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	83593
Symbol	RASSF5
Synonymous	Maxp1\|NORE1\|NORE1A\|NORE1B\|RAPL\|RASSF3
Full name	Ras association (RalGDS/AF-6) domain family member 5
Gene description	Rap1-binding protein\|Ras association (RalGDS/AF-6) domain family 5\|Ras effector-like protein\|new ras effector 1\|novel Ras effector 1\|ras association domain-containing protein 5\|regulator for cell adhesion and polarization enriched in lymphoid tissue\|tumor
Cytoband	1q32.1
Gene type	protein-coding
Synonymous	MIM:607020; HGNC:HGNC:17609; Ensembl:ENSG00000266094; HPRD:06117; Vega:OTTHUMG00000184616

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1191G>C; p.K397N; 1:206586912-206586912	breast	carcinoma	Substitution - Missense
c.660G>A; p.T220T; 1:206583349-206583349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.520G>C; p.E174Q; 1:206538234-206538234	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.499C>T; p.Q167*; 1:206538213-206538213	skin	malignant_melanoma	Substitution - Nonsense
c.499C>T; p.Q167*; 1:206538213-206538213	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.395G>A; p.G132D; 1:206507997-206507997	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.906C>T; p.I302I; 1:206584602-206584602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.745C>T; p.P249S; 1:206584441-206584441	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.823G>A; p.D275N; 1:206584519-206584519	skin	malignant_melanoma	Substitution - Missense
c.1122C>A; p.I374I; 1:206586843-206586843	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1105-1G>A; p.?; 1:206586825-206586825	pancreas	carcinoma; acinar_carcinoma	Unknown
c.1234G>T; p.E412*; 1:206586955-206586955	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.756G>A; p.V252V; 1:206584452-206584452	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1234G>T; p.E412*; 1:206586955-206586955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	thyroid	other; neoplasm	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	thyroid	other; neoplasm	Substitution - coding silent
c.48A>C; p.L16L; 1:206507650-206507650	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.109delC; p.D39fs*127; 1:206507711-206507711	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.838T>G; p.F280V; 1:206584534-206584534	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.487C>T; p.R163C; 1:206538201-206538201	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1036C>A; p.L346M; 1:206585227-206585227	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>T; p.A286V; 1:206584553-206584553	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.756G>T; p.V252V; 1:206584452-206584452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.150C>G; p.L50L; 1:206507752-206507752	ovary	other; neoplasm	Substitution - coding silent
c.981C>G; p.D327E; 1:206584677-206584677	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.479C>T; p.P160L; 1:206538193-206538193	skin	malignant_melanoma	Substitution - Missense
c.1033C>T; p.R345C; 1:206585224-206585224	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1131T>G; p.L377L; 1:206586852-206586852	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.959delT; p.F321fs*39; 1:206584655-206584655	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1221G>C; p.E407D; 1:206586942-206586942	breast	carcinoma	Substitution - Missense
c.520G>A; p.E174K; 1:206538234-206538234	skin	malignant_melanoma	Substitution - Missense
c.760G>C; p.A254P; 1:206584456-206584456	breast	carcinoma	Substitution - Missense
c.482A>T; p.E161V; 1:206538196-206538196	skin	malignant_melanoma	Substitution - Missense
c.565G>A; p.V189M; 1:206538279-206538279	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.146C>T; p.P49L; 1:206507748-206507748	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.743G>A; p.R248Q; 1:206584439-206584439	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.847C>A; p.P283T; 1:206584543-206584543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.333G>A; p.Q111Q; 1:206507935-206507935	skin	malignant_melanoma	Substitution - coding silent
c.564C>T; p.T188T; 1:206538278-206538278	central_nervous_system; brain	glioma	Substitution - coding silent
c.376G>T; p.A126S; 1:206507978-206507978	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.983G>A; p.G328E; 1:206584679-206584679	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.777G>A; p.Q259Q; 1:206584473-206584473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.837C>A; p.S279S; 1:206584533-206584533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>A; p.D390N; 1:206586889-206586889	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.329C>T; p.P110L; 1:206507931-206507931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523G>C; p.G175R; 1:206538237-206538237	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.539G>A; p.R180K; 1:206538253-206538253	skin	malignant_melanoma	Substitution - Missense
c.399delC; p.G135fs*31; 1:206508001-206508001	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.49T>C; p.L17L; 1:206507651-206507651	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.957A>G; p.A319A; 1:206584653-206584653	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.761C>T; p.A254V; 1:206584457-206584457	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.806A>G; p.N269S; 1:206584502-206584502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>A; p.V312M; 1:206584630-206584630	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1108G>A; p.D370N; 1:206586829-206586829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.711G>A; p.T237T; 1:206584407-206584407	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.739C>T; p.R247W; 1:206584435-206584435	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1069T>G; p.F357V; 1:206585260-206585260	breast	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation