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	27342
Symbol	RABGEF1
Synonymous	RABEX5\|RAP1\|rabex-5
Full name	RAB guanine nucleotide exchange factor (GEF) 1
Gene description	rab5 GDP/GTP exchange factor\|rabaptin-5-associated exchange factor for Rab5
Cytoband	7q11.21
Gene type	protein-coding
Synonymous	MIM:609700; HGNC:HGNC:17676; Ensembl:ENSG00000154710; Vega:OTTHUMG00000129547

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1111G>A; p.A371T; 7:66808919-66808919	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1111G>A; p.A371T; 7:66808919-66808919	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1348C>G; p.Q450E; 7:66809156-66809156	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.199G>C; p.E67Q; 7:66775246-66775246	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.595+5C>T; p.?; 7:66795597-66795597	NS	NS	Unknown
c.1161C>T; p.G387G; 7:66808969-66808969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.263A>G; p.E88G; 7:66775310-66775310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1147C>T; p.R383C; 7:66808955-66808955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.78C>T; p.Y26Y; 7:66771977-66771977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.956T>C; p.L319P; 7:66805275-66805275	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.981delC; p.P329fs*19; 7:66805300-66805300	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.190G>A; p.E64K; 7:66775237-66775237	breast	carcinoma	Substitution - Missense
c.446T>C; p.F149S; 7:66783774-66783774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.312C>A; p.F104L; 7:66775359-66775359	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.861G>A; p.K287K; 7:66805180-66805180	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.303G>A; p.V101V; 7:66775350-66775350	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.825C>A; p.I275I; 7:66805144-66805144	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.277G>A; p.E93K; 7:66775324-66775324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1360G>A; p.E454K; 7:66809168-66809168	breast	carcinoma	Substitution - Missense
c.321A>G; p.A107A; 7:66775368-66775368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.497G>C; p.G166A; 7:66783825-66783825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1147C>A; p.R383S; 7:66808955-66808955	skin	malignant_melanoma	Substitution - Missense
c.1147C>A; p.R383S; 7:66808955-66808955	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1189G>A; p.E397K; 7:66808997-66808997	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1073A>G; p.N358S; 7:66805392-66805392	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1080C>T; p.C360C; 7:66808888-66808888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1367A>G; p.Y456C; 7:66809175-66809175	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.613G>T; p.E205*; 7:66797391-66797391	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1075C>G; p.L359V; 7:66805394-66805394	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.333C>T; p.V111V; 7:66775380-66775380	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.411A>G; p.R137R; 7:66783739-66783739	ovary	other; neoplasm	Substitution - coding silent
c.986C>T; p.P329L; 7:66805305-66805305	skin	malignant_melanoma	Substitution - Missense
c.377C>T; p.S126F; 7:66783705-66783705	skin	malignant_melanoma	Substitution - Missense
c.331G>A; p.V111I; 7:66775378-66775378	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.857A>G; p.D286G; 7:66805176-66805176	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.60G>A; p.K20K; 7:66771959-66771959	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1110C>T; p.D370D; 7:66808918-66808918	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1183G>T; p.E395*; 7:66808991-66808991	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.577A>T; p.M193L; 7:66795574-66795574	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.310delT; p.F104fs*24; 7:66775357-66775357	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1281C>T; p.I427I; 7:66809089-66809089	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1388C>A; p.P463Q; 7:66809196-66809196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.978C>A; p.G326G; 7:66805297-66805297	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.538G>T; p.E180*; 7:66795535-66795535	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.980_981insC; p.R330fs*5; 7:66805299-66805300	oesophagus; lower_third	carcinoma; adenocarcinoma	Insertion - Frameshift
c.899A>G; p.N300S; 7:66805218-66805218	breast	carcinoma	Substitution - Missense
c.1408A>G; p.I470V; 7:66809216-66809216	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.938A>G; p.D313G; 7:66805257-66805257	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.835G>T; p.D279Y; 7:66805154-66805154	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.173C>T; p.A58V; 7:66772072-66772072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>C; p.E180Q; 7:66795535-66795535	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1012A>G; p.I338V; 7:66805331-66805331	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1432G>T; p.D478Y; 7:66809240-66809240	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.403A>G; p.T135A; 7:66783731-66783731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.772A>G; p.N258D; 7:66799366-66799366	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1005C>T; p.I335I; 7:66805324-66805324	skin	malignant_melanoma	Substitution - coding silent
c.1005C>G; p.I335M; 7:66805324-66805324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.315C>T; p.F105F; 7:66775362-66775362	oesophagus	carcinoma	Substitution - coding silent
c.1264G>C; p.E422Q; 7:66809072-66809072	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1388C>T; p.P463L; 7:66809196-66809196	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>T; p.P250L; 7:66799343-66799343	skin	malignant_melanoma	Substitution - Missense
c.324T>C; p.S108S; 7:66775371-66775371	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.705T>C; p.D235D; 7:66797483-66797483	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.652C>T; p.R218C; 7:66797430-66797430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.742G>T; p.V248F; 7:66799336-66799336	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.705T>C; p.D235D; 7:66797483-66797483	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.737G>T; p.R246L; 7:66799331-66799331	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1003A>G; p.I335V; 7:66805322-66805322	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.220A>T; p.S74C; 7:66775267-66775267	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1246C>A; p.L416I; 7:66809054-66809054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1230G>T; p.M410I; 7:66809038-66809038	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.287G>A; p.R96H; 7:66775334-66775334	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.85_88delCCTG; p.A30fs*71; 7:66771984-66771987	breast	carcinoma	Deletion - Frameshift
c.728+1G>A; p.?; 7:66797507-66797507	thyroid	carcinoma	Unknown
c.728+1G>A; p.?; 7:66797507-66797507	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Unknown
c.856G>T; p.D286Y; 7:66805175-66805175	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.873C>T; p.I291I; 7:66805192-66805192	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.939T>C; p.D313D; 7:66805258-66805258	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.319G>A; p.A107T; 7:66775366-66775366	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.989G>A; p.R330H; 7:66805308-66805308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.323C>T; p.S108F; 7:66775370-66775370	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.371G>C; p.S124T; 7:66783699-66783699	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.371G>C; p.S124T; 7:66783699-66783699	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia	Substitution - Missense
c.80G>T; p.G27V; 7:66771979-66771979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.796G>C; p.D266H; 7:66799390-66799390	urinary_tract; bladder	carcinoma	Substitution - Missense
c.961T>G; p.Y321D; 7:66805280-66805280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1395A>G; p.Q465Q; 7:66809203-66809203	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.245C>T; p.T82I; 7:66775292-66775292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation