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: ACTL6A |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 1946219 LUNG c.487delG p.G163fs*6 COSMIC NP NP 2 587376 LARGE INTESTINE c.471G>T p.L157F COSMIC PASSENGER/OTHER Probably Damaging 3 HCC2998 LARGE INTESTINE c.785T>G p.F262C COSMIC PASSENGER/OTHER Probably Damaging 4 HCC65T LIVER c.629T>G p.F210C COSMIC PASSENGER/OTHER Probably Damaging 5 HCT-116 LARGE INTESTINE c.269delA p.N90fs*47 COSMIC NP NP 6 HF-23896 LUNG c.487delG p.G163fs*6 COSMIC NP NP 7 ICGC_MB31 CENTRAL NERVOUS SYSTEM c.491G>A p.R164H COSMIC PASSENGER/OTHER Probably Damaging 8 LUAD-RT-S01700 LUNG c.931C>T p.P311S COSMIC PASSENGER/OTHER Probably Damaging 9 LUAD-VUMN6 LUNG c.310G>C p.D104H COSMIC PASSENGER/OTHER Probably Damaging 10 PA285 PANCREAS c.246G>A p.M82I COSMIC PASSENGER/OTHER Benign 11 RK089_C01 LIVER c.65C>G p.T22S COSMIC PASSENGER/OTHER Benign 12 S01728 LUNG c.113C>G p.P38R COSMIC PASSENGER/OTHER Probably Damaging 13 TARGET-30-PARDIW AUTONOMIC GANGLIA c.233C>T p.P78L COSMIC PASSENGER/OTHER Benign 14 TCGA-13-0727-01 OVARY c.196C>T p.P66S COSMIC PASSENGER/OTHER Benign 15 TCGA-18-3408-01 LUNG c.1048G>A p.V350M COSMIC PASSENGER/OTHER Probably Damaging 16 TCGA-18-3414-01 LUNG c.132G>T p.V44V COSMIC NP NP 17 TCGA-44-3918-01 LUNG c.112C>A p.P38T COSMIC PASSENGER/OTHER Probably Damaging 18 TCGA-46-3768-01 LUNG c.398G>T p.R133I COSMIC PASSENGER/OTHER Probably Damaging 19 TCGA-69-7765-01 LUNG c.424G>C p.E142Q COSMIC PASSENGER/OTHER Possibly Damaging 20 TCGA-A6-2672-01 LARGE INTESTINE c.1166G>T p.R389L COSMIC PASSENGER/OTHER Probably Damaging 21 TCGA-A6-6781-01 LARGE INTESTINE c.751C>T p.H251Y COSMIC PASSENGER/OTHER Possibly Damaging 22 TCGA-AA-3947-01 LARGE INTESTINE c.403A>C p.K135Q COSMIC PASSENGER/OTHER Probably Damaging 23 TCGA-AA-A00N-01 LARGE INTESTINE c.402G>T p.E134D COSMIC PASSENGER/OTHER Possibly Damaging 24 TCGA-AD-6964-01 LARGE INTESTINE c.315T>C p.H105H COSMIC NP NP 25 TCGA-AG-A002-01 LARGE INTESTINE c.1129C>T p.R377W COSMIC PASSENGER/OTHER Probably Damaging 26 TCGA-AG-A002-01 LARGE INTESTINE c.1249G>T p.E417* COSMIC NP NP 27 TCGA-AP-A0LT-01 ENDOMETRIUM c.490C>T p.R164C COSMIC PASSENGER/OTHER Probably Damaging 28 TCGA-AX-A05Z-01 ENDOMETRIUM c.716G>T p.R239I COSMIC PASSENGER/OTHER Possibly Damaging 29 TCGA-AX-A0J0-01 ENDOMETRIUM c.489T>G p.G163G COSMIC NP NP 30 TCGA-B0-4712-01 KIDNEY c.990C>A p.T330T COSMIC NP NP 31 TCGA-B2-4099-01 KIDNEY c.446T>C p.F149S COSMIC PASSENGER/OTHER Possibly Damaging 32 TCGA-B5-A11E-01 ENDOMETRIUM c.521C>T p.A174V COSMIC PASSENGER/OTHER Possibly Damaging 33 TCGA-BG-A0VW-01 ENDOMETRIUM c.1151A>T p.N384I COSMIC PASSENGER/OTHER Possibly Damaging 34 TCGA-BS-A0U7-01 ENDOMETRIUM c.794C>T p.S265L COSMIC PASSENGER/OTHER Probably Damaging 35 TCGA-BS-A0UF-01 ENDOMETRIUM c.1087A>G p.R363G COSMIC PASSENGER/OTHER Probably Damaging 36 TCGA-BS-A0UL-01 ENDOMETRIUM c.769T>C p.C257R COSMIC PASSENGER/OTHER Benign 37 TCGA-C4-A0F1-01 URINARY TRACT c.280G>A p.E94K COSMIC PASSENGER/OTHER Probably Damaging 38 TCGA-CK-5916-01 LARGE INTESTINE c.750G>A p.W250* COSMIC NP NP 39 TCGA-DK-A2I2-01 URINARY TRACT c.1117C>T p.P373S COSMIC PASSENGER/OTHER Probably Damaging 40 TCGA-G2-A2EC-01 URINARY TRACT c.504G>A p.L168L COSMIC NP NP 41 TCGA-G2-A2EC-01 URINARY TRACT c.723G>C p.E241D 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.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. Sequence alignment with 1000 genome variations: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 (+)
