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	10411
Symbol	RAPGEF3
Synonymous	CAMP-GEFI\|EPAC\|EPAC1\|HSU79275\|bcm910
Full name	Rap guanine nucleotide exchange factor (GEF) 3
Gene description	9330170P05Rik\|EPAC 1\|Rap1 guanine-nucleotide-exchange factor directly activated by cAMP\|cAMP-regulated guanine nucleotide exchange factor I\|exchange factor directly activated by cAMP 1\|exchange protein directly activated by cAMP 1\|rap guanine nucleotide e
Cytoband	12q13.1
Gene type	protein-coding
Synonymous	MIM:606057; HGNC:HGNC:16629; Ensembl:ENSG00000079337; HPRD:06928; Vega:OTTHUMG00000133667

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1019G>A; p.G340D; 12:47748828-47748828	pancreas	carcinoma	Substitution - Missense
c.719C>T; p.S240L; 12:47749790-47749790	skin; trunk	malignant_melanoma	Substitution - Missense
c.2121G>T; p.K707N; 12:47740380-47740380	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1104T>A; p.A368A; 12:47748467-47748467	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2404A>G; p.M802V; 12:47738244-47738244	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2320C>T; p.P774S; 12:47739158-47739158	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.491C>T; p.A164V; 12:47751102-47751102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2038C>G; p.L680V; 12:47740709-47740709	pleura	pulmonary_blastoma	Substitution - Missense
c.883G>A; p.V295M; 12:47749422-47749422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.441C>T; p.P147P; 12:47751152-47751152	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1887G>A; p.T629T; 12:47740951-47740951	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1059G>A; p.K353K; 12:47748512-47748512	skin	malignant_melanoma	Substitution - coding silent
c.617delA; p.H206fs*6; 12:47750354-47750354	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1246G>A; p.V416I; 12:47747813-47747813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1776C>G; p.N592K; 12:47741526-47741526	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1764C>G; p.L588L; 12:47741538-47741538	skin	malignant_melanoma	Substitution - coding silent
c.1987G>A; p.E663K; 12:47740760-47740760	skin	malignant_melanoma	Substitution - Missense
c.2645G>A; p.882; 12:47737568-47737568	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1617C>T; p.S539S; 12:47743612-47743612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516C>T; p.P506S; 12:47744023-47744023	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2111A>C; p.K704T; 12:47740390-47740390	skin	malignant_melanoma	Substitution - Missense
c.1324C>T; p.P442S; 12:47747735-47747735	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.484G>A; p.A162T; 12:47751109-47751109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2053G>A; p.V685M; 12:47740694-47740694	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.874T>G; p.F292V; 12:47749431-47749431	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1830G>A; p.V610V; 12:47741008-47741008	skin	malignant_melanoma	Substitution - coding silent
c.649G>A; p.A217T; 12:47749972-47749972	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1862C>T; p.A621V; 12:47740976-47740976	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1354T>C; p.S452P; 12:47747620-47747620	skin	malignant_melanoma	Substitution - Missense
c.448_449insAGCCCG; p.P149_V150insEP; 12:47751144-47751145	breast	carcinoma	Insertion - In frame
c.950A>G; p.H317R; 12:47748897-47748897	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2402G>T; p.R801I; 12:47738246-47738246	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1117G>T; p.E373*; 12:47748454-47748454	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.647C>T; p.A216V; 12:47749974-47749974	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2621G>A; p.R874H; 12:47737592-47737592	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2238G>A; p.E746E; 12:47740150-47740150	skin	malignant_melanoma	Substitution - coding silent
c.887A>G; p.D296G; 12:47749418-47749418	oesophagus	carcinoma	Substitution - Missense
c.606G>T; p.K202N; 12:47750365-47750365	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.589G>A; p.E197K; 12:47750382-47750382	skin	malignant_melanoma	Substitution - Missense
c.1564A>G; p.I522V; 12:47743665-47743665	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.166C>T; p.L56F; 12:47751811-47751811	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1323C>T; p.D441D; 12:47747736-47747736	skin	malignant_melanoma	Substitution - coding silent
c.1964G>A; p.R655Q; 12:47740783-47740783	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1990C>G; p.R664G; 12:47740757-47740757	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1624G>T; p.E542*; 12:47743605-47743605	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2050_2051CC>TT; p.P684F; 12:47740696-47740697	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2356G>A; p.G786R; 12:47738734-47738734	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2356G>A; p.G786R; 12:47738734-47738734	skin	malignant_melanoma	Substitution - Missense
c.2356G>A; p.G786R; 12:47738734-47738734	skin	malignant_melanoma	Substitution - Missense
c.991G>A; p.A331T; 12:47748856-47748856	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1281C>T; p.V427V; 12:47747778-47747778	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.561G>A; p.T187T; 12:47750410-47750410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1841A>G; p.E614G; 12:47740997-47740997	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.169A>G; p.R57G; 12:47751808-47751808	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.169A>G; p.R57G; 12:47751808-47751808	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2323C>T; p.L775F; 12:47739155-47739155	skin; neck	malignant_melanoma	Substitution - Missense
c.985C>G; p.Q329E; 12:47748862-47748862	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1273C>T; p.R425W; 12:47747786-47747786	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1325C>A; p.P442H; 12:47747734-47747734	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.D236N; 12:47749803-47749803	skin	malignant_melanoma	Substitution - Missense
c.557G>A; p.R186H; 12:47750414-47750414	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.722G>T; p.W241L; 12:47749787-47749787	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1368C>A; p.G456G; 12:47747606-47747606	liver	carcinoma	Substitution - coding silent
c.876C>T; p.F292F; 12:47749429-47749429	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1341C>T; p.F447F; 12:47747718-47747718	skin	malignant_melanoma	Substitution - coding silent
c.399G>A; p.Q133Q; 12:47751194-47751194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1168G>A; p.A390T; 12:47748102-47748102	prostate	carcinoma	Substitution - Missense
c.1341C>T; p.F447F; 12:47747718-47747718	skin	malignant_melanoma	Substitution - coding silent
c.275A>G; p.E92G; 12:47751500-47751500	skin	malignant_melanoma	Substitution - Missense
c.614C>T; p.A205V; 12:47750357-47750357	liver	carcinoma	Substitution - Missense
c.2230G>A; p.A744T; 12:47740158-47740158	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1494C>T; p.L498L; 12:47744045-47744045	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1885A>T; p.T629S; 12:47740953-47740953	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.686C>T; p.T229I; 12:47749935-47749935	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1849G>A; p.D617N; 12:47740989-47740989	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2623C>A; p.L875I; 12:47737590-47737590	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1923+3A>G; p.?; 12:47740912-47740912	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Unknown
c.655C>T; p.L219L; 12:47749966-47749966	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.2314T>C; p.F772L; 12:47739164-47739164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.891G>T; p.K297N; 12:47749414-47749414	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.856C>T; p.R286*; 12:47749449-47749449	ovary	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1312C>A; p.L438I; 12:47747747-47747747	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1914T>C; p.S638S; 12:47740924-47740924	skin	malignant_melanoma	Substitution - coding silent
c.2142C>T; p.A714A; 12:47740359-47740359	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2177G>A; p.R726H; 12:47740324-47740324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.384C>T; p.H128H; 12:47751209-47751209	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1471G>A; p.A491T; 12:47744068-47744068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2233C>T; p.L745F; 12:47740155-47740155	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1655G>A; p.G552D; 12:47743574-47743574	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2542C>T; p.L848L; 12:47737671-47737671	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1144A>T; p.T382S; 12:47748126-47748126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1420C>T; p.R474*; 12:47747554-47747554	breast	carcinoma	Substitution - Nonsense
c.1160T>A; p.M387K; 12:47748110-47748110	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.2311C>T; p.P771S; 12:47739167-47739167	skin	malignant_melanoma	Substitution - Missense
c.1474C>A; p.R492R; 12:47744065-47744065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1838C>T; p.A613V; 12:47741000-47741000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2247+1G>A; p.?; 12:47740140-47740140	skin	malignant_melanoma	Unknown
c.2326C>T; p.L776F; 12:47739152-47739152	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.341G>T; p.C114F; 12:47751434-47751434	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1845G>T; p.G615G; 12:47740993-47740993	liver	carcinoma	Substitution - coding silent
c.1845G>T; p.G615G; 12:47740993-47740993	liver	carcinoma	Substitution - coding silent
c.916-3C>T; p.?; 12:47748934-47748934	skin; trunk	malignant_melanoma; nodular	Unknown
c.1468A>T; p.K490*; 12:47746862-47746862	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.447C>T; p.P149P; 12:47751146-47751146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.688G>A; p.V230M; 12:47749933-47749933	pancreas	carcinoma	Substitution - Missense
c.2190C>A; p.T730T; 12:47740311-47740311	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.688G>A; p.V230M; 12:47749933-47749933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1783G>A; p.E595K; 12:47741519-47741519	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2627C>T; p.S876F; 12:47737586-47737586	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1459C>T; p.P487S; 12:47746871-47746871	skin	malignant_melanoma	Substitution - Missense
c.1633G>A; p.A545T; 12:47743596-47743596	skin	malignant_melanoma	Substitution - Missense
c.161G>C; p.R54P; 12:47751816-47751816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1624G>A; p.E542K; 12:47743605-47743605	skin	malignant_melanoma	Substitution - Missense
c.204C>T; p.A68A; 12:47751773-47751773	skin	malignant_melanoma	Substitution - coding silent
c.995G>A; p.G332D; 12:47748852-47748852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1046G>A; p.G349D; 12:47748525-47748525	skin	malignant_melanoma	Substitution - Missense
c.1132G>A; p.D378N; 12:47748138-47748138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>T; p.D119Y; 12:47751420-47751420	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.938G>A; p.R313Q; 12:47748909-47748909	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.652G>A; p.V218I; 12:47749969-47749969	central_nervous_system; brain	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.938G>A; p.R313Q; 12:47748909-47748909	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1105C>T; p.H369Y; 12:47748466-47748466	breast	carcinoma	Substitution - Missense
c.370T>C; p.C124R; 12:47751405-47751405	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.904C>T; p.R302C; 12:47749401-47749401	skin	malignant_melanoma	Substitution - Missense
c.2259G>A; p.W753*; 12:47739219-47739219	skin	malignant_melanoma	Substitution - Nonsense
c.1622G>T; p.R541I; 12:47743607-47743607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.994G>A; p.G332S; 12:47748853-47748853	thyroid	other; neoplasm	Substitution - Missense
c.994G>A; p.G332S; 12:47748853-47748853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2229C>T; p.S743S; 12:47740159-47740159	skin	malignant_melanoma	Substitution - coding silent
c.705G>A; p.G235G; 12:47749804-47749804	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1629G>C; p.V543V; 12:47743600-47743600	prostate	carcinoma	Substitution - coding silent
c.170G>C; p.R57T; 12:47751807-47751807	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation