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	55259
Symbol	CASC1
Synonymous	LAS1\|PPP1R54
Full name	cancer susceptibility candidate 1
Gene description	cancer susceptibility candidate gene 1 protein\|cancer susceptibility candidate protein 1\|lung adenoma susceptibility 1-like protein\|protein CASC1\|protein phosphatase 1, regulatory subunit 54
Cytoband	12p12.1
Gene type	protein-coding
Synonymous	HGNC:HGNC:29599; Ensembl:ENSG00000118307; HPRD:16684; Vega:OTTHUMG00000150195

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1761G>T; p.K587N; 12:25111772-25111772	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.858G>T; p.K286N; 12:25144491-25144491	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.187G>T; p.E63*; 12:25155406-25155406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.838C>T; p.L280F; 12:25144511-25144511	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.102G>A; p.L34L; 12:25158550-25158550	skin	malignant_melanoma	Substitution - coding silent
c.166C>A; p.R56R; 12:25158486-25158486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1227C>G; p.L409L; 12:25119296-25119296	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.150G>A; p.E50E; 12:25158502-25158502	skin	malignant_melanoma	Substitution - coding silent
c.889G>A; p.E297K; 12:25144460-25144460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1866C>T; p.V622V; 12:25110136-25110136	skin	malignant_melanoma	Substitution - coding silent
c.194G>A; p.R65K; 12:25155399-25155399	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.713A>G; p.E238G; 12:25144636-25144636	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1213A>G; p.I405V; 12:25121761-25121761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.751C>G; p.R251G; 12:25144598-25144598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2084C>T; p.S695F; 12:25108615-25108615	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1209G>A; p.W403*; 12:25121765-25121765	breast	carcinoma	Substitution - Nonsense
c.613G>T; p.V205F; 12:25147059-25147059	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1765C>T; p.P589S; 12:25110237-25110237	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1894G>A; p.E632K; 12:25108805-25108805	skin	malignant_melanoma	Substitution - Missense
c.181G>A; p.D61N; 12:25155412-25155412	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.637C>T; p.L213L; 12:25147035-25147035	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.707G>A; p.G236E; 12:25144642-25144642	skin	malignant_melanoma	Substitution - Missense
c.672-5A>C; p.?; 12:25144682-25144682	ovary	other; neoplasm	Unknown
c.30C>G; p.T10T; 12:25161171-25161171	breast	carcinoma	Substitution - coding silent
c.1607T>C; p.M536T; 12:25111926-25111926	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.454A>C; p.T152P; 12:25149741-25149741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>T; p.E272*; 12:25144535-25144535	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.814G>T; p.E272*; 12:25144535-25144535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.814G>T; p.E272*; 12:25144535-25144535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.814G>T; p.E272*; 12:25144535-25144535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.89-9G>A; p.?; 12:25158572-25158572	liver	carcinoma	Unknown
c.1285G>A; p.E429K; 12:25119238-25119238	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673C>A; p.H225N; 12:25144676-25144676	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1446C>T; p.F482F; 12:25114803-25114803	skin	malignant_melanoma	Substitution - coding silent
c.1876-3_1876-2ins19; p.?; 12:25108825-25108826	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.216T>G; p.L72L; 12:25155377-25155377	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1502C>T; p.P501L; 12:25114747-25114747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1646C>T; p.S549F; 12:25111887-25111887	liver	carcinoma	Substitution - Missense
c.1646C>T; p.S549F; 12:25111887-25111887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646C>T; p.S549F; 12:25111887-25111887	liver	carcinoma	Substitution - Missense
c.714G>T; p.E238D; 12:25144635-25144635	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1705G>A; p.G569R; 12:25111828-25111828	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1223T>C; p.I408T; 12:25119300-25119300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1635G>T; p.K545N; 12:25111898-25111898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.254T>C; p.L85S; 12:25155339-25155339	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2002G>A; p.E668K; 12:25108697-25108697	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2148C>A; p.S716S; 12:25108551-25108551	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1593+2T>A; p.?; 12:25114654-25114654	prostate	carcinoma	Unknown
c.1952A>G; p.Q651R; 12:25108747-25108747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1790G>A; p.R597Q; 12:25110212-25110212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.32A>C; p.K11T; 12:25161169-25161169	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.910G>T; p.E304*; 12:25144439-25144439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.82G>C; p.E28Q; 12:25161119-25161119	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1692T>A; p.A564A; 12:25111841-25111841	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1038A>T; p.V346V; 12:25123233-25123233	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1988C>A; p.S663Y; 12:25108711-25108711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1716C>T; p.I572I; 12:25111817-25111817	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.87A>T; p.E29D; 12:25161114-25161114	bone	osteosarcoma	Substitution - Missense
c.1195C>A; p.P399T; 12:25121779-25121779	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.278C>T; p.S93F; 12:25155315-25155315	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.115G>T; p.E39*; 12:25158537-25158537	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.751C>T; p.R251*; 12:25144598-25144598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.143G>A; p.R48Q; 12:25158509-25158509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.143G>A; p.R48Q; 12:25158509-25158509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.143G>A; p.R48Q; 12:25158509-25158509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67_69delGAG; p.E23delE; 12:25161132-25161134	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.143G>A; p.R48Q; 12:25158509-25158509	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.E21K; 12:25161140-25161140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1333G>T; p.V445L; 12:25119190-25119190	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.780T>C; p.V260V; 12:25144569-25144569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.690C>A; p.F230L; 12:25144659-25144659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.314C>A; p.P105H; 12:25154425-25154425	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.677G>T; p.R226I; 12:25144672-25144672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.824C>T; p.S275F; 12:25144525-25144525	breast	carcinoma	Substitution - Missense
c.1732T>A; p.S578T; 12:25111801-25111801	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1695G>T; p.L565F; 12:25111838-25111838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.525_526CC>TT; p.L176F; 12:25149669-25149670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1502C>G; p.P501R; 12:25114747-25114747	prostate	carcinoma	Substitution - Missense
c.1080G>T; p.E360D; 12:25121894-25121894	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1483G>A; p.D495N; 12:25114766-25114766	skin	malignant_melanoma	Substitution - Missense
c.1280A>G; p.E427G; 12:25119243-25119243	central_nervous_system; brain	glioma	Substitution - Missense
c.570A>T; p.Q190H; 12:25147102-25147102	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1407C>A; p.S469R; 12:25114842-25114842	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1322T>C; p.V441A; 12:25119201-25119201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.98G>A; p.R33H; 12:25158554-25158554	pancreas	carcinoma	Substitution - Missense
c.516G>A; p.L172L; 12:25149679-25149679	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.847G>T; p.D283Y; 12:25144502-25144502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1016A>C; p.K339T; 12:25123255-25123255	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1387T>C; p.W463R; 12:25114862-25114862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.18A>T; p.K6N; 12:25161183-25161183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1745T>G; p.V582G; 12:25111788-25111788	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.888C>T; p.V296V; 12:25144461-25144461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.888C>T; p.V296V; 12:25144461-25144461	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.752G>A; p.R251Q; 12:25144597-25144597	skin	malignant_melanoma	Substitution - Missense
c.1404C>T; p.I468I; 12:25114845-25114845	skin	malignant_melanoma	Substitution - coding silent
c.167G>A; p.R56Q; 12:25158485-25158485	breast	carcinoma	Substitution - Missense
c.875T>C; p.I292T; 12:25144474-25144474	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1798G>A; p.A600T; 12:25110204-25110204	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1672C>T; p.P558S; 12:25111861-25111861	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1809T>C; p.S603S; 12:25110193-25110193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1807A>C; p.S603R; 12:25110195-25110195	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1924C>T; p.L642F; 12:25108775-25108775	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1924C>T; p.L642F; 12:25108775-25108775	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.791A>G; p.H264R; 12:25144558-25144558	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.653A>G; p.N218S; 12:25147019-25147019	skin	malignant_melanoma	Substitution - Missense
c.97C>A; p.R33S; 12:25158555-25158555	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.97C>A; p.R33S; 12:25158555-25158555	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.97C>A; p.R33S; 12:25158555-25158555	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2024C>G; p.T675S; 12:25108675-25108675	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1745_1747delTTA; p.I584delI; 12:25111786-25111788	lung	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.568-1G>T; p.?; 12:25147105-25147105	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1415C>T; p.S472F; 12:25114834-25114834	skin	malignant_melanoma	Substitution - Missense
c.345G>A; p.T115T; 12:25154394-25154394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.398A>G; p.E133G; 12:25154341-25154341	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.790C>T; p.H264Y; 12:25144559-25144559	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.790C>T; p.H264Y; 12:25144559-25144559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.141G>A; p.Q47Q; 12:25158511-25158511	skin	malignant_melanoma	Substitution - coding silent
c.1388G>A; p.W463*; 12:25114861-25114861	skin	malignant_melanoma	Substitution - Nonsense
c.419A>C; p.N140T; 12:25154320-25154320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.419A>G; p.N140S; 12:25154320-25154320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1911T>G; p.N637K; 12:25108788-25108788	ovary	other; neoplasm	Substitution - Missense
c.89A>G; p.E30G; 12:25158563-25158563	breast	carcinoma	Substitution - Missense
c.1950A>G; p.A650A; 12:25108749-25108749	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.774T>C; p.D258D; 12:25144575-25144575	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.35C>T; p.A12V; 12:25161166-25161166	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2054C>G; p.S685C; 12:25108645-25108645	pancreas	carcinoma	Substitution - Missense
c.1960A>C; p.K654Q; 12:25108739-25108739	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.41G>C; p.R14P; 12:25161160-25161160	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.41G>C; p.R14P; 12:25161160-25161160	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.532C>G; p.L178V; 12:25149663-25149663	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1923C>T; p.A641A; 12:25108776-25108776	skin	malignant_melanoma	Substitution - coding silent
c.1045G>A; p.E349K; 12:25123226-25123226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.101T>C; p.L34S; 12:25158551-25158551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1711A>C; p.N571H; 12:25111822-25111822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1401C>T; p.G467G; 12:25114848-25114848	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.714G>A; p.E238E; 12:25144635-25144635	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1260G>T; p.P420P; 12:25119263-25119263	oesophagus	carcinoma	Substitution - coding silent
c.371C>A; p.T124K; 12:25154368-25154368	breast	carcinoma	Substitution - Missense
c.37G>A; p.E13K; 12:25161164-25161164	skin	malignant_melanoma	Substitution - Missense
c.402G>A; p.K134K; 12:25154337-25154337	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1908G>T; p.E636D; 12:25108791-25108791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712G>T; p.E238*; 12:25144637-25144637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.211G>T; p.E71*; 12:25155382-25155382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.712G>T; p.E238*; 12:25144637-25144637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.632T>C; p.V211A; 12:25147040-25147040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1876-3_1876-2ins18; p.?; 12:25108825-25108826	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1876-3_1876-2ins18; p.?; 12:25108825-25108826	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.202G>A; p.E68K; 12:25155391-25155391	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>A; p.E332K; 12:25123277-25123277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1867G>A; p.V623I; 12:25110135-25110135	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1392A>C; p.R464S; 12:25114857-25114857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>G; p.Q190E; 12:25147104-25147104	ovary	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation