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.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 (+)
