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: SMARCA5 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 587284 LARGE INTESTINE c.1279A>G p.I427V COSMIC PASSENGER/OTHER Benign 2 587316 LARGE INTESTINE c.2921G>A p.R974Q COSMIC PASSENGER/OTHER Possibly Damaging 3 587328 LARGE INTESTINE c.430C>T p.R144C COSMIC PASSENGER/OTHER Probably Damaging 4 587376 LARGE INTESTINE c.1502G>A p.R501Q COSMIC PASSENGER/OTHER Probably Damaging 5 ESO-152 OESOPHAGUS c.3057G>C p.E1019D COSMIC PASSENGER/OTHER Possibly Damaging 6 H1155 LUNG c.2258G>A p.R753H COSMIC PASSENGER/OTHER Probably Damaging 7 HCC2998 LARGE INTESTINE c.893A>C p.K298T COSMIC PASSENGER/OTHER Possibly Damaging 8 HN_63021 UPPER AERODIGESTIVE TRACT c.3128G>T p.G1043V COSMIC PASSENGER/OTHER Benign 9 LC_C7 LUNG c.1502G>A p.R501Q COSMIC PASSENGER/OTHER Probably Damaging 10 LC_C9 LUNG c.368G>T p.G123V COSMIC PASSENGER/OTHER Benign 11 LUAD-NYU284 LUNG c.1806C>G p.V602V COSMIC NP NP 12 LUAD-S01357 LUNG c.2985_2985+1insGT p.E996fs*10 COSMIC NP NP 13 LUAD_E01147 LUNG c.1666A>G p.M556V COSMIC PASSENGER/OTHER Benign 14 ME002T SKIN c.496A>G p.T166A COSMIC PASSENGER/OTHER Benign 15 MS4 LARGE INTESTINE c.263G>A p.R88Q COSMIC PASSENGER/OTHER Possibly Damaging 16 MZ7-mel SKIN c.457G>A p.E153K COSMIC PASSENGER/OTHER Possibly Damaging 17 RK159_C01 LIVER c.1506A>G p.V502V COSMIC NP NP 18 TCGA-05-4250-01 LUNG c.2907T>C p.V969V COSMIC NP NP 19 TCGA-18-3406-01 LUNG c.1276C>A p.R426R COSMIC NP NP 20 TCGA-18-4721-01 LUNG c.2736A>G p.Q912Q COSMIC NP NP 21 TCGA-44-7660-01 LUNG c.190G>C p.D64H COSMIC PASSENGER/OTHER Possibly Damaging 22 TCGA-78-7539-01 LUNG c.2494G>C p.E832Q COSMIC PASSENGER/OTHER Benign 23 TCGA-95-7039-01 LUNG c.362A>T p.K121I COSMIC PASSENGER/OTHER Possibly Damaging 24 TCGA-95-7043-01 LUNG c.2942C>T p.P981L COSMIC PASSENGER/OTHER Probably Damaging 25 TCGA-A5-A0GP-01 ENDOMETRIUM c.2677G>A p.E893K COSMIC PASSENGER/OTHER Possibly Damaging 26 TCGA-A8-A07W-01 BREAST c.1759C>A p.L587I COSMIC PASSENGER/OTHER Possibly Damaging 27 TCGA-A8-A093-01 BREAST c.2707C>T p.Q903* COSMIC NP NP 28 TCGA-AA-3554-01 LARGE INTESTINE c.1677G>A p.T559T COSMIC NP NP 29 TCGA-AA-3984-01 LARGE INTESTINE c.2164A>C p.K722Q COSMIC PASSENGER/OTHER Possibly Damaging 30 TCGA-AA-A00N-01 LARGE INTESTINE c.377G>A p.R126Q COSMIC PASSENGER/OTHER Benign 31 TCGA-AA-A010-01 LARGE INTESTINE c.3144G>T p.K1048N COSMIC PASSENGER/OTHER Benign 32 TCGA-AG-3892-01 LARGE INTESTINE c.799A>C p.R267R COSMIC NP NP 33 TCGA-AG-A002-01 LARGE INTESTINE c.1184G>A p.R395Q COSMIC CANCER Probably Damaging 34 TCGA-AG-A002-01 LARGE INTESTINE c.2543G>T p.R848I COSMIC PASSENGER/OTHER Possibly Damaging 35 TCGA-AG-A002-01 LARGE INTESTINE c.2635G>T p.E879* COSMIC NP NP 36 TCGA-AG-A002-01 LARGE INTESTINE c.500G>A p.R167Q COSMIC PASSENGER/OTHER Benign 37 TCGA-AP-A059-01 ENDOMETRIUM c.1607A>C p.D536A COSMIC CANCER Benign 38 TCGA-AP-A059-01 ENDOMETRIUM c.2467G>A p.A823T COSMIC PASSENGER/OTHER Possibly Damaging 39 TCGA-AP-A059-01 ENDOMETRIUM c.3076C>T p.R1026* COSMIC NP NP 40 TCGA-AX-A05Z-01 ENDOMETRIUM c.2131G>A p.V711I COSMIC PASSENGER/OTHER Benign 41 TCGA-AX-A05Z-01 ENDOMETRIUM c.2138A>C p.N713T COSMIC PASSENGER/OTHER Benign 42 TCGA-AX-A0J0-01 ENDOMETRIUM c.2546A>C p.D849A COSMIC PASSENGER/OTHER Probably Damaging 43 TCGA-AX-A0J0-01 ENDOMETRIUM c.3131G>A p.R1044Q COSMIC PASSENGER/OTHER Possibly Damaging 44 TCGA-AX-A0J0-01 ENDOMETRIUM c.425G>A p.R142Q COSMIC PASSENGER/OTHER Probably Damaging 45 TCGA-AZ-4315-01 LARGE INTESTINE c.1641A>C p.E547D COSMIC PASSENGER/OTHER Benign 46 TCGA-AZ-6601-01 LARGE INTESTINE c.1678C>T p.R560C COSMIC PASSENGER/OTHER Probably Damaging 47 TCGA-AZ-6601-01 LARGE INTESTINE c.2390G>T p.G797V COSMIC PASSENGER/OTHER Probably Damaging 48 TCGA-B2-3923-01 KIDNEY c.1365A>G p.K455K COSMIC NP NP 49 TCGA-B5-A0JY-01 ENDOMETRIUM c.205A>C p.K69Q COSMIC PASSENGER/OTHER Benign 50 TCGA-B5-A0JY-01 ENDOMETRIUM c.2882A>C p.K961T COSMIC PASSENGER/OTHER Benign 51 TCGA-B5-A11E-01 ENDOMETRIUM c.2871T>C p.C957C COSMIC NP NP 52 TCGA-B5-A11N-01 ENDOMETRIUM c.500G>A p.R167Q COSMIC PASSENGER/OTHER Benign 53 TCGA-BP-5010-01 KIDNEY c.2992C>A p.Q998K COSMIC PASSENGER/OTHER Benign 54 TCGA-BS-A0UF-01 ENDOMETRIUM c.2022C>T p.I674I COSMIC NP NP 55 TCGA-BS-A0UF-01 ENDOMETRIUM c.2503G>T p.E835* COSMIC NP NP 56 TCGA-BS-A0UJ-01 ENDOMETRIUM c.2953T>C p.F985L COSMIC PASSENGER/OTHER Possibly Damaging 57 TCGA-BS-A0UM-01 ENDOMETRIUM c.3041A>G p.E1014G COSMIC PASSENGER/OTHER Possibly Damaging 58 TCGA-BS-A0UV-01 ENDOMETRIUM c.949A>C p.K317Q COSMIC PASSENGER/OTHER Benign 59 TCGA-CA-6717-01 LARGE INTESTINE c.2858G>A p.R953H COSMIC PASSENGER/OTHER Probably Damaging 60 TCGA-CI-6624-01 LARGE INTESTINE c.1869G>T p.M623I COSMIC CANCER Benign 61 TCGA-CJ-4903-01 KIDNEY c.2213G>A p.R738K COSMIC PASSENGER/OTHER Possibly Damaging 62 TCGA-CM-6171-01 LARGE INTESTINE c.430C>T p.R144C COSMIC PASSENGER/OTHER Probably Damaging 63 TCGA-D1-A103-01 ENDOMETRIUM c.1756G>A p.D586N COSMIC PASSENGER/OTHER Probably Damaging 64 TCGA-D1-A15X-01 ENDOMETRIUM c.2594T>C p.I865T COSMIC PASSENGER/OTHER Benign 65 TCGA-D1-A16Y-01 ENDOMETRIUM c.425G>A p.R142Q COSMIC PASSENGER/OTHER Probably Damaging 66 TCGA-D1-A17B-01 ENDOMETRIUM c.2572G>A p.E858K COSMIC PASSENGER/OTHER Possibly Damaging 67 TCGA-D1-A17Q-01 ENDOMETRIUM c.894A>C p.K298N COSMIC PASSENGER/OTHER Benign 68 TCGA-DK-A1AB-01 URINARY TRACT c.2899G>C p.E967Q COSMIC PASSENGER/OTHER Benign 69 TCGA-DM-A28H-01 LARGE INTESTINE c.457G>A p.E153K COSMIC PASSENGER/OTHER Possibly Damaging 70 TCGA-EJ-7321-01 PROSTATE c.854C>T p.T285I COSMIC CANCER Probably Damaging 71 TCGA-F4-6704-01 LARGE INTESTINE c.458A>G p.E153G COSMIC PASSENGER/OTHER Possibly Damaging 72 TCGA-F4-6856-01 LARGE INTESTINE c.3118G>A p.A1040T COSMIC PASSENGER/OTHER Benign
*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 (+)
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 is not available in PDB -
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. Sequence alignment with 1000 genome variations:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 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 1 113 T Phosphorylation 2 113 T Phosphorylation 3 115 T Phosphorylation 4 115 T Phosphorylation 5 116 S Phosphorylation 6 116 S Phosphorylation 7 132 K Ubiquitylation 8 137 S Phosphorylation 9 137 S Phosphorylation 10 160 K Ubiquitylation 11 176 K Ubiquitylation 12 2 S Acetylation 13 2 S Phosphorylation 14 254 T Phosphorylation 15 257 S Phosphorylation 16 418 K Ubiquitylation 17 430 K Ubiquitylation 18 440 K Acetylation 19 440 K Acetylation 20 506 S Phosphorylation 21 647 K Ubiquitylation 22 66 S Phosphorylation 23 66 S Phosphorylation 24 699 S Phosphorylation 25 699 S Phosphorylation 26 724 K Ubiquitylation 27 755 S Phosphorylation 28 755 S Phosphorylation 29 814 K Ubiquitylation 30 825 S Phosphorylation 31 83 K Ubiquitylation 32 834 K Ubiquitylation 33 836 K Ubiquitylation 34 847 K Ubiquitylation 35 99 T Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR SMARCA5 SMARCA5 SMARCA5 ENSP00000283131 O60264 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt O60264 SMARCA5 ENSP00000283131 SMARCA5 O60264 Expression Atlas Protein Atlas OMIM IntAct PharmGKB SMARCA5 ENSP00000283131 603375 O60264 PA35951
