| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 9097 |
Name | USP14 |
Synonymous | ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase);USP14;ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) |
Definition | deubiquitinating enzyme 14|tRNA-guanine transglycosylase, 60-kD subunit|ubiquitin carboxyl-terminal hydrolase 14|ubiquitin specific protease 14 (tRNA-guanine transglycosylase)|ubiquitin thioesterase 14|ubiquitin thiolesterase 14|ubiquitin-specific process |
Position | 18p11.32 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.371G>A; p.R124H; 18:180306-180306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117A>C; p.K373Q; 18:204645-204645 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1342A>T; p.I448F; 18:211141-211141 |
skin | malignant_melanoma | Substitution - Missense |
c.560C>T; p.A187V; 18:196733-196733 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.905C>A; p.S302Y; 18:202908-202908 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.877C>T; p.R293*; 18:202880-202880 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.1203T>C; p.Y401Y; 18:210009-210009 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1035+10G>A; p.?; 18:203200-203200 |
liver | carcinoma | Unknown |
c.1470G>C; p.E490D; 18:211269-211269 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1036-2A>G; p.?; 18:204562-204562 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.742G>A; p.G248S; 18:198113-198113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.574C>A; p.Q192K; 18:196747-196747 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.171T>A; p.D57E; 18:166795-166795 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.303G>A; p.M101I; 18:180238-180238 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.76C>T; p.P26S; 18:163367-163367 |
skin | malignant_melanoma | Substitution - Missense |
c.972G>C; p.L324F; 18:203127-203127 |
skin | malignant_melanoma | Substitution - Missense |
c.989G>A; p.R330Q; 18:203144-203144 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.911C>T; p.T304M; 18:202914-202914 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.797C>A; p.T266N; 18:199237-199237 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.265G>A; p.V89I; 18:179002-179002 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.689C>T; p.S230F; 18:198060-198060 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.721A>G; p.S241G; 18:198092-198092 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.721A>G; p.S241G; 18:198092-198092 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1236C>A; p.S412S; 18:210396-210396 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.723T>G; p.S241R; 18:198094-198094 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.40A>C; p.K14Q; 18:163331-163331 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.424G>A; p.A142T; 18:192861-192861 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.820C>T; p.Q274*; 18:199260-199260 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.781_783delGAA; p.E264delE; 18:199221-199223 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.781_783delGAA; p.E264delE; 18:199221-199223 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.781_783delGAA; p.E264delE; 18:199221-199223 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.920G>T; p.R307I; 18:202923-202923 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.1018A>C; p.N340H; 18:203173-203173 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.979C>T; p.Q327*; 18:203134-203134 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.201G>T; p.M67I; 18:178938-178938 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.207A>G; p.L69L; 18:178944-178944 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.122C>T; p.P41L; 18:163413-163413 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.872A>T; p.K291I; 18:199312-199312 |
skin | malignant_melanoma | Substitution - Missense |
c.992T>G; p.F331C; 18:203147-203147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.631T>C; p.L211L; 18:197652-197652 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.912G>A; p.T304T; 18:202915-202915 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.631T>C; p.L211L; 18:197652-197652 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.604G>A; p.E202K; 18:197625-197625 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.604G>A; p.E202K; 18:197625-197625 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.797C>T; p.T266I; 18:199237-199237 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.561C>T; p.A187A; 18:196734-196734 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.817C>A; p.L273I; 18:199257-199257 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.613A>C; p.I205L; 18:197634-197634 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1373T>C; p.V458A; 18:211172-211172 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238A>G; p.N413S; 18:210398-210398 |
ovary | other; neoplasm | Substitution - Missense |
c.1238A>G; p.N413S; 18:210398-210398 |
ovary | other; neoplasm | Substitution - Missense |
c.75T>A; p.P25P; 18:163366-163366 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.241G>T; p.E81*; 18:178978-178978 |
breast | carcinoma | Substitution - Nonsense |
c.738C>A; p.F246L; 18:198109-198109 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1021_1022GC>TG; p.A341C; 18:203176-203177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1361A>C; p.K454T; 18:211160-211160 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.241G>A; p.E81K; 18:178978-178978 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.990_991insT; p.Y333fs*2; 18:203145-203146 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.990_991insT; p.Y333fs*2; 18:203145-203146 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.730G>A; p.D244N; 18:198101-198101 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.990_991insT; p.Y333fs*2; 18:203145-203146 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1218T>C; p.F406F; 18:210024-210024 |
breast | carcinoma | Substitution - coding silent |
c.1112G>T; p.R371L; 18:204640-204640 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1448G>A; p.R483H; 18:211247-211247 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.641A>T; p.K214I; 18:197662-197662 |
ovary | other; neoplasm | Substitution - Missense |
c.45T>G; p.F15L; 18:163336-163336 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |