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: SMARCA1 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 2209 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1004G>A p.R335H COSMIC CANCER Probably Damaging 2 B099 BILIARY TRACT c.1594C>A p.L532M COSMIC PASSENGER/OTHER Probably Damaging 3 CHC302T LIVER c.478G>A p.E160K COSMIC PASSENGER/OTHER Possibly Damaging 4 ESO-1059 OESOPHAGUS c.2213A>T p.Q738L COSMIC PASSENGER/OTHER Possibly Damaging 5 HCC102T LIVER c.2954A>G p.Y985C COSMIC PASSENGER/OTHER Probably Damaging 6 LC_C19 LUNG c.2312A>G p.E771G COSMIC PASSENGER/OTHER Probably Damaging 7 LUAD-CHTN-Z4716A LUNG c.2506G>A p.D836N COSMIC PASSENGER/OTHER Possibly Damaging 8 LUAD-D01278 LUNG c.2754A>T p.Q918H COSMIC PASSENGER/OTHER Probably Damaging 9 LUAD-F00368 LUNG c.149C>A p.T50K COSMIC PASSENGER/OTHER Benign 10 LUAD-F00368 LUNG c.619G>T p.A207S COSMIC CANCER Probably Damaging 11 LUAD-NYU1101 LUNG c.2226G>T p.M742I COSMIC PASSENGER/OTHER Benign 12 LUAD-U6SJ7 LUNG c.3030_3030+1insTG p.E1011fs*10 COSMIC NP NP 13 OV207 OVARY c.2128delA p.M710fs*6 COSMIC NP NP 14 SJMB033 CENTRAL NERVOUS SYSTEM c.1714C>T p.L572L COSMIC NP NP 15 TCGA-05-4397-01 LUNG c.582G>A p.L194L COSMIC NP NP 16 TCGA-13-0761-01 OVARY c.585C>A p.I195I COSMIC NP NP 17 TCGA-21-5784-01 LUNG c.639G>T p.G213G COSMIC NP NP 18 TCGA-22-5473-01 LUNG c.103C>G p.Q35E COSMIC PASSENGER/OTHER Benign 19 TCGA-23-1114-01 OVARY c.2580G>C p.W860C COSMIC CANCER Probably Damaging 20 TCGA-24-1474-01 OVARY c.757C>T p.R253* COSMIC NP NP 21 TCGA-24-2289-01 OVARY c.2412T>C p.I804I COSMIC NP NP 22 TCGA-29-1768-01 OVARY c.1860C>G p.F620L COSMIC PASSENGER/OTHER Probably Damaging 23 TCGA-33-4533-01 LUNG c.1957A>T p.I653F COSMIC PASSENGER/OTHER Benign 24 TCGA-33-4566-01 LUNG c.1530G>T p.Q510H COSMIC PASSENGER/OTHER Probably Damaging 25 TCGA-34-5239-01 LUNG c.417T>G p.I139M COSMIC PASSENGER/OTHER Benign 26 TCGA-34-5240-01 LUNG c.446C>T p.T149I COSMIC PASSENGER/OTHER Probably Damaging 27 TCGA-36-1577-01 OVARY c.1574G>A p.R525H COSMIC PASSENGER/OTHER Probably Damaging 28 TCGA-38-4631-01 LUNG c.267C>A p.A89A COSMIC NP NP 29 TCGA-43-6647-01 LUNG c.513T>A p.F171L COSMIC PASSENGER/OTHER Probably Damaging 30 TCGA-44-6774-01 LUNG c.76G>T p.D26Y COSMIC PASSENGER/OTHER Possibly Damaging 31 TCGA-44-7670-01 LUNG c.1233G>C p.K411N COSMIC PASSENGER/OTHER Probably Damaging 32 TCGA-53-7624-01 LUNG c.224C>T p.S75F COSMIC PASSENGER/OTHER Possibly Damaging 33 TCGA-55-7574-01 LUNG c.2989C>T p.Q997* COSMIC NP NP 34 TCGA-69-7974-01 LUNG c.1029G>A p.L343L COSMIC NP NP 35 TCGA-69-7974-01 LUNG c.2728C>A p.Q910K COSMIC PASSENGER/OTHER Probably Damaging 36 TCGA-95-7043-01 LUNG c.106G>A p.E36K COSMIC PASSENGER/OTHER Possibly Damaging 37 TCGA-95-7043-01 LUNG c.1832T>G p.I611S COSMIC CANCER Probably Damaging 38 TCGA-95-7043-01 LUNG c.183T>C p.V61V COSMIC NP NP 39 TCGA-A1-A0SM-01 BREAST c.2359delC p.Q787fs*25 COSMIC NP NP 40 TCGA-A2-A0SY-01 BREAST c.1384C>G p.H462D COSMIC PASSENGER/OTHER Probably Damaging 41 TCGA-A2-A1FV-01 BREAST c.126G>A p.A42A COSMIC NP NP 42 TCGA-A2-A1FX-01 BREAST c.1455T>A p.S485R COSMIC PASSENGER/OTHER Possibly Damaging 43 TCGA-A2-A25B-01 BREAST c.962C>A p.S321Y COSMIC PASSENGER/OTHER Probably Damaging 44 TCGA-A3-3372-01 KIDNEY c.2147G>T p.R716I COSMIC PASSENGER/OTHER Probably Damaging 45 TCGA-A5-A0GP-01 ENDOMETRIUM c.460G>T p.D154Y COSMIC PASSENGER/OTHER Probably Damaging 46 TCGA-A5-A0VP-01 ENDOMETRIUM c.78C>T p.D26D COSMIC NP NP 47 TCGA-A5-A0VQ-01 ENDOMETRIUM c.149C>T p.T50M COSMIC PASSENGER/OTHER Possibly Damaging 48 TCGA-A6-3809-01 LARGE INTESTINE c.490delA p.T164fs*15 COSMIC NP NP 49 TCGA-A6-5665-01 LARGE INTESTINE c.169_171delAAG p.K57delK COSMIC NP NP 50 TCGA-A6-6781-01 LARGE INTESTINE c.169_171delAAG p.K57delK COSMIC NP NP 51 TCGA-A7-A26H-01 BREAST c.2665G>T p.G889C COSMIC PASSENGER/OTHER Probably Damaging 52 TCGA-AA-3529-01 LARGE INTESTINE c.1572G>A p.W524* COSMIC NP NP 53 TCGA-AA-3555-01 LARGE INTESTINE c.951G>T p.K317N COSMIC PASSENGER/OTHER Probably Damaging 54 TCGA-AA-3977-01 LARGE INTESTINE c.1900G>T p.E634* COSMIC NP NP 55 TCGA-AA-3977-01 LARGE INTESTINE c.386G>A p.R129Q COSMIC PASSENGER/OTHER Possibly Damaging 56 TCGA-AA-A00K-01 LARGE INTESTINE c.2713C>T p.R905C COSMIC PASSENGER/OTHER Probably Damaging 57 TCGA-AA-A00N-01 LARGE INTESTINE c.2535G>A p.E845E COSMIC NP NP 58 TCGA-AA-A01P-01 LARGE INTESTINE c.2503A>T p.I835F COSMIC PASSENGER/OTHER Possibly Damaging 59 TCGA-AA-A022-01 LARGE INTESTINE c.2553delA p.K851fs*33 COSMIC NP NP 60 TCGA-AD-6964-01 LARGE INTESTINE c.2128delA p.M710fs*6 COSMIC NP NP 61 TCGA-AF-2689-01 LARGE INTESTINE c.1245T>G p.I415M COSMIC PASSENGER/OTHER Possibly Damaging 62 TCGA-AF-4110-01 LARGE INTESTINE c.2761C>T p.R921C COSMIC PASSENGER/OTHER Probably Damaging 63 TCGA-AF-5654-01 LARGE INTESTINE c.2257C>T p.R753C COSMIC CANCER Probably Damaging 64 TCGA-AG-3892-01 LARGE INTESTINE c.443G>A p.R148H COSMIC PASSENGER/OTHER Probably Damaging 65 TCGA-AG-A002-01 LARGE INTESTINE c.686G>A p.R229Q COSMIC PASSENGER/OTHER Possibly Damaging 66 TCGA-AH-6643-01 LARGE INTESTINE c.2351C>G p.P784R COSMIC PASSENGER/OTHER Probably Damaging 67 TCGA-AP-A054-01 ENDOMETRIUM c.1050G>A p.L350L COSMIC NP NP 68 TCGA-AP-A056-01 ENDOMETRIUM c.1299A>C p.K433N COSMIC PASSENGER/OTHER Possibly Damaging 69 TCGA-AP-A056-01 ENDOMETRIUM c.2978G>A p.R993Q COSMIC PASSENGER/OTHER Probably Damaging 70 TCGA-AP-A056-01 ENDOMETRIUM c.386G>A p.R129Q COSMIC PASSENGER/OTHER Possibly Damaging 71 TCGA-AP-A056-01 ENDOMETRIUM c.886G>T p.E296* COSMIC NP NP 72 TCGA-AP-A059-01 ENDOMETRIUM c.2673C>A p.S891S COSMIC NP NP 73 TCGA-AP-A05J-01 ENDOMETRIUM c.1794A>T p.P598P COSMIC NP NP 74 TCGA-AU-3779-01 LARGE INTESTINE c.2716T>C p.C906R COSMIC PASSENGER/OTHER Possibly Damaging 75 TCGA-AU-3779-01 LARGE INTESTINE c.794G>T p.G265V COSMIC CANCER Probably Damaging 76 TCGA-AX-A0J0-01 ENDOMETRIUM c.2147G>T p.R716I COSMIC PASSENGER/OTHER Probably Damaging 77 TCGA-AX-A0J1-01 ENDOMETRIUM c.2875G>T p.G959* COSMIC NP NP 78 TCGA-AX-A0J1-01 ENDOMETRIUM c.668G>A p.G223D COSMIC PASSENGER/OTHER Probably Damaging 79 TCGA-AY-6197-01 LARGE INTESTINE c.891_892insA p.S298fs*14 COSMIC NP NP 80 TCGA-AZ-6599-01 LARGE INTESTINE c.758G>T p.R253L COSMIC PASSENGER/OTHER Probably Damaging 81 TCGA-B5-A0JY-01 ENDOMETRIUM c.2590G>A p.D864N COSMIC PASSENGER/OTHER Probably Damaging 82 TCGA-B5-A0K9-01 ENDOMETRIUM c.1458T>A p.G486G COSMIC NP NP 83 TCGA-B5-A11E-01 ENDOMETRIUM c.1498G>T p.E500* COSMIC NP NP 84 TCGA-B5-A11E-01 ENDOMETRIUM c.2557C>G p.L853V COSMIC PASSENGER/OTHER Probably Damaging 85 TCGA-BG-A0MG-01 ENDOMETRIUM c.1497_1500delAGAA p.K499fs*12 COSMIC NP NP 86 TCGA-BG-A18A-01 ENDOMETRIUM c.1852C>T p.R618C COSMIC CANCER Probably Damaging 87 TCGA-BG-A18B-01 ENDOMETRIUM c.1497_1498insA p.E500fs*29 COSMIC NP NP 88 TCGA-BS-A0TC-01 ENDOMETRIUM c.2654G>A p.R885Q COSMIC PASSENGER/OTHER Benign 89 TCGA-BS-A0TC-01 ENDOMETRIUM c.3044G>A p.R1015H COSMIC CANCER Probably Damaging 90 TCGA-BS-A0UF-01 ENDOMETRIUM c.1109C>A p.S370Y COSMIC PASSENGER/OTHER Probably Damaging 91 TCGA-BS-A0UF-01 ENDOMETRIUM c.1639G>T p.E547* COSMIC NP NP 92 TCGA-BS-A0UF-01 ENDOMETRIUM c.468G>A p.E156E COSMIC NP NP 93 TCGA-BS-A0UJ-01 ENDOMETRIUM c.2475T>C p.A825A COSMIC NP NP 94 TCGA-BS-A0UJ-01 ENDOMETRIUM c.2T>C p.M1T COSMIC PASSENGER/OTHER Benign 95 TCGA-BS-A0UV-01 ENDOMETRIUM c.1242G>T p.K414N COSMIC PASSENGER/OTHER Possibly Damaging 96 TCGA-CA-6717-01 LARGE INTESTINE c.2783G>A p.R928Q COSMIC PASSENGER/OTHER Probably Damaging 97 TCGA-CH-5768-01 PROSTATE c.2829C>A p.Y943* COSMIC NP NP 98 TCGA-CI-6621-01 LARGE INTESTINE c.608A>G p.N203S COSMIC PASSENGER/OTHER Possibly Damaging 99 TCGA-CK-6747-01 LARGE INTESTINE c.169_171delAAG p.K57delK COSMIC NP NP 100 TCGA-CM-5861-01 LARGE INTESTINE c.583A>G p.I195V COSMIC PASSENGER/OTHER Benign 101 TCGA-CW-5585-01 KIDNEY c.1084T>C p.F362L COSMIC PASSENGER/OTHER Probably Damaging 102 TCGA-CZ-5467-01 KIDNEY c.272G>A p.R91Q COSMIC PASSENGER/OTHER Possibly Damaging 103 TCGA-D1-A103-01 ENDOMETRIUM c.2147G>T p.R716I COSMIC PASSENGER/OTHER Probably Damaging 104 TCGA-D1-A103-01 ENDOMETRIUM c.2996G>T p.R999I COSMIC PASSENGER/OTHER Probably Damaging 105 TCGA-D1-A103-01 ENDOMETRIUM c.829G>T p.E277* COSMIC NP NP 106 TCGA-D1-A16R-01 ENDOMETRIUM c.524C>A p.P175H COSMIC PASSENGER/OTHER Probably Damaging 107 TCGA-D1-A16X-01 ENDOMETRIUM c.177A>C p.K59N COSMIC PASSENGER/OTHER Probably Damaging 108 TCGA-D5-6536-01 LARGE INTESTINE c.1574G>A p.R525H COSMIC PASSENGER/OTHER Probably Damaging 109 TCGA-D5-6541-01 LARGE INTESTINE c.759A>G p.R253R COSMIC NP NP 110 TCGA-DI-A0WH-01 ENDOMETRIUM c.2867C>A p.T956N COSMIC PASSENGER/OTHER Benign 111 TCGA-DM-A28G-01 LARGE INTESTINE c.983G>A p.R328H COSMIC PASSENGER/OTHER Probably Damaging 112 TCGA-E6-A1LZ-01 ENDOMETRIUM c.2685C>A p.V895V COSMIC NP NP 113 TCGA-E9-A1RB-01 BREAST c.433C>T p.R145C COSMIC PASSENGER/OTHER Probably Damaging 114 TCGA-G4-6586-01 LARGE INTESTINE c.2257C>T p.R753C COSMIC CANCER Probably Damaging 115 YUFLA SKIN c.1675G>A p.A559T COSMIC PASSENGER/OTHER Benign 116 YUZINO SKIN c.2978G>A p.R993Q COSMIC PASSENGER/OTHER Probably Damaging 117 ccRCC-11 KIDNEY c.1462delA p.M488fs*2 COSMIC NP NP 118 ccRCC-2 KIDNEY c.2185T>G p.F729V COSMIC PASSENGER/OTHER Probably Damaging 119 pfg020T STOMACH c.2896G>A p.E966K 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.Gene essentiality data is not present in COLT database!! -
Tertiary structure (+)
Users must enabled the Java in their browser to see structure.
Users can also download Java from here.Modelled Structure Structures available in PDB -
Structure Domains (+)
1. PFAM domains are not present!!2. Superfaimly domains are not present!! -
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:4. Sequence alignment with homologus proteins: -
Sequence Profiles (+)
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Post Translational Modifications (+)
Post translational modifications are not found!!Other Databases Link (+)
