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	3855
Symbol	KRT7
Synonymous	CK7\|K2C7\|K7\|SCL
Full name	keratin 7, type II
Gene description	CK-7\|cytokeratin 7\|cytokeratin-7\|keratin, 55K type II cytoskeletal\|keratin, simple epithelial type I, K7\|keratin, type II cytoskeletal 7\|keratin-7\|sarcolectin\|type II mesothelial keratin K7\|type-II keratin Kb7
Cytoband	12q13.13
Gene type	protein-coding
Synonymous	MIM:148059; HGNC:HGNC:6445; Ensembl:ENSG00000135480; HPRD:01014; Vega:OTTHUMG00000169580

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.451C>T; p.Q151*; 12:52235281-52235281	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1081C>A; p.L361M; 12:52245508-52245508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.798G>A; p.A266A; 12:52241576-52241576	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.805G>A; p.E269K; 12:52241583-52241583	skin	malignant_melanoma	Substitution - Missense
c.528C>A; p.F176L; 12:52235358-52235358	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.675C>A; p.L225L; 12:52238757-52238757	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1247T>C; p.M416T; 12:52248597-52248597	liver	carcinoma	Substitution - Missense
c.329G>A; p.R110Q; 12:52235159-52235159	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1247T>C; p.M416T; 12:52248597-52248597	liver	carcinoma	Substitution - Missense
c.405C>T; p.S135S; 12:52235235-52235235	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014G>T; p.E338D; 12:52245441-52245441	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.486G>A; p.L162L; 12:52235316-52235316	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.486G>A; p.L162L; 12:52235316-52235316	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.182C>T; p.A61V; 12:52233478-52233478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1362T>G; p.A454A; 12:52248712-52248712	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.915G>A; p.R305R; 12:52243068-52243068	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.699G>A; p.L233L; 12:52241477-52241477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.598G>T; p.D200Y; 12:52238680-52238680	oesophagus	carcinoma	Substitution - Missense
c.1117C>T; p.R373C; 12:52245544-52245544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.481C>T; p.R161C; 12:52235311-52235311	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.858+1G>A; p.?; 12:52241637-52241637	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1030G>A; p.E344K; 12:52245457-52245457	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.723C>T; p.S241S; 12:52241501-52241501	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.560G>A; p.R187H; 12:52237532-52237532	breast	carcinoma	Substitution - Missense
c.520G>T; p.E174*; 12:52235350-52235350	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1011C>T; p.A337A; 12:52245438-52245438	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1011C>T; p.A337A; 12:52245438-52245438	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.898G>A; p.D300N; 12:52243051-52243051	skin	malignant_melanoma	Substitution - Missense
c.986G>T; p.R329L; 12:52245413-52245413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>C; p.E212Q; 12:52238716-52238716	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1077C>T; p.A359A; 12:52245504-52245504	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1371C>A; p.I457I; 12:52248721-52248721	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1371C>A; p.I457I; 12:52248721-52248721	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.661G>A; p.E221K; 12:52238743-52238743	skin	malignant_melanoma	Substitution - Missense
c.135A>G; p.S45S; 12:52233431-52233431	thyroid	other; neoplasm	Substitution - coding silent
c.135A>G; p.S45S; 12:52233431-52233431	thyroid	other; neoplasm	Substitution - coding silent
c.952C>A; p.L318M; 12:52243105-52243105	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.135A>G; p.S45S; 12:52233431-52233431	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1076C>T; p.A359V; 12:52245503-52245503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.905G>A; p.R302Q; 12:52243058-52243058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.961G>C; p.E321Q; 12:52243114-52243114	breast	carcinoma	Substitution - Missense
c.1384G>A; p.A462T; 12:52248734-52248734	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1206-1G>A; p.?; 12:52248176-52248176	skin	malignant_melanoma	Unknown
c.285C>G; p.I95M; 12:52233581-52233581	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.129C>T; p.G43G; 12:52233425-52233425	prostate	carcinoma	Substitution - coding silent
c.25G>A; p.V9I; 12:52233321-52233321	liver	carcinoma	Substitution - Missense
c.25G>A; p.V9I; 12:52233321-52233321	liver	carcinoma	Substitution - Missense
c.849C>T; p.Y283Y; 12:52241627-52241627	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.53C>T; p.S18L; 12:52233349-52233349	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445C>T; p.R149W; 12:52235275-52235275	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.921G>T; p.E307D; 12:52243074-52243074	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>A; p.E377K; 12:52245556-52245556	skin	malignant_melanoma	Substitution - Missense
c.692C>T; p.T231M; 12:52238774-52238774	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1193G>A; p.G398D; 12:52245620-52245620	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.800A>G; p.Q267R; 12:52241578-52241578	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1081C>G; p.L361V; 12:52245508-52245508	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.37C>A; p.R13S; 12:52233333-52233333	prostate	carcinoma	Substitution - Missense
c.1037C>T; p.A346V; 12:52245464-52245464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1078G>A; p.A360T; 12:52245505-52245505	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1346C>T; p.P449L; 12:52248696-52248696	skin	malignant_melanoma	Substitution - Missense
c.826C>T; p.R276W; 12:52241604-52241604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.914G>A; p.R305Q; 12:52243067-52243067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.914G>A; p.R305Q; 12:52243067-52243067	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.966C>T; p.I322I; 12:52243119-52243119	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.870C>T; p.L290L; 12:52243023-52243023	skin	malignant_melanoma	Substitution - coding silent
c.1390C>T; p.R464C; 12:52248740-52248740	skin	malignant_melanoma	Substitution - Missense
c.1038G>A; p.A346A; 12:52245465-52245465	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1151C>T; p.A384V; 12:52245578-52245578	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.702A>T; p.T234T; 12:52241480-52241480	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.248C>G; p.S83C; 12:52233544-52233544	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1168G>A; p.A390T; 12:52245595-52245595	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.30C>T; p.F10F; 12:52233326-52233326	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.30C>T; p.F10F; 12:52233326-52233326	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1168G>A; p.A390T; 12:52245595-52245595	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1377C>T; p.T459T; 12:52248727-52248727	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.702_703delAG; p.E235fs*28; 12:52241480-52241481	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1278_1279TG>AA; p.G426>?; 12:52248628-52248629	large_intestine; rectum	carcinoma; adenocarcinoma	Complex
c.311C>G; p.S104C; 12:52233607-52233607	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.D469N; 12:52248755-52248755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>A; p.D469N; 12:52248755-52248755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.G21S; 12:52233357-52233357	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.237C>T; p.D79D; 12:52233533-52233533	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.54G>A; p.S18S; 12:52233350-52233350	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.270G>A; p.E90E; 12:52233566-52233566	skin	malignant_melanoma	Substitution - coding silent
c.1296_1297insG; p.T435fs*>36; 12:52248646-52248647	skin	malignant_melanoma	Insertion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation