A Database of Epigenetic Modifiers
Protein: KDM5D |
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# | Cell Line/Tumor sample | Tissue of Origin | cDNA change | Protein change | Source | FATHMM Prediction | PolyPhen2 Prediction |
---|---|---|---|---|---|---|---|
1 | 002 | KIDNEY | c.2434G>T | p.V812L | COSMIC | PASSENGER/OTHER | Benign |
2 | 587228 | LARGE INTESTINE | c.476G>A | p.R159H | COSMIC | PASSENGER/OTHER | Probably Damaging |
3 | 587332 | LARGE INTESTINE | c.4177C>T | p.L1393F | COSMIC | PASSENGER/OTHER | Probably Damaging |
4 | 587350 | LARGE INTESTINE | c.4235C>A | p.P1412H | COSMIC | PASSENGER/OTHER | Possibly Damaging |
5 | CLL168 | HAEMATOPOIETIC AND LYMPHOID TISSUE | c.1513A>G | p.I505V | COSMIC | PASSENGER/OTHER | Possibly Damaging |
6 | CP66-MEL | SKIN | c.469T>A | p.Y157N | COSMIC | PASSENGER/OTHER | Probably Damaging |
7 | LUAD-NYU1195 | LUNG | c.1577G>T | p.G526V | COSMIC | PASSENGER/OTHER | Probably Damaging |
8 | LUAD-S01302 | LUNG | c.379G>T | p.A127S | COSMIC | PASSENGER/OTHER | Benign |
9 | PD6354a | NS | c.2374C>T | p.R792C | COSMIC | PASSENGER/OTHER | Probably Damaging |
10 | S01366 | LUNG | c.3997A>G | p.K1333E | COSMIC | PASSENGER/OTHER | Benign |
11 | SK-MEL-2 | SKIN | c.2905C>T | p.R969C | COSMIC | PASSENGER/OTHER | Benign |
12 | TCGA-18-3409-01 | LUNG | c.4042G>T | p.E1348* | COSMIC | NP | NP |
13 | TCGA-18-3417-01 | LUNG | c.550G>T | p.E184* | COSMIC | NP | NP |
14 | TCGA-38-4629-01 | LUNG | c.3864G>A | p.V1288V | COSMIC | NP | NP |
15 | TCGA-39-5022-01 | LUNG | c.4299G>C | p.R1433R | COSMIC | NP | NP |
16 | TCGA-55-8089-01 | LUNG | c.2694G>T | p.L898L | COSMIC | NP | NP |
17 | TCGA-55-8089-01 | LUNG | c.3206G>T | p.R1069I | COSMIC | PASSENGER/OTHER | Probably Damaging |
18 | TCGA-78-7633-01 | LUNG | c.3052G>C | p.A1018P | COSMIC | PASSENGER/OTHER | Probably Damaging |
19 | TCGA-95-7944-01 | LUNG | c.1363G>A | p.E455K | COSMIC | PASSENGER/OTHER | Probably Damaging |
20 | TCGA-97-7937-01 | LUNG | c.1508G>T | p.W503L | COSMIC | PASSENGER/OTHER | Probably Damaging |
21 | TCGA-AA-A00A-01 | LARGE INTESTINE | c.3492A>G | p.P1164P | COSMIC | NP | NP |
22 | TCGA-AA-A00E-01 | LARGE INTESTINE | c.1734G>A | p.Q578Q | COSMIC | NP | NP |
23 | TCGA-AA-A00J-01 | LARGE INTESTINE | c.341G>A | p.S114N | COSMIC | PASSENGER/OTHER | Possibly Damaging |
24 | TCGA-AA-A01I-01 | LARGE INTESTINE | c.2302C>T | p.R768* | COSMIC | NP | NP |
25 | TCGA-AG-A002-01 | LARGE INTESTINE | c.3229C>A | p.L1077I | COSMIC | PASSENGER/OTHER | Probably Damaging |
26 | TCGA-AY-6197-01 | LARGE INTESTINE | c.4325G>A | p.R1442Q | COSMIC | PASSENGER/OTHER | Probably Damaging |
27 | TCGA-AZ-4315-01 | LARGE INTESTINE | c.1380G>A | p.A460A | COSMIC | NP | NP |
28 | TCGA-AZ-4315-01 | LARGE INTESTINE | c.4255C>T | p.R1419C | COSMIC | PASSENGER/OTHER | Benign |
29 | TCGA-AZ-6601-01 | LARGE INTESTINE | c.3903G>A | p.Q1301Q | COSMIC | NP | NP |
30 | TCGA-CJ-6030-01 | KIDNEY | c.376G>A | p.E126K | COSMIC | PASSENGER/OTHER | Probably Damaging |
31 | TCGA-D5-6930-01 | LARGE INTESTINE | c.3009G>A | p.L1003L | COSMIC | NP | NP |
32 | TCGA-D5-6930-01 | LARGE INTESTINE | c.800delC | p.P267fs*5 | COSMIC | NP | NP |
33 | YURIDA | SKIN | c.2165C>T | p.S722F | COSMIC | PASSENGER/OTHER | Benign |
34 | pfg029T | STOMACH | c.3585G>C | p.W1195C | COSMIC | CANCER | Probably Damaging |
Domain ID | Domain Name | Start Site | End Site | E-value |
PF02375 | JmjN | 15 | 48 | 3e-15 |
PF01388 | ARID | 77 | 165 | 8.8e-24 |
PF00628 | PHD | 316 | 362 | 4.3e-12 |
PB006766 | Pfam-B_6766 | 330 | 365 | 1.9e-06 |
PF02373 | JmjC | 491 | 607 | 8.6e-43 |
PF02928 | zf-C5HC2 | 697 | 750 | 2e-16 |
PF08429 | PLU-1 | 761 | 1087 | 5.3e-93 |
PF00628 | PHD | 1174 | 1236 | 7.8e-07 |
PB000113 | Pfam-B_113 | 1193 | 1304 | 2.7e-36 |
PB012821 | Pfam-B_12821 | 1401 | 1466 | 1.3e-29 |
Domain ID | Start Site | End Site | E-value |
0047105 | 440 | 645 | 1.92e-35 |
0046063 | 60 | 183 | 7.33e-32 |
0050474 | 301 | 368 | 5.54e-17 |
0050473 | 1169 | 1241 | 1.06e-11 |
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