dbEM
A Database of Epigenetic Modifiers
Cite: Nanda JS, Kumar R, Raghava GP. (2016) dbEM: A database of epigenetic modifiers curated from cancerous and normal genomes. Sci Rep. 6:19340.
Protein: MBD1 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 Br15X CENTRAL NERVOUS SYSTEM c.1644G>T p.K548N COSMIC PASSENGER/OTHER Possibly Damaging 2 ESO-0133 OESOPHAGUS c.1327G>C p.A443P COSMIC PASSENGER/OTHER Possibly Damaging 3 ESO-859 OESOPHAGUS c.336G>A p.P112P COSMIC NP NP 4 HCC77T LIVER c.529G>A p.G177R COSMIC PASSENGER/OTHER Probably Damaging 5 HCT-15 LARGE INTESTINE c.1075A>G p.K359E COSMIC PASSENGER/OTHER Probably Damaging 6 HN_62686 UPPER AERODIGESTIVE TRACT c.863C>T p.P288L COSMIC PASSENGER/OTHER Benign 7 HN_63115 UPPER AERODIGESTIVE TRACT c.1409C>T p.P470L COSMIC PASSENGER/OTHER Probably Damaging 8 LUAD-B02216 LUNG c.1151G>T p.R384L COSMIC PASSENGER/OTHER Probably Damaging 9 LUAD-E00897 LUNG c.1700G>T p.G567V COSMIC PASSENGER/OTHER Probably Damaging 10 MHH-CALL-2 HAEMATOPOIETIC AND LYMPHOID TISSUE c.596C>T p.P199L COSMIC PASSENGER/OTHER Probably Damaging 11 SA083 BREAST c.1216C>T p.R406* COSMIC NP NP 12 SA084 BREAST c.302G>C p.G101A COSMIC PASSENGER/OTHER Benign 13 TARGET-30-PASRFS AUTONOMIC GANGLIA c.327G>T p.K109N COSMIC PASSENGER/OTHER Benign 14 TCGA-04-1542-01 OVARY c.1211G>A p.R404H COSMIC PASSENGER/OTHER Benign 15 TCGA-18-3416-01 LUNG c.1614G>A p.K538K COSMIC NP NP 16 TCGA-22-5478-01 LUNG c.908C>T p.P303L COSMIC PASSENGER/OTHER Benign 17 TCGA-30-1855-01 OVARY c.309G>A p.Q103Q COSMIC NP NP 18 TCGA-33-4532-01 LUNG c.961G>A p.V321I COSMIC PASSENGER/OTHER Probably Damaging 19 TCGA-33-4533-01 LUNG c.1367T>G p.L456R COSMIC PASSENGER/OTHER Probably Damaging 20 TCGA-55-1592-01 LUNG c.1522G>T p.E508* COSMIC NP NP 21 TCGA-55-5899-01 LUNG c.572G>T p.C191F COSMIC PASSENGER/OTHER Probably Damaging 22 TCGA-73-4662-01 LUNG c.1090G>T p.G364C COSMIC PASSENGER/OTHER Probably Damaging 23 TCGA-75-6206-01 LUNG c.1361C>G p.T454S COSMIC PASSENGER/OTHER Probably Damaging 24 TCGA-78-7154-01 LUNG c.833T>C p.M278T COSMIC PASSENGER/OTHER Benign 25 TCGA-A5-A0GW-01 ENDOMETRIUM c.181C>A p.L61I COSMIC PASSENGER/OTHER Probably Damaging 26 TCGA-A5-A0R8-01 ENDOMETRIUM c.65G>A p.R22H COSMIC PASSENGER/OTHER Probably Damaging 27 TCGA-A6-5665-01 LARGE INTESTINE c.1020C>A p.A340A COSMIC NP NP 28 TCGA-AA-3510-01 LARGE INTESTINE c.1303A>G p.T435A COSMIC PASSENGER/OTHER Benign 29 TCGA-AA-3672-01 LARGE INTESTINE c.742C>T p.R248C COSMIC PASSENGER/OTHER Probably Damaging 30 TCGA-AA-3821-01 LARGE INTESTINE c.685C>T p.R229W COSMIC PASSENGER/OTHER Probably Damaging 31 TCGA-AA-A00N-01 LARGE INTESTINE c.187G>A p.D63N COSMIC PASSENGER/OTHER Probably Damaging 32 TCGA-AA-A010-01 LARGE INTESTINE c.1216C>T p.R406* COSMIC NP NP 33 TCGA-AA-A010-01 LARGE INTESTINE c.1367T>G p.L456R COSMIC PASSENGER/OTHER Probably Damaging 34 TCGA-AD-5900-01 LARGE INTESTINE c.423_424delAG p.D143fs*29 COSMIC NP NP 35 TCGA-AO-A03T-01 BREAST c.1087G>A p.G363R COSMIC PASSENGER/OTHER Probably Damaging 36 TCGA-AP-A0LE-01 ENDOMETRIUM c.1123C>T p.R375C COSMIC PASSENGER/OTHER Probably Damaging 37 TCGA-AP-A0LM-01 ENDOMETRIUM c.54C>T p.R18R COSMIC NP NP 38 TCGA-AX-A0J0-01 ENDOMETRIUM c.562T>A p.C188S COSMIC PASSENGER/OTHER Probably Damaging 39 TCGA-AX-A0J0-01 ENDOMETRIUM c.64C>T p.R22C COSMIC PASSENGER/OTHER Probably Damaging 40 TCGA-AZ-6601-01 LARGE INTESTINE c.928C>T p.P310S COSMIC PASSENGER/OTHER Probably Damaging 41 TCGA-B0-4710-01 KIDNEY c.173A>G p.D58G COSMIC PASSENGER/OTHER Probably Damaging 42 TCGA-B5-A0JV-01 ENDOMETRIUM c.1556C>T p.P519L COSMIC PASSENGER/OTHER Possibly Damaging 43 TCGA-B5-A11E-01 ENDOMETRIUM c.49C>T p.R17C COSMIC PASSENGER/OTHER Probably Damaging 44 TCGA-BH-A0HA-01 BREAST c.455C>T p.T152M COSMIC PASSENGER/OTHER Probably Damaging 45 TCGA-BS-A0TC-01 ENDOMETRIUM c.1105C>T p.R369C COSMIC PASSENGER/OTHER Probably Damaging 46 TCGA-BS-A0UF-01 ENDOMETRIUM c.506G>A p.R169K COSMIC PASSENGER/OTHER Possibly Damaging 47 TCGA-BS-A0UF-01 ENDOMETRIUM c.648C>T p.L216L COSMIC NP NP 48 TCGA-BS-A0UF-01 ENDOMETRIUM c.64C>T p.R22C COSMIC PASSENGER/OTHER Probably Damaging 49 TCGA-CK-4952-01 LARGE INTESTINE c.1212T>C p.R404R COSMIC NP NP 50 TCGA-CZ-4866-01 KIDNEY c.141T>G p.V47V COSMIC NP NP 51 TCGA-D1-A103-01 ENDOMETRIUM c.1558G>A p.V520I COSMIC PASSENGER/OTHER Benign 52 TCGA-D1-A103-01 ENDOMETRIUM c.53G>A p.R18H COSMIC PASSENGER/OTHER Probably Damaging 53 TCGA-D1-A177-01 ENDOMETRIUM c.686G>T p.R229L COSMIC PASSENGER/OTHER Probably Damaging 54 TCGA-D5-6540-01 LARGE INTESTINE c.1037G>A p.R346Q COSMIC PASSENGER/OTHER Probably Damaging 55 TCGA-DI-A0WH-01 ENDOMETRIUM c.1758T>C p.D586D COSMIC NP NP 56 TCGA-E2-A15K-01 BREAST c.640C>T p.R214C COSMIC PASSENGER/OTHER Probably Damaging 57 TCGA-E2-A15K-06 BREAST c.640C>T p.R214C COSMIC PASSENGER/OTHER Probably Damaging 58 TCGA-G4-6628-01 LARGE INTESTINE c.1123C>T p.R375C COSMIC PASSENGER/OTHER Probably Damaging 59 TCGA-G4-6628-01 LARGE INTESTINE c.496C>T p.R166W COSMIC PASSENGER/OTHER Probably Damaging 60 YUGASP SKIN c.1429A>T p.T477S COSMIC PASSENGER/OTHER Possibly Damaging 61 YULAPE SKIN c.335delC p.P112fs*73 COSMIC NP NP 62 YUPORCH SKIN c.880C>T p.P294S COSMIC PASSENGER/OTHER Benign 63 YUSEL SKIN c.233C>T p.P78L COSMIC PASSENGER/OTHER Benign 64 cSCCP7 SKIN c.181C>T p.L61F COSMIC PASSENGER/OTHER Probably Damaging 65 ccRCC-34 KIDNEY c.1003_1010delAACCGCAA p.N335fs*57 COSMIC NP NP 66 ccRCC-34 KIDNEY c.1414C>T p.P472S COSMIC PASSENGER/OTHER Possibly Damaging 67 ccRCC-34 KIDNEY c.64C>T p.R22C COSMIC PASSENGER/OTHER Probably Damaging
*NP: Not Predicted -
Copy number variation and expression profile (+)
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Gene Essentiality Data (+)
Note: Lower the GARP score (more negative), higher the essentiality of the gene. P-value tells about the significane of GARP score.test -
Tertiary structure (+)
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Structure Domains (+)
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Sequence Alignment (+)
Users must enabled the Java in their browser to see sequence alignments.
Users can also download Java from here.1. Variants are not present in 1000 Genomes!!2. Mutants are not present in CCLE!!3. Sequence alignment with COSMIC mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 4. Sequence alignment with homologus proteins:
Click on button to get Sequence alignment with Coverage, Consensus and Quality -
Sequence Profiles (+)
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Post Translational Modifications (+)
S. No. Position Amino acid Type 1 295 S Phosphorylation 2 295 S Phosphorylation 3 297 S Phosphorylation 4 301 T Phosphorylation 5 301 T Phosphorylation 6 391 S Phosphorylation 7 391 S Phosphorylation 8 393 S Phosphorylation 9 399 S Phosphorylation 10 399 S Phosphorylation 11 403 Y Phosphorylation 12 422 K Ubiquitylation 13 422 K Acetylation 14 422 K Acetylation 15 499 K Sumoylation 16 499 K Sumoylation 17 505 T Phosphorylation 18 52 Y Phosphorylation 19 52 Y Phosphorylation 20 538 K Sumoylation 21 538 K Sumoylation 22 570 T Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR MBD1 MBD1 MBD1 ENSP00000269468 Q9UIS9 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q9UIS9 MBD1 ENSP00000269468 MBD1 Q9UIS9 Expression Atlas Protein Atlas OMIM IntAct PharmGKB MBD1 ENSP00000269468 156535 Q9UIS9 PA30659
