000008.11:g.71844150T>G	ExAC,TOPMed,gnomAD
rs749701821	p.Glu11Lys	missense variant	-	NC_000008.11:g.71844148C>T	ExAC,TOPMed,gnomAD
rs1419221748	p.Met12Lys	missense variant	-	NC_000008.11:g.71844144A>T	TOPMed,gnomAD
rs1450502143	p.Met12Leu	missense variant	-	NC_000008.11:g.71844145T>A	gnomAD
rs1419221748	p.Met12Thr	missense variant	-	NC_000008.11:g.71844144A>G	TOPMed,gnomAD
rs758190685	p.Arg15Pro	missense variant	-	NC_000008.11:g.71844135C>G	TOPMed,gnomAD
rs1410724629	p.Arg15Trp	missense variant	-	NC_000008.11:g.71844136G>A	-
rs778219496	p.Gly16Arg	missense variant	-	NC_000008.11:g.71844133C>T	ExAC,gnomAD
rs559225782	p.Gly16Glu	missense variant	-	NC_000008.11:g.71844132C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly16Trp	missense variant	-	NC_000008.11:g.71844133C>A	NCI-TCGA
rs1277065680	p.Leu17Pro	missense variant	-	NC_000008.11:g.71844129A>G	gnomAD
NCI-TCGA novel	p.Gln18Ter	stop gained	-	NC_000008.11:g.71844127G>A	NCI-TCGA
rs750195088	p.Arg19Gln	missense variant	-	NC_000008.11:g.71844123C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr21Ter	stop gained	-	NC_000008.11:g.71844116G>T	NCI-TCGA
rs200476202	p.Pro22Ser	missense variant	-	NC_000008.11:g.71844115G>A	gnomAD
rs1230012786	p.Pro22Leu	missense variant	-	NC_000008.11:g.71844114G>A	TOPMed,gnomAD
rs757100221	p.Pro24Ser	missense variant	-	NC_000008.11:g.71844109G>A	ExAC,gnomAD
rs753728260	p.Ala25Pro	missense variant	-	NC_000008.11:g.71844106C>G	ExAC,gnomAD
rs753728260	p.Ala25Thr	missense variant	-	NC_000008.11:g.71844106C>T	ExAC,gnomAD
rs201307659	p.Arg28Lys	missense variant	-	NC_000008.11:g.71844096C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3901400	p.Pro29Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844093G>A	NCI-TCGA Cosmic
rs766988381	p.Pro30Ser	missense variant	-	NC_000008.11:g.71844091G>A	ExAC,gnomAD
rs759036071	p.Arg32Cys	missense variant	-	NC_000008.11:g.71844085G>A	ExAC,TOPMed,gnomAD
rs759036071	p.Arg32Gly	missense variant	-	NC_000008.11:g.71844085G>C	ExAC,TOPMed,gnomAD
rs1474296931	p.Arg32His	missense variant	-	NC_000008.11:g.71844084C>T	gnomAD
rs774031595	p.Gly33Asp	missense variant	-	NC_000008.11:g.71844081C>T	ExAC,TOPMed,gnomAD
COSM1553264	p.Val34Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844079C>T	NCI-TCGA Cosmic
rs1425819621	p.Glu35Lys	missense variant	-	NC_000008.11:g.71844076C>T	TOPMed,gnomAD
rs1425819621	p.Glu35Gln	missense variant	-	NC_000008.11:g.71844076C>G	TOPMed,gnomAD
COSM6181606	p.Glu35Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844075T>C	NCI-TCGA Cosmic
rs1231353847	p.Ser37Arg	missense variant	-	NC_000008.11:g.71844068G>C	gnomAD
rs1272492964	p.Ser37Ile	missense variant	-	NC_000008.11:g.71844069C>A	gnomAD
rs1390519135	p.Tyr38Ter	stop gained	-	NC_000008.11:g.71844065G>T	gnomAD
rs1031589354	p.Tyr38Ser	missense variant	-	NC_000008.11:g.71844066T>G	TOPMed,gnomAD
rs770527765	p.Tyr38His	missense variant	-	NC_000008.11:g.71844067A>G	ExAC,gnomAD
rs1370731738	p.Ala39Thr	missense variant	-	NC_000008.11:g.71844064C>T	gnomAD
rs762625407	p.Ala39Val	missense variant	-	NC_000008.11:g.71844063G>A	ExAC,TOPMed
rs748583374	p.Ser42Asn	missense variant	-	NC_000008.11:g.71844054C>T	ExAC,gnomAD
rs748583374	p.Ser42Ile	missense variant	-	NC_000008.11:g.71844054C>A	ExAC,gnomAD
rs1360294434	p.Asp43Glu	missense variant	-	NC_000008.11:g.71844050G>T	TOPMed
rs1159936640	p.Asn44Asp	missense variant	-	NC_000008.11:g.71844049T>C	gnomAD
rs1418507486	p.Asn44Ser	missense variant	-	NC_000008.11:g.71844048T>C	gnomAD
rs886578002	p.Ser45Trp	missense variant	-	NC_000008.11:g.71844045G>C	gnomAD
rs1380984838	p.Ser45Pro	missense variant	-	NC_000008.11:g.71844046A>G	TOPMed
rs886578002	p.Ser45Ter	stop gained	-	NC_000008.11:g.71844045G>T	gnomAD
NCI-TCGA novel	p.Ser45Leu	missense variant	-	NC_000008.11:g.71844045G>A	NCI-TCGA
NCI-TCGA novel	p.Ser45Thr	missense variant	-	NC_000008.11:g.71844046A>T	NCI-TCGA
rs1252112797	p.Ala47Val	missense variant	-	NC_000008.11:g.71844039G>A	gnomAD
rs1488711959	p.Ala47Thr	missense variant	-	NC_000008.11:g.71844040C>T	gnomAD
rs768765211	p.Glu48Lys	missense variant	-	NC_000008.11:g.71844037C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu48Ter	stop gained	-	NC_000008.11:g.71844037C>A	NCI-TCGA
rs747110176	p.Glu49Ala	missense variant	-	NC_000008.11:g.71844033T>G	ExAC,gnomAD
rs996595819	p.Glu50Lys	missense variant	-	NC_000008.11:g.71844031C>T	TOPMed,gnomAD
rs1253684466	p.Glu50Gly	missense variant	-	NC_000008.11:g.71844030T>C	gnomAD
rs780294442	p.Asp51Glu	missense variant	-	NC_000008.11:g.71844026G>T	ExAC,gnomAD
rs1303022259	p.Pro52Ser	missense variant	-	NC_000008.11:g.71844025G>A	TOPMed,gnomAD
rs529973134	p.Asp53Tyr	missense variant	-	NC_000008.11:g.71844022C>A	1000Genomes,TOPMed,gnomAD
rs529973134	p.Asp53Asn	missense variant	-	NC_000008.11:g.71844022C>T	1000Genomes,TOPMed,gnomAD
rs760142315	p.Gly54Arg	missense variant	-	NC_000008.11:g.71844019C>G	ExAC,TOPMed,gnomAD
rs760142315	p.Gly54Ser	missense variant	-	NC_000008.11:g.71844019C>T	ExAC,TOPMed,gnomAD
rs1439093112	p.Glu55Lys	missense variant	-	NC_000008.11:g.71844016C>T	gnomAD
rs1439093112	p.Glu55Ter	stop gained	-	NC_000008.11:g.71844016C>A	gnomAD
rs889461929	p.Glu57Gly	missense variant	-	NC_000008.11:g.71844009T>C	gnomAD
rs1453169057	p.Cys59Phe	missense variant	-	NC_000008.11:g.71844003C>A	gnomAD
rs1453169057	p.Cys59Tyr	missense variant	-	NC_000008.11:g.71844003C>T	gnomAD
rs755979594	p.Leu61Pro	missense variant	-	NC_000008.11:g.71843997A>G	ExAC,gnomAD
rs1454867334	p.Thr63Ile	missense variant	-	NC_000008.11:g.71843991G>A	gnomAD
rs767402149	p.Ala64Val	missense variant	-	NC_000008.11:g.71843988G>A	ExAC,gnomAD
rs182774730	p.Gly65Arg	missense variant	-	NC_000008.11:g.71843986C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs182774730	p.Gly65Ser	missense variant	-	NC_000008.11:g.71843986C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1443073978	p.Ser66Gly	missense variant	-	NC_000008.11:g.71843983T>C	TOPMed
rs750993756	p.Ala67Val	missense variant	-	NC_000008.11:g.71843979G>A	ExAC,gnomAD
rs750993756	p.Ala67Gly	missense variant	-	NC_000008.11:g.71843979G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala67Thr	missense variant	-	NC_000008.11:g.71843980C>T	NCI-TCGA
rs765895272	p.Glu68Gln	missense variant	-	NC_000008.11:g.71843977C>G	ExAC,TOPMed,gnomAD
rs1484631239	p.Gly69Val	missense variant	-	NC_000008.11:g.71843973C>A	TOPMed,gnomAD
rs1484631239	p.Gly69Ala	missense variant	-	NC_000008.11:g.71843973C>G	TOPMed,gnomAD
rs528999718	p.Cys70Tyr	missense variant	-	NC_000008.11:g.71843970C>T	gnomAD
rs1223661814	p.Cys70Arg	missense variant	-	NC_000008.11:g.71843971A>G	gnomAD
rs772852157	p.Lys71Glu	missense variant	-	NC_000008.11:g.71843968T>C	ExAC,TOPMed,gnomAD
rs540875015	p.Lys71Arg	missense variant	-	NC_000008.11:g.71843967T>C	1000Genomes
rs772852157	p.Lys71Ter	stop gained	-	NC_000008.11:g.71843968T>A	ExAC,TOPMed,gnomAD
rs572457232	p.Arg74Pro	missense variant	-	NC_000008.11:g.71843958C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs572457232	p.Arg74Gln	missense variant	-	NC_000008.11:g.71843958C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1296977150	p.Pro75His	missense variant	-	NC_000008.11:g.71843955G>T	gnomAD
rs1403611384	p.Arg76Leu	missense variant	-	NC_000008.11:g.71843952C>A	TOPMed
rs938529047	p.Arg76Cys	missense variant	-	NC_000008.11:g.71843953G>A	TOPMed,gnomAD
rs762138880	p.Ala78Asp	missense variant	-	NC_000008.11:g.71843946G>T	ExAC,TOPMed,gnomAD
rs767858487	p.Gly80Ser	missense variant	-	NC_000008.11:g.71843941C>T	TOPMed,gnomAD
rs769086663	p.Gly80Asp	missense variant	-	NC_000008.11:g.71843940C>T	ExAC,gnomAD
rs747587360	p.Gly81Ser	missense variant	-	NC_000008.11:g.71843938C>T	ExAC,TOPMed,gnomAD
rs1373401503	p.Gly82Arg	missense variant	-	NC_000008.11:g.71843935C>G	TOPMed,gnomAD
rs1426652391	p.Gly84Val	missense variant	-	NC_000008.11:g.71843928C>A	TOPMed,gnomAD
rs1426652391	p.Gly84Asp	missense variant	-	NC_000008.11:g.71843928C>T	TOPMed,gnomAD
rs1258114913	p.Gly85Ser	missense variant	-	NC_000008.11:g.71843926C>T	gnomAD
rs200007708	p.Ala87Ser	missense variant	-	NC_000008.11:g.71843920C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200007708	p.Ala87Thr	missense variant	-	NC_000008.11:g.71843920C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1277771874	p.Ala87Val	missense variant	-	NC_000008.11:g.71843919G>A	TOPMed,gnomAD
rs1277771874	p.Ala87Glu	missense variant	-	NC_000008.11:g.71843919G>T	TOPMed,gnomAD
rs1277771874	p.Ala87Gly	missense variant	-	NC_000008.11:g.71843919G>C	TOPMed,gnomAD
rs1206823616	p.Gly88Ser	missense variant	-	NC_000008.11:g.71843917C>T	gnomAD
rs1026398685	p.Gly89Ser	missense variant	-	NC_000008.11:g.71843914C>T	TOPMed,gnomAD
rs755961248	p.Lys92Thr	missense variant	-	NC_000008.11:g.71843904T>G	ExAC,TOPMed,gnomAD
rs755961248	p.Lys92Arg	missense variant	-	NC_000008.11:g.71843904T>C	ExAC,TOPMed,gnomAD
rs576382504	p.Leu95Phe	missense variant	-	NC_000008.11:g.71843896G>A	1000Genomes,gnomAD
rs1315362872	p.Leu95His	missense variant	-	NC_000008.11:g.71843895A>T	gnomAD
rs1315362872	p.Leu95Arg	missense variant	-	NC_000008.11:g.71843895A>C	gnomAD
rs1354879000	p.Ala97Val	missense variant	-	NC_000008.11:g.71843889G>A	TOPMed,gnomAD
rs371656922	p.Lys98Glu	missense variant	-	NC_000008.11:g.71843887T>C	ESP,ExAC,TOPMed,gnomAD
rs916990694	p.Lys98Arg	missense variant	-	NC_000008.11:g.71843886T>C	TOPMed
rs371656922	p.Lys98Gln	missense variant	-	NC_000008.11:g.71843887T>G	ESP,ExAC,TOPMed,gnomAD
rs1297250098	p.Gly99Ala	missense variant	-	NC_000008.11:g.71843883C>G	TOPMed
rs61732505	p.Gly99Ser	missense variant	-	NC_000008.11:g.71843884C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1460222637	p.Ser100Leu	missense variant	-	NC_000008.11:g.71843880G>A	TOPMed,gnomAD
rs765804759	p.Ala102Thr	missense variant	-	NC_000008.11:g.71843875C>T	ExAC,gnomAD
rs765804759	p.Ala102Ser	missense variant	-	NC_000008.11:g.71843875C>A	ExAC,gnomAD
rs757966260	p.Cys104Arg	missense variant	-	NC_000008.11:g.71843869A>G	ExAC,gnomAD
rs1474620905	p.Ser107Pro	missense variant	-	NC_000008.11:g.71843860A>G	gnomAD
rs764915854	p.Gln108Arg	missense variant	-	NC_000008.11:g.71843856T>C	ExAC,gnomAD
rs1159595644	p.Gln108Ter	stop gained	-	NC_000008.11:g.71843857G>A	gnomAD
NCI-TCGA novel	p.Arg109Trp	missense variant	-	NC_000008.11:g.71843854G>A	NCI-TCGA
rs1474729013	p.Asn110Asp	missense variant	-	NC_000008.11:g.71843851T>C	gnomAD
COSM3432550	p.Ala111Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843848C>T	NCI-TCGA Cosmic
rs1249311556	p.Ala112Gly	missense variant	-	NC_000008.11:g.71843844G>C	gnomAD
COSM1314184	p.Ala112Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843845C>A	NCI-TCGA Cosmic
rs762209386	p.Asn113Thr	missense variant	-	NC_000008.11:g.71843841T>G	ExAC,gnomAD
rs924405173	p.Asn113Lys	missense variant	-	NC_000008.11:g.71843840G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg115His	missense variant	-	NC_000008.11:g.71843835C>T	NCI-TCGA
rs1259973941	p.Arg117Ser	missense variant	-	NC_000008.11:g.71843830G>T	TOPMed
NCI-TCGA novel	p.Arg117His	missense variant	-	NC_000008.11:g.71843829C>T	NCI-TCGA
COSM1553266	p.Arg117Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843830G>A	NCI-TCGA Cosmic
rs1275652650	p.Ala118Ser	missense variant	-	NC_000008.11:g.71843827C>A	gnomAD
NCI-TCGA novel	p.Arg119Trp	missense variant	-	NC_000008.11:g.71843824G>A	NCI-TCGA
COSM1101460	p.Arg119Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843823C>T	NCI-TCGA Cosmic
rs1334345297	p.Met120Ile	missense variant	-	NC_000008.11:g.71843819C>T	gnomAD
rs1183172324	p.Arg121Gly	missense variant	-	NC_000008.11:g.71843818G>C	TOPMed,gnomAD
rs1183172324	p.Arg121Cys	missense variant	-	NC_000008.11:g.71843818G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg121Ser	missense variant	-	NC_000008.11:g.71843818G>T	NCI-TCGA
COSM248961	p.Arg121His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843817C>T	NCI-TCGA Cosmic
rs1336580651	p.Ser124Gly	missense variant	-	NC_000008.11:g.71843809T>C	gnomAD
NCI-TCGA novel	p.Ser124Thr	missense variant	-	NC_000008.11:g.71843808C>G	NCI-TCGA
rs1328386103	p.Ser128Cys	missense variant	-	NC_000008.11:g.71843796G>C	gnomAD
rs764546762	p.Arg129Lys	missense variant	-	NC_000008.11:g.71843793C>T	ExAC,gnomAD
rs761032926	p.Leu130Ile	missense variant	-	NC_000008.11:g.71843791G>T	ExAC,gnomAD
rs776145869	p.Ser133Arg	missense variant	-	NC_000008.11:g.71843780G>T	ExAC,gnomAD
rs1268431000	p.Pro135Thr	missense variant	-	NC_000008.11:g.71843776G>T	TOPMed
rs968639059	p.Trp136Cys	missense variant	-	NC_000008.11:g.71843771C>A	TOPMed
COSM6181607	p.Pro138Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843766G>C	NCI-TCGA Cosmic
rs772274342	p.Pro139Ser	missense variant	-	NC_000008.11:g.71843764G>A	ExAC,TOPMed,gnomAD
rs372185110	p.Asp140Tyr	missense variant	-	NC_000008.11:g.71843761C>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Asp140Asn	missense variant	-	NC_000008.11:g.71843761C>T	NCI-TCGA
rs754803268	p.Leu143His	missense variant	-	NC_000008.11:g.71843751A>T	ExAC,gnomAD
rs1436471074	p.Ser144Cys	missense variant	-	NC_000008.11:g.71843748G>C	gnomAD
rs780022525	p.Lys145Gln	missense variant	-	NC_000008.11:g.71843746T>G	ExAC,gnomAD
rs1241003040	p.Lys145Thr	missense variant	-	NC_000008.11:g.71843745T>G	TOPMed,gnomAD
COSM1101459	p.Thr148Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843736G>A	NCI-TCGA Cosmic
rs1468436971	p.Leu149Phe	missense variant	-	NC_000008.11:g.71843734G>A	gnomAD
rs1351426962	p.Leu151Pro	missense variant	-	NC_000008.11:g.71843727A>G	gnomAD
COSM3901397	p.Leu151Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843728G>C	NCI-TCGA Cosmic
rs756815025	p.Ser153Cys	missense variant	-	NC_000008.11:g.71843721G>C	ExAC,gnomAD
rs764300052	p.Ser154Asn	missense variant	-	NC_000008.11:g.71843718C>T	ExAC,gnomAD
COSM3901395	p.Ala157Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843710C>T	NCI-TCGA Cosmic
COSM5789910	p.Arg160Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843701G>A	NCI-TCGA Cosmic
rs776129321	p.Gln164Arg	missense variant	-	NC_000008.11:g.71843688T>C	ExAC,TOPMed,gnomAD
rs1322415576	p.Glu165Lys	missense variant	-	NC_000008.11:g.71843686C>T	gnomAD
rs768188608	p.Arg167Leu	missense variant	-	NC_000008.11:g.71843679C>A	ExAC,gnomAD
rs774522163	p.Tyr168Phe	missense variant	-	NC_000008.11:g.71843676T>A	ExAC,TOPMed,gnomAD
rs774522163	p.Tyr168Cys	missense variant	-	NC_000008.11:g.71843676T>C	ExAC,TOPMed,gnomAD
rs1395247802	p.Gly171Arg	missense variant	-	NC_000008.11:g.71843668C>G	gnomAD
rs763018117	p.Tyr172Cys	missense variant	-	NC_000008.11:g.71843664T>C	ExAC,TOPMed,gnomAD
rs746852328	p.Val173Ala	missense variant	-	NC_000008.11:g.71843661A>G	ExAC,gnomAD
rs760063227	p.Val173Met	missense variant	-	NC_000008.11:g.71843662C>T	ExAC,TOPMed,gnomAD
rs760063227	p.Val173Leu	missense variant	-	NC_000008.11:g.71843662C>G	ExAC,TOPMed,gnomAD
rs779932755	p.Pro175Ser	missense variant	-	NC_000008.11:g.71843656G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val176Met	missense variant	-	NC_000008.11:g.71843653C>T	NCI-TCGA
rs964717310	p.Asn177Ser	missense variant	-	NC_000008.11:g.71843649T>C	TOPMed,gnomAD
rs1334574224	p.Leu178Pro	missense variant	-	NC_000008.11:g.71843646A>G	TOPMed,gnomAD
rs1431113352	p.Thr179Ser	missense variant	-	NC_000008.11:g.71842747T>A	TOPMed,gnomAD
rs1431113352	p.Thr179Ala	missense variant	-	NC_000008.11:g.71842747T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Trp180Cys	missense variant	-	NC_000008.11:g.71842742C>A	NCI-TCGA
rs1386502508	p.Pro181Ser	missense variant	-	NC_000008.11:g.71842741G>A	TOPMed
rs766098609	p.Phe182Leu	missense variant	-	NC_000008.11:g.71842736G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe182Leu	missense variant	-	NC_000008.11:g.71842736G>C	NCI-TCGA
rs202068867	p.Val183Ala	missense variant	-	NC_000008.11:g.71842734A>G	gnomAD
NCI-TCGA novel	p.Val183Met	missense variant	-	NC_000008.11:g.71842735C>T	NCI-TCGA
rs1280044254	p.Gly186Arg	missense variant	-	NC_000008.11:g.71842726C>T	gnomAD
rs373436659	p.Gly186Ala	missense variant	-	NC_000008.11:g.71842725C>G	ESP,ExAC,TOPMed,gnomAD
rs373436659	p.Gly186Glu	missense variant	-	NC_000008.11:g.71842725C>T	ESP,ExAC,TOPMed,gnomAD
rs562971593	p.Arg187Ile	missense variant	-	NC_000008.11:g.71842722C>A	1000Genomes,ExAC,gnomAD
rs776388351	p.Pro188Gln	missense variant	-	NC_000008.11:g.71842719G>T	ExAC,TOPMed,gnomAD
rs776388351	p.Pro188Leu	missense variant	-	NC_000008.11:g.71842719G>A	ExAC,TOPMed,gnomAD
rs1446099611	p.Asp189Tyr	missense variant	-	NC_000008.11:g.71842717C>A	TOPMed
rs1338493051	p.Thr192Ser	missense variant	-	NC_000008.11:g.71842707G>C	gnomAD
COSM269623	p.Glu194Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71842700T>G	NCI-TCGA Cosmic
rs768380440	p.Val195Leu	missense variant	-	NC_000008.11:g.71842699C>G	ExAC,gnomAD
rs1250973437	p.Val195Ala	missense variant	-	NC_000008.11:g.71842698A>G	TOPMed,gnomAD
rs1415624423	p.Ser196Cys	missense variant	-	NC_000008.11:g.71842695G>C	gnomAD
COSM3834993	p.Ser196Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71842695G>A	NCI-TCGA Cosmic
rs1375013054	p.Ala197Thr	missense variant	-	NC_000008.11:g.71842693C>T	gnomAD
rs1374541766	p.Ala197Val	missense variant	-	NC_000008.11:g.71842692G>A	TOPMed
COSM6113964	p.Ala198Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71842690C>A	NCI-TCGA Cosmic
rs1170599977	p.Asn199Asp	missense variant	-	NC_000008.11:g.71842687T>C	gnomAD
rs1287051526	p.Leu201Gln	missense variant	-	NC_000008.11:g.71842680A>T	TOPMed
rs1261966677	p.Cys202Ter	stop gained	-	NC_000008.11:g.71842676A>T	TOPMed
rs758697140	p.Thr205Asn	missense variant	-	NC_000008.11:g.71842668G>T	ExAC,TOPMed,gnomAD
rs758697140	p.Thr205Ile	missense variant	-	NC_000008.11:g.71842668G>A	ExAC,TOPMed,gnomAD
rs779458176	p.Ala206Thr	missense variant	-	NC_000008.11:g.71842666C>T	ExAC,gnomAD
rs757305977	p.Ala206Gly	missense variant	-	NC_000008.11:g.71842665G>C	ExAC,TOPMed,gnomAD
rs377405872	p.Ter207Gln	stop lost	-	NC_000008.11:g.71842663A>G	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0005940	Bone Diseases	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	LHGDN
C0007102	Malignant tumor of colon	disease	BEFREE
C0007785	Cerebral Infarction	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0011265	Presenile dementia	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013364	Dysautonomia, Familial	disease	BEFREE
C0014070	Encephalomyelitis	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0015302	External exotoses	disease	BEFREE
C0015306	Hereditary Multiple Exostoses	disease	BEFREE
C0015544	Failure to Thrive	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0019158	Hepatitis	disease	BEFREE
C0019159	Hepatitis A	disease	BEFREE
C0019348	Herpes Simplex Infections	group	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE
C0020456	Hyperglycemia	disease	BEFREE
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0022548	Keloid	phenotype	BEFREE
C0022660	Kidney Failure, Acute	disease	BEFREE
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023440	Acute Erythroblastic Leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0023891	Liver Cirrhosis, Alcoholic	disease	BEFREE
C0023895	Liver diseases	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024301	Lymphoma, Follicular	disease	LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0025517	Metabolic Diseases	group	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0026850	Muscular Dystrophy	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0028756	Obesity, Morbid	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029434	Osteogenesis Imperfecta	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030567	Parkinson Disease	disease	BEFREE
C0032131	Plasmacytoma	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE
C0039538	Teratoma	disease	BEFREE
C0040580	Tracheal Diseases	group	BEFREE
C0079731	B-Cell Lymphomas	group	LHGDN
C0085605	Liver Failure	disease	BEFREE
C0151650	Renal fibrosis	disease	BEFREE
C0151744	Myocardial Ischemia	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0155626	Acute myocardial infarction	disease	BEFREE
C0162810	Cicatrix, Hypertrophic	phenotype	BEFREE
C0162871	Aortic Aneurysm, Abdominal	disease	BEFREE
C0206641	Osteochondromatosis	disease	BEFREE
C0221757	alpha 1-Antitrypsin Deficiency	disease	BEFREE
C0233794	Memory impairment	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0266294	Unilateral agenesis of kidney	disease	BEFREE
C0275911	Tuberculosis of intestines	disease	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
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0497327	Dementia	disease	BEFREE
C0524620	Metabolic Syndrome X	disease	BEFREE
C0524851	Neurodegenerative Disorders	group	BEFREE
C0555198	Malignant Glioma	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677865	Brain Stem Glioma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0740391	Middle Cerebral Artery Occlusion	phenotype	BEFREE
C0878787	Growth failure	phenotype	BEFREE
C0917798	Cerebral Ischemia	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C0920646	Ischemia of kidney	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C1136033	Cutaneous Mastocytosis	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1275126	TNF receptor-associated periodic fever syndrome (TRAPS)	disease	BEFREE
C1292753	Primary Effusion Lymphoma	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1333064	Classical Hodgkin's Lymphoma	disease	BEFREE
C1519689	Tumor Promotion	phenotype	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1859069	Brittle Bone Disorder	disease	BEFREE
C1956089	Osteophyte	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2316810	Chronic kidney disease stage 5	disease	BEFREE
C2945695	Limb ischemia	disease	BEFREE
C2945759	aggressive cancer	phenotype	BEFREE
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3501835	alpha-1-Antitrypsin Deficiency, Autosomal Recessive	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0003714	transcription corepressor activity	TAS
GO:0046983	protein dimerization activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0006366	transcription by RNA polymerase II	TAS
GO:0014707	branchiomeric skeletal muscle development	IEA
GO:0060021	roof of mouth development	IEA
GO:0060539	diaphragm development	IEA
GO:1990830	cellular response to leukemia inhibitory factor	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	TAS
GO:0005654	nucleoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C576882	1-(2-trifluoromethoxyphenyl)-2-nitroethanone	1-(2-trifluoromethoxyphenyl)-2-nitroethanone results in decreased expression of MSC mRNA	25596134
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of MSC mRNA	23146750
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MSC mRNA	19114083
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in increased expression of MSC mRNA	19561079
C496492	abrine	abrine results in increased expression of MSC mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of MSC mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MSC gene	27153756
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MSC mRNA	15761015
C015001	arsenite	arsenite results in increased methylation of MSC promoter	23974009
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite affects the expression of MSC mRNA	25757056
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MSC mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of MSC mRNA	20064835
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of MSC mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of MSC mRNA	29275510
C006780	bisphenol A	bisphenol A affects the methylation of MSC promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of MSC mRNA	25270620
C006780	bisphenol A	bisphenol A results in increased expression of MSC mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of MSC mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of MSC mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of MSC mRNA	26079696
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of MSC mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MSC mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of MSC mRNA]	31150632
D002746	Chlorpromazine	Chlorpromazine results in decreased expression of MSC mRNA	25596134
D002945	Cisplatin	Cisplatin results in decreased expression of MSC mRNA	27392435
D016572	Cyclosporine	Cyclosporine results in increased expression of MSC mRNA	20106945
C121718	dicyclanil	dicyclanil results in increased expression of MSC mRNA	15664270
D004317	Doxorubicin	Doxorubicin results in decreased expression of MSC mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of MSC mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of MSC mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of MSC mRNA	25210133
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MSC mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MSC mRNA	17942748
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of MSC mRNA	23649840
D005047	Etoposide	Etoposide results in decreased expression of MSC mRNA	25270620
D011345	Fenofibrate	Fenofibrate results in decreased expression of MSC mRNA	25596134
D017313	Fenretinide	Fenretinide results in increased expression of MSC mRNA	28973697
C004312	glycidol	glycidol results in decreased expression of MSC mRNA	24395379
D008687	Metformin	Metformin results in decreased expression of MSC mRNA	25596134
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of MSC mRNA	23649840
D008770	Methylnitrosourea	Methylnitrosourea results in decreased expression of MSC mRNA	25270620
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of MSC mRNA	31059758
C047806	monomethylpropion	monomethylpropion results in increased expression of MSC mRNA	22303338
C029938	nickel sulfate	nickel sulfate results in increased expression of MSC mRNA	22714537
C570897	NSC668394	NSC668394 results in increased expression of MSC mRNA	27137931
C046012	pentanal	pentanal results in decreased expression of MSC mRNA	26079696
D010634	Phenobarbital	Phenobarbital affects the expression of MSC mRNA	19159669
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of MSC mRNA	22714537
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of MSC mRNA	25596134
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of MSC mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in increased expression of MSC mRNA	22714537
D018038	Sodium Selenite	Sodium Selenite results in increased expression of MSC mRNA	24383545
C016766	sulforafan	sulforafan results in increased expression of MSC mRNA	26833863
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of MSC mRNA	31299295
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MSC mRNA	17942748
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of MSC mRNA	22363418
D014212	Tretinoin	Tretinoin results in decreased expression of MSC mRNA	16604517
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of MSC mRNA	26179874

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0238	DNA-binding
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR011598	bHLH_dom
IPR036638	HLH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS50888	BHLH

Pfam

Pfam ID	Pfam Term
PF00010	HLH

Gene: MSC

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