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: DOT1L |
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Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 587220 LARGE INTESTINE c.1291A>G p.T431A COSMIC PASSENGER/OTHER Benign 2 587224 LARGE INTESTINE c.1232G>A p.R411H COSMIC PASSENGER/OTHER Probably Damaging 3 587256 LARGE INTESTINE c.583G>A p.A195T COSMIC PASSENGER/OTHER Probably Damaging 4 587332 LARGE INTESTINE c.4294G>A p.A1432T COSMIC PASSENGER/OTHER Benign 5 587336 LARGE INTESTINE c.3779C>T p.P1260L COSMIC PASSENGER/OTHER Probably Damaging 6 587342 LARGE INTESTINE c.1238G>A p.R413H COSMIC PASSENGER/OTHER Probably Damaging 7 587376 LARGE INTESTINE c.1031G>A p.R344H COSMIC PASSENGER/OTHER Probably Damaging 8 587376 LARGE INTESTINE c.1648A>C p.K550Q COSMIC PASSENGER/OTHER Probably Damaging 9 587390 LARGE INTESTINE c.1108G>A p.A370T COSMIC PASSENGER/OTHER Benign 10 ESO-0001 OESOPHAGUS c.4499C>T p.S1500F COSMIC PASSENGER/OTHER Possibly Damaging 11 ESO-0292 OESOPHAGUS c.2462G>C p.G821A COSMIC PASSENGER/OTHER Benign 12 H1155 LUNG c.3031C>T p.R1011W COSMIC PASSENGER/OTHER Probably Damaging 13 H23 LUNG c.493G>T p.G165C COSMIC CANCER Probably Damaging 14 HCC107T LIVER c.4849G>A p.V1617I COSMIC NP NP 15 HCC119T LIVER c.2744A>G p.E915G COSMIC PASSENGER/OTHER Possibly Damaging 16 HCC2998 LARGE INTESTINE c.3609A>C p.K1203N COSMIC PASSENGER/OTHER Probably Damaging 17 HCC4T LIVER c.4622C>T p.A1541V COSMIC NP NP 18 HCC90T LIVER c.3542C>T p.S1181F COSMIC PASSENGER/OTHER Probably Damaging 19 HN_63115 UPPER AERODIGESTIVE TRACT c.1575C>T p.L525L COSMIC NP NP 20 HX13T LIVER c.4622C>T p.A1541V COSMIC NP NP 21 HX17T LIVER c.188A>G p.Y63C COSMIC PASSENGER/OTHER Probably Damaging 22 KM12 LARGE INTESTINE c.3950C>T p.T1317I COSMIC PASSENGER/OTHER Benign 23 LUAD-74TBW LUNG c.2033C>T p.A678V COSMIC PASSENGER/OTHER Benign 24 LUAD-B02594 LUNG c.2043C>T p.R681R COSMIC NP NP 25 LUAD-B02594 LUNG c.4328G>T p.G1443V COSMIC PASSENGER/OTHER Probably Damaging 26 LUAD-F00368 LUNG c.742G>T p.E248* COSMIC NP NP 27 LUAD-LC15C LUNG c.1585G>C p.A529P COSMIC PASSENGER/OTHER Probably Damaging 28 LUAD-S01331 LUNG c.3146_3147insCA p.T1051fs*18 COSMIC NP NP 29 LUAD-S01478 LUNG c.2515C>T p.Q839* COSMIC NP NP 30 MDS-08 HAEMATOPOIETIC AND LYMPHOID TISSUE c.1288C>T p.Q430* COSMIC NP NP 31 ME020T NS c.3772G>A p.D1258N COSMIC PASSENGER/OTHER Probably Damaging 32 NCI-H1395 LUNG c.3155G>T p.G1052V COSMIC PASSENGER/OTHER Possibly Damaging 33 NCI-H23 LUNG c.493G>T p.G165C COSMIC CANCER Probably Damaging 34 OV207 OVARY c.146C>T p.P49L COSMIC PASSENGER/OTHER Probably Damaging 35 PACA73 PANCREAS c.965T>G p.L322R COSMIC PASSENGER/OTHER Probably Damaging 36 PD4123a BREAST c.585G>A p.A195A COSMIC NP NP 37 Pa01C PANCREAS c.1311C>T p.H437H COSMIC NP NP 38 Pa36X PANCREAS c.1057G>A p.A353T COSMIC PASSENGER/OTHER Benign 39 S00933 LUNG c.1999G>T p.D667Y COSMIC PASSENGER/OTHER Probably Damaging 40 SJLGG011_D NS c.1773G>A p.A591A COSMIC NP NP 41 TCGA-21-5782-01 LUNG c.2211G>T p.Q737H COSMIC PASSENGER/OTHER Benign 42 TCGA-25-1320-01 OVARY c.1316_1318AGA>CCG p.Q439_T440>PP COSMIC NP NP 43 TCGA-37-5819-01 LUNG c.399C>G p.P133P COSMIC NP NP 44 TCGA-46-3768-01 LUNG c.2462G>C p.G821A COSMIC PASSENGER/OTHER Benign 45 TCGA-49-4486-01 LUNG c.3104C>G p.S1035* COSMIC NP NP 46 TCGA-49-6767-01 LUNG c.1990C>G p.P664A COSMIC PASSENGER/OTHER Probably Damaging 47 TCGA-53-7624-01 LUNG c.1042G>T p.E348* COSMIC NP NP 48 TCGA-56-6545-01 LUNG c.175G>A p.V59I COSMIC PASSENGER/OTHER Probably Damaging 49 TCGA-60-2710-01 LUNG c.1096G>T p.G366C COSMIC PASSENGER/OTHER Possibly Damaging 50 TCGA-66-2783-01 LUNG c.2659A>T p.S887C COSMIC PASSENGER/OTHER Probably Damaging 51 TCGA-69-7974-01 LUNG c.1909T>G p.C637G COSMIC PASSENGER/OTHER Probably Damaging 52 TCGA-78-7220-01 LUNG c.166G>T p.E56* COSMIC NP NP 53 TCGA-85-6561-01 LUNG c.159C>A p.L53L COSMIC NP NP 54 TCGA-91-6836-01 LUNG c.4412G>C p.G1471A COSMIC PASSENGER/OTHER Possibly Damaging 55 TCGA-A6-4105-01 LARGE INTESTINE c.2818G>A p.A940T COSMIC PASSENGER/OTHER Benign 56 TCGA-A8-A084-01 BREAST c.137A>G p.E46G COSMIC PASSENGER/OTHER Probably Damaging 57 TCGA-AA-3510-01 LARGE INTESTINE c.798C>T p.I266I COSMIC NP NP 58 TCGA-AA-3672-01 LARGE INTESTINE c.691C>T p.R231* COSMIC NP NP 59 TCGA-AA-3977-01 LARGE INTESTINE c.409G>A p.G137R COSMIC PASSENGER/OTHER Probably Damaging 60 TCGA-AA-3977-01 LARGE INTESTINE c.917C>T p.T306M COSMIC PASSENGER/OTHER Probably Damaging 61 TCGA-AB-2915-03 HAEMATOPOIETIC AND LYMPHOID TISSUE c.2328G>C p.P776P COSMIC NP NP 62 TCGA-AP-A056-01 ENDOMETRIUM c.114C>T p.I38I COSMIC NP NP 63 TCGA-AP-A059-01 ENDOMETRIUM c.1232G>A p.R411H COSMIC PASSENGER/OTHER Probably Damaging 64 TCGA-AP-A059-01 ENDOMETRIUM c.1407G>T p.R469R COSMIC NP NP 65 TCGA-AP-A059-01 ENDOMETRIUM c.2803G>T p.A935S COSMIC PASSENGER/OTHER Benign 66 TCGA-AP-A059-01 ENDOMETRIUM c.3425C>A p.A1142D COSMIC PASSENGER/OTHER Probably Damaging 67 TCGA-AP-A0LM-01 ENDOMETRIUM c.1232G>A p.R411H COSMIC PASSENGER/OTHER Probably Damaging 68 TCGA-AZ-4315-01 LARGE INTESTINE c.838A>C p.N280H COSMIC PASSENGER/OTHER Probably Damaging 69 TCGA-B5-A11E-01 ENDOMETRIUM c.1406G>A p.R469Q COSMIC PASSENGER/OTHER Benign 70 TCGA-B5-A11E-01 ENDOMETRIUM c.552C>T p.G184G COSMIC NP NP 71 TCGA-B5-A11N-01 ENDOMETRIUM c.3645G>A p.P1215P COSMIC NP NP 72 TCGA-BH-A0EE-01 BREAST c.736G>A p.G246S COSMIC PASSENGER/OTHER Probably Damaging 73 TCGA-BP-4981-01 KIDNEY c.1845G>A p.S615S COSMIC NP NP 74 TCGA-BP-5007-01 KIDNEY c.3509G>A p.R1170Q COSMIC PASSENGER/OTHER Possibly Damaging 75 TCGA-BS-A0UA-01 ENDOMETRIUM c.3912C>T p.D1304D COSMIC NP NP 76 TCGA-BT-A20J-01 URINARY TRACT c.1129G>T p.E377* COSMIC NP NP 77 TCGA-BT-A20J-01 URINARY TRACT c.1135G>A p.E379K COSMIC PASSENGER/OTHER Possibly Damaging 78 TCGA-BT-A20J-01 URINARY TRACT c.1251G>A p.M417I COSMIC PASSENGER/OTHER Benign 79 TCGA-BT-A20J-01 URINARY TRACT c.1617G>A p.Q539Q COSMIC NP NP 80 TCGA-BT-A20J-01 URINARY TRACT c.1668G>A p.V556V COSMIC NP NP 81 TCGA-BT-A20J-01 URINARY TRACT c.2128G>A p.E710K COSMIC PASSENGER/OTHER Probably Damaging 82 TCGA-BT-A20J-01 URINARY TRACT c.2343G>A p.L781L COSMIC NP NP 83 TCGA-C4-A0F6-01 URINARY TRACT c.1947G>A p.K649K COSMIC NP NP 84 TCGA-C4-A0F6-01 URINARY TRACT c.1963G>T p.E655* COSMIC NP NP 85 TCGA-CA-6717-01 LARGE INTESTINE c.3102C>A p.F1034L COSMIC PASSENGER/OTHER Benign 86 TCGA-CF-A3MH-01 URINARY TRACT c.2710G>A p.V904M COSMIC PASSENGER/OTHER Probably Damaging 87 TCGA-CH-5764-01 PROSTATE c.1225C>T p.R409C COSMIC PASSENGER/OTHER Probably Damaging 88 TCGA-CI-6624-01 LARGE INTESTINE c.2636T>C p.L879P COSMIC PASSENGER/OTHER Probably Damaging 89 TCGA-CJ-5683-01 KIDNEY c.829T>C p.F277L COSMIC PASSENGER/OTHER Probably Damaging 90 TCGA-CM-5862-01 LARGE INTESTINE c.1320C>T p.T440T COSMIC NP NP 91 TCGA-CW-6090-01 KIDNEY c.1404G>A p.Q468Q COSMIC NP NP 92 TCGA-CZ-5982-01 KIDNEY c.687G>A p.R229R COSMIC NP NP 93 TCGA-D1-A103-01 ENDOMETRIUM c.1536G>T p.Q512H COSMIC PASSENGER/OTHER Probably Damaging 94 TCGA-D1-A103-01 ENDOMETRIUM c.177T>G p.V59V COSMIC NP NP 95 TCGA-D1-A15X-01 ENDOMETRIUM c.1565A>G p.N522S COSMIC PASSENGER/OTHER Possibly Damaging 96 TCGA-D1-A15X-01 ENDOMETRIUM c.202T>C p.F68L COSMIC PASSENGER/OTHER Probably Damaging 97 TCGA-D1-A17U-01 ENDOMETRIUM c.2169C>T p.C723C COSMIC NP NP 98 TCGA-D5-6538-01 LARGE INTESTINE c.3422C>T p.T1141I COSMIC PASSENGER/OTHER Probably Damaging 99 TCGA-DK-A1A6-01 URINARY TRACT c.2931C>T p.T977T COSMIC NP NP 100 TCGA-DK-A1AC-01 URINARY TRACT c.1002C>T p.L334L COSMIC NP NP 101 TCGA-DK-A1AC-01 URINARY TRACT c.618G>A p.M206I COSMIC PASSENGER/OTHER Probably Damaging 102 TCGA-DK-A1AG-01 URINARY TRACT c.1776C>A p.L592L COSMIC NP NP 103 TCGA-DK-A1AG-01 URINARY TRACT c.3339C>T p.V1113V COSMIC NP NP 104 TCGA-DM-A28F-01 LARGE INTESTINE c.1777C>T p.R593C COSMIC PASSENGER/OTHER Probably Damaging 105 TCGA-DR-A0ZM-01 CERVIX c.4317C>T p.L1439L COSMIC NP NP 106 TCGA-E2-A15K-01 BREAST c.1609C>G p.Q537E COSMIC PASSENGER/OTHER Possibly Damaging 107 TCGA-E2-A15K-06 BREAST c.1609C>G p.Q537E COSMIC PASSENGER/OTHER Possibly Damaging 108 TCGA-EW-A1IZ-01 BREAST c.186C>A p.D62E COSMIC PASSENGER/OTHER Benign 109 TCGA-F4-6856-01 LARGE INTESTINE c.160G>A p.A54T COSMIC PASSENGER/OTHER Probably Damaging 110 TCGA-F4-6856-01 LARGE INTESTINE c.3645G>A p.P1215P COSMIC NP NP 111 TCGA-GC-A3RB-01 URINARY TRACT c.343T>A p.Y115N COSMIC PASSENGER/OTHER Probably Damaging 112 TCGA-GV-A3QI-01 URINARY TRACT c.2406G>A p.S802S COSMIC NP NP 113 ccRCC-10 KIDNEY c.852G>C p.L284F COSMIC PASSENGER/OTHER Benign 114 ccRCC-62 KIDNEY c.2945G>C p.S982T 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. 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 1001 S Phosphorylation 2 1001 S Phosphorylation 3 1007 S Phosphorylation 4 1008 S Phosphorylation 5 1009 S Phosphorylation 6 1009 S Phosphorylation 7 1035 S Phosphorylation 8 1059 S Phosphorylation 9 1100 S Phosphorylation 10 1104 S Phosphorylation 11 1104 S Phosphorylation 12 1213 S Phosphorylation 13 1246 S Phosphorylation 14 1246 S Phosphorylation 15 1259 S Phosphorylation 16 1348 S Phosphorylation 17 1349 S Phosphorylation 18 1349 S Phosphorylation 19 1355 S Phosphorylation 20 285 S Phosphorylation 21 289 T Phosphorylation 22 297 S Phosphorylation 23 297 S Phosphorylation 24 302 S Phosphorylation 25 304 S Phosphorylation 26 306 T Phosphorylation 27 374 S Phosphorylation 28 374 S Phosphorylation 29 448 S Phosphorylation 30 471 S Phosphorylation 31 471 S Phosphorylation 32 480 T Phosphorylation 33 480 T Phosphorylation 34 572 S Phosphorylation 35 596 S Phosphorylation 36 596 S Phosphorylation 37 735 T Phosphorylation 38 738 Y Phosphorylation 39 741 S Phosphorylation 40 751 T Phosphorylation 41 753 S Phosphorylation 42 771 Y Phosphorylation 43 775 S Phosphorylation 44 775 S Phosphorylation 45 78 Y Phosphorylation 46 786 S Phosphorylation 47 822 S Phosphorylation 48 822 S Phosphorylation 49 826 S Phosphorylation 50 826 S Phosphorylation 51 834 S Phosphorylation 52 834 S Phosphorylation 53 84 S Phosphorylation 54 899 S Phosphorylation 55 899 S Phosphorylation 56 900 T Phosphorylation 57 900 T Phosphorylation 58 902 S Phosphorylation 59 902 S Phosphorylation 60 984 T Phosphorylation 61 997 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR DOT1L DOT1L DOT1L ENSP00000381657 Q8TEK3 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q8TEK3 DOT1L ENSP00000381657 DOT1L Q8TEK3 Expression Atlas Protein Atlas OMIM IntAct PharmGKB DOT1L ENSP00000381657 607375 Q8TEK3 PA134993717
