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: MECP2 |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 587332 LARGE INTESTINE c.254G>A p.R85H COSMIC PASSENGER/OTHER Probably Damaging 2 ESO-114 OESOPHAGUS c.593G>C p.R198T COSMIC PASSENGER/OTHER Benign 3 ESO-1427 OESOPHAGUS c.1259G>C p.R420T COSMIC PASSENGER/OTHER Probably Damaging 4 H650 LUNG c.121G>A p.G41S COSMIC PASSENGER/OTHER Possibly Damaging 5 OVCAR-4 OVARY c.461A>G p.D154G COSMIC PASSENGER/OTHER Probably Damaging 6 PD6350a NS c.82T>G p.F28V COSMIC PASSENGER/OTHER Benign 7 SA065 BREAST c.892G>T p.E298* COSMIC NP NP 8 SE2 LARGE INTESTINE c.526C>T p.P176S COSMIC PASSENGER/OTHER Benign 9 SE20PT CENTRAL NERVOUS SYSTEM c.27G>T p.R9S COSMIC PASSENGER/OTHER Possibly Damaging 10 TCGA-22-5473-01 LUNG c.1309C>G p.Q437E COSMIC PASSENGER/OTHER Possibly Damaging 11 TCGA-34-5927-01 LUNG c.359A>G p.Y120C COSMIC PASSENGER/OTHER Probably Damaging 12 TCGA-34-5927-01 LUNG c.980C>A p.T327N COSMIC PASSENGER/OTHER Benign 13 TCGA-73-4666-01 LUNG c.909C>G p.I303M COSMIC PASSENGER/OTHER Probably Damaging 14 TCGA-91-6830-01 LUNG c.1025C>T p.P342L COSMIC PASSENGER/OTHER Possibly Damaging 15 TCGA-91-6849-01 LUNG c.818G>T p.G273V COSMIC PASSENGER/OTHER Possibly Damaging 16 TCGA-99-7458-01 LUNG c.1358G>T p.R453L COSMIC PASSENGER/OTHER Probably Damaging 17 TCGA-AA-3715-01 LARGE INTESTINE c.1060C>T p.R354C COSMIC PASSENGER/OTHER Probably Damaging 18 TCGA-AA-3812-01 LARGE INTESTINE c.911A>G p.K304R COSMIC PASSENGER/OTHER Probably Damaging 19 TCGA-AA-3982-01 LARGE INTESTINE c.1002A>G p.K334K COSMIC NP NP 20 TCGA-AO-A03L-01 BREAST c.894G>C p.E298D COSMIC PASSENGER/OTHER Probably Damaging 21 TCGA-AO-A0JD-01 BREAST c.1327G>C p.A443P COSMIC PASSENGER/OTHER Benign 22 TCGA-AP-A051-01 ENDOMETRIUM c.1014C>A p.T338T COSMIC NP NP 23 TCGA-AP-A051-01 ENDOMETRIUM c.50A>G p.D17G COSMIC PASSENGER/OTHER Probably Damaging 24 TCGA-AP-A059-01 ENDOMETRIUM c.427G>A p.E143K COSMIC PASSENGER/OTHER Possibly Damaging 25 TCGA-AP-A0LM-01 ENDOMETRIUM c.1431C>T p.S477S COSMIC NP NP 26 TCGA-AU-6004-01 LARGE INTESTINE c.419C>T p.A140V COSMIC PASSENGER/OTHER Probably Damaging 27 TCGA-B0-4700-01 KIDNEY c.393C>G p.A131A COSMIC NP NP 28 TCGA-B5-A0JY-01 ENDOMETRIUM c.870G>A p.E290E COSMIC NP NP 29 TCGA-B5-A0K7-01 ENDOMETRIUM c.250C>T p.R84W COSMIC PASSENGER/OTHER Probably Damaging 30 TCGA-B5-A11N-01 ENDOMETRIUM c.253C>T p.R85C COSMIC PASSENGER/OTHER Probably Damaging 31 TCGA-B6-A0I9-01 BREAST c.438C>T p.G146G COSMIC NP NP 32 TCGA-B6-A0IJ-01 BREAST c.253C>T p.R85C COSMIC PASSENGER/OTHER Probably Damaging 33 TCGA-B8-5551-01 KIDNEY c.218C>T p.A73V COSMIC PASSENGER/OTHER Possibly Damaging 34 TCGA-CM-6171-01 LARGE INTESTINE c.834C>T p.A278A COSMIC NP NP 35 TCGA-D1-A17D-01 ENDOMETRIUM c.755G>A p.G252D COSMIC PASSENGER/OTHER Probably Damaging 36 TCGA-D5-6928-01 LARGE INTESTINE c.1346delA p.K449fs*33 COSMIC NP NP 37 TCGA-DR-A0ZM-01 CERVIX c.1079C>T p.S360L COSMIC PASSENGER/OTHER Possibly Damaging 38 TCGA-DR-A0ZM-01 CERVIX c.666C>T p.V222V COSMIC NP NP 39 TCGA-G4-6586-01 LARGE INTESTINE c.1316C>T p.A439V COSMIC PASSENGER/OTHER Benign 40 WA33 PROSTATE c.1047C>A p.S349R COSMIC PASSENGER/OTHER Benign 41 WA42 PROSTATE c.148G>A p.A50T COSMIC PASSENGER/OTHER Possibly 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 1 116 S Phosphorylation 2 116 S Phosphorylation 3 119 K Methylation 4 120 Y Phosphorylation 5 130 K Ubiquitylation 6 149 S Phosphorylation 7 160 T Phosphorylation 8 166 S Phosphorylation 9 210 K Methylation 10 216 S Phosphorylation 11 228 T Phosphorylation 12 229 S Phosphorylation 13 357 S Phosphorylation 14 359 S Phosphorylation 15 360 S Phosphorylation 16 426 S Phosphorylation 17 426 S Phosphorylation 18 449 K Acetylation 19 449 K Acetylation 20 78 S Phosphorylation 21 80 S Phosphorylation 22 80 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR MECP2 MECP2 MECP2 ENSP00000301948 P51608 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt P51608 MECP2 ENSP00000301948 MECP2 P51608 Expression Atlas Protein Atlas OMIM IntAct PharmGKB MECP2 ENSP00000301948 300005 P51608 PA30729
