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	3516
Symbol	RBPJ
Synonymous	AOS3\|CBF1\|IGKJRB\|IGKJRB1\|KBF2\|RBP-J\|RBPJK\|RBPSUH\|SUH\|csl
Full name	recombination signal binding protein for immunoglobulin kappa J region
Gene description	CBF-1\|H-2K binding factor-2\|RBP-J kappa\|RBP-JK\|immunoglobulin kappa J region recombination signal binding protein 1\|recombining binding protein suppressor of hairless\|renal carcinoma antigen NY-REN-30\|suppressor of hairless homolog
Cytoband	4p15.2
Gene type	protein-coding
Synonymous	MIM:147183; HGNC:HGNC:5724; Ensembl:ENSG00000168214; HPRD:00920; Vega:OTTHUMG00000097793

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1409C>G; p.A470G; 4:26430955-26430955	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.202delA; p.E71fs*21; 4:26415524-26415524	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.202delA; p.E71fs*21; 4:26415524-26415524	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.839A>G; p.E280G; 4:26428814-26428814	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1169T>C; p.V390A; 4:26430715-26430715	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.107T>C; p.I36T; 4:26406225-26406225	liver	carcinoma	Substitution - Missense
c.107T>C; p.I36T; 4:26406225-26406225	liver	carcinoma	Substitution - Missense
c.1153G>A; p.E385K; 4:26430699-26430699	thyroid	carcinoma	Substitution - Missense
c.396C>A; p.F132L; 4:26420628-26420628	oesophagus	carcinoma	Substitution - Missense
c.226G>A; p.D76N; 4:26415548-26415548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.606G>A; p.Q202Q; 4:26424454-26424454	liver	carcinoma	Substitution - coding silent
c.218T>C; p.M73T; 4:26415540-26415540	urinary_tract; bladder	carcinoma	Substitution - Missense
c.707T>G; p.L236R; 4:26424706-26424706	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1452G>A; p.V484V; 4:26430998-26430998	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.86G>A; p.R29Q; 4:26406204-26406204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.842G>A; p.R281K; 4:26428817-26428817	skin	malignant_melanoma	Substitution - Missense
c.68G>A; p.R23Q; 4:26406186-26406186	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.68G>A; p.R23Q; 4:26406186-26406186	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.996T>C; p.P332P; 4:26430008-26430008	skin	malignant_melanoma	Substitution - coding silent
c.113A>T; p.H38L; 4:26406231-26406231	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1310G>A; p.R437Q; 4:26430856-26430856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.A312T; 4:26429946-26429946	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1192C>G; p.R398G; 4:26430738-26430738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1144A>G; p.R382G; 4:26430521-26430521	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.632-1G>A; p.?; 4:26424630-26424630	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.704A>C; p.K235T; 4:26424703-26424703	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.413A>G; p.D138G; 4:26420645-26420645	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.658G>T; p.E220*; 4:26424657-26424657	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.365G>A; p.R122Q; 4:26420597-26420597	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.109C>T; p.L37F; 4:26406227-26406227	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1352C>T; p.S451L; 4:26430898-26430898	urinary_tract; bladder	carcinoma	Substitution - Missense
c.89G>A; p.G30E; 4:26406207-26406207	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.89G>A; p.G30E; 4:26406207-26406207	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.89G>A; p.G30E; 4:26406207-26406207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89G>A; p.G30E; 4:26406207-26406207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89G>A; p.G30E; 4:26406207-26406207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1093A>T; p.T365S; 4:26430470-26430470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1174C>T; p.P392S; 4:26430720-26430720	skin	malignant_melanoma	Substitution - Missense
c.472C>T; p.Q158*; 4:26420704-26420704	central_nervous_system; brain	glioma	Substitution - Nonsense
c.67C>T; p.R23*; 4:26406185-26406185	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.67C>T; p.R23*; 4:26406185-26406185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.67C>T; p.R23*; 4:26406185-26406185	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Substitution - Nonsense
c.871A>C; p.I291L; 4:26428846-26428846	skin	malignant_melanoma	Substitution - Missense
c.1170C>T; p.V390V; 4:26430716-26430716	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1349A>G; p.N450S; 4:26430895-26430895	central_nervous_system; brain	glioma	Substitution - Missense
c.34C>T; p.P12S; 4:26386369-26386369	skin	malignant_melanoma	Substitution - Missense
c.481delA; p.N162fs*30; 4:26420713-26420713	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.233G>A; p.C78Y; 4:26415555-26415555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.153G>T; p.R51S; 4:26415475-26415475	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.631T>C; p.L211L; 4:26424479-26424479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.204A>G; p.K68K; 4:26415526-26415526	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.654_656delAGA; p.E220delE; 4:26424653-26424655	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.211delG; p.E71fs*21; 4:26415533-26415533	soft_tissue; striated_muscle	rhabdomyosarcoma	Deletion - Frameshift
c.318G>A; p.K106K; 4:26415640-26415640	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.226G>T; p.D76Y; 4:26415548-26415548	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1102T>G; p.L368V; 4:26430479-26430479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>A; p.V390I; 4:26430714-26430714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>A; p.V390I; 4:26430714-26430714	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.300G>A; p.Q100Q; 4:26415622-26415622	skin	malignant_melanoma	Substitution - coding silent
c.1417A>G; p.N473D; 4:26430963-26430963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.651_653delAGG; p.G218delG; 4:26424650-26424652	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.1202G>T; p.W401L; 4:26430748-26430748	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1170C>A; p.V390V; 4:26430716-26430716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.630C>T; p.L210L; 4:26424478-26424478	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.836C>T; p.T279I; 4:26428811-26428811	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.376A>G; p.M126V; 4:26420608-26420608	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.841A>C; p.R281R; 4:26428816-26428816	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.89G>T; p.G30V; 4:26406207-26406207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.122T>C; p.V41A; 4:26406240-26406240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.608G>A; p.W203*; 4:26424456-26424456	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.107T>G; p.I36S; 4:26406225-26406225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.186G>T; p.M62I; 4:26415508-26415508	skin	malignant_melanoma	Substitution - Missense
c.933C>T; p.G311G; 4:26429945-26429945	liver	carcinoma	Substitution - coding silent
c.933C>T; p.G311G; 4:26429945-26429945	liver	carcinoma	Substitution - coding silent
c.933C>T; p.G311G; 4:26429945-26429945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>T; p.G311G; 4:26429945-26429945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>T; p.G311G; 4:26429945-26429945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.154delT; p.C54fs*38; 4:26415476-26415476	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1081G>A; p.G361R; 4:26430458-26430458	skin	malignant_melanoma	Substitution - Missense
c.1171G>A; p.V391I; 4:26430717-26430717	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.250C>T; p.Q84*; 4:26415572-26415572	skin	malignant_melanoma	Substitution - Nonsense
c.1132G>C; p.E378Q; 4:26430509-26430509	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>T; p.C383F; 4:26430694-26430694	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.176T>C; p.V59A; 4:26415498-26415498	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.176T>C; p.V59A; 4:26415498-26415498	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.923T>C; p.I308T; 4:26429935-26429935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.727A>G; p.M243V; 4:26424726-26424726	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation