| Gene ID | 55775 |
| Symbol | TDP1 |
| Synonymous | - |
| Full name | tyrosyl-DNA phosphodiesterase 1 |
| Gene description | tyr-DNA phosphodiesterase 1 |
| Cytoband | 14q32.11 |
| Gene type | protein-coding |
| Synonymous | MIM:607198; HGNC:HGNC:18884; Ensembl:ENSG00000042088; HPRD:06226; Vega:OTTHUMG00000171016 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.675G>T; p.L225L; 14:89971190-89971190 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.675G>T; p.L225L; 14:89971190-89971190 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1489T>C; p.Y497H; 14:89993431-89993431 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1105A>G; p.N369D; 14:89985184-89985184 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618G>A; p.G540R; 14:90019392-90019392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>A; p.A134T; 14:89963514-89963514 |
thyroid | other; neoplasm | Substitution - Missense |
c.483_484GA>TT; p.N162Y; 14:89963597-89963598 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.843C>T; p.T281T; 14:89980591-89980591 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1766T>G; p.I589R; 14:90043082-90043082 |
skin | malignant_melanoma | Substitution - Missense |
c.899C>T; p.P300L; 14:89984530-89984530 |
skin | malignant_melanoma | Substitution - Missense |
c.963T>C; p.A321A; 14:89984594-89984594 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.979T>C; p.L327L; 14:89984610-89984610 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.291A>G; p.Q97Q; 14:89963405-89963405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.474G>A; p.L158L; 14:89963588-89963588 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.774G>A; p.A258A; 14:89975798-89975798 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.774G>A; p.A258A; 14:89975798-89975798 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.61G>C; p.E21Q; 14:89963175-89963175 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.802C>T; p.L268L; 14:89980550-89980550 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1154C>T; p.S385F; 14:89988927-89988927 |
skin | malignant_melanoma | Substitution - Missense |
c.1541G>A; p.S514N; 14:89993483-89993483 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.410G>T; p.R137M; 14:89963524-89963524 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015A>T; p.I339L; 14:89984646-89984646 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.750C>T; p.L250L; 14:89971265-89971265 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1686C>T; p.G562G; 14:90033147-90033147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.748C>G; p.L250V; 14:89971263-89971263 |
NS | NS | Substitution - Missense |
c.306G>A; p.Q102Q; 14:89963420-89963420 |
kidney | other; neoplasm | Substitution - coding silent |
c.553A>G; p.I185V; 14:89963667-89963667 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.928C>A; p.H310N; 14:89984559-89984559 |
kidney | other; neoplasm | Substitution - Missense |
c.242C>T; p.S81F; 14:89963356-89963356 |
skin | malignant_melanoma | Substitution - Missense |
c.1424C>T; p.S475F; 14:89991974-89991974 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1703C>G; p.A568G; 14:90033164-90033164 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.791+1G>A; p.?; 14:89975816-89975816 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.556A>G; p.K186E; 14:89963670-89963670 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1177C>T; p.P393S; 14:89988950-89988950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.659+1G>T; p.?; 14:89967423-89967423 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.1180G>T; p.V394F; 14:89988953-89988953 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.757G>A; p.A253T; 14:89975781-89975781 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.15C>T; p.G5G; 14:89963129-89963129 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.15C>T; p.G5G; 14:89963129-89963129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1524T>G; p.A508A; 14:89993466-89993466 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1692G>A; p.Q564Q; 14:90033153-90033153 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1692G>A; p.Q564Q; 14:90033153-90033153 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1692G>A; p.Q564Q; 14:90033153-90033153 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.95C>T; p.S32F; 14:89963209-89963209 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1147G>A; p.A383T; 14:89988920-89988920 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1084T>C; p.F362L; 14:89985163-89985163 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1794G>A; p.P598P; 14:90043110-90043110 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.255C>T; p.L85L; 14:89963369-89963369 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.172A>G; p.R58G; 14:89963286-89963286 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.773C>T; p.A258V; 14:89975797-89975797 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.947C>T; p.P316L; 14:89984578-89984578 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1183G>A; p.V395I; 14:89988956-89988956 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1252G>A; p.E418K; 14:89989025-89989025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1817T>G; p.V606G; 14:90043133-90043133 |
breast | carcinoma | Substitution - Missense |
c.1324C>T; p.P442S; 14:89989723-89989723 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1478A>T; p.H493L; 14:89993420-89993420 |
liver | carcinoma | Substitution - Missense |
c.531G>T; p.K177N; 14:89963645-89963645 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1673A>C; p.K558T; 14:90033134-90033134 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.922G>T; p.G308*; 14:89984553-89984553 |
skin | malignant_melanoma | Substitution - Nonsense |
c.688G>A; p.D230N; 14:89971203-89971203 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.16G>A; p.D6N; 14:89963130-89963130 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.735C>T; p.Y245Y; 14:89971250-89971250 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.16G>A; p.D6N; 14:89963130-89963130 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.810C>T; p.L270L; 14:89980558-89980558 |
skin | malignant_melanoma | Substitution - coding silent |
c.519A>G; p.G173G; 14:89963633-89963633 |
breast | carcinoma | Substitution - coding silent |
c.1444G>T; p.A482S; 14:89993386-89993386 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.182C>T; p.S61L; 14:89963296-89963296 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.182C>T; p.S61L; 14:89963296-89963296 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.182C>T; p.S61L; 14:89963296-89963296 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.182C>T; p.S61L; 14:89963296-89963296 |
skin | malignant_melanoma | Substitution - Missense |
c.513C>A; p.V171V; 14:89963627-89963627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1187_1193delGTCAGTT; p.G396fs*24; 14:89988960-89988966 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.1027C>A; p.H343N; 14:89984658-89984658 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1107T>C; p.N369N; 14:89985186-89985186 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1521T>C; p.I507I; 14:89993463-89993463 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.300G>C; p.M100I; 14:89963414-89963414 |
skin | malignant_melanoma | Substitution - Missense |
c.1270G>T; p.G424W; 14:89989043-89989043 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.252delC; p.L85fs*25; 14:89963366-89963366 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.529A>T; p.K177*; 14:89963643-89963643 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.147C>T; p.S49S; 14:89963261-89963261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.330C>G; p.I110M; 14:89963444-89963444 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 14:89980622-89980622 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.874A>G; p.K292E; 14:89980622-89980622 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1823C>T; p.S608F; 14:90043139-90043139 |
skin | malignant_melanoma | Substitution - Missense |
c.1777C>T; p.P593S; 14:90043093-90043093 |
skin | malignant_melanoma | Substitution - Missense |
c.338_341delAGAA; p.K114fs*98; 14:89963452-89963455 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.945G>A; p.S315S; 14:89984576-89984576 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1425C>A; p.S475S; 14:89991975-89991975 |
skin | malignant_melanoma | Substitution - coding silent |
c.1697C>T; p.P566L; 14:90033158-90033158 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.444A>G; p.S148S; 14:89963558-89963558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.944C>T; p.S315L; 14:89984575-89984575 |
prostate | carcinoma | Substitution - Missense |
c.520G>T; p.V174F; 14:89963634-89963634 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1039C>G; p.L347V; 14:89984670-89984670 |
liver | carcinoma | Substitution - Missense |
c.1182C>T; p.V394V; 14:89988955-89988955 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1603C>T; p.R535C; 14:90019377-90019377 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1608C>T; p.S536S; 14:90019382-90019382 |
skin | malignant_melanoma | Substitution - coding silent |
c.253_255delCTC; p.L85delL; 14:89963367-89963369 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - In frame |
c.911G>A; p.R304Q; 14:89984542-89984542 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.383A>G; p.E128G; 14:89963497-89963497 |
skin | malignant_melanoma | Substitution - Missense |
c.237C>T; p.S79S; 14:89963351-89963351 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.545C>A; p.A182D; 14:89963659-89963659 |
thyroid | carcinoma | Substitution - Missense |
c.1243G>C; p.E415Q; 14:89989016-89989016 |
urinary_tract; bladder | carcinoma | Substitution - Missense |