CR2Cancer

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

Function

Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	GO:0001933 negative regulation of protein phosphorylation GO:0006479 protein methylation GO:0007254 JNK cascade GO:0008213 protein alkylation GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018205 peptidyl-lysine modification GO:0031098 stress-activated protein kinase signaling cascade GO:0032259 methylation GO:0032872 regulation of stress-activated MAPK cascade GO:0032873 negative regulation of stress-activated MAPK cascade GO:0034968 histone lysine methylation GO:0042326 negative regulation of phosphorylation GO:0043409 negative regulation of MAPK cascade GO:0043414 macromolecule methylation GO:0046328 regulation of JNK cascade GO:0046329 negative regulation of JNK cascade GO:0051403 stress-activated MAPK cascade GO:0070302 regulation of stress-activated protein kinase signaling cascade GO:0070303 negative regulation of stress-activated protein kinase signaling cascade GO:0071425 hematopoietic stem cell proliferation GO:0072089 stem cell proliferation GO:1902532 negative regulation of intracellular signal transduction
Molecular Function	GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0018024 histone-lysine N-methyltransferase activity GO:0042054 histone methyltransferase activity
Cellular Component	GO:0000118 histone deacetylase complex GO:0016234 inclusion body GO:0016235 aggresome GO:0016604 nuclear body GO:0016607 nuclear speck

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04010 MAPK signaling pathway
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-3214841: PKMTs methylate histone lysines

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM138405	c.515C>T	p.S172L	Substitution - Missense	Breast
COSM213693	c.1364T>A	p.I455N	Substitution - Missense	Breast
COSM222009	c.2926G>A	p.D976N	Substitution - Missense	Skin
COSM1236077	c.791A>C	p.D264A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3589895	c.602C>T	p.S201L	Substitution - Missense	Skin
COSM5808479	c.99G>T	p.K33N	Substitution - Missense	Liver
COSM3589873	c.1567C>T	p.P523S	Substitution - Missense	Skin
COSM1732427	c.1821C>A	p.H607Q	Substitution - Missense	Bone
COSM294554	c.1536delT	p.P513fs*15	Deletion - Frameshift	Large_intestine
COSM1719483	c.2497G>A	p.G833S	Substitution - Missense	Skin
COSM1582570	c.421A>C	p.T141P	Substitution - Missense	Stomach
COSM3915324	c.772C>T	p.P258S	Substitution - Missense	Skin
COSM4115106	c.519G>A	p.S173S	Substitution - coding silent	Stomach
COSM3767148	c.1089A>T	p.V363V	Substitution - coding silent	Liver
COSM4157416	c.1728A>C	p.T576T	Substitution - coding silent	Thyroid
COSM4597530	c.415-1G>T	p.?	Unknown	Upper_aerodigestive_tract
COSM5883771	c.1935A>T	p.K645N	Substitution - Missense	Large_intestine
COSM5708543	c.2335C>T	p.H779Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4429248	c.983C>T	p.S328L	Substitution - Missense	Oesophagus
COSM110007	c.1841G>A	p.G614E	Substitution - Missense	Skin
COSM3203708	c.612C>T	p.C204C	Substitution - coding silent	Upper_aerodigestive_tract
COSM5604072	c.2808G>A	p.L936L	Substitution - coding silent	Skin
COSM5800032	c.49G>T	p.E17*	Substitution - Nonsense	Breast
COSM5947006	c.587C>A	p.S196Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5367631	c.1536_1537insT	p.P513fs*12	Insertion - Frameshift	Large_intestine
COSM3589873	c.1567C>T	p.P523S	Substitution - Missense	Skin
COSM5561393	c.327C>T	p.P109P	Substitution - coding silent	Prostate
COSM4701398	c.14A>T	p.D5V	Substitution - Missense	Large_intestine
COSM4157418	c.744T>G	p.G248G	Substitution - coding silent	Thyroid
COSM4654865	c.1806G>A	p.E602E	Substitution - coding silent	Large_intestine
COSM3203721	c.443G>A	p.R148Q	Substitution - Missense	Large_intestine
COSM4539413	c.2118G>A	p.Q706Q	Substitution - coding silent	Skin
COSM3203687	c.834T>G	p.L278L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5581638	c.543C>T	p.I181I	Substitution - coding silent	Skin
COSM5657868	c.1018delC	p.L340fs*2	Deletion - Frameshift	Soft_tissue
COSM729204	c.2752A>G	p.T918A	Substitution - Missense	Lung
COSM3589852	c.2186G>A	p.G729E	Substitution - Missense	Skin
COSM5011212	c.2821A>T	p.K941*	Substitution - Nonsense	Kidney
COSM3203641	c.1223C>T	p.T408I	Substitution - Missense	Large_intestine
COSM289539	c.2604G>A	p.M868I	Substitution - Missense	Large_intestine
COSM3846688	c.2658C>T	p.D886D	Substitution - coding silent	Breast
COSM110007	c.1841G>A	p.G614E	Substitution - Missense	Skin
COSM1420478	c.3120G>A	p.A1040A	Substitution - coding silent	Large_intestine
COSM4383715	c.2087C>T	p.A696V	Substitution - Missense	Oesophagus
COSM5591820	c.348C>T	p.S116S	Substitution - coding silent	Skin
COSM1040966	c.1851C>T	p.V617V	Substitution - coding silent	Endometrium
COSM3589862	c.1832G>A	p.G611E	Substitution - Missense	Skin
COSM729197	c.1947T>C	p.T649T	Substitution - coding silent	Lung
COSM4157418	c.744T>G	p.G248G	Substitution - coding silent	Thyroid
COSM3915316	c.1679G>A	p.R560Q	Substitution - Missense	Skin
COSM4788722	c.210G>C	p.E70D	Substitution - Missense	Liver
COSM5624540	c.747A>G	p.G249G	Substitution - coding silent	Oesophagus
COSM245636	c.333A>G	p.A111A	Substitution - coding silent	Prostate
COSM95706	c.569-2A>T	p.?	Unknown	Lung
COSM3915322	c.1258G>A	p.D420N	Substitution - Missense	Skin
COSM5514506	c.2952G>A	p.L984L	Substitution - coding silent	Biliary_tract
COSM1725278	c.1333A>C	p.N445H	Substitution - Missense	Liver
COSM3589871	c.1586C>T	p.S529L	Substitution - Missense	Skin
COSM3915318	c.1527C>T	p.L509L	Substitution - coding silent	Skin
COSM3589848	c.2286-1G>C	p.?	Unknown	Skin
COSM5734298	c.2195G>A	p.R732H	Substitution - Missense	Pancreas
COSM3915308	c.2738G>A	p.G913E	Substitution - Missense	Skin
COSM3846690	c.1316A>C	p.Q439P	Substitution - Missense	Breast
COSM3589838	c.2742G>A	p.K914K	Substitution - coding silent	Skin
COSM1133684	c.2710_2711GA>AT	p.E904I	Substitution - Missense	Urinary_tract
COSM1693781	c.965C>T	p.S322F	Substitution - Missense	Skin
COSM3408411	c.911C>T	p.P304L	Substitution - Missense	Central_nervous_system
COSM3589834	c.2771G>A	p.G924E	Substitution - Missense	Skin
COSM4899561	c.1807C>T	p.P603S	Substitution - Missense	Skin
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM3589854	c.2120C>T	p.S707L	Substitution - Missense	Skin
COSM5883774	c.1135G>A	p.E379K	Substitution - Missense	Skin
COSM5398614	c.1054G>A	p.D352N	Substitution - Missense	Skin
COSM4460834	c.616C>T	p.H206Y	Substitution - Missense	Skin
COSM138405	c.515C>T	p.S172L	Substitution - Missense	Skin
COSM402389	c.789G>T	p.M263I	Substitution - Missense	Lung
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM3203681	c.900T>C	p.S300S	Substitution - coding silent	Upper_aerodigestive_tract
COSM5355202	c.785C>T	p.A262V	Substitution - Missense	Large_intestine
COSM4534810	c.1557G>A	p.M519I	Substitution - Missense	Skin
COSM4918313	c.516G>T	p.S172S	Substitution - coding silent	Liver
COSM138405	c.515C>T	p.S172L	Substitution - Missense	Large_intestine
COSM3589907	c.253C>T	p.P85S	Substitution - Missense	Skin
COSM5601799	c.2078G>A	p.S693N	Substitution - Missense	Skin
COSM4157416	c.1728A>C	p.T576T	Substitution - coding silent	Thyroid
COSM4912133	c.2882A>G	p.H961R	Substitution - Missense	Liver
COSM4005294	c.187G>A	p.E63K	Substitution - Missense	Skin
COSM5591818	c.1525C>T	p.L509F	Substitution - Missense	Skin
COSM3940384	c.2469G>A	p.S823S	Substitution - coding silent	Oesophagus
COSM1693764	c.2915G>A	p.R972K	Substitution - Missense	Skin
COSM4320642	c.1811G>A	p.R604Q	Substitution - Missense	Skin
COSM5059481	c.1052A>G	p.Q351R	Substitution - Missense	Stomach
COSM350791	c.2091G>A	p.L697L	Substitution - coding silent	Lung
COSM3203542	c.2499T>C	p.G833G	Substitution - coding silent	Oesophagus
COSM5804844	c.633T>A	p.A211A	Substitution - coding silent	Liver
COSM445922	c.1395G>A	p.A465A	Substitution - coding silent	Breast
COSM5736821	c.2734_2735insA	p.T912fs*9	Insertion - Frameshift	Small_intestine
COSM3203683	c.850G>A	p.A284T	Substitution - Missense	Upper_aerodigestive_tract
COSM4470805	c.1119C>T	p.P373P	Substitution - coding silent	Skin
COSM3589836	c.2770G>A	p.G924R	Substitution - Missense	Skin
COSM1693772	c.2353A>G	p.N785D	Substitution - Missense	Skin
COSM3589895	c.602C>T	p.S201L	Substitution - Missense	Skin
COSM3660320	c.1613C>T	p.S538L	Substitution - Missense	Liver
COSM729195	c.568T>G	p.C190G	Substitution - Missense	Lung
COSM1693776	c.1852G>A	p.E618K	Substitution - Missense	Skin
COSM1685937	c.692C>T	p.S231F	Substitution - Missense	Skin
COSM4383711	c.2612G>A	p.S871N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4911226	c.2600+1G>T	p.?	Unknown	Liver
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Breast
COSM479692	c.1290G>T	p.M430I	Substitution - Missense	Kidney
COSM4005294	c.187G>A	p.E63K	Substitution - Missense	Urinary_tract
COSM26331	c.805G>A	p.V269I	Substitution - Missense	Lung
COSM4430992	c.759A>T	p.Q253H	Substitution - Missense	Oesophagus
COSM4848533	c.1870G>C	p.D624H	Substitution - Missense	Cervix
COSM3769770	c.2404C>A	p.Q802K	Substitution - Missense	Soft_tissue
COSM3589881	c.1180C>A	p.L394I	Substitution - Missense	Skin
COSM4788115	c.1877C>G	p.S626C	Substitution - Missense	Liver
COSM276046	c.358C>T	p.R120C	Substitution - Missense	Endometrium
COSM3774710	c.280A>C	p.M94L	Substitution - Missense	Urinary_tract
COSM2157012	c.2585G>A	p.R862K	Substitution - Missense	Central_nervous_system
COSM3203719	c.465C>T	p.V155V	Substitution - coding silent	Skin
COSM4529938	c.1091G>A	p.G364E	Substitution - Missense	Skin
COSM5022478	c.1400C>T	p.S467L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM234681	c.1629G>A	p.K543K	Substitution - coding silent	Skin
COSM3589840	c.2729G>A	p.G910E	Substitution - Missense	Skin
COSM4793125	c.1893A>T	p.R631S	Substitution - Missense	Liver
COSM3203561	c.2180G>A	p.R727Q	Substitution - Missense	Prostate
COSM1685937	c.692C>T	p.S231F	Substitution - Missense	Skin
COSM3589830	c.3086C>T	p.S1029F	Substitution - Missense	Skin
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Endometrium
COSM5966709	c.244C>A	p.Q82K	Substitution - Missense	Adrenal_gland
COSM3203683	c.850G>A	p.A284T	Substitution - Missense	Upper_aerodigestive_tract
COSM109835	c.64C>T	p.R22C	Substitution - Missense	Skin
COSM1420485	c.1165_1168delTCAG	p.S389fs*46	Deletion - Frameshift	Large_intestine
COSM26577	c.2286-1G>A	p.?	Unknown	Skin
COSM1040976	c.34G>A	p.A12T	Substitution - Missense	Endometrium
COSM1214801	c.928G>A	p.G310S	Substitution - Missense	Central_nervous_system
COSM276046	c.358C>T	p.R120C	Substitution - Missense	Large_intestine
COSM1040960	c.2996C>T	p.P999L	Substitution - Missense	Endometrium
COSM3589889	c.862C>T	p.P288S	Substitution - Missense	Skin
COSM4115110	c.434A>G	p.N145S	Substitution - Missense	Stomach
COSM4701389	c.1288A>G	p.M430V	Substitution - Missense	Large_intestine
COSM2157012	c.2585G>A	p.R862K	Substitution - Missense	Central_nervous_system
COSM1286136	c.2285G>T	p.R762I	Substitution - Missense	Autonomic_ganglia
COSM4383709	c.2932C>A	p.Q978K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4701391	c.1002_1005delCAAA	p.N334fs*7	Deletion - Frameshift	Large_intestine
COSM5823062	c.1983G>T	p.R661S	Substitution - Missense	Liver
COSM5939127	c.2521G>A	p.D841N	Substitution - Missense	Skin
COSM5398610	c.2173C>T	p.L725F	Substitution - Missense	Skin
COSM321635	c.1159G>T	p.D387Y	Substitution - Missense	Lung
COSM4925399	c.2196C>T	p.R732R	Substitution - coding silent	Liver
COSM4153016	c.3057G>A	p.E1019E	Substitution - coding silent	Kidney
COSM4927540	c.1702C>G	p.P568A	Substitution - Missense	Liver
COSM3589911	c.219G>A	p.T73T	Substitution - coding silent	Stomach
COSM3203683	c.850G>A	p.A284T	Substitution - Missense	Upper_aerodigestive_tract
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM245635	c.707G>A	p.R236K	Substitution - Missense	Prostate
COSM1420491	c.301_302delAG	p.R101fs*5	Deletion - Frameshift	Large_intestine
COSM1308799	c.1969G>C	p.E657Q	Substitution - Missense	Urinary_tract
COSM3589844	c.2502G>A	p.A834A	Substitution - coding silent	Skin
COSM4383719	c.1678C>T	p.R560*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1040971	c.613C>G	p.R205G	Substitution - Missense	Endometrium
COSM4979259	c.1315C>A	p.Q439K	Substitution - Missense	Oesophagus
COSM1693770	c.2386G>A	p.D796N	Substitution - Missense	Skin
COSM5578965	c.1444G>A	p.E482K	Substitution - Missense	Skin
COSM1040974	c.504G>A	p.T168T	Substitution - coding silent	Endometrium
COSM3203687	c.834T>G	p.L278L	Substitution - coding silent	Upper_aerodigestive_tract
COSM3589917	c.20C>T	p.P7L	Substitution - Missense	Skin
COSM4528513	c.977G>A	p.G326E	Substitution - Missense	Skin
COSM3408413	c.69C>T	p.C23C	Substitution - coding silent	Central_nervous_system
COSM1214801	c.928G>A	p.G310S	Substitution - Missense	Central_nervous_system
COSM4929723	c.2498G>C	p.G833A	Substitution - Missense	Liver
COSM282744	c.886G>A	p.A296T	Substitution - Missense	Large_intestine
COSM4383725	c.154T>G	p.S52A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1719483	c.2497G>A	p.G833S	Substitution - Missense	Skin
COSM3589887	c.899C>T	p.S300F	Substitution - Missense	Skin
COSM138405	c.515C>T	p.S172L	Substitution - Missense	Skin
COSM4434667	c.266+1G>C	p.?	Unknown	Oesophagus
COSM1693783	c.800C>T	p.S267F	Substitution - Missense	Skin
COSM3915326	c.128C>T	p.P43L	Substitution - Missense	Skin
COSM4483126	c.2112C>T	p.L704L	Substitution - coding silent	Skin
COSM379321	c.39G>A	p.P13P	Substitution - coding silent	Lung
COSM3915324	c.772C>T	p.P258S	Substitution - Missense	Skin
COSM5020482	c.711G>A	p.R237R	Substitution - coding silent	Soft_tissue
COSM3589913	c.197A>T	p.N66I	Substitution - Missense	Skin
COSM3203683	c.850G>A	p.A284T	Substitution - Missense	Upper_aerodigestive_tract
COSM3203683	c.850G>A	p.A284T	Substitution - Missense	Upper_aerodigestive_tract
COSM138405	c.515C>T	p.S172L	Substitution - Missense	Skin
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Pancreas
COSM1685937	c.692C>T	p.S231F	Substitution - Missense	Skin
COSM3589883	c.1092G>A	p.G364G	Substitution - coding silent	Skin
COSM3203677	c.922C>T	p.P308S	Substitution - Missense	Skin
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM1471552	c.738G>C	p.A246A	Substitution - coding silent	Prostate
COSM1719481	c.2543G>A	p.R848Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3589887	c.899C>T	p.S300F	Substitution - Missense	Skin
COSM5398614	c.1054G>A	p.D352N	Substitution - Missense	Skin
COSM5641352	c.49G>A	p.E17K	Substitution - Missense	Oesophagus
COSM5578963	c.1328C>T	p.S443L	Substitution - Missense	Skin
COSM3660322	c.1511C>A	p.P504H	Substitution - Missense	Liver
COSM4788722	c.210G>C	p.E70D	Substitution - Missense	Liver
COSM294554	c.1536delT	p.P513fs*15	Deletion - Frameshift	Large_intestine
COSM1484826	c.3117G>A	p.A1039A	Substitution - coding silent	Breast
COSM5486330	c.2977C>T	p.P993S	Substitution - Missense	Large_intestine
COSM1420488	c.753delT	p.F251fs*21	Deletion - Frameshift	Large_intestine
COSM3589915	c.136A>T	p.T46S	Substitution - Missense	Skin
COSM5790264	c.106C>A	p.L36I	Substitution - Missense	Breast
COSM1040960	c.2996C>T	p.P999L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM141062	c.2864G>A	p.G955E	Substitution - Missense	Upper_aerodigestive_tract
COSM1719481	c.2543G>A	p.R848Q	Substitution - Missense	Skin
COSM3589869	c.1602G>A	p.M534I	Substitution - Missense	Skin
COSM479690	c.1434T>C	p.A478A	Substitution - coding silent	Kidney
COSM1040972	c.613C>A	p.R205S	Substitution - Missense	Endometrium
COSM419720	c.69C>A	p.C23*	Substitution - Nonsense	Urinary_tract
COSM1617181	c.1817delA	p.N606fs*38	Deletion - Frameshift	Liver
COSM5465776	c.1368C>T	p.F456F	Substitution - coding silent	Large_intestine
COSM3589891	c.720G>A	p.E240E	Substitution - coding silent	Skin
COSM3915312	c.2191G>A	p.E731K	Substitution - Missense	Skin
COSM5398618	c.767C>T	p.S256L	Substitution - Missense	Skin
COSM5685699	c.1156A>G	p.S386G	Substitution - Missense	Soft_tissue
COSM1040964	c.2232G>A	p.R744R	Substitution - coding silent	Endometrium
COSM1719479	c.2550C>T	p.F850F	Substitution - coding silent	Skin
COSM3589850	c.2227C>T	p.P743S	Substitution - Missense	Skin
COSM77663	c.2131A>G	p.M711V	Substitution - Missense	Ovary
COSM3915312	c.2191G>A	p.E731K	Substitution - Missense	Skin
COSM4383723	c.431G>T	p.S144I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM582283	c.1461A>T	p.S487S	Substitution - coding silent	Upper_aerodigestive_tract
COSM3203619	c.1500T>G	p.A500A	Substitution - coding silent	Upper_aerodigestive_tract
COSM1420488	c.753delT	p.F251fs*21	Deletion - Frameshift	Large_intestine
COSM138403	c.1900C>T	p.P634S	Substitution - Missense	Skin
COSM1236638	c.1124G>A	p.R375K	Substitution - Missense	Autonomic_ganglia
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM4801288	c.1033C>T	p.Q345*	Substitution - Nonsense	Liver
COSM1040962	c.2425C>T	p.L809L	Substitution - coding silent	Endometrium
COSM4115108	c.473G>A	p.R158Q	Substitution - Missense	Stomach
COSM110007	c.1841G>A	p.G614E	Substitution - Missense	Skin
COSM84835	c.675G>T	p.M225I	Substitution - Missense	Pancreas
COSM3203677	c.922C>T	p.P308S	Substitution - Missense	Skin
COSM3724584	c.614G>T	p.R205L	Substitution - Missense	Lung
COSM1040967	c.1587G>A	p.S529S	Substitution - coding silent	Endometrium
COSM3724586	c.2804C>T	p.A935V	Substitution - Missense	Lung
COSM729196	c.835G>T	p.A279S	Substitution - Missense	Lung
COSM1719481	c.2543G>A	p.R848Q	Substitution - Missense	Skin
COSM1719481	c.2543G>A	p.R848Q	Substitution - Missense	Skin
COSM3203615	c.1530A>G	p.P510P	Substitution - coding silent	Upper_aerodigestive_tract
COSM4528513	c.977G>A	p.G326E	Substitution - Missense	Skin
COSM3589871	c.1586C>T	p.S529L	Substitution - Missense	Skin
COSM3203702	c.686C>T	p.T229M	Substitution - Missense	Central_nervous_system
COSM5615237	c.1778G>T	p.S593I	Substitution - Missense	Lung
COSM1753006	c.1264G>C	p.E422Q	Substitution - Missense	Urinary_tract
COSM4793125	c.1893A>T	p.R631S	Substitution - Missense	Liver
COSM4942056	c.379A>T	p.S127C	Substitution - Missense	Liver
COSM4478251	c.1657C>T	p.P553S	Substitution - Missense	Skin
COSM3589877	c.1470G>A	p.L490L	Substitution - coding silent	Skin
COSM3589883	c.1092G>A	p.G364G	Substitution - coding silent	Skin
COSM1693781	c.965C>T	p.S322F	Substitution - Missense	Skin
COSM3589901	c.431G>A	p.S144N	Substitution - Missense	Skin
COSM402388	c.1065G>T	p.K355N	Substitution - Missense	Lung
COSM138404	c.743G>A	p.G248D	Substitution - Missense	Skin
COSM1420490	c.536_537insCACAA	p.K179fs*9	Insertion - Frameshift	Large_intestine
COSM3203721	c.443G>A	p.R148Q	Substitution - Missense	Central_nervous_system
COSM5911934	c.256G>A	p.D86N	Substitution - Missense	Skin
COSM3589846	c.2359G>A	p.E787K	Substitution - Missense	Skin
COSM3203687	c.834T>G	p.L278L	Substitution - coding silent	Upper_aerodigestive_tract
COSM729199	c.2145G>T	p.R715S	Substitution - Missense	Lung
COSM3203619	c.1500T>G	p.A500A	Substitution - coding silent	Upper_aerodigestive_tract
COSM110007	c.1841G>A	p.G614E	Substitution - Missense	Skin
COSM1693776	c.1852G>A	p.E618K	Substitution - Missense	Skin
COSM40064	c.2782G>A	p.D928N	Substitution - Missense	Central_nervous_system
COSM5756211	c.1058T>C	p.I353T	Substitution - Missense	Large_intestine
COSM3781109	c.1197A>G	p.T399T	Substitution - coding silent	Pancreas
COSM5506828	c.1800G>C	p.L600L	Substitution - coding silent	Biliary_tract
COSM3589871	c.1586C>T	p.S529L	Substitution - Missense	Skin
COSM4115112	c.414+2T>C	p.?	Unknown	Stomach
COSM5779821	c.793A>T	p.K265*	Substitution - Nonsense	Breast
COSM5502803	c.1705G>A	p.V569I	Substitution - Missense	Biliary_tract
COSM4793547	c.132C>T	p.C44C	Substitution - coding silent	Liver
COSM5014392	c.1338T>G	p.N446K	Substitution - Missense	Kidney
COSM3589887	c.899C>T	p.S300F	Substitution - Missense	Skin
COSM98030	c.3130G>T	p.A1044S	Substitution - Missense	Upper_aerodigestive_tract
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Pancreas
COSM1719479	c.2550C>T	p.F850F	Substitution - coding silent	Skin
COSM3589871	c.1586C>T	p.S529L	Substitution - Missense	Skin
COSM729194	c.163G>A	p.E55K	Substitution - Missense	Lung
COSM26333	c.3156+5A>G	p.?	Unknown	Lung
COSM3589911	c.219G>A	p.T73T	Substitution - coding silent	Skin
COSM1040972	c.613C>A	p.R205S	Substitution - Missense	Endometrium
COSM729200	c.2543G>T	p.R848L	Substitution - Missense	Lung
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM3203546	c.2468C>T	p.S823L	Substitution - Missense	Prostate
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM1484828	c.589T>C	p.Y197H	Substitution - Missense	Breast
COSM3203708	c.612C>T	p.C204C	Substitution - coding silent	Upper_aerodigestive_tract
COSM4701381	c.2614C>T	p.H872Y	Substitution - Missense	Large_intestine
COSM5974632	c.1890A>G	p.A630A	Substitution - coding silent	Upper_aerodigestive_tract
COSM1214800	c.1621G>T	p.E541*	Substitution - Nonsense	Large_intestine
COSM109835	c.64C>T	p.R22C	Substitution - Missense	Breast
COSM3589887	c.899C>T	p.S300F	Substitution - Missense	Skin
COSM4383707	c.3031A>G	p.M1011V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM729194	c.163G>A	p.E55K	Substitution - Missense	Lung
COSM1753008	c.1234G>A	p.D412N	Substitution - Missense	Urinary_tract
COSM1642168	c.1491delA	p.V498fs*30	Deletion - Frameshift	Stomach
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM3945114	c.157A>G	p.M53V	Substitution - Missense	Lung
COSM48986	c.2014-2A>T	p.?	Unknown	Lung
COSM5368959	c.1033C>A	p.Q345K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5431795	c.163G>C	p.E55Q	Substitution - Missense	Oesophagus
COSM1040969	c.686C>G	p.T229R	Substitution - Missense	Endometrium
COSM4701385	c.1832_1833insG	p.G614fs*37	Insertion - Frameshift	Large_intestine
COSM1632968	c.3029C>T	p.A1010V	Substitution - Missense	Liver
COSM3589905	c.267-1G>A	p.?	Unknown	Large_intestine
COSM4584097	c.1120G>A	p.E374K	Substitution - Missense	Bone
COSM3589893	c.718G>A	p.E240K	Substitution - Missense	Skin
COSM4701383	c.2201C>T	p.T734I	Substitution - Missense	Large_intestine
COSM149512	c.236A>T	p.E79V	Substitution - Missense	Stomach
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Pancreas
COSM5941212	c.595C>T	p.Q199*	Substitution - Nonsense	Skin
COSM1719479	c.2550C>T	p.F850F	Substitution - coding silent	Skin
COSM4701387	c.1819C>T	p.H607Y	Substitution - Missense	Large_intestine
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Oesophagus
COSM95706	c.569-2A>T	p.?	Unknown	Lung
COSM138405	c.515C>T	p.S172L	Substitution - Missense	Large_intestine
COSM1693774	c.2207G>A	p.R736K	Substitution - Missense	Skin
COSM4115102	c.3116C>T	p.A1039V	Substitution - Missense	Stomach
COSM98030	c.3130G>T	p.A1044S	Substitution - Missense	Upper_aerodigestive_tract
COSM136383	c.1916C>T	p.P639L	Substitution - Missense	Skin
COSM1040973	c.537G>A	p.K179K	Substitution - coding silent	Endometrium
COSM4791080	c.1527C>G	p.L509L	Substitution - coding silent	Liver
COSM5398616	c.866C>T	p.A289V	Substitution - Missense	Skin
COSM282743	c.1226C>T	p.S409L	Substitution - Missense	Large_intestine
COSM1236638	c.1124G>A	p.R375K	Substitution - Missense	Autonomic_ganglia
COSM4801288	c.1033C>T	p.Q345*	Substitution - Nonsense	Liver
COSM3589885	c.923C>T	p.P308L	Substitution - Missense	Skin
COSM234681	c.1629G>A	p.K543K	Substitution - coding silent	Skin
COSM729202	c.2751G>T	p.V917V	Substitution - coding silent	Lung
COSM3589909	c.235G>A	p.E79K	Substitution - Missense	Skin
COSM1420488	c.753delT	p.F251fs*21	Deletion - Frameshift	Stomach
COSM3427303	c.641G>T	p.R214I	Substitution - Missense	Large_intestine
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM1693760	c.2957C>T	p.S986F	Substitution - Missense	Skin
COSM3660326	c.360C>T	p.R120R	Substitution - coding silent	Liver
COSM5018721	c.233A>C	p.K78T	Substitution - Missense	Soft_tissue
COSM4835089	c.639C>G	p.C213W	Substitution - Missense	Cervix
COSM5623507	c.265A>G	p.S89G	Substitution - Missense	Oesophagus
COSM419721	c.2710G>A	p.E904K	Substitution - Missense	Urinary_tract
COSM162428	c.1663G>C	p.D555H	Substitution - Missense	Breast
COSM4383715	c.2087C>T	p.A696V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4805580	c.1948G>C	p.D650H	Substitution - Missense	Liver
COSM3915316	c.1679G>A	p.R560Q	Substitution - Missense	Skin
COSM582283	c.1461A>T	p.S487S	Substitution - coding silent	Upper_aerodigestive_tract
COSM4835401	c.2107G>A	p.E703K	Substitution - Missense	Cervix
COSM5441364	c.2121A>T	p.S707S	Substitution - coding silent	Oesophagus
COSM4632331	c.2449A>G	p.M817V	Substitution - Missense	Large_intestine
COSM4517118	c.2249_2250GG>AA	p.R750Q	Substitution - Missense	Skin
COSM3589887	c.899C>T	p.S300F	Substitution - Missense	Skin
COSM228051	c.20_21CC>TT	p.P7>?	Complex	Skin
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM5931338	c.1015C>T	p.P339S	Substitution - Missense	Skin
COSM1040968	c.1585T>C	p.S529P	Substitution - Missense	Endometrium
COSM1683969	c.2730delA	p.T912fs*6	Deletion - Frameshift	Prostate
COSM4902234	c.2488G>A	p.E830K	Substitution - Missense	Skin
COSM3589852	c.2186G>A	p.G729E	Substitution - Missense	Skin
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM445920	c.2289C>T	p.C763C	Substitution - coding silent	Breast
COSM3695907	c.218C>T	p.T73M	Substitution - Missense	Large_intestine
COSM3589907	c.253C>T	p.P85S	Substitution - Missense	Skin
COSM3408407	c.1848C>T	p.N616N	Substitution - coding silent	Central_nervous_system
COSM4701396	c.613C>T	p.R205C	Substitution - Missense	Large_intestine
COSM1420484	c.1491_1492insA	p.V498fs*27	Insertion - Frameshift	Large_intestine
COSM1040965	c.1961C>A	p.A654D	Substitution - Missense	Endometrium
COSM3915316	c.1679G>A	p.R560Q	Substitution - Missense	Skin
COSM3203546	c.2468C>T	p.S823L	Substitution - Missense	Skin
COSM108594	c.2626G>A	p.E876K	Substitution - Missense	Skin
COSM4584093	c.2855A>G	p.Y952C	Substitution - Missense	Bone
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM3767150	c.573G>A	p.E191E	Substitution - coding silent	Liver
COSM1420489	c.709_711delAGG	p.R237delR	Deletion - In frame	Large_intestine
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Pancreas
COSM3660324	c.744T>A	p.G248G	Substitution - coding silent	Liver
COSM4383713	c.2524G>A	p.A842T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5647665	c.1345G>C	p.E449Q	Substitution - Missense	Oesophagus
COSM4475788	c.1452C>T	p.Y484Y	Substitution - coding silent	Skin
COSM4779886	c.594T>A	p.T198T	Substitution - coding silent	Liver
COSM330710	c.1518G>T	p.M506I	Substitution - Missense	Lung
COSM3915320	c.1523C>T	p.P508L	Substitution - Missense	Skin
COSM294554	c.1536delT	p.P513fs*15	Deletion - Frameshift	Large_intestine
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM3915310	c.2420G>A	p.R807K	Substitution - Missense	Skin
COSM5463232	c.860A>G	p.H287R	Substitution - Missense	Large_intestine
COSM3203708	c.612C>T	p.C204C	Substitution - coding silent	Upper_aerodigestive_tract
COSM3203708	c.612C>T	p.C204C	Substitution - coding silent	Upper_aerodigestive_tract
COSM1327736	c.2411A>G	p.N804S	Substitution - Missense	Ovary
COSM419723	c.2711A>T	p.E904V	Substitution - Missense	Urinary_tract
COSM3589885	c.923C>T	p.P308L	Substitution - Missense	Skin
COSM4980899	c.2439G>A	p.E813E	Substitution - coding silent	Oesophagus
COSM119800	c.860A>T	p.H287L	Substitution - Missense	Ovary
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM4157420	c.621G>T	p.K207N	Substitution - Missense	Thyroid
COSM3203590	c.1833A>G	p.G611G	Substitution - coding silent	Stomach
COSM3203694	c.746G>A	p.G249E	Substitution - Missense	Skin
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM1420486	c.1113C>T	p.L371L	Substitution - coding silent	Large_intestine
COSM3915324	c.772C>T	p.P258S	Substitution - Missense	Skin
COSM356149	c.1795A>C	p.K599Q	Substitution - Missense	Lung
COSM3589903	c.380G>A	p.S127N	Substitution - Missense	Skin
COSM1685937	c.692C>T	p.S231F	Substitution - Missense	Skin
COSM4115104	c.1414G>C	p.D472H	Substitution - Missense	Stomach
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Breast
COSM4625003	c.1173T>C	p.S391S	Substitution - coding silent	Large_intestine
COSM1719479	c.2550C>T	p.F850F	Substitution - coding silent	Skin
COSM1693768	c.2437G>A	p.E813K	Substitution - Missense	Skin
COSM4805580	c.1948G>C	p.D650H	Substitution - Missense	Liver
COSM5577582	c.1568C>T	p.P523L	Substitution - Missense	Skin
COSM3589875	c.1474G>A	p.G492R	Substitution - Missense	Skin
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Endometrium
COSM131314	c.1283G>T	p.G428V	Substitution - Missense	Liver
COSM208001	c.10G>A	p.E4K	Substitution - Missense	Lung
COSM3589856	c.2016C>T	p.F672F	Substitution - coding silent	Skin
COSM3203615	c.1530A>G	p.P510P	Substitution - coding silent	Upper_aerodigestive_tract
COSM3915312	c.2191G>A	p.E731K	Substitution - Missense	Skin
COSM3945112	c.1851C>A	p.V617V	Substitution - coding silent	Lung
COSM4791080	c.1527C>G	p.L509L	Substitution - coding silent	Liver
COSM5000119	c.1913A>G	p.D638G	Substitution - Missense	Pancreas
COSM3203687	c.834T>G	p.L278L	Substitution - coding silent	Upper_aerodigestive_tract
COSM5355202	c.785C>T	p.A262V	Substitution - Missense	Large_intestine
COSM95872	c.855T>C	p.N285N	Substitution - coding silent	Lung
COSM1753006	c.1264G>C	p.E422Q	Substitution - Missense	Urinary_tract
COSM3589866	c.1643G>A	p.G548D	Substitution - Missense	Skin
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Endometrium
COSM5598489	c.2306C>T	p.S769L	Substitution - Missense	Skin
COSM3408415	c.9C>T	p.S3S	Substitution - coding silent	Central_nervous_system
COSM5418157	c.1772G>T	p.S591I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3589864	c.1756G>A	p.D586N	Substitution - Missense	Skin
COSM3589897	c.518C>T	p.S173L	Substitution - Missense	Skin
COSM4701394	c.686delC	p.T229fs*4	Deletion - Frameshift	Large_intestine
COSM3589905	c.267-1G>A	p.?	Unknown	Skin
COSM3203677	c.922C>T	p.P308S	Substitution - Missense	Skin
COSM3203708	c.612C>T	p.C204C	Substitution - coding silent	Upper_aerodigestive_tract
COSM5367631	c.1536_1537insT	p.P513fs*12	Insertion - Frameshift	Large_intestine
COSM4399886	c.1636C>A	p.Q546K	Substitution - Missense	Skin
COSM3589879	c.1183G>A	p.D395N	Substitution - Missense	Skin
COSM167069	c.2341C>T	p.R781C	Substitution - Missense	Oesophagus
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM234681	c.1629G>A	p.K543K	Substitution - coding silent	Skin
COSM3589842	c.2668G>A	p.D890N	Substitution - Missense	Skin
COSM4383717	c.2062G>A	p.A688T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4793547	c.132C>T	p.C44C	Substitution - coding silent	Liver
COSM4571035	c.3143T>C	p.I1048T	Substitution - Missense	Skin
COSM109835	c.64C>T	p.R22C	Substitution - Missense	Skin
COSM5597078	c.1240G>A	p.E414K	Substitution - Missense	Skin
COSM1040970	c.622C>T	p.R208C	Substitution - Missense	Endometrium
COSM4383114	c.1865C>A	p.A622D	Substitution - Missense	Large_intestine
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM1040972	c.613C>A	p.R205S	Substitution - Missense	Endometrium
COSM5918164	c.2279C>T	p.P760L	Substitution - Missense	Skin
COSM729201	c.2559C>G	p.N853K	Substitution - Missense	Lung
COSM5746207	c.1127C>T	p.S376F	Substitution - Missense	Pancreas
COSM4763475	c.652A>T	p.K218*	Substitution - Nonsense	Stomach
COSM729198	c.2037T>C	p.T679T	Substitution - coding silent	Lung
COSM3392199	c.914G>C	p.G305A	Substitution - Missense	Pancreas
COSM3720311	c.981A>G	p.L327L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM3203687	c.834T>G	p.L278L	Substitution - coding silent	Upper_aerodigestive_tract
COSM4157418	c.744T>G	p.G248G	Substitution - coding silent	Thyroid
COSM3589862	c.1832G>A	p.G611E	Substitution - Missense	Skin
COSM3589864	c.1756G>A	p.D586N	Substitution - Missense	Skin
COSM3589899	c.490G>A	p.E164K	Substitution - Missense	Skin
COSM1040975	c.503C>T	p.T168M	Substitution - Missense	Endometrium
COSM3203522	c.2933A>C	p.Q978P	Substitution - Missense	Large_intestine
COSM3408409	c.1227G>A	p.S409S	Substitution - coding silent	Central_nervous_system
COSM1753008	c.1234G>A	p.D412N	Substitution - Missense	Urinary_tract
COSM3203540	c.2535A>C	p.T845T	Substitution - coding silent	Large_intestine
COSM3589858	c.1912G>A	p.D638N	Substitution - Missense	Skin
COSM3203708	c.612C>T	p.C204C	Substitution - coding silent	Upper_aerodigestive_tract
COSM110007	c.1841G>A	p.G614E	Substitution - Missense	Skin
COSM1214801	c.928G>A	p.G310S	Substitution - Missense	Large_intestine
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM1040961	c.2672A>G	p.E891G	Substitution - Missense	Endometrium
COSM1420480	c.2542C>T	p.R848*	Substitution - Nonsense	Large_intestine
COSM4383721	c.1555A>G	p.M519V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM207998	c.1839delA	p.G614fs*30	Deletion - Frameshift	Large_intestine
COSM26577	c.2286-1G>A	p.?	Unknown	Skin
COSM3589887	c.899C>T	p.S300F	Substitution - Missense	Skin
COSM5398612	c.1621G>A	p.E541K	Substitution - Missense	Skin
COSM1420492	c.51A>C	p.E17D	Substitution - Missense	Large_intestine
COSM5514979	c.267-10C>A	p.?	Unknown	Biliary_tract
COSM3660326	c.360C>T	p.R120R	Substitution - coding silent	Liver
COSM3589832	c.3064C>T	p.H1022Y	Substitution - Missense	Skin
COSM1308800	c.790G>T	p.D264Y	Substitution - Missense	Urinary_tract
COSM1040963	c.2249G>A	p.R750Q	Substitution - Missense	Large_intestine
COSM1693779	c.1751_1752CC>TT	p.P584L	Substitution - Missense	Skin
COSM5639361	c.65G>A	p.R22H	Substitution - Missense	Oesophagus
COSM4383114	c.1865C>A	p.A622D	Substitution - Missense	Large_intestine
COSM4584095	c.1788T>C	p.S596S	Substitution - coding silent	Bone
COSM5033244	c.2041-3C>T	p.?	Unknown	Oesophagus
COSM3203561	c.2180G>A	p.R727Q	Substitution - Missense	Prostate
COSM3660320	c.1613C>T	p.S538L	Substitution - Missense	Liver
COSM1693766	c.2743G>A	p.E915K	Substitution - Missense	Skin
COSM3660322	c.1511C>A	p.P504H	Substitution - Missense	Liver
COSM1693776	c.1852G>A	p.E618K	Substitution - Missense	Skin
COSM3589860	c.1877C>T	p.S626F	Substitution - Missense	Skin
COSM5708546	c.435C>A	p.N145K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM479691	c.1408G>T	p.V470L	Substitution - Missense	Kidney
COSM5019110	c.2472G>A	p.S824S	Substitution - coding silent	Soft_tissue
COSM445921	c.1499C>A	p.A500D	Substitution - Missense	Breast
COSM4788115	c.1877C>G	p.S626C	Substitution - Missense	Liver
COSM4902804	c.1457G>A	p.G486D	Substitution - Missense	Skin
COSM3915306	c.2916G>A	p.R972R	Substitution - coding silent	Skin
COSM3203687	c.834T>G	p.L278L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1693762	c.2923G>A	p.E975K	Substitution - Missense	Skin
COSM345453	c.1147G>A	p.E383K	Substitution - Missense	Lung
COSM3203546	c.2468C>T	p.S823L	Substitution - Missense	Skin
COSM40064	c.2782G>A	p.D928N	Substitution - Missense	Skin
COSM479689	c.3095G>A	p.W1032*	Substitution - Nonsense	Kidney
COSM3915314	c.1708C>T	p.P570S	Substitution - Missense	Skin
COSM1719479	c.2550C>T	p.F850F	Substitution - coding silent	Skin
COSM3589911	c.219G>A	p.T73T	Substitution - coding silent	Bone

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
23776681	Overexpression (Mutation)	Acute Myeloid Leukemia	Overexpression of EVI1 in acute myeloid leukaemia (AML) is frequently associated with 3q26 rearrangements and confers extremely poor prognosis.
22887804	Overexpression (Mutation)	Acute Myeloid Leukemia	Elevated EVI1 expression was detected in nearly all cases with cryptic EVI1 rearrangements: Median %EVI1/ABL1 was 92.8 (range: 29.8-146.1) in inv(3)(p24q26), 104.9 (41.4-176.3) in t(3;21)(q26;q11), and 101.8 (4.4-210.4) in der(7)t(3;7)(q26;q21).
28538183	Mutation	Acute Myeloid Leukemia	Here, we compared the transcriptional networks of two types of AML with chromosomal translocations of the RUNX1 locus that fuse the RUNX1 DNA-binding domain to different regulators, the t(8;21) expressing RUNX1-ETO and the t(3;21) expressing RUNX1-EVI1. Despite containing the same DNA-binding domain, the two fusion proteins display distinct binding patterns, show differences in gene expression and chromatin landscape, and are dependent on different transcription factors. RUNX1-EVI1 directs a stem cell-like transcriptional network reliant on GATA2, whereas that of RUNX1-ETO-expressing cells is more mature and depends on RUNX1.
28338652	Mutation	Myeloproliferative Neoplasm	However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown. Here we reported 15 patients with classical Philadelphia chromosome-negative myeloproliferative neoplasms showing 3q26.2 rearrangement, including inv(3)(q21q26.2) (n=6), t(3;21)(q26.2;q22)(n=4), t(3;3)(q21;q26.2)(n=3), inv(3)(q13.3q26.2)(n=1), and t(3;12)(q26.2;p13)(n=1).

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q03112	538	S	Phosphoserine	-	No	None detected
Q03112	552	S	Phosphoserine	-	No	None detected
Q03112	858	S	Phosphoserine	-	No	None detected
Q03112	860	S	Phosphoserine	-	No	None detected

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.187	6.227	-0.128	0.799	NS
BRCA	Breast invasive carcinoma	112	1100	4.771	3.384	-1.351	3.09e-38	Under
CESC	Cervical and endocervical cancers	3	306	4.766	5.725	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.343	6.223	-0.101	0.456	NS
ESCA	Esophageal carcinoma	11	185	7.58	5.424	-1.586	0.0176	Under
GBM	Glioblastoma multiforme	5	166	2.494	3.345	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	4.553	3.196	-1.09	2.41e-05	Under
KIRC	Kidney renal clear cell carcinoma	72	534	7.982	4.989	-2.903	8.37e-79	Under
KIRP	Kidney renal papillary cell carcinoma	32	291	7.643	2.672	-4.742	8.99e-32	Under
LAML	Acute Myeloid Leukemia	0	173	NA	-2.809	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	2.481	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	1.249	1.907	0.964	2.66e-07	Over
LUAD	Lung adenocarcinoma	59	517	6.7	5.728	-0.96	1.13e-07	Under
LUSC	Lung squamous cell carcinoma	51	501	6.402	5.455	-1.155	3.17e-11	Under
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.987	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	4.566	5.682	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	0.361	2.773	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	4.656	3.329	-1.531	1.85e-21	Under
READ	Rectum adenocarcinoma	10	167	6.058	6.211	-0.024	0.934	NS
SARC	Sarcoma	2	263	5.419	3.89	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	0.9	1.493	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.412	6.819	0.287	0.228	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	1.857	NA	NA	NA
THCA	Thyroid carcinoma	59	509	2.88	3.757	1.004	1.96e-12	Over
THYM	Thymoma	2	120	2.551	2.595	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.182	7.426	1.446	8.03e-13	Over

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	5
Autonomic ganglia	CHP212	4.1
Autonomic ganglia	IMR32	3.9
Autonomic ganglia	KELLY	8.8
Autonomic ganglia	KPNRTBM1	4.1
Autonomic ganglia	KPNSI9S	6.9
Autonomic ganglia	KPNYN	3.7
Autonomic ganglia	MHHNB11	3.8
Autonomic ganglia	NB1	4
Autonomic ganglia	NH6	3.9
Autonomic ganglia	SHSY5Y	3.9
Autonomic ganglia	SIMA	3.9
Autonomic ganglia	SKNAS	4.3
Autonomic ganglia	SKNBE2	4.1
Autonomic ganglia	SKNDZ	4.9
Autonomic ganglia	SKNFI	4
Autonomic ganglia	SKNSH	5.6
Biliary tract	HUCCT1	9.2
Biliary tract	HUH28	7.2
Biliary tract	SNU1079	5.4
Biliary tract	SNU1196	5.1
Biliary tract	SNU245	9.6
Biliary tract	SNU308	9.8
Biliary tract	SNU478	9.3
Bone	143B	8.3
Bone	A673	3.9
Bone	CADOES1	3.7
Bone	CAL78	7.8
Bone	G292CLONEA141B1	5.1
Bone	HOS	7.4
Bone	HS706T	4.2
Bone	HS737T	7.1
Bone	HS819T	5.8
Bone	HS821T	5.1
Bone	HS822T	4.1
Bone	HS863T	4.8
Bone	HS870T	6.3
Bone	HS888T	9.2
Bone	MG63	4.7
Bone	MHHES1	4.9
Bone	OUMS27	8
Bone	RDES	4.1
Bone	SJSA1	7.9
Bone	SKES1	3.7
Bone	SKNMC	4.2
Bone	SW1353	6.7
Bone	T173	4.4
Bone	TC71	4.6
Bone	U2OS	7.3
Breast	AU565	5.9
Breast	BT20	7.1
Breast	BT474	5.2
Breast	BT483	4.9
Breast	BT549	4.8
Breast	CAL120	8.4
Breast	CAL148	4
Breast	CAL51	11.4
Breast	CAL851	7.7
Breast	CAMA1	6.7
Breast	DU4475	3.9
Breast	EFM192A	6.9
Breast	EFM19	4.2
Breast	EVSAT	8.1
Breast	HCC1143	5.5
Breast	HCC1187	4
Breast	HCC1395	5.4
Breast	HCC1419	4.7
Breast	HCC1428	5
Breast	HCC1500	7.9
Breast	HCC1569	3.7
Breast	HCC1599	4.1
Breast	HCC1806	8.6
Breast	HCC1937	6.1
Breast	HCC1954	8.4
Breast	HCC202	7.8
Breast	HCC2157	4.2
Breast	HCC2218	5.1
Breast	HCC38	4.1
Breast	HCC70	9.4
Breast	HDQP1	8.1
Breast	HMC18	4.8
Breast	HS274T	3.7
Breast	HS281T	7.9
Breast	HS343T	7
Breast	HS578T	6.2
Breast	HS606T	7.3
Breast	HS739T	8.1
Breast	HS742T	6.8
Breast	JIMT1	6.2
Breast	KPL1	6.4
Breast	MCF7	5.2
Breast	MDAMB134VI	7.7
Breast	MDAMB157	4.4
Breast	MDAMB175VII	8.3
Breast	MDAMB231	9.3
Breast	MDAMB361	6
Breast	MDAMB415	5.2
Breast	MDAMB436	5.6
Breast	MDAMB453	5.2
Breast	MDAMB468	3.9
Breast	SKBR3	7.6
Breast	T47D	7
Breast	UACC812	7
Breast	UACC893	3.9
Breast	YMB1	6.7
Breast	ZR751	7.9
Breast	ZR7530	7
Central nervous system	1321N1	7
Central nervous system	42MGBA	4.4
Central nervous system	8MGBA	6.8
Central nervous system	A172	5.4
Central nervous system	AM38	7.2
Central nervous system	BECKER	7.4
Central nervous system	CAS1	8
Central nervous system	CCFSTTG1	4.1
Central nervous system	D283MED	4
Central nervous system	D341MED	3.9
Central nervous system	DAOY	7.4
Central nervous system	DBTRG05MG	8.9
Central nervous system	DKMG	6.5
Central nervous system	GAMG	7.6
Central nervous system	GB1	7.1
Central nervous system	GI1	8.6
Central nervous system	GMS10	8
Central nervous system	GOS3	5.9
Central nervous system	H4	9
Central nervous system	HS683	8.5
Central nervous system	KALS1	7.4
Central nervous system	KG1C	7
Central nervous system	KNS42	6.9
Central nervous system	KNS60	8
Central nervous system	KNS81	8.5
Central nervous system	KS1	6.9
Central nervous system	LN18	7.2
Central nervous system	LN229	7.3
Central nervous system	M059K	6.6
Central nervous system	MOGGCCM	6.6
Central nervous system	MOGGUVW	7.5
Central nervous system	NMCG1	8.1
Central nervous system	ONS76	9.6
Central nervous system	SF126	8.8
Central nervous system	SF295	8.4
Central nervous system	SNB19	7
Central nervous system	SNU1105	8.6
Central nervous system	SNU201	9.1
Central nervous system	SNU466	4.3
Central nervous system	SNU489	8.2
Central nervous system	SNU626	3.8
Central nervous system	SNU738	7.7
Central nervous system	SW1088	6
Central nervous system	SW1783	7.8
Central nervous system	T98G	8.8
Central nervous system	TM31	4.6
Central nervous system	U118MG	8.5
Central nervous system	U138MG	6.5
Central nervous system	U251MG	5.2
Central nervous system	U87MG	6.9
Central nervous system	YH13	7.9
Central nervous system	YKG1	5.8
Endometrium	AN3CA	3.7
Endometrium	COLO684	5.2
Endometrium	EFE184	7.4
Endometrium	EN	3.6
Endometrium	ESS1	5.4
Endometrium	HEC108	6.5
Endometrium	HEC151	8
Endometrium	HEC1A	5.4
Endometrium	HEC1B	11.3
Endometrium	HEC251	10.1
Endometrium	HEC265	3.7
Endometrium	HEC50B	6.9
Endometrium	HEC59	11.6
Endometrium	HEC6	3.7
Endometrium	ISHIKAWAHERAKLIO02ER	11.5
Endometrium	JHUEM1	10.5
Endometrium	JHUEM2	4
Endometrium	JHUEM3	7.8
Endometrium	KLE	5.1
Endometrium	MFE280	7.1
Endometrium	MFE296	9
Endometrium	MFE319	11.3
Endometrium	RL952	4.7
Endometrium	SNGM	8.6
Endometrium	SNU1077	9.8
Endometrium	SNU685	7.8
Endometrium	TEN	10.5
Haematopoietic and lymphoid	697	4.2
Haematopoietic and lymphoid	A3KAW	5.1
Haematopoietic and lymphoid	A4FUK	3.9
Haematopoietic and lymphoid	ALLSIL	4.2
Haematopoietic and lymphoid	AML193	3.9
Haematopoietic and lymphoid	AMO1	4.1
Haematopoietic and lymphoid	BCP1	5
Haematopoietic and lymphoid	BDCM	4
Haematopoietic and lymphoid	BL41	4.1
Haematopoietic and lymphoid	BL70	4.2
Haematopoietic and lymphoid	BV173	4.3
Haematopoietic and lymphoid	CA46	4.3
Haematopoietic and lymphoid	CI1	4.6
Haematopoietic and lymphoid	CMK115	8.6
Haematopoietic and lymphoid	CMK86	8.8
Haematopoietic and lymphoid	CMK	8.2
Haematopoietic and lymphoid	CMLT1	3.8
Haematopoietic and lymphoid	COLO775	4.3
Haematopoietic and lymphoid	DAUDI	4.6
Haematopoietic and lymphoid	DB	4.1
Haematopoietic and lymphoid	DEL	7.2
Haematopoietic and lymphoid	DND41	3.8
Haematopoietic and lymphoid	DOHH2	3.9
Haematopoietic and lymphoid	EB1	4.2
Haematopoietic and lymphoid	EB2	4.1
Haematopoietic and lymphoid	EHEB	4.1
Haematopoietic and lymphoid	EJM	4.1
Haematopoietic and lymphoid	EM2	4.1
Haematopoietic and lymphoid	EOL1	4
Haematopoietic and lymphoid	F36P	8.2
Haematopoietic and lymphoid	GA10	3.8
Haematopoietic and lymphoid	GDM1	3.8
Haematopoietic and lymphoid	GRANTA519	4.8
Haematopoietic and lymphoid	HDLM2	5.5
Haematopoietic and lymphoid	HDMYZ	9.5
Haematopoietic and lymphoid	HEL9217	8.5
Haematopoietic and lymphoid	HEL	9.3
Haematopoietic and lymphoid	HH	4.2
Haematopoietic and lymphoid	HL60	3.9
Haematopoietic and lymphoid	HPBALL	5.5
Haematopoietic and lymphoid	HS604T	7.1
Haematopoietic and lymphoid	HS611T	4.1
Haematopoietic and lymphoid	HS616T	4.4
Haematopoietic and lymphoid	HS751T	4.7
Haematopoietic and lymphoid	HT	4.1
Haematopoietic and lymphoid	HTK	7.4
Haematopoietic and lymphoid	HUNS1	4.2
Haematopoietic and lymphoid	HUT102	3.7
Haematopoietic and lymphoid	HUT78	3.8
Haematopoietic and lymphoid	JEKO1	4.5
Haematopoietic and lymphoid	JK1	6.2
Haematopoietic and lymphoid	JM1	4.1
Haematopoietic and lymphoid	JURKAT	5.8
Haematopoietic and lymphoid	JURLMK1	4.1
Haematopoietic and lymphoid	JVM2	4.5
Haematopoietic and lymphoid	JVM3	4
Haematopoietic and lymphoid	K562	7.8
Haematopoietic and lymphoid	KARPAS299	3.9
Haematopoietic and lymphoid	KARPAS422	4
Haematopoietic and lymphoid	KARPAS620	4
Haematopoietic and lymphoid	KASUMI1	3.8
Haematopoietic and lymphoid	KASUMI2	5.2
Haematopoietic and lymphoid	KASUMI6	3.9
Haematopoietic and lymphoid	KCL22	4
Haematopoietic and lymphoid	KE37	4.2
Haematopoietic and lymphoid	KE97	3.9
Haematopoietic and lymphoid	KG1	4.2
Haematopoietic and lymphoid	KHM1B	4.1
Haematopoietic and lymphoid	KIJK	3.7
Haematopoietic and lymphoid	KMH2	8.6
Haematopoietic and lymphoid	KMM1	4.3
Haematopoietic and lymphoid	KMS11	5.1
Haematopoietic and lymphoid	KMS12BM	4
Haematopoietic and lymphoid	KMS18	3.8
Haematopoietic and lymphoid	KMS20	4.1
Haematopoietic and lymphoid	KMS21BM	4.5
Haematopoietic and lymphoid	KMS26	5.7
Haematopoietic and lymphoid	KMS27	4
Haematopoietic and lymphoid	KMS28BM	4.6
Haematopoietic and lymphoid	KMS34	4.5
Haematopoietic and lymphoid	KO52	3.9
Haematopoietic and lymphoid	KOPN8	4
Haematopoietic and lymphoid	KU812	7.8
Haematopoietic and lymphoid	KYO1	4.5
Haematopoietic and lymphoid	L1236	5.5
Haematopoietic and lymphoid	L363	4.3
Haematopoietic and lymphoid	L428	8
Haematopoietic and lymphoid	L540	5.9
Haematopoietic and lymphoid	LAMA84	4.2
Haematopoietic and lymphoid	LOUCY	4.2
Haematopoietic and lymphoid	LP1	5.7
Haematopoietic and lymphoid	M07E	7.6
Haematopoietic and lymphoid	MC116	4
Haematopoietic and lymphoid	ME1	4.2
Haematopoietic and lymphoid	MEC1	4.2
Haematopoietic and lymphoid	MEC2	3.7
Haematopoietic and lymphoid	MEG01	4.2
Haematopoietic and lymphoid	MHHCALL2	4
Haematopoietic and lymphoid	MHHCALL3	6.6
Haematopoietic and lymphoid	MHHCALL4	4.1
Haematopoietic and lymphoid	MINO	3.9
Haematopoietic and lymphoid	MJ	4.1
Haematopoietic and lymphoid	MM1S	3.8
Haematopoietic and lymphoid	MOLM13	4
Haematopoietic and lymphoid	MOLM16	8.7
Haematopoietic and lymphoid	MOLM6	7.8
Haematopoietic and lymphoid	MOLP2	4.1
Haematopoietic and lymphoid	MOLP8	4.8
Haematopoietic and lymphoid	MOLT13	6.3
Haematopoietic and lymphoid	MOLT16	4.2
Haematopoietic and lymphoid	MOLT4	4.4
Haematopoietic and lymphoid	MONOMAC1	3.8
Haematopoietic and lymphoid	MONOMAC6	3.7
Haematopoietic and lymphoid	MOTN1	3.9
Haematopoietic and lymphoid	MUTZ5	4
Haematopoietic and lymphoid	MV411	3.8
Haematopoietic and lymphoid	NALM19	4.1
Haematopoietic and lymphoid	NALM1	4.1
Haematopoietic and lymphoid	NALM6	4.3
Haematopoietic and lymphoid	NAMALWA	4.4
Haematopoietic and lymphoid	NB4	4
Haematopoietic and lymphoid	NCIH929	3.8
Haematopoietic and lymphoid	NCO2	8.6
Haematopoietic and lymphoid	NOMO1	3.9
Haematopoietic and lymphoid	NUDHL1	4.1
Haematopoietic and lymphoid	NUDUL1	3.9
Haematopoietic and lymphoid	OCIAML2	3.8
Haematopoietic and lymphoid	OCIAML3	4.3
Haematopoietic and lymphoid	OCIAML5	3.8
Haematopoietic and lymphoid	OCILY10	4
Haematopoietic and lymphoid	OCILY19	3.9
Haematopoietic and lymphoid	OCILY3	3.8
Haematopoietic and lymphoid	OCIM1	7.7
Haematopoietic and lymphoid	OPM2	5.2
Haematopoietic and lymphoid	P12ICHIKAWA	4.4
Haematopoietic and lymphoid	P31FUJ	4.1
Haematopoietic and lymphoid	P3HR1	4.5
Haematopoietic and lymphoid	PCM6	5.2
Haematopoietic and lymphoid	PEER	5.6
Haematopoietic and lymphoid	PF382	4.3
Haematopoietic and lymphoid	PFEIFFER	4.1
Haematopoietic and lymphoid	PL21	4
Haematopoietic and lymphoid	RAJI	4.1
Haematopoietic and lymphoid	RCHACV	3.8
Haematopoietic and lymphoid	REC1	3.9
Haematopoietic and lymphoid	REH	8.5
Haematopoietic and lymphoid	RI1	3.9
Haematopoietic and lymphoid	RL	4
Haematopoietic and lymphoid	RPMI8226	7.6
Haematopoietic and lymphoid	RPMI8402	9.3
Haematopoietic and lymphoid	RS411	4
Haematopoietic and lymphoid	SEM	4.1
Haematopoietic and lymphoid	SET2	7.8
Haematopoietic and lymphoid	SIGM5	4.1
Haematopoietic and lymphoid	SKM1	4.4
Haematopoietic and lymphoid	SKMM2	3.8
Haematopoietic and lymphoid	SR786	5
Haematopoietic and lymphoid	ST486	4.2
Haematopoietic and lymphoid	SUDHL10	3.9
Haematopoietic and lymphoid	SUDHL1	4
Haematopoietic and lymphoid	SUDHL4	3.8
Haematopoietic and lymphoid	SUDHL5	3.9
Haematopoietic and lymphoid	SUDHL6	3.8
Haematopoietic and lymphoid	SUDHL8	5.3
Haematopoietic and lymphoid	SUPB15	4.4
Haematopoietic and lymphoid	SUPHD1	8.2
Haematopoietic and lymphoid	SUPM2	4.2
Haematopoietic and lymphoid	SUPT11	3.8
Haematopoietic and lymphoid	SUPT1	7.8
Haematopoietic and lymphoid	TALL1	4.1
Haematopoietic and lymphoid	TF1	6.4
Haematopoietic and lymphoid	THP1	3.8
Haematopoietic and lymphoid	TO175T	4
Haematopoietic and lymphoid	TOLEDO	4.3
Haematopoietic and lymphoid	U266B1	4.1
Haematopoietic and lymphoid	U937	3.9
Haematopoietic and lymphoid	UT7	6.6
Haematopoietic and lymphoid	WSUDLCL2	3.9
Kidney	769P	8
Kidney	786O	7.4
Kidney	A498	6.9
Kidney	A704	7.4
Kidney	ACHN	7.8
Kidney	BFTC909	6
Kidney	CAKI1	7.6
Kidney	CAKI2	6.2
Kidney	CAL54	8.7
Kidney	KMRC1	6.2
Kidney	KMRC20	5.1
Kidney	KMRC2	8.5
Kidney	KMRC3	7.3
Kidney	OSRC2	7.7
Kidney	RCC10RGB	4.4
Kidney	SNU1272	6.6
Kidney	SNU349	8.8
Kidney	TUHR10TKB	5.7
Kidney	TUHR14TKB	6.1
Kidney	TUHR4TKB	6.3
Kidney	VMRCRCW	6
Kidney	VMRCRCZ	4.4
Large intestine	C2BBE1	8.2
Large intestine	CCK81	8.8
Large intestine	CL11	6.2
Large intestine	CL14	9.9
Large intestine	CL34	10.1
Large intestine	CL40	9.6
Large intestine	COLO205	7.6
Large intestine	COLO320	7.5
Large intestine	COLO678	5.3
Large intestine	CW2	8.7
Large intestine	DLD1	4.7
Large intestine	GP2D	9.6
Large intestine	HCC56	10.5
Large intestine	HCT116	4.8
Large intestine	HCT15	4.8
Large intestine	HS675T	3.6
Large intestine	HS698T	3.7
Large intestine	HT115	10.3
Large intestine	HT29	9.6
Large intestine	HT55	10.1
Large intestine	KM12	9.6
Large intestine	LOVO	8.3
Large intestine	LS1034	9.5
Large intestine	LS123	6.7
Large intestine	LS180	8.4
Large intestine	LS411N	8.8
Large intestine	LS513	9.7
Large intestine	MDST8	8
Large intestine	NCIH508	10.3
Large intestine	NCIH716	3.9
Large intestine	NCIH747	5.7
Large intestine	OUMS23	3.7
Large intestine	RCM1	8.3
Large intestine	RKO	7.8
Large intestine	SKCO1	10.6
Large intestine	SNU1040	11.5
Large intestine	SNU1197	8.5
Large intestine	SNU175	9.7
Large intestine	SNU283	9.8
Large intestine	SNU407	10.2
Large intestine	SNU503	6.9
Large intestine	SNU61	9.5
Large intestine	SNU81	10
Large intestine	SNUC1	10
Large intestine	SNUC2A	4.3
Large intestine	SNUC4	9.6
Large intestine	SNUC5	6.8
Large intestine	SW1116	8.8
Large intestine	SW1417	3.8
Large intestine	SW1463	9.5
Large intestine	SW403	9.2
Large intestine	SW480	4.1
Large intestine	SW48	5.1
Large intestine	SW620	3.8
Large intestine	SW837	5.3
Large intestine	SW948	8.9
Large intestine	T84	9.2
Liver	ALEXANDERCELLS	4
Liver	C3A	4
Liver	HEP3B217	7.5
Liver	HEPG2	3.9
Liver	HLE	4.1
Liver	HLF	4.3
Liver	HUH1	8.8
Liver	HUH6	6.8
Liver	HUH7	9.6
Liver	JHH1	12.5
Liver	JHH2	9.4
Liver	JHH4	7.1
Liver	JHH5	9.4
Liver	JHH6	4.9
Liver	JHH7	8.5
Liver	LI7	9.2
Liver	PLCPRF5	3.6
Liver	SKHEP1	6.9
Liver	SNU182	5.9
Liver	SNU387	8.3
Liver	SNU398	4.1
Liver	SNU423	8.9
Liver	SNU449	4
Liver	SNU475	6.7
Liver	SNU761	9
Liver	SNU878	9.6
Liver	SNU886	9.2
Lung	A549	3.9
Lung	ABC1	8.1
Lung	BEN	3.7
Lung	CAL12T	7.8
Lung	CALU1	8.7
Lung	CALU3	10.3
Lung	CALU6	9.1
Lung	CHAGOK1	10.5
Lung	COLO668	7.2
Lung	COLO699	6.6
Lung	CORL105	5
Lung	CORL23	8.5
Lung	CORL24	4.8
Lung	CORL279	6.7
Lung	CORL311	4
Lung	CORL47	4
Lung	CORL51	7.6
Lung	CORL88	7.2
Lung	CORL95	4.9
Lung	CPCN	7.1
Lung	DMS114	5.1
Lung	DMS153	7.4
Lung	DMS273	8
Lung	DMS454	3.9
Lung	DMS53	4.2
Lung	DMS79	4.3
Lung	DV90	10.7
Lung	EBC1	10
Lung	EPLC272H	5.4
Lung	HARA	8.2
Lung	HCC1171	8.2
Lung	HCC1195	3.8
Lung	HCC15	6.2
Lung	HCC2279	9
Lung	HCC2935	4.9
Lung	HCC33	4.1
Lung	HCC366	6.3
Lung	HCC4006	4.6
Lung	HCC44	7.3
Lung	HCC78	9.1
Lung	HCC827	9.1
Lung	HCC95	7.6
Lung	HLC1	3.7
Lung	HLFA	8.3
Lung	HS229T	7.9
Lung	HS618T	8.1
Lung	IALM	7.2
Lung	KNS62	9.9
Lung	LC1F	7.4
Lung	LC1SQSF	8.3
Lung	LCLC103H	6.6
Lung	LCLC97TM1	8.4
Lung	LK2	3.8
Lung	LOUNH91	4.2
Lung	LU65	6.3
Lung	LU99	8
Lung	LUDLU1	8.8
Lung	LXF289	7.3
Lung	MORCPR	4.1
Lung	NCIH1048	7.9
Lung	NCIH1092	7
Lung	NCIH1105	8
Lung	NCIH1155	4
Lung	NCIH1184	5.5
Lung	NCIH1299	8.8
Lung	NCIH1339	5.4
Lung	NCIH1341	9.3
Lung	NCIH1355	3.9
Lung	NCIH1373	8.7
Lung	NCIH1385	4.4
Lung	NCIH1395	7
Lung	NCIH1435	6.5
Lung	NCIH1436	7.7
Lung	NCIH1437	3.9
Lung	NCIH146	4
Lung	NCIH1563	8.2
Lung	NCIH1568	3.9
Lung	NCIH1573	4.8
Lung	NCIH1581	8.1
Lung	NCIH1618	6
Lung	NCIH1623	5.3
Lung	NCIH1648	9
Lung	NCIH1650	3.9
Lung	NCIH1651	5.2
Lung	NCIH1666	8.6
Lung	NCIH1693	9.1
Lung	NCIH1694	4.1
Lung	NCIH1703	4.5
Lung	NCIH1734	7.6
Lung	NCIH1755	6.7
Lung	NCIH1781	8.7
Lung	NCIH1792	9.7
Lung	NCIH1793	8.4
Lung	NCIH1836	7.6
Lung	NCIH1838	8.2
Lung	NCIH1869	8.2
Lung	NCIH1876	6.8
Lung	NCIH1915	9.5
Lung	NCIH1930	4.1
Lung	NCIH1944	9.2
Lung	NCIH1963	7.1
Lung	NCIH196	8.4
Lung	NCIH1975	9
Lung	NCIH2009	8.6
Lung	NCIH2023	8.7
Lung	NCIH2029	5.9
Lung	NCIH2030	5.7
Lung	NCIH2066	5.7
Lung	NCIH2081	8.1
Lung	NCIH2085	5.9
Lung	NCIH2087	7.7
Lung	NCIH209	6.5
Lung	NCIH2106	3.6
Lung	NCIH2110	4.6
Lung	NCIH211	4.4
Lung	NCIH2122	8.1
Lung	NCIH2126	4.1
Lung	NCIH2141	6.6
Lung	NCIH2170	8.4
Lung	NCIH2171	4
Lung	NCIH2172	3.8
Lung	NCIH2196	4.3
Lung	NCIH2227	4.2
Lung	NCIH2228	3.8
Lung	NCIH226	4.2
Lung	NCIH2286	4.3
Lung	NCIH2291	8.6
Lung	NCIH2342	7.5
Lung	NCIH2347	9.2
Lung	NCIH23	5.9
Lung	NCIH2405	7.4
Lung	NCIH2444	6.5
Lung	NCIH292	8.5
Lung	NCIH322	8.3
Lung	NCIH3255	8
Lung	NCIH358	8.8
Lung	NCIH441	7.9
Lung	NCIH446	3.8
Lung	NCIH460	3.8
Lung	NCIH510	4.9
Lung	NCIH520	3.9
Lung	NCIH522	4.2
Lung	NCIH524	5.2
Lung	NCIH526	4.1
Lung	NCIH596	9
Lung	NCIH647	8.7
Lung	NCIH650	8.3
Lung	NCIH661	4.8
Lung	NCIH69	7.6
Lung	NCIH727	6.2
Lung	NCIH810	5
Lung	NCIH82	5.6
Lung	NCIH838	3.9
Lung	NCIH841	4
Lung	NCIH854	3.7
Lung	NCIH889	6.6
Lung	PC14	8.7
Lung	RERFLCAD1	7.8
Lung	RERFLCAD2	7.8
Lung	RERFLCAI	7.7
Lung	RERFLCKJ	4.2
Lung	RERFLCMS	6.5
Lung	RERFLCSQ1	7.7
Lung	SBC5	4.8
Lung	SCLC21H	4
Lung	SHP77	5.1
Lung	SKLU1	9
Lung	SKMES1	9.3
Lung	SQ1	8.9
Lung	SW1271	6.5
Lung	SW1573	3.9
Lung	SW900	7.4
Lung	VMRCLCD	5.4
Lung	VMRCLCP	9.6
Oesophagus	COLO680N	5.7
Oesophagus	ECGI10	7.5
Oesophagus	KYSE140	7.2
Oesophagus	KYSE150	7.8
Oesophagus	KYSE180	7.7
Oesophagus	KYSE270	9.5
Oesophagus	KYSE30	8.4
Oesophagus	KYSE410	9.6
Oesophagus	KYSE450	7.5
Oesophagus	KYSE510	7.2
Oesophagus	KYSE520	7.9
Oesophagus	KYSE70	5.6
Oesophagus	OE19	8.3
Oesophagus	OE33	8.5
Oesophagus	TE10	7.5
Oesophagus	TE11	8.9
Oesophagus	TE14	8.5
Oesophagus	TE15	8.8
Oesophagus	TE1	4
Oesophagus	TE4	7.5
Oesophagus	TE5	11.2
Oesophagus	TE6	7.9
Oesophagus	TE8	6.8
Oesophagus	TE9	9.2
Oesophagus	TT	6.3
Ovary	59M	8.2
Ovary	A2780	4.2
Ovary	CAOV3	4
Ovary	CAOV4	9.9
Ovary	COLO704	6.9
Ovary	COV318	10.9
Ovary	COV362	9.9
Ovary	COV434	4.2
Ovary	COV504	10.2
Ovary	COV644	8.8
Ovary	EFO21	10
Ovary	EFO27	4.1
Ovary	ES2	9.2
Ovary	FUOV1	11
Ovary	HEYA8	10.4
Ovary	HS571T	3.6
Ovary	IGROV1	10.8
Ovary	JHOC5	6.7
Ovary	JHOM1	10.6
Ovary	JHOM2B	8.7
Ovary	JHOS2	7.9
Ovary	JHOS4	9.5
Ovary	KURAMOCHI	10.4
Ovary	MCAS	6.3
Ovary	NIHOVCAR3	8.8
Ovary	OAW28	10.8
Ovary	OAW42	11.4
Ovary	OC314	5.7
Ovary	OC316	5.9
Ovary	ONCODG1	8.5
Ovary	OV56	5.5
Ovary	OV7	7.3
Ovary	OV90	10.6
Ovary	OVCAR4	10.3
Ovary	OVCAR8	4
Ovary	OVISE	11.1
Ovary	OVK18	4.2
Ovary	OVKATE	9.4
Ovary	OVMANA	11.8
Ovary	OVSAHO	11
Ovary	OVTOKO	10.4
Ovary	RMGI	9.1
Ovary	RMUGS	5.9
Ovary	SKOV3	11.6
Ovary	SNU119	9.3
Ovary	SNU840	8.2
Ovary	SNU8	8.7
Ovary	TOV112D	4.2
Ovary	TOV21G	7.9
Ovary	TYKNU	10.2
Pancreas	ASPC1	8.2
Pancreas	BXPC3	9.3
Pancreas	CAPAN1	10.4
Pancreas	CAPAN2	9
Pancreas	CFPAC1	9.3
Pancreas	DANG	7.8
Pancreas	HPAC	10.3
Pancreas	HPAFII	9.1
Pancreas	HS766T	9.3
Pancreas	HUPT3	9.2
Pancreas	HUPT4	9.2
Pancreas	KCIMOH1	11.1
Pancreas	KLM1	6.8
Pancreas	KP2	6.7
Pancreas	KP3	8
Pancreas	KP4	5.4
Pancreas	L33	9
Pancreas	MIAPACA2	3.9
Pancreas	PANC0203	8.4
Pancreas	PANC0213	8
Pancreas	PANC0327	9.5
Pancreas	PANC0403	8.2
Pancreas	PANC0504	9.8
Pancreas	PANC0813	8.2
Pancreas	PANC1005	6.7
Pancreas	PANC1	4.3
Pancreas	PATU8902	10.1
Pancreas	PATU8988S	10.4
Pancreas	PATU8988T	7.4
Pancreas	PK1	8.7
Pancreas	PK45H	8.4
Pancreas	PK59	7.5
Pancreas	PL45	7.2
Pancreas	PSN1	8.8
Pancreas	QGP1	9
Pancreas	SNU213	8.3
Pancreas	SNU324	6.1
Pancreas	SNU410	8.6
Pancreas	SU8686	7.7
Pancreas	SUIT2	9.2
Pancreas	SW1990	9.8
Pancreas	T3M4	8.8
Pancreas	TCCPAN2	9.5
Pancreas	YAPC	4.8
Pleura	ACCMESO1	3.9
Pleura	DM3	7.4
Pleura	ISTMES1	4.1
Pleura	ISTMES2	4
Pleura	JL1	4.1
Pleura	MPP89	7.4
Pleura	MSTO211H	9.2
Pleura	NCIH2052	8.2
Pleura	NCIH2452	6
Pleura	NCIH28	5.8
Prostate	22RV1	6.3
Prostate	DU145	6.5
Prostate	LNCAPCLONEFGC	4.3
Prostate	MDAPCA2B	6.4
Prostate	NCIH660	7.8
Prostate	PC3	7.1
Prostate	VCAP	4.3
Salivary gland	A253	6.5
Salivary gland	YD15	8.9
Skin	A101D	5.4
Skin	A2058	3.5
Skin	A375	5.6
Skin	C32	4.4
Skin	CHL1	7
Skin	CJM	7.6
Skin	COLO679	4.3
Skin	COLO741	7.6
Skin	COLO783	4
Skin	COLO792	4
Skin	COLO800	3.9
Skin	COLO818	4.1
Skin	COLO829	3.7
Skin	COLO849	4.3
Skin	G361	5.1
Skin	GRM	7.7
Skin	HMCB	6.9
Skin	HS294T	4.7
Skin	HS600T	5.3
Skin	HS688AT	4.1
Skin	HS695T	4.8
Skin	HS839T	5.4
Skin	HS852T	7
Skin	HS895T	8.3
Skin	HS934T	4.2
Skin	HS936T	6.3
Skin	HS939T	4.2
Skin	HS940T	4.1
Skin	HS944T	7
Skin	HT144	5.8
Skin	IGR1	4.7
Skin	IGR37	4.4
Skin	IGR39	4.4
Skin	IPC298	3.9
Skin	K029AX	5.9
Skin	LOXIMVI	8.5
Skin	MALME3M	4.1
Skin	MDAMB435S	7.5
Skin	MELHO	5
Skin	MELJUSO	6.9
Skin	MEWO	8
Skin	RPMI7951	6.8
Skin	RVH421	3.9
Skin	SH4	4.3
Skin	SKMEL1	5.9
Skin	SKMEL24	6.6
Skin	SKMEL28	3.5
Skin	SKMEL2	4.1
Skin	SKMEL30	4.1
Skin	SKMEL31	4.9
Skin	SKMEL3	5.4
Skin	SKMEL5	3.9
Skin	UACC257	4
Skin	UACC62	6.8
Skin	WM115	4.6
Skin	WM1799	3.8
Skin	WM2664	4.3
Skin	WM793	6.9
Skin	WM88	4.1
Skin	WM983B	4.1
Small intestine	HUTU80	5.7
Soft tissue	A204	3.7
Soft tissue	G401	4.9
Soft tissue	G402	3.8
Soft tissue	GCT	7.9
Soft tissue	HS729	7.1
Soft tissue	HT1080	6.4
Soft tissue	KYM1	3.9
Soft tissue	MESSA	3.9
Soft tissue	RD	4
Soft tissue	RH30	6.2
Soft tissue	RH41	4.6
Soft tissue	RKN	6.9
Soft tissue	S117	7
Soft tissue	SJRH30	8.4
Soft tissue	SKLMS1	7.9
Soft tissue	SKUT1	3.9
Soft tissue	TE125T	3.9
Soft tissue	TE159T	4.4
Soft tissue	TE441T	4.1
Soft tissue	TE617T	3.7
Stomach	2313287	9
Stomach	AGS	9.2
Stomach	AZ521	4.3
Stomach	ECC10	3.8
Stomach	ECC12	4.1
Stomach	FU97	7.3
Stomach	GCIY	7.4
Stomach	GSS	4.5
Stomach	GSU	10.2
Stomach	HGC27	6.9
Stomach	HS746T	8.8
Stomach	HUG1N	10.9
Stomach	IM95	8.7
Stomach	KATOIII	8.5
Stomach	KE39	9
Stomach	LMSU	8.9
Stomach	MKN1	4.2
Stomach	MKN45	10.5
Stomach	MKN74	4
Stomach	MKN7	6.7
Stomach	NCCSTCK140	8.4
Stomach	NCIN87	9.4
Stomach	NUGC2	7.9
Stomach	NUGC3	5.8
Stomach	NUGC4	11.8
Stomach	OCUM1	6
Stomach	RERFGC1B	4.8
Stomach	SH10TC	7.1
Stomach	SNU16	8.9
Stomach	SNU1	4.1
Stomach	SNU216	8.6
Stomach	SNU520	11.2
Stomach	SNU5	5.4
Stomach	SNU601	9.3
Stomach	SNU620	9.7
Stomach	SNU668	5
Stomach	SNU719	7.7
Stomach	TGBC11TKB	8.4
Thyroid	8305C	8.7
Thyroid	8505C	7.8
Thyroid	BCPAP	8.4
Thyroid	BHT101	5.7
Thyroid	CAL62	9.4
Thyroid	CGTHW1	6.1
Thyroid	FTC133	3.9
Thyroid	FTC238	8.6
Thyroid	ML1	6.2
Thyroid	SW579	7.9
Thyroid	TT2609C02	7.3
Thyroid	TT	3.6
Upper aerodigestive tract	BHY	7.3
Upper aerodigestive tract	BICR16	6.9
Upper aerodigestive tract	BICR18	6.2
Upper aerodigestive tract	BICR22	8.7
Upper aerodigestive tract	BICR31	8.6
Upper aerodigestive tract	BICR56	7
Upper aerodigestive tract	BICR6	8
Upper aerodigestive tract	CAL27	7.5
Upper aerodigestive tract	CAL33	8.1
Upper aerodigestive tract	DETROIT562	9.5
Upper aerodigestive tract	FADU	8.7
Upper aerodigestive tract	HS840T	7.8
Upper aerodigestive tract	HSC2	7.6
Upper aerodigestive tract	HSC3	8.2
Upper aerodigestive tract	HSC4	8.4
Upper aerodigestive tract	PECAPJ15	8.7
Upper aerodigestive tract	PECAPJ34CLONEC12	8.4
Upper aerodigestive tract	PECAPJ41CLONED2	7.6
Upper aerodigestive tract	PECAPJ49	7.6
Upper aerodigestive tract	SCC15	8.2
Upper aerodigestive tract	SCC25	8.6
Upper aerodigestive tract	SCC4	8.5
Upper aerodigestive tract	SCC9	6.3
Upper aerodigestive tract	SNU1076	9.2
Upper aerodigestive tract	SNU1214	5.7
Upper aerodigestive tract	SNU46	8.2
Upper aerodigestive tract	SNU899	8.5
Upper aerodigestive tract	YD10B	6.5
Upper aerodigestive tract	YD38	7.7
Upper aerodigestive tract	YD8	8.3
Urinary tract	5637	7.9
Urinary tract	639V	7.6
Urinary tract	647V	6.5
Urinary tract	BC3C	9.4
Urinary tract	BFTC905	8.7
Urinary tract	CAL29	9.2
Urinary tract	HS172T	3.7
Urinary tract	HT1197	7.9
Urinary tract	HT1376	4.2
Urinary tract	J82	8.6
Urinary tract	JMSU1	10.5
Urinary tract	KMBC2	9.7
Urinary tract	KU1919	7.8
Urinary tract	RT11284	10.2
Urinary tract	RT112	9.5
Urinary tract	RT4	10.6
Urinary tract	SCABER	8.3
Urinary tract	SW1710	6.3
Urinary tract	SW780	10.6
Urinary tract	T24	9.1
Urinary tract	TCCSUP	4
Urinary tract	UMUC1	9.3
Urinary tract	UMUC3	8.2
Urinary tract	VMCUB1	8.4

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	14.3
Adrenal gland	1.3
Appendix	9.8
Bone marrow	0.4
Breast	4
Cerebral cortex	3.6
Cervix, uterine	33.4
Colon	25.4
Duodenum	20.7
Endometrium	30
Epididymis	5.8
Esophagus	15.3
Fallopian tube	39.3
Gallbladder	13.4
Heart muscle	9.6
Kidney	46.7
Liver	0.9
Lung	40.2
Lymph node	1.8
Ovary	1.7
Pancreas	4.1
Parathyroid gland	2.9
Placenta	25.4
Prostate	9.3
Rectum	33.9
Salivary gland	3.5
Seminal vesicle	12
Skeletal muscle	1.1
Skin	3
Small intestine	11.8
Smooth muscle	12.2
Spleen	9
Stomach	66.8
Testis	5.6
Thyroid gland	6.9
Tonsil	5.2
Urinary bladder	39

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
27617580	Aberrant Expression	Prostate Carcinoma	Instead, in a PCa progression cohort comprising 219 samples from patients with primary PCa, lymph node and distant metastases, EVI1 protein was heterogeneously distributed within samples and high expression is associated with tumor progression (P<0.001), suggesting EVI1 induction as a driver event.
26729571	Overexpression	Acute Myeloid Leukemia	However, EVI1 overexpression has been revealed as an important independent adverse prognostic marker in adult AML and defines distinct risk categories in 11q23-rearranged AML.
25959919	Overexpression	Hepatocellular Carcinoma	High EVI1 expression was significantly associated with larger tumor size and higher level of des-γ-carboxy prothrombin, a tumor marker for HCC.
25298035	Aberrant Expression	Acute Myeloid Leukemia	Aberrant expression of Evi1 is observed in 5% to 10% of de novo acute myeloid leukemia (AML) patients and predicts poor prognosis, reflecting multiple leukemogenic properties of Evi1.
23776681	Overexpression (Mutation)	Acute Myeloid Leukemia	Overexpression of EVI1 in acute myeloid leukaemia (AML) is frequently associated with 3q26 rearrangements and confers extremely poor prognosis.
22887804	Overexpression (Mutation)	Acute Myeloid Leukemia	Elevated EVI1 expression was detected in nearly all cases with cryptic EVI1 rearrangements: Median %EVI1/ABL1 was 92.8 (range: 29.8-146.1) in inv(3)(p24q26), 104.9 (41.4-176.3) in t(3;21)(q26;q11), and 101.8 (4.4-210.4) in der(7)t(3;7)(q26;q21).
21750091	Overexpression	Acute Myeloid Leukemia	Over-expression of EVI1 through either 3q26 rearrangements, MLL fusions, or other unknown mechanisms confers a poor prognosis in acute myeloid leukemia.
20462630	Overexpression	Ovarian Carcinoma	EVI1 and EVI1s mRNAs were ubiquitously expressed in ovarian cancers and benign gynecologic tissues examined, with highest expression of both isoforms noted in the cancer samples.
28603423	Overexpression	Squamous Cell Carcinoma	EVI1 high expression was significantly associated with a poorer overall 5-year survival rate of SCC (P=0.021). Moreover, EVI1 high expression was identified as an independent prognostic factor of SCC, predicting the unfavorable prognosis (P=0.013).
28209621	Overexpression	Breast Carcinoma	Analyzing a tissue microarray of 608 breast carcinoma patient specimens, we documented EVI1 overexpression in both estrogen receptor-positive (ER(+)) and estrogen receptor-negative (ER(-)) breast carcinomas.
27784745	Overexpression	Acute Myeloid Leukemia	RNA sequencing revealed distinct gene and miRNA expression patterns between the sole -7 and non -7 AML cases, with reduced expression, as expected, of many genes and miRNAs mapped to chromosome 7, and overexpression of ID1, MECOM, and PTPRM, among others.
27617580	Overexpression	Prostate Carcinoma	Instead, in a PCa progression cohort comprising 219 samples from patients with primary PCa, lymph node and distant metastases, EVI1 protein was heterogeneously distributed within samples and high expression is associated with tumor progression (P<0.001), suggesting EVI1 induction as a driver event.

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

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Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.084	0.0932	4.7	42.6	52.7	Gain
BRCA	Breast invasive carcinoma	1075	-0.081	0.00754	6	62.7	31.3	Neutral
CESC	Cervical and endocervical cancers	292	0.101	0.0836	1	21.9	77.1	Gain
COAD	Colon adenocarcinoma	449	0.09	0.0578	8	75.9	16	Neutral
ESCA	Esophageal carcinoma	183	-0.119	0.11	4.9	25.7	69.4	Gain
GBM	Glioblastoma multiforme	147	-0.06	0.473	6.8	73.5	19.7	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.25	8.97e-09	1.2	26.5	72.4	Gain
KIRC	Kidney renal clear cell carcinoma	525	-0.042	0.335	12.2	71.4	16.4	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.061	0.3	2.1	63.5	34.4	Gain
LAML	Acute Myeloid Leukemia	166	-0.186	0.0161	2.4	97	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.024	0.589	5.8	91.6	2.5	Neutral
LIHC	Liver hepatocellular carcinoma	364	-0.043	0.418	10.7	70.9	18.4	Neutral
LUAD	Lung adenocarcinoma	512	-0.011	0.796	18.9	47.9	33.2	Neutral
LUSC	Lung squamous cell carcinoma	498	0.047	0.298	0.4	9.8	89.8	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.196	0.000662	0.7	14.7	84.7	Gain
PAAD	Pancreatic adenocarcinoma	177	0.144	0.0565	9.6	72.9	17.5	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.014	0.856	58.6	41.4	0	Loss
PRAD	Prostate adenocarcinoma	491	0.066	0.146	2	80.7	17.3	Neutral
READ	Rectum adenocarcinoma	164	0.039	0.616	6.1	70.7	23.2	Neutral
SARC	Sarcoma	255	-0.083	0.186	20.4	62.7	16.9	Neutral
SKCM	Skin Cutaneous Melanoma	367	-0.062	0.233	15	64	21	Neutral
STAD	Stomach adenocarcinoma	413	0.173	0.000401	8.7	55	36.3	Gain
TGCT	Testicular Germ Cell Tumors	150	0.186	0.0225	11.3	56.7	32	Neutral
THCA	Thyroid carcinoma	497	0.008	0.851	0.8	98.8	0.4	Neutral
THYM	Thymoma	119	0.059	0.524	5.9	89.9	4.2	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.213	6.25e-07	1.3	65.4	33.3	Neutral

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

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Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.605	0	17	408	-0.25	8.57e-05	Decreased
BRCA	Breast invasive carcinoma	-0.1	0.00309	83	785	0.005	7.86e-32	NS/NA
CESC	Cervical and endocervical cancers	-0.581	0	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.366	2.77e-11	19	297	0.092	5.28e-08	NS/NA
ESCA	Esophageal carcinoma	-0.642	0	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.281	0.0238	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.289	8.05e-12	20	522	0	0.00599	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.332	3.79e-10	24	319	0.062	1.62e-24	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.378	1.96e-11	23	275	0.049	1.9e-19	NS/NA
LAML	Acute Myeloid Leukemia	-0.166	0.0308	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.17	8.68e-05	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.127	0.00946	41	373	0.013	1.47e-10	NS/NA
LUAD	Lung adenocarcinoma	-0.555	0	21	456	-0.034	0.219	NS/NA
LUSC	Lung squamous cell carcinoma	-0.611	0	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.767	0.0214	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.551	0	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.095	0.194	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.467	0	35	498	0.235	5.43e-13	Increased
READ	Rectum adenocarcinoma	-0.433	7.52e-06	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.294	1.37e-06	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.11	0.0171	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.583	0	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.382	1.05e-06	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.691	0	50	509	-0.117	3.37e-12	NS/NA
THYM	Thymoma	-0.315	0.000431	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.416	0	34	431	-0.267	3.77e-17	Decreased

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	3	High
Appendix	3	High
Bone marrow	1	Low
Breast	3	High
Bronchus	3	High
Caudate	3	High
Cerebellum	3	High
Cerebral cortex	3	High
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	3	High
Epididymis	3	High
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	3	High
Hippocampus	3	High
Kidney	3	High
Liver	2	Medium
Lung	3	High
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	3	High
Pancreas	3	High
Parathyroid gland	2	Medium
Placenta	3	High
Prostate	3	High
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	3	High
Skeletal muscle	3	High
Skin	3	High
Small intestine	3	High
Smooth muscle	3	High
Soft tissue	3	High
Spleen	3	High
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.104	NS	24476821
BRCA	Breast invasive carcinoma	521	2e-05	Significant	23000897
COAD	Colon adenocarcinoma	149	0.000764	Significant	22810696
GBM	Glioblastoma multiforme	157	0.261	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	1.55e-23	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.00368	Significant	26536169
LGG	Brain Lower Grade Glioma	513	5.9e-13	Significant	26824661
LUAD	Lung adenocarcinoma	230	9.47e-10	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.0396	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	9.29e-09	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.763	NS	26544944
READ	Rectum adenocarcinoma	67	0.0176	Significant	22810696
SKCM	Skin Cutaneous Melanoma	315	0.14	NS	26091043
STAD	Stomach adenocarcinoma	277	0.00117	Significant	25079317
THCA	Thyroid carcinoma	391	0.00167	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.000141	Significant	23636398

> Overall survival

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Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.499	0.00167	Longer
BRCA	Breast invasive carcinoma	1079	1.262	0.291	NS
CESC	Cervical and endocervical cancers	291	0.855	0.645	NS
COAD	Colon adenocarcinoma	439	0.675	0.156	NS
ESCA	Esophageal carcinoma	184	0.797	0.511	NS
GBM	Glioblastoma multiforme	158	0.966	0.909	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.861	0.453	NS
KIRC	Kidney renal clear cell carcinoma	531	0.656	0.0619	NS
KIRP	Kidney renal papillary cell carcinoma	287	3.875	0.00266	Shorter
LAML	Acute Myeloid Leukemia	149	0.645	0.146	NS
LGG	Brain Lower Grade Glioma	511	2.886	3.04e-05	Shorter
LIHC	Liver hepatocellular carcinoma	365	1.274	0.316	NS
LUAD	Lung adenocarcinoma	502	0.623	0.0212	Longer
LUSC	Lung squamous cell carcinoma	494	0.821	0.336	NS
OV	Ovarian serous cystadenocarcinoma	303	0.874	0.52	NS
PAAD	Pancreatic adenocarcinoma	177	3.505	0.00012	Shorter
PCPG	Pheochromocytoma and Paraganglioma	179	0	0.139	NS
PRAD	Prostate adenocarcinoma	497	1.008	0.994	NS
READ	Rectum adenocarcinoma	159	0.285	0.0194	Longer
SARC	Sarcoma	259	0.808	0.473	NS
SKCM	Skin Cutaneous Melanoma	459	0.878	0.499	NS
STAD	Stomach adenocarcinoma	388	1.024	0.918	NS
TGCT	Testicular Germ Cell Tumors	134	556017467.195	0.172	NS
THCA	Thyroid carcinoma	500	0.659	0.583	NS
THYM	Thymoma	119	3.071	0.306	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.473	0.192	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.158	0.00138	Lower
BRCA	Breast invasive carcinoma	1071	0.048	0.118	NS
CESC	Cervical and endocervical cancers	167	0.04	0.607	NS
COAD	Colon adenocarcinoma	445	-0.107	0.024	Lower
ESCA	Esophageal carcinoma	162	0.05	0.528	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.042	0.376	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.124	0.00422	Lower
KIRP	Kidney renal papillary cell carcinoma	260	0.35	6.47e-09	Higher
LIHC	Liver hepatocellular carcinoma	347	0.108	0.0454	Higher
LUAD	Lung adenocarcinoma	507	-0.115	0.00925	Lower
LUSC	Lung squamous cell carcinoma	497	-0.126	0.00507	Lower
OV	Ovarian serous cystadenocarcinoma	302	-0.158	0.00588	Lower
PAAD	Pancreatic adenocarcinoma	176	0.223	0.00289	Higher
READ	Rectum adenocarcinoma	156	-0.13	0.105	NS
SKCM	Skin Cutaneous Melanoma	410	0.041	0.41	NS
STAD	Stomach adenocarcinoma	392	0.079	0.116	NS
TGCT	Testicular Germ Cell Tumors	81	0.38	0.000461	Higher
THCA	Thyroid carcinoma	499	0.073	0.105	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.015	0.742	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.029	0.638	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.321	2.31e-13	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.153	0.000442	Lower
LGG	Brain Lower Grade Glioma	514	0.238	4.47e-08	Higher
LIHC	Liver hepatocellular carcinoma	366	0.053	0.309	NS
OV	Ovarian serous cystadenocarcinoma	296	0.022	0.713	NS
PAAD	Pancreatic adenocarcinoma	176	0.112	0.14	NS
STAD	Stomach adenocarcinoma	406	-0.017	0.74	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.029	0.499	NS

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database [ TOP ]
There is no record for MECOM.

Summary
Symbol	MECOM
Name	MDS1 and EVI1 complex locus
Aliases	MDS1-EVI1; PRDM3; MDS1; EVI1; myelodysplasia syndrome 1; ecotropic viral integration site 1; MDS1 and EVI1 c ......
Location	3q26.2
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
28538183	Acute Myeloid Leukemia	partner	RUNX1	Fusion	Here, we compared the transcriptional networks of two types of AML with chromosomal translocations of the RUNX1 locus that fuse the RUNX1 DNA-binding domain to different regulators, the t(8;21) expressing RUNX1-ETO and the t(3;21) expressing RUNX1-EVI1. Despite containing the same DNA-binding domain, the two fusion proteins display distinct binding patterns, show differences in gene expression and chromatin landscape, and are dependent on different transcription factors. RUNX1-EVI1 directs a stem cell-like transcriptional network reliant on GATA2, whereas that of RUNX1-ETO-expressing cells is more mature and depends on RUNX1. However, both types of AML are dependent on the continuous expression of the fusion proteins.