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	4254
Symbol	KITLG
Synonymous	FPH2\|FPHH\|KL-1\|Kitl\|MGF\|SCF\|SF\|SHEP7
Full name	KIT ligand
Gene description	c-Kit ligand\|familial progressive hyperpigmentation 2\|kit ligand\|mast cell growth factor\|steel factor\|stem cell factor
Cytoband	12q22
Gene type	protein-coding
Synonymous	MIM:184745; HGNC:HGNC:6343; HPRD:01698

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.197G>A; p.S66N; 12:88518863-88518863	skin	malignant_melanoma	Substitution - Missense
c.615A>C; p.K205N; 12:88507127-88507127	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.704T>C; p.L235S; 12:88507038-88507038	skin	malignant_melanoma	Substitution - Missense
c.698G>C; p.G233A; 12:88507044-88507044	urinary_tract; bladder	carcinoma	Substitution - Missense
c.175C>T; p.P59S; 12:88532458-88532458	skin	malignant_melanoma	Substitution - Missense
c.118G>T; p.V40F; 12:88545763-88545763	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>A; p.G94G; 12:88518778-88518778	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.174C>T; p.V58V; 12:88532459-88532459	skin	malignant_melanoma	Substitution - coding silent
c.806_807delAG; p.E269fs*>5; 12:88505211-88505212	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.80G>A; p.G27E; 12:88545801-88545801	skin	malignant_melanoma	Substitution - Missense
c.339G>A; p.E113E; 12:88518721-88518721	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.584A>G; p.N195S; 12:88515554-88515554	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.117C>T; p.D39D; 12:88545764-88545764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.398G>T; p.R133M; 12:88516456-88516456	liver	carcinoma	Substitution - Missense
c.375delA; p.K125fs*31; 12:88516479-88516479	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.384G>T; p.K128N; 12:88516470-88516470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.25C>T; p.L9F; 12:88545856-88545856	breast	carcinoma	Substitution - Missense
c.115G>A; p.D39N; 12:88545766-88545766	skin	malignant_melanoma	Substitution - Missense
c.500C>T; p.S167L; 12:88516354-88516354	skin	malignant_melanoma	Substitution - Missense
c.62C>A; p.P21H; 12:88545819-88545819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.605-2A>G; p.?; 12:88507139-88507139	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.77A>G; p.E26G; 12:88545804-88545804	breast	carcinoma	Substitution - Missense
c.342C>G; p.C114W; 12:88518718-88518718	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.160A>G; p.T54A; 12:88532473-88532473	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.160A>G; p.T54A; 12:88532473-88532473	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.300C>T; p.I100I; 12:88518760-88518760	skin	malignant_melanoma	Substitution - coding silent
c.803G>A; p.R268K; 12:88505215-88505215	skin	malignant_melanoma	Substitution - Missense
c.657A>T; p.A219A; 12:88507085-88507085	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.412G>A; p.E138K; 12:88516442-88516442	skin	malignant_melanoma	Substitution - Missense
c.511C>T; p.P171S; 12:88516343-88516343	breast	carcinoma	Substitution - Missense
c.380T>C; p.F127S; 12:88516474-88516474	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.118G>A; p.V40I; 12:88545763-88545763	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.90G>T; p.R30S; 12:88545791-88545791	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.287_288GT>TC; p.S96I; 12:88518772-88518773	urinary_tract; bladder	carcinoma	Substitution - Missense
c.115G>T; p.D39Y; 12:88545766-88545766	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.115G>T; p.D39Y; 12:88545766-88545766	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>T; p.S129S; 12:88516467-88516467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.387C>T; p.S129S; 12:88516467-88516467	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.630C>T; p.D210D; 12:88507112-88507112	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.334G>T; p.V112L; 12:88518726-88518726	skin	malignant_melanoma	Substitution - Missense
c.224T>C; p.V75A; 12:88518836-88518836	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.389delC; p.P130fs*26; 12:88516465-88516465	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.311T>C; p.L104P; 12:88518749-88518749	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.311T>C; p.L104P; 12:88518749-88518749	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>A; p.A157T; 12:88516385-88516385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.195A>G; p.P65P; 12:88518865-88518865	skin	malignant_melanoma	Substitution - coding silent
c.521-6A>G; p.?; 12:88515623-88515623	prostate	carcinoma	Unknown
c.444T>C; p.I148I; 12:88516410-88516410	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.793G>C; p.E265Q; 12:88505225-88505225	breast	carcinoma	Substitution - Missense
c.61C>G; p.P21A; 12:88545820-88545820	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.420C>G; p.F140L; 12:88516434-88516434	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.220G>A; p.V74I; 12:88518840-88518840	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.207G>C; p.W69C; 12:88518853-88518853	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.441C>T; p.S147S; 12:88516413-88516413	skin	malignant_melanoma	Substitution - coding silent
c.207G>C; p.W69C; 12:88518853-88518853	urinary_tract; bladder	carcinoma	Substitution - Missense
c.393A>G; p.E131E; 12:88516461-88516461	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.199C>T; p.H67Y; 12:88518861-88518861	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.797A>C; p.K266T; 12:88505221-88505221	skin	malignant_melanoma	Substitution - Missense
c.493G>T; p.V165F; 12:88516361-88516361	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation