| Gene ID | 1655 |
| Symbol | DDX5 |
| Synonymous | G17P1|HLR1|HUMP68|p68 |
| Full name | DEAD (Asp-Glu-Ala-Asp) box helicase 5 |
| Gene description | ATP-dependent RNA helicase DDX5|DEAD (Asp-Glu-Ala-Asp) box polypeptide 5|DEAD box protein 5|DEAD box-5|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)|RNA helicase p68|probable ATP-dependent RNA helicase DDX5 |
| Cytoband | 17q21 |
| Gene type | protein-coding |
| Synonymous | MIM:180630; HGNC:HGNC:2746; Ensembl:ENSG00000108654; HPRD:01615; Vega:OTTHUMG00000178936 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1340C>T; p.P447L; 17:64500650-64500650 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.597_606del10; p.C200fs*26; 17:64503473-64503482 |
breast | carcinoma | Deletion - Frameshift |
c.372A>G; p.G124G; 17:64504052-64504052 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.648A>C; p.R216S; 17:64503431-64503431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>A; p.E259K; 17:64503223-64503223 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.346G>A; p.E116K; 17:64504078-64504078 |
large_intestine; colon | adenoma | Substitution - Missense |
c.1105A>G; p.M369V; 17:64502213-64502213 |
liver | carcinoma | Substitution - Missense |
c.23G>A; p.R8Q; 17:64506097-64506097 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.32G>T; p.G11V; 17:64506088-64506088 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.291T>G; p.Y97*; 17:64504238-64504238 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1622C>G; p.T541S; 17:64500146-64500146 |
liver | carcinoma | Substitution - Missense |
c.1622C>G; p.T541S; 17:64500146-64500146 |
liver | carcinoma | Substitution - Missense |
c.1444C>T; p.R482C; 17:64500324-64500324 |
skin | malignant_melanoma | Substitution - Missense |
c.243A>C; p.E81D; 17:64504286-64504286 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1444C>T; p.R482C; 17:64500324-64500324 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1364A>G; p.D455G; 17:64500626-64500626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1267G>A; p.E423K; 17:64500723-64500723 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.586T>G; p.L196V; 17:64503493-64503493 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1035T>C; p.I345I; 17:64502498-64502498 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1035T>C; p.I345I; 17:64502498-64502498 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.721A>G; p.R241G; 17:64503277-64503277 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.548T>G; p.V183G; 17:64503531-64503531 |
breast | carcinoma | Substitution - Missense |
c.1218T>C; p.D406D; 17:64500772-64500772 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1604A>G; p.Y535C; 17:64500164-64500164 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604A>G; p.Y535C; 17:64500164-64500164 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1603T>C; p.Y535H; 17:64500165-64500165 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1603T>C; p.Y535H; 17:64500165-64500165 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618T>C; p.Y540H; 17:64500150-64500150 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1381C>T; p.R461C; 17:64500609-64500609 |
skin | malignant_melanoma | Substitution - Missense |
c.1358T>C; p.V453A; 17:64500632-64500632 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1363G>A; p.D455N; 17:64500627-64500627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1668C>T; p.T556T; 17:64500100-64500100 |
thyroid | carcinoma | Substitution - coding silent |
c.727A>G; p.T243A; 17:64503271-64503271 |
skin | malignant_melanoma | Substitution - Missense |
c.727A>G; p.T243A; 17:64503271-64503271 |
skin | malignant_melanoma | Substitution - Missense |
c.1480C>T; p.R494W; 17:64500288-64500288 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.1425C>T; p.V475V; 17:64500565-64500565 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1588delA; p.T530fs*59; 17:64500180-64500180 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1681G>T; p.G561C; 17:64500087-64500087 |
skin | malignant_melanoma | Substitution - Missense |
c.898A>G; p.I300V; 17:64503011-64503011 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.713A>G; p.N238S; 17:64503285-64503285 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1737T>G; p.S579R; 17:64500031-64500031 |
skin | malignant_melanoma | Substitution - Missense |
c.1490A>G; p.Y497C; 17:64500278-64500278 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1134A>C; p.Q378H; 17:64502184-64502184 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.917A>T; p.E306V; 17:64502992-64502992 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1810A>T; p.I604F; 17:64499958-64499958 |
stomach | adenocarcinoma | Substitution - Missense |
c.1843T>C; p.*615Q; 17:64499925-64499925 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Nonstop extension |
c.1620delC; p.Y540fs*1; 17:64500148-64500148 |
breast | carcinoma | Deletion - Frameshift |
c.149A>T; p.E50V; 17:64504738-64504738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1379T>G; p.L460R; 17:64500611-64500611 |
breast | carcinoma | Substitution - Missense |
c.495C>T; p.G165G; 17:64503815-64503815 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.495C>T; p.G165G; 17:64503815-64503815 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.475C>T; p.Q159*; 17:64503835-64503835 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1809G>A; p.M603I; 17:64499959-64499959 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244A>G; p.N415S; 17:64500746-64500746 |
lung | carcinoid-endocrine_tumour | Substitution - Missense |
c.293A>G; p.E98G; 17:64504236-64504236 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.808A>C; p.R270R; 17:64503190-64503190 |
breast | carcinoma | Substitution - coding silent |
c.1598G>C; p.G533A; 17:64500170-64500170 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1577T>G; p.F526C; 17:64500191-64500191 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.302T>C; p.F101S; 17:64504227-64504227 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015G>T; p.E339*; 17:64502518-64502518 |
breast | carcinoma | Substitution - Nonsense |
c.1716T>G; p.D572E; 17:64500052-64500052 |
kidney | other; neoplasm | Substitution - Missense |
c.440_441+2delCTGT; p.?; 17:64503981-64503984 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.1787C>T; p.P596L; 17:64499981-64499981 |
skin | malignant_melanoma | Substitution - Missense |
c.881T>G; p.L294R; 17:64503028-64503028 |
skin | malignant_melanoma | Substitution - Missense |
c.244A>G; p.I82V; 17:64504285-64504285 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1477C>A; p.R493S; 17:64500291-64500291 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.288T>G; p.F96L; 17:64504241-64504241 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1597G>T; p.G533C; 17:64500171-64500171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1593G>C; p.Q531H; 17:64500175-64500175 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1597G>T; p.G533C; 17:64500171-64500171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.658A>G; p.I220V; 17:64503340-64503340 |
liver | carcinoma | Substitution - Missense |
c.831G>A; p.M277I; 17:64503078-64503078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1732G>A; p.G578R; 17:64500036-64500036 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1366_1381del16; p.L456fs*29; 17:64500609-64500624 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1099C>T; p.P367S; 17:64502219-64502219 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.422G>C; p.G141A; 17:64504002-64504002 |
breast | carcinoma | Substitution - Missense |
c.1650G>A; p.V550V; 17:64500118-64500118 |
pancreas | carcinoma | Substitution - coding silent |
c.440C>G; p.S147C; 17:64503984-64503984 |
liver | carcinoma | Substitution - Missense |
c.430A>G; p.K144E; 17:64503994-64503994 |
skin | malignant_melanoma | Substitution - Missense |
c.805A>G; p.I269V; 17:64503193-64503193 |
liver | carcinoma | Substitution - Missense |
c.1643A>G; p.N548S; 17:64500125-64500125 |
oesophagus | carcinoma | Substitution - Missense |
c.1643A>G; p.N548S; 17:64500125-64500125 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1256C>G; p.P419R; 17:64500734-64500734 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.793A>G; p.I265V; 17:64503205-64503205 |
stomach | adenocarcinoma | Substitution - Missense |
c.1659T>C; p.G553G; 17:64500109-64500109 |
pancreas | carcinoma | Substitution - coding silent |
c.1398A>G; p.A466A; 17:64500592-64500592 |
liver | carcinoma | Substitution - coding silent |
c.1631G>A; p.S544N; 17:64500137-64500137 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652C>G; p.S551C; 17:64500116-64500116 |
liver | carcinoma | Substitution - Missense |
c.1242C>T; p.I414I; 17:64500748-64500748 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.860G>C; p.R287T; 17:64503049-64503049 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.87A>G; p.L29L; 17:64504800-64504800 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1563G>A; p.L521L; 17:64500205-64500205 |
pancreas | carcinoma | Substitution - coding silent |
c.571T>G; p.C191G; 17:64503508-64503508 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.913C>T; p.L305F; 17:64502996-64502996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1531A>G; p.R511G; 17:64500237-64500237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1591C>G; p.Q531E; 17:64500177-64500177 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.211-1G>A; p.?; 17:64504319-64504319 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.190G>A; p.D64N; 17:64504697-64504697 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1028A>C; p.K343T; 17:64502505-64502505 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1597G>A; p.G533S; 17:64500171-64500171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1723C>T; p.Q575*; 17:64500045-64500045 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |