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	80279
Symbol	CDK5RAP3
Synonymous	C53\|HSF-27\|IC53\|LZAP\|MST016\|OK/SW-cl.114\|PP1553
Full name	CDK5 regulatory subunit associated protein 3
Gene description	CDK5 regulatory subunit associated protein IC53-2\|CDK5 regulatory subunit-associated protein 3\|LXXLL/leucine-zipper-containing ARF-binding protein\|LXXLL/leucine-zipper-containing ARFbinding protein\|ischemic heart CDK5 activator-binding protein C53
Cytoband	17q21.32
Gene type	protein-coding
Synonymous	MIM:608202; HGNC:HGNC:18673; Ensembl:ENSG00000108465; HPRD:12190; Vega:OTTHUMG00000178682

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.318G>A; p.K106K; 17:47974432-47974432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1060C>A; p.L354I; 17:47978900-47978900	liver	carcinoma	Substitution - Missense
c.1302T>C; p.T434T; 17:47981181-47981181	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.406T>G; p.C136G; 17:47975230-47975230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.242C>T; p.S81F; 17:47973988-47973988	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1054C>T; p.Q352*; 17:47978894-47978894	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.73C>T; p.H25Y; 17:47973539-47973539	NS	NS	Substitution - Missense
c.1239C>A; p.T413T; 17:47980754-47980754	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.434G>A; p.R145H; 17:47975258-47975258	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1089C>A; p.F363L; 17:47980604-47980604	breast	carcinoma	Substitution - Missense
c.1505T>C; p.M502T; 17:47981486-47981486	skin	malignant_melanoma	Substitution - Missense
c.1325A>T; p.K442M; 17:47981204-47981204	liver	carcinoma	Substitution - Missense
c.1402C>T; p.L468L; 17:47981281-47981281	skin	malignant_melanoma	Substitution - coding silent
c.516C>T; p.G172G; 17:47975516-47975516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.753A>G; p.E251E; 17:47975968-47975968	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.753A>G; p.E251E; 17:47975968-47975968	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1464T>A; p.A488A; 17:47981445-47981445	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.753A>G; p.E251E; 17:47975968-47975968	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.753A>G; p.E251E; 17:47975968-47975968	breast	carcinoma	Substitution - coding silent
c.753A>G; p.E251E; 17:47975968-47975968	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1203G>T; p.M401I; 17:47980718-47980718	lung	carcinoma; mucoepidermoid_carcinoma	Substitution - Missense
c.753A>G; p.E251E; 17:47975968-47975968	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.890T>C; p.F297S; 17:47976803-47976803	skin	malignant_melanoma	Substitution - Missense
c.1078-2A>T; p.?; 17:47980591-47980591	stomach	carcinoma; adenocarcinoma	Unknown
c.909+1G>A; p.?; 17:47976823-47976823	lung	carcinoma; adenocarcinoma	Unknown
c.720G>A; p.E240E; 17:47975935-47975935	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.439G>T; p.E147*; 17:47975263-47975263	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.814_815delTT; p.F272fs*7; 17:47976727-47976728	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.672G>T; p.L224F; 17:47975887-47975887	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.52+1G>T; p.?; 17:47971408-47971408	prostate	carcinoma; adenocarcinoma	Unknown
c.134T>C; p.I45T; 17:47973600-47973600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.737A>C; p.E246A; 17:47975952-47975952	pancreas	carcinoma	Substitution - Missense
c.737A>C; p.E246A; 17:47975952-47975952	pancreas	carcinoma	Substitution - Missense
c.737A>C; p.E246A; 17:47975952-47975952	pancreas	carcinoma	Substitution - Missense
c.260G>T; p.G87V; 17:47974006-47974006	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1512C>A; p.T504T; 17:47981493-47981493	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.687C>T; p.F229F; 17:47975902-47975902	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.755G>A; p.R252Q; 17:47975970-47975970	skin	malignant_melanoma	Substitution - Missense
c.687C>T; p.F229F; 17:47975902-47975902	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1078-9T>A; p.?; 17:47980584-47980584	kidney	other; neoplasm	Unknown
c.1013C>G; p.P338R; 17:47978853-47978853	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.176C>A; p.S59Y; 17:47973642-47973642	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.342C>G; p.L114L; 17:47975166-47975166	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.437_439delAGG; p.E149delE; 17:47975261-47975263	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.877G>A; p.D293N; 17:47976790-47976790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1196T>A; p.V399D; 17:47980711-47980711	skin; trunk	malignant_melanoma	Substitution - Missense
c.400G>T; p.A134S; 17:47975224-47975224	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.532G>T; p.E178*; 17:47975532-47975532	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1389G>A; p.E463E; 17:47981268-47981268	pancreas	carcinoma	Substitution - coding silent
c.175T>C; p.S59P; 17:47973641-47973641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.286G>A; p.D96N; 17:47974400-47974400	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1003G>T; p.A335S; 17:47978843-47978843	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.139G>A; p.D47N; 17:47973605-47973605	pancreas	carcinoma	Substitution - Missense
c.1283+2T>C; p.?; 17:47980800-47980800	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.811G>A; p.D271N; 17:47976724-47976724	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1103C>T; p.A368V; 17:47980618-47980618	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.278G>A; p.R93Q; 17:47974024-47974024	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.R93Q; 17:47974024-47974024	large_intestine; colon	carcinoma	Substitution - Missense
c.278G>A; p.R93Q; 17:47974024-47974024	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.R497C; 17:47981470-47981470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857C>G; p.S286C; 17:47976770-47976770	skin	malignant_melanoma	Substitution - Missense
c.436A>T; p.K146*; 17:47975260-47975260	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.145C>T; p.P49S; 17:47973611-47973611	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1198A>T; p.T400S; 17:47980713-47980713	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.72G>T; p.R24S; 17:47973538-47973538	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.402C>T; p.A134A; 17:47975226-47975226	skin	malignant_melanoma	Substitution - coding silent
c.455C>A; p.A152E; 17:47975279-47975279	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.861C>A; p.A287A; 17:47976774-47976774	liver	carcinoma	Substitution - coding silent
c.861C>A; p.A287A; 17:47976774-47976774	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1138G>T; p.V380L; 17:47980653-47980653	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138G>T; p.V380L; 17:47980653-47980653	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1174G>T; p.G392C; 17:47980689-47980689	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.836A>C; p.E279A; 17:47976749-47976749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.375G>T; p.E125D; 17:47975199-47975199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.571G>T; p.A191S; 17:47975571-47975571	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.260G>A; p.G87D; 17:47974006-47974006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1132C>T; p.L378L; 17:47980647-47980647	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1347G>A; p.L449L; 17:47981226-47981226	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1510A>G; p.T504A; 17:47981491-47981491	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.618C>T; p.D206D; 17:47975618-47975618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.466G>T; p.E156*; 17:47975290-47975290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1086C>T; p.I362I; 17:47980601-47980601	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation