lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	7398
Symbol	USP1
Synonymous	UBP
Full name	ubiquitin specific peptidase 1
Gene description	deubiquitinating enzyme 1\|hUBP\|ubiquitin carboxyl terminal hydrolase 1\|ubiquitin carboxyl-terminal hydrolase 1\|ubiquitin specific processing protease 1\|ubiquitin specific protease 1\|ubiquitin thioesterase 1\|ubiquitin thiolesterase 1\|ubiquitin-specific-pro
Cytoband	1p31.3
Gene type	protein-coding
Synonymous	MIM:603478; HGNC:HGNC:12607; Ensembl:ENSG00000162607; HPRD:04593; Vega:OTTHUMG00000008972

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.670A>G; p.K224E; 1:62444850-62444850	breast	carcinoma	Substitution - Missense
c.1549C>T; p.R517*; 1:62448593-62448593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1075G>A; p.G359R; 1:62445255-62445255	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2225A>G; p.E742G; 1:62450848-62450848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.D502N; 1:62448548-62448548	skin	malignant_melanoma	Substitution - Missense
c.786G>T; p.E262D; 1:62444966-62444966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.596A>C; p.D199A; 1:62444776-62444776	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.716C>T; p.P239L; 1:62444896-62444896	prostate	carcinoma	Substitution - Missense
c.716C>T; p.P239L; 1:62444896-62444896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2206G>A; p.V736I; 1:62450829-62450829	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1515C>T; p.F505F; 1:62448559-62448559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2270T>G; p.V757G; 1:62450893-62450893	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1328G>A; p.C443Y; 1:62447419-62447419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2270T>G; p.V757G; 1:62450893-62450893	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1624T>G; p.F542V; 1:62450247-62450247	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1028A>C; p.K343T; 1:62445208-62445208	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2260G>C; p.E754Q; 1:62450883-62450883	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1725C>G; p.S575R; 1:62450348-62450348	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1725C>G; p.S575R; 1:62450348-62450348	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.875C>G; p.S292*; 1:62445055-62445055	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1315C>T; p.R439C; 1:62447406-62447406	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.350C>T; p.S117L; 1:62442253-62442253	urinary_tract; bladder	carcinoma	Substitution - Missense
c.117C>T; p.F39F; 1:62439984-62439984	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.117C>T; p.F39F; 1:62439984-62439984	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2006T>C; p.L669P; 1:62450629-62450629	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.1236A>C; p.K412N; 1:62445416-62445416	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1149G>A; p.G383G; 1:62445329-62445329	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1236A>C; p.K412N; 1:62445416-62445416	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2130T>C; p.H710H; 1:62450753-62450753	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1002A>T; p.K334N; 1:62445182-62445182	liver	carcinoma	Substitution - Missense
c.1002A>T; p.K334N; 1:62445182-62445182	liver	carcinoma	Substitution - Missense
c.1158A>G; p.E386E; 1:62445338-62445338	skin	malignant_melanoma	Substitution - coding silent
c.646C>T; p.Q216*; 1:62444826-62444826	breast	carcinoma	Substitution - Nonsense
c.2000G>C; p.G667A; 1:62450623-62450623	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.E234K; 1:62444880-62444880	skin	malignant_melanoma	Substitution - Missense
c.1273C>G; p.L425V; 1:62447364-62447364	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>G; p.Q332E; 1:62445174-62445174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1740G>A; p.A580A; 1:62450363-62450363	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2018A>C; p.K673T; 1:62450641-62450641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.77A>C; p.K26T; 1:62439944-62439944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.894A>T; p.R298S; 1:62445074-62445074	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.171-4A>T; p.?; 1:62441484-62441484	liver	carcinoma	Unknown
c.171-4A>T; p.?; 1:62441484-62441484	liver	carcinoma	Unknown
c.1434delA; p.T480fs*3; 1:62448478-62448478	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1820A>G; p.E607G; 1:62450443-62450443	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.955C>T; p.P319S; 1:62445135-62445135	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1152G>T; p.K384N; 1:62445332-62445332	liver	carcinoma	Substitution - Missense
c.529C>G; p.Q177E; 1:62443291-62443291	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.538C>T; p.R180*; 1:62443300-62443300	large_intestine; colon	carcinoma	Substitution - Nonsense
c.529C>G; p.Q177E; 1:62443291-62443291	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.538C>T; p.R180*; 1:62443300-62443300	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.805G>T; p.G269W; 1:62444985-62444985	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.414T>A; p.D138E; 1:62443176-62443176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.634C>G; p.Q212E; 1:62444814-62444814	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.99T>G; p.T33T; 1:62439966-62439966	breast	carcinoma	Substitution - coding silent
c.703G>T; p.E235*; 1:62444883-62444883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.891G>C; p.Q297H; 1:62445071-62445071	skin	malignant_melanoma	Substitution - Missense
c.503A>G; p.E168G; 1:62443265-62443265	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1588A>G; p.I530V; 1:62448632-62448632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1374G>A; p.V458V; 1:62447465-62447465	stomach	adenocarcinoma	Substitution - coding silent
c.127C>G; p.Q43E; 1:62439994-62439994	breast	carcinoma	Substitution - Missense
c.447A>G; p.L149L; 1:62443209-62443209	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.587T>C; p.L196P; 1:62444767-62444767	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1881G>T; p.L627F; 1:62450504-62450504	breast	carcinoma	Substitution - Missense
c.656A>C; p.K219T; 1:62444836-62444836	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1854G>T; p.M618I; 1:62450477-62450477	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.90A>C; p.K30N; 1:62439957-62439957	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.509A>G; p.Y170C; 1:62443271-62443271	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1813A>T; p.S605C; 1:62450436-62450436	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1627G>A; p.D543N; 1:62450250-62450250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1345_1349delAGAAG; p.E451fs*12; 1:62447436-62447440	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1216G>A; p.V406I; 1:62445396-62445396	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>C; p.G393R; 1:62445357-62445357	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1978delA; p.N662fs*2; 1:62450601-62450601	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1978delA; p.N662fs*2; 1:62450601-62450601	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1978delA; p.N662fs*2; 1:62450601-62450601	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1978delA; p.N662fs*2; 1:62450601-62450601	stomach	adenocarcinoma	Deletion - Frameshift
c.1978delA; p.N662fs*2; 1:62450601-62450601	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1978delA; p.N662fs*2; 1:62450601-62450601	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.513T>C; p.T171T; 1:62443275-62443275	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.774_775delAG; p.D259fs*2; 1:62444954-62444955	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2334_2335insT; p.L779fs*5; 1:62450957-62450958	prostate	carcinoma	Insertion - Frameshift
c.749A>G; p.E250G; 1:62444929-62444929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1278G>T; p.V426V; 1:62447369-62447369	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.654delA; p.E221fs*3; 1:62444834-62444834	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2174A>C; p.N725T; 1:62450797-62450797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2026G>A; p.A676T; 1:62450649-62450649	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1723A>G; p.S575G; 1:62450346-62450346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1723A>G; p.S575G; 1:62450346-62450346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1723A>G; p.S575G; 1:62450346-62450346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.599C>T; p.A200V; 1:62444779-62444779	pancreas	carcinoma	Substitution - Missense
c.1516T>A; p.C506S; 1:62448560-62448560	breast	carcinoma	Substitution - Missense
c.1424C>A; p.S475Y; 1:62448468-62448468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2232G>C; p.E744D; 1:62450855-62450855	urinary_tract; bladder	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation