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.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 2 S Acetylation 2 226 K Ubiquitylation 3 233 S Phosphorylation 4 233 S Phosphorylation 5 303 K Ubiquitylation 6 371 K Ubiquitylation 7 379 K Ubiquitylation 8 6 Y Phosphorylation 9 60 K Ubiquitylation 10 62 K Ubiquitylation 11 86 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR ACTL6A ACTL6A ACTL6A ENSP00000376430 O96019 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt O96019 ACTL6A ENSP00000376430 ACTL6A O96019 Expression Atlas Protein Atlas OMIM IntAct PharmGKB ACTL6A ENSP00000376430 604958 O96019 PA134914203
