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: ASH1L |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 12T SKIN c.4114C>T p.P1372S COSMIC CANCER Probably Damaging 2 24T SKIN c.1152C>A p.A384A COSMIC NP NP 3 24T SKIN c.8578G>A p.E2860K COSMIC NP NP 4 43T SKIN c.3557C>T p.S1186F COSMIC CANCER Probably Damaging 5 587222 LARGE INTESTINE c.3917G>A p.R1306Q COSMIC CANCER Probably Damaging 6 587224 LARGE INTESTINE c.4547G>A p.R1516H COSMIC PASSENGER/OTHER Probably Damaging 7 587224 LARGE INTESTINE c.7262G>A p.R2421Q COSMIC NP NP 8 587376 LARGE INTESTINE c.8887C>T p.R2963* COSMIC NP NP 9 8029770 PANCREAS c.1884G>T p.G628G COSMIC NP NP 10 9T SKIN c.4862C>T p.S1621F COSMIC PASSENGER/OTHER Benign
*NP: Not Predicted -
Copy number variation and expression profile (+)
Tissue Type Mean Expression Value Median Expression Value Mean CNV Median CNV AUTONOMIC GANGLIA 9.7964 9.9464 0.3841 0.4823 BILIARY TRACT 9.2958 9.2305 0.2555 0.2541 BONE 9.2085 9.2126 -0.0441 -0.0077 BREAST 9.5419 9.53695 0.2606 0.18175 CENTRAL NERVOUS SYSTEM 9.2806 9.1915 0.0881 0.0458 ENDOMETRIUM 9.2672 9.2456 0.0926 0.01623 HAEMATOPOIETIC AND LYMPHOID TISSUE 9.2701 9.2841 0.1930 0.0466 KIDNEY 9.1077 9.0627 0.1967 0.1428 LARGE INTESTINE 9.4257 9.3598 0.1246 0.01331 LIVER 9.1625 9.0981 0.1875 0.1779 
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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
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Tertiary structure (+)
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Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PB004663 Pfam-B_4663 1023 1134 5.6e-15 PB004663 Pfam-B_4663 1158 1223 1.2e-10 PB004663 Pfam-B_4663 1222 1407 2.2e-86 PB019358 Pfam-B_19358 1264 1347 4.4e-18 PB006310 Pfam-B_6310 1508 1557 5.8e-13 PB018878 Pfam-B_18878 1977 2032 3.8e-21 PF00856 SET 2156 2261 2.7e-25 PB018246 Pfam-B_18246 2302 2419 1.6e-69 PF00439 Bromodomain 2453 2536 9.5e-17 PF00628 PHD 2587 2630 6.3e-07 PF01426 BAH 2663 2796 6.1e-18 2. Superfamily Domains:Domain ID Start Site End Site E-value 0048183 2069 2282 2.75e-65 0046608 2444 2556 1.31e-21 0050470 2576 2640 1.28e-13 -
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 (+)
$x"); for($d=2;$d<$l777;$d++) { fwrite($FP6,$row6[$d]); fwrite($FP7,"$row6[$d]"); fwrite($FP6,"\t"); } fwrite($FP6,"\n"); fwrite($FP7,""); } fclose($FP6); echo""; } else{echo"
"; ##### table ##### $ptm_tr=file_get_contents("$dir/ptm"); if($ptm_tr != '') { echo""; include("$dir/ptm.html"); echo"S. No. Position Amino acid Type Post translational modifications are not found!!";} ?> -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR ASH1L ASH1L ASH1L ENSP00000357330 Q9NR48 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q9NR48 ASH1L ENSP00000357330 ASH1L Q9NR48 Expression Atlas Protein Atlas OMIM IntAct PharmGKB ASH1L ENSP00000357330 607999 Q9NR48 PA134891064