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	5307
Symbol	PITX1
Synonymous	BFT\|CCF\|LBNBG\|POTX\|PTX1
Full name	paired-like homeodomain 1
Gene description	hindlimb expressed homeobox protein backfoot\|hindlimb-expressed homeobox protein backfoot\|homeobox protein PITX1\|paired-like homeodomain transcription factor 1\|pituitary homeo box 1\|pituitary homeobox 1\|pituitary otx-related factor
Cytoband	5q31.1
Gene type	protein-coding
Synonymous	MIM:602149; HGNC:HGNC:9004; Ensembl:ENSG00000069011; HPRD:03688; Vega:OTTHUMG00000149983

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.125C>A; p.P42Q; 5:135033757-135033757	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.439C>A; p.R147S; 5:135029285-135029285	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445C>T; p.R149C; 5:135029279-135029279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.P193S; 5:135029147-135029147	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.P193S; 5:135029147-135029147	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.P193S; 5:135029147-135029147	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.370G>C; p.V124L; 5:135031308-135031308	pancreas	carcinoma	Substitution - Missense
c.745A>G; p.T249A; 5:135028979-135028979	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.198G>A; p.G66G; 5:135031480-135031480	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.896G>C; p.G299A; 5:135028828-135028828	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.896G>C; p.G299A; 5:135028828-135028828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925G>A; p.A309T; 5:135028799-135028799	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.124C>G; p.P42A; 5:135033758-135033758	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.801C>T; p.P267P; 5:135028923-135028923	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.529G>T; p.A177S; 5:135029195-135029195	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.651C>G; p.P217P; 5:135029073-135029073	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.94C>T; p.H32Y; 5:135033788-135033788	liver	carcinoma	Substitution - Missense
c.94C>T; p.H32Y; 5:135033788-135033788	liver	carcinoma	Substitution - Missense
c.439C>T; p.R147C; 5:135029285-135029285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.706G>A; p.G236S; 5:135029018-135029018	breast	carcinoma	Substitution - Missense
c.439C>T; p.R147C; 5:135029285-135029285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>T; p.A185A; 5:135029169-135029169	central_nervous_system; brain	glioma	Substitution - coding silent
c.513C>A; p.Y171*; 5:135029211-135029211	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.422G>A; p.R141Q; 5:135029302-135029302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>T; p.S228I; 5:135029041-135029041	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.531C>T; p.A177A; 5:135029193-135029193	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.184G>T; p.G62W; 5:135031494-135031494	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.571C>A; p.P191T; 5:135029153-135029153	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.806C>G; p.S269W; 5:135028918-135028918	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.180C>T; p.R60R; 5:135031498-135031498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.905G>A; p.G302D; 5:135028819-135028819	skin	malignant_melanoma	Substitution - Missense
c.461A>G; p.D154G; 5:135029263-135029263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.449A>G; p.N150S; 5:135029275-135029275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.856C>A; p.R286R; 5:135028868-135028868	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.781G>T; p.A261S; 5:135028943-135028943	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.526G>A; p.A176T; 5:135029198-135029198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.442G>C; p.E148Q; 5:135029282-135029282	parathyroid	carcinoma	Substitution - Missense
c.774G>A; p.S258S; 5:135028950-135028950	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.782C>T; p.A261V; 5:135028942-135028942	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.557C>T; p.A186V; 5:135029167-135029167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.A233T; 5:135029027-135029027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.278G>A; p.R93H; 5:135031400-135031400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.R93H; 5:135031400-135031400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.764C>T; p.S255L; 5:135028960-135028960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.465delG; p.C156fs*12; 5:135029259-135029259	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.676C>A; p.P226T; 5:135029048-135029048	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.687G>A; p.M229I; 5:135029037-135029037	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.495C>T; p.S165S; 5:135029229-135029229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.817G>A; p.V273I; 5:135028907-135028907	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>A; p.V273I; 5:135028907-135028907	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>A; p.V273I; 5:135028907-135028907	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.817G>A; p.V273I; 5:135028907-135028907	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.882G>A; p.S294S; 5:135028842-135028842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.464T>C; p.L155P; 5:135029260-135029260	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>A; p.R140R; 5:135029306-135029306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.219A>G; p.G73G; 5:135031459-135031459	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.611C>T; p.S204F; 5:135029113-135029113	skin	malignant_melanoma	Substitution - Missense
c.720G>A; p.S240S; 5:135029004-135029004	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.626C>T; p.S209L; 5:135029098-135029098	skin	malignant_melanoma	Substitution - Missense
c.823C>A; p.R275R; 5:135028901-135028901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.372G>A; p.V124V; 5:135031306-135031306	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation