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	8874
Symbol	ARHGEF7
Synonymous	BETA-PIX\|COOL-1\|COOL1\|Nbla10314\|P50\|P50BP\|P85\|P85COOL1\|P85SPR\|PAK3\|PIXB
Full name	Rho guanine nucleotide exchange factor (GEF) 7
Gene description	PAK-interacting exchange factor beta\|SH3 domain-containing proline-rich protein\|guanine nucleotide exchange factor 7\|rho guanine nucleotide exchange factor 7
Cytoband	13q34
Gene type	protein-coding
Synonymous	MIM:605477; HGNC:HGNC:15607; Ensembl:ENSG00000102606; HPRD:05688; Vega:OTTHUMG00000017357

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1901T>C; p.L634P; 13:111283314-111283314	stomach	adenocarcinoma	Substitution - Missense
c.1833G>A; p.P611P; 13:111283246-111283246	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.623G>T; p.R208L; 13:111217833-111217833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1997G>T; p.R666L; 13:111286193-111286193	breast	carcinoma	Substitution - Missense
c.1163G>A; p.R388H; 13:111273903-111273903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1037A>G; p.N346S; 13:111267634-111267634	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2291A>G; p.Y764C; 13:111292274-111292274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.480T>C; p.D160D; 13:111217690-111217690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.406C>T; p.L136F; 13:111209940-111209940	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.898G>A; p.E300K; 13:111244242-111244242	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.358T>C; p.S120P; 13:111209892-111209892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.358T>C; p.S120P; 13:111209892-111209892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.358T>C; p.S120P; 13:111209892-111209892	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1350C>T; p.G450G; 13:111275609-111275609	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.285G>A; p.Q95Q; 13:111205321-111205321	skin	malignant_melanoma	Substitution - coding silent
c.1098G>T; p.E366D; 13:111273838-111273838	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.808C>T; p.Q270*; 13:111243920-111243920	skin	malignant_melanoma	Substitution - Nonsense
c.1165C>T; p.L389L; 13:111273905-111273905	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1997G>A; p.R666H; 13:111286193-111286193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1116C>T; p.S372S; 13:111273856-111273856	skin	malignant_melanoma	Substitution - coding silent
c.770A>C; p.N257T; 13:111243882-111243882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1613C>T; p.S538L; 13:111280565-111280565	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1858C>A; p.L620M; 13:111283271-111283271	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.377C>G; p.S126W; 13:111209911-111209911	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.376T>C; p.S126P; 13:111209910-111209910	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.652C>T; p.R218C; 13:111217862-111217862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.373C>G; p.P125A; 13:111209907-111209907	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>T; p.F420F; 13:111274778-111274778	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1892T>C; p.L631P; 13:111283305-111283305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1367T>C; p.L456P; 13:111275626-111275626	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2336C>T; p.S779F; 13:111292319-111292319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.348G>T; p.L116L; 13:111209882-111209882	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.672G>A; p.E224E; 13:111233206-111233206	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.147C>A; p.L49L; 13:111115673-111115673	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.344G>T; p.G115V; 13:111209878-111209878	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1436A>C; p.Y479S; 13:111277603-111277603	urinary_tract; bladder	carcinoma	Substitution - Missense
c.813T>A; p.T271T; 13:111243925-111243925	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.480T>G; p.D160E; 13:111217690-111217690	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.940G>T; p.E314*; 13:111244284-111244284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2210G>A; p.R737H; 13:111292193-111292193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1903C>A; p.R635R; 13:111283316-111283316	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.983G>C; p.C328S; 13:111267580-111267580	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1392G>A; p.Q464Q; 13:111275651-111275651	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1325C>T; p.T442M; 13:111275584-111275584	pancreas	NS	Substitution - Missense
c.1247C>T; p.S416F; 13:111274765-111274765	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1969A>G; p.K657E; 13:111286165-111286165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1597G>T; p.E533*; 13:111280549-111280549	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1325C>T; p.T442M; 13:111275584-111275584	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1024A>T; p.T342S; 13:111267621-111267621	kidney	other; neoplasm	Substitution - Missense
c.1543C>T; p.L515F; 13:111280308-111280308	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>T; p.S303F; 13:111244252-111244252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2068G>T; p.A690S; 13:111288377-111288377	liver	carcinoma	Substitution - Missense
c.2068G>T; p.A690S; 13:111288377-111288377	liver	carcinoma	Substitution - Missense
c.1040A>C; p.H347P; 13:111267637-111267637	breast	carcinoma	Substitution - Missense
c.606G>A; p.E202E; 13:111217816-111217816	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.955C>T; p.P319S; 13:111267552-111267552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.955C>T; p.P319S; 13:111267552-111267552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1504C>T; p.Q502*; 13:111277671-111277671	breast	carcinoma	Substitution - Nonsense
c.147C>T; p.L49L; 13:111115673-111115673	skin	malignant_melanoma	Substitution - coding silent
c.1672G>A; p.V558I; 13:111280624-111280624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.475A>G; p.T159A; 13:111217685-111217685	thyroid	carcinoma	Substitution - Missense
c.749A>C; p.Y250S; 13:111233283-111233283	soft_tissue; striated_muscle	rhabdoid_tumour	Substitution - Missense
c.2212C>T; p.R738C; 13:111292195-111292195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.653G>A; p.R218H; 13:111217863-111217863	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.393G>T; p.K131N; 13:111209927-111209927	prostate	carcinoma	Substitution - Missense
c.1705C>T; p.H569Y; 13:111280657-111280657	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1296G>T; p.K432N; 13:111275555-111275555	thyroid	other; neoplasm	Substitution - Missense
c.832C>T; p.R278W; 13:111243944-111243944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61delA; p.T23fs*13; 13:111115587-111115587	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.61delA; p.T23fs*13; 13:111115587-111115587	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.61delA; p.T23fs*13; 13:111115587-111115587	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.61delA; p.T23fs*13; 13:111115587-111115587	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2197G>T; p.D733Y; 13:111292180-111292180	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2303C>T; p.S768F; 13:111292286-111292286	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1903C>T; p.R635W; 13:111283316-111283316	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1779G>A; p.A593A; 13:111283192-111283192	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2127C>G; p.L709L; 13:111288436-111288436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2241A>G; p.S747S; 13:111292224-111292224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1124T>C; p.I375T; 13:111273864-111273864	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.359C>A; p.S120Y; 13:111209893-111209893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2325C>G; p.C775W; 13:111292308-111292308	skin	malignant_melanoma	Substitution - Missense
c.345G>A; p.G115G; 13:111209879-111209879	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.944G>T; p.C315F; 13:111244288-111244288	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.944G>T; p.C315F; 13:111244288-111244288	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1258T>C; p.F420L; 13:111274776-111274776	breast	carcinoma	Substitution - Missense
c.1029T>C; p.Y343Y; 13:111267626-111267626	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.624G>T; p.R208R; 13:111217834-111217834	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.1678T>C; p.S560P; 13:111280630-111280630	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.518A>G; p.N173S; 13:111217728-111217728	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.954G>A; p.L318L; 13:111267551-111267551	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.65A>C; p.K22T; 13:111115591-111115591	large_intestine; colon	carcinoma	Substitution - Missense
c.65A>C; p.K22T; 13:111115591-111115591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.68C>A; p.T23N; 13:111115594-111115594	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.910T>G; p.F304V; 13:111244254-111244254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.925G>T; p.V309L; 13:111244269-111244269	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.268G>A; p.D90N; 13:111205304-111205304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2305A>G; p.T769A; 13:111292288-111292288	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.70A>G; p.I24V; 13:111115596-111115596	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2031C>T; p.F677F; 13:111286227-111286227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1680_1681delTG; p.V561fs*92; 13:111280632-111280633	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.386G>A; p.R129H; 13:111209920-111209920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.386G>A; p.R129H; 13:111209920-111209920	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.2201C>T; p.S734F; 13:111292184-111292184	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1648G>C; p.E550Q; 13:111280600-111280600	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1977G>A; p.M659I; 13:111286173-111286173	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.204C>T; p.S68S; 13:111153943-111153943	breast	carcinoma	Substitution - coding silent
c.549C>A; p.S183S; 13:111217759-111217759	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.566T>C; p.V189A; 13:111217776-111217776	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.619G>A; p.G207S; 13:111217829-111217829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1610T>C; p.V537A; 13:111280562-111280562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1601G>A; p.R534Q; 13:111280553-111280553	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.60_61insA; p.T23fs*65; 13:111115586-111115587	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1609G>T; p.V537L; 13:111280561-111280561	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.622C>T; p.R208W; 13:111217832-111217832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2327C>G; p.S776*; 13:111292310-111292310	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1425G>T; p.K475N; 13:111277592-111277592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1234G>A; p.D412N; 13:111274752-111274752	breast	carcinoma	Substitution - Missense
c.2023G>A; p.E675K; 13:111286219-111286219	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1976T>G; p.M659R; 13:111286172-111286172	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1781C>T; p.P594L; 13:111283194-111283194	skin	malignant_melanoma	Substitution - Missense
c.1425G>T; p.K475N; 13:111277592-111277592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2213G>A; p.R738H; 13:111292196-111292196	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2213G>A; p.R738H; 13:111292196-111292196	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2213G>A; p.R738H; 13:111292196-111292196	pancreas	carcinoma	Substitution - Missense
c.1292G>A; p.R431Q; 13:111275551-111275551	breast	carcinoma	Substitution - Missense
c.1676C>T; p.T559M; 13:111280628-111280628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1533A>G; p.T511T; 13:111280298-111280298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1470G>C; p.L490F; 13:111277637-111277637	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.994C>A; p.L332M; 13:111267591-111267591	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1420G>A; p.E474K; 13:111277587-111277587	urinary_tract; bladder	carcinoma	Substitution - Missense
c.123C>G; p.L41L; 13:111115649-111115649	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.718G>T; p.G240*; 13:111233252-111233252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.940G>A; p.E314K; 13:111244284-111244284	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.82G>A; p.E28K; 13:111115608-111115608	pancreas	carcinoma	Substitution - Missense
c.82G>A; p.E28K; 13:111115608-111115608	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.956_957CC>TT; p.P319L; 13:111267553-111267554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1179T>C; p.P393P; 13:111273919-111273919	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.863C>T; p.S288L; 13:111244207-111244207	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.360C>T; p.S120S; 13:111209894-111209894	skin	malignant_melanoma	Substitution - coding silent
c.360C>T; p.S120S; 13:111209894-111209894	skin	malignant_melanoma	Substitution - coding silent
c.360C>T; p.S120S; 13:111209894-111209894	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1777G>A; p.A593T; 13:111283190-111283190	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2169C>T; p.V723V; 13:111292152-111292152	large_intestine; rectum	adenoma	Substitution - coding silent
c.1777G>A; p.A593T; 13:111283190-111283190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2107G>A; p.A703T; 13:111288416-111288416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1062C>A; p.L354L; 13:111267659-111267659	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation