MECOM

MDS1 and EVI1 complex locus

Summary

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Known Variants430 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs370609194	3:168,802,696	G/T	—	likely benign
rs369748515	3:168,802,700	T/C	—	likely benign
rs372906440	3:168,802,702	C/T	—	uncertain significance
rs779316050	3:168,802,734	G/A	—	uncertain significance
rs750896996	3:168,802,736	C/T	—	likely benign
rs201825977	3:168,802,737	G/T	—	uncertain significance
rs2549110432	3:168,802,755	T/A	—	uncertain significance
rs200073118	3:168,802,762	C/T	—	uncertain significance
rs1438581901	3:168,802,764	T/C	—	uncertain significance
rs148539966	3:168,802,781	T/G	—	conflicting classifications of pathogenicity
rs759485296	3:168,802,782	G/A	—	uncertain significance
rs926147748	3:168,802,798	C/G	—	uncertain significance
rs144104039	3:168,802,816	G/T	—	uncertain significance
rs144184901	3:168,802,826	A/G	—	likely benign
rs1717202146	3:168,802,832	C/G	—	uncertain significance
rs375891441	3:168,802,844	G/A	—	likely benign
rs1390538177	3:168,806,776	G/C	—	likely benign
rs761498391	3:168,806,780	A/C	—	likely benign
rs1260925658	3:168,806,781	T/G	—	likely benign
rs765591199	3:168,806,785	T/C	—	uncertain significance
rs1258750673	3:168,806,789	T/C	—	uncertain significance
rs184103354	3:168,806,792	G/A	—	uncertain significance
rs146055772	3:168,806,803	T/C	—	likely benign
rs752024214	3:168,806,808	G/A	—	uncertain significance
rs79855280	3:168,806,812	C/T	—	likely benign
rs376191747	3:168,806,813	G/A	—	uncertain significance
rs779341348	3:168,806,835	C/T	—	uncertain significance
rs2549146212	3:168,806,836	A/G	—	likely benign
rs555517908	3:168,806,860	C/T	—	likely benign
rs201012357	3:168,806,863	A/G	—	likely benign
rs2549146592	3:168,806,869	A/C	—	likely benign
rs769501020	3:168,806,877	G/T	—	uncertain significance
rs573549322	3:168,806,880	T/G	—	uncertain significance
rs2549146968	3:168,806,900	T/C	—	uncertain significance
rs2549147188	3:168,806,915	A/C	—	uncertain significance
rs1251037633	3:168,806,921	C/T	—	uncertain significance
rs144085622	3:168,806,925	T/C	—	conflicting classifications of pathogenicity
rs779967808	3:168,806,927	T/C	—	conflicting classifications of pathogenicity
rs1413856860	3:168,806,943	G/C	—	uncertain significance
rs143483858	3:168,806,953	A/G	—	likely benign
rs1396514362	3:168,806,961	C/T	—	uncertain significance
rs772942574	3:168,806,975	A/G	—	likely benign
rs201180557	3:168,806,986	C/G	—	benign
rs1981745	3:168,806,987	G/A	—	benign
rs778470697	3:168,807,795	G/A	—	uncertain significance
rs1719145673	3:168,807,797	G/A	—	uncertain significance
rs140918202	3:168,807,806	C/T	—	uncertain significance
rs1442631440	3:168,807,830	T/A	—	uncertain significance
rs765564966	3:168,807,836	T/C	—	uncertain significance
rs2549156851	3:168,807,852	T/G	—	uncertain significance
rs386352330	3:168,807,875	A/G	—	uncertain significance
rs777706418	3:168,807,886	T/C	—	likely benign
rs756715943	3:168,807,905	T/C	—	uncertain significance
rs769060298	3:168,807,946	A/G	—	likely benign
rs1458763977	3:168,807,949	T/A	—	uncertain significance
rs2549158350	3:168,807,983	G/C	—	uncertain significance
rs773618877	3:168,807,986	A/G	—	uncertain significance
rs980456056	3:168,808,011	G/A	—	uncertain significance
rs149936077	3:168,808,014	T/C	—	uncertain significance
rs775159617	3:168,808,018	A/G	—	likely benign
rs2549159083	3:168,808,023	T/C	—	uncertain significance
rs201139839	3:168,808,041	A/C	—	benign
rs74601817	3:168,810,735	G/A	—	benign
rs1287643767	3:168,810,763	G/C	—	likely benign
rs1309122566	3:168,810,778	A/G	—	likely benign
rs1720261425	3:168,810,779	T/C	—	uncertain significance
rs115322445	3:168,810,785	C/T	—	uncertain significance
rs903285634	3:168,810,787	G/A	—	likely benign
rs1398331069	3:168,810,793	A/C	—	uncertain significance
rs374412171	3:168,810,794	A/G	—	conflicting classifications of pathogenicity
rs2549182240	3:168,810,795	T/G	—	uncertain significance
rs756700169	3:168,810,803	C/T	—	uncertain significance
rs1560118923	3:168,810,804	G/A	—	pathogenic
rs778355951	3:168,810,807	T/A	—	uncertain significance
rs779331325	3:168,810,844	C/T	—	likely benign
rs368424856	3:168,810,845	G/A	—	uncertain significance
rs17466625	3:168,810,874	T/C	—	benign
rs762396273	3:168,810,877	C/T	—	likely benign
rs773077050	3:168,812,844	T/C	—	likely benign
rs1338324690	3:168,812,848	A/T	—	likely benign
rs770417491	3:168,812,854	T/A	—	likely benign
rs369936185	3:168,812,860	G/A	—	uncertain significance
rs767306816	3:168,812,864	C/T	—	conflicting classifications of pathogenicity
rs141176563	3:168,812,865	G/A	—	likely benign
rs200049869	3:168,812,870	T/C	—	conflicting classifications of pathogenicity
rs116736168	3:168,812,871	G/T	—	uncertain significance
rs2549199530	3:168,812,875	C/T	—	uncertain significance
rs1349745996	3:168,812,885	G/A	—	uncertain significance
rs1320058225	3:168,812,920	C/A	—	uncertain significance
rs1358801224	3:168,812,927	A/G	—	uncertain significance
rs375683377	3:168,812,931	A/G	—	likely benign
rs34224062	3:168,812,942	G/A	—	likely benign
rs1379047485	3:168,812,943	A/G	—	likely benign
rs200552630	3:168,812,966	T/G	—	uncertain significance
rs2148890956	3:168,812,971	A/G	—	likely pathogenic
rs2148891008	3:168,812,977	C/T	—	pathogenic
rs2148891037	3:168,812,978	G/A	—	pathogenic
rs2148891074	3:168,812,990	G/C	—	likely pathogenic
rs1421616573	3:168,812,991	C/T	—	likely benign
rs2549200204	3:168,812,994	G/C	—	uncertain significance

Showing 100 of 430 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.