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	1594
Symbol	CYP27B1
Synonymous	CP2B\|CYP1\|CYP1alpha\|CYP27B\|P450c1\|PDDR\|VDD1\|VDDR\|VDDRI\|VDR
Full name	cytochrome P450, family 27, subfamily B, polypeptide 1
Gene description	1alpha(OH)ase\|25 hydroxyvitamin D3-1-alpha hydroxylase\|25-OHD-1 alpha-hydroxylase\|25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial\|VD3 1A hydroxylase\|calcidiol 1-monooxygenase\|cytochrome P450 subfamily XXVIIB polypeptide 1\|cytochrome P450C1 alpha\|cy
Cytoband	12q14.1
Gene type	protein-coding
Synonymous	MIM:609506; HGNC:HGNC:2606; Ensembl:ENSG00000111012; HPRD:02031; Vega:OTTHUMG00000170457

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.974C>G; p.T325R; 12:57764540-57764540	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.41G>A; p.R14H; 12:57767001-57767001	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>A; p.E346E; 12:57764476-57764476	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.497T>C; p.V166A; 12:57765389-57765389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>T; p.A357V; 12:57764444-57764444	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1131G>T; p.V377V; 12:57764383-57764383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.690G>A; p.V230V; 12:57765111-57765111	liver	carcinoma	Substitution - coding silent
c.690G>A; p.V230V; 12:57765111-57765111	liver	carcinoma	Substitution - coding silent
c.1370G>C; p.G457A; 12:57763654-57763654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.854A>C; p.K285T; 12:57764863-57764863	skin	malignant_melanoma	Substitution - Missense
c.954A>G; p.G318G; 12:57764763-57764763	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.954A>G; p.G318G; 12:57764763-57764763	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.695C>T; p.T232M; 12:57765106-57765106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.954A>G; p.G318G; 12:57764763-57764763	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1407G>A; p.L469L; 12:57763617-57763617	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1046C>G; p.A349G; 12:57764468-57764468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376G>T; p.R459L; 12:57763648-57763648	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1078T>C; p.S360P; 12:57764436-57764436	breast	carcinoma	Substitution - Missense
c.591C>A; p.G197G; 12:57765210-57765210	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.591C>A; p.G197G; 12:57765210-57765210	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.171delG; p.L58fs*20; 12:57766871-57766871	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.171delG; p.L58fs*20; 12:57766871-57766871	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1376G>A; p.R459H; 12:57763648-57763648	skin	malignant_melanoma	Substitution - Missense
c.742G>T; p.G248W; 12:57765059-57765059	urinary_tract; bladder	carcinoma	Substitution - Missense
c.715C>T; p.P239S; 12:57765086-57765086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1095C>T; p.S365S; 12:57764419-57764419	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.116A>G; p.D39G; 12:57766926-57766926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.823G>A; p.A275T; 12:57764894-57764894	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.823G>A; p.A275T; 12:57764894-57764894	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.464C>T; p.A155V; 12:57765422-57765422	breast	carcinoma	Substitution - Missense
c.1311T>C; p.G437G; 12:57763713-57763713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.814G>A; p.E272K; 12:57764903-57764903	skin	malignant_melanoma	Substitution - Missense
c.1213A>C; p.N405H; 12:57764100-57764100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.38A>G; p.H13R; 12:57767004-57767004	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>T; p.D185D; 12:57765331-57765331	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1245T>C; p.T415T; 12:57763779-57763779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.824C>T; p.A275V; 12:57764893-57764893	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.505C>A; p.L169M; 12:57765381-57765381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>A; p.L169M; 12:57765381-57765381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>A; p.L169M; 12:57765381-57765381	large_intestine; colon	carcinoma	Substitution - Missense
c.505C>A; p.L169M; 12:57765381-57765381	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.528C>A; p.G176G; 12:57765358-57765358	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.754C>A; p.R252S; 12:57765047-57765047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1217C>T; p.T406M; 12:57763807-57763807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1463G>A; p.R488K; 12:57763206-57763206	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1280C>A; p.S427Y; 12:57763744-57763744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.412C>T; p.R138C; 12:57765474-57765474	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.422T>C; p.L141P; 12:57765464-57765464	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.803T>C; p.V268A; 12:57764914-57764914	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1313C>A; p.P438H; 12:57763711-57763711	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1163C>T; p.S388F; 12:57764150-57764150	breast	carcinoma	Substitution - Missense
c.141C>T; p.S47S; 12:57766901-57766901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.496G>A; p.V166M; 12:57765390-57765390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1319C>T; p.P440L; 12:57763705-57763705	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.869G>A; p.G290E; 12:57764848-57764848	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.463G>A; p.A155T; 12:57765423-57765423	pancreas	carcinoma	Substitution - Missense
c.565G>A; p.E189K; 12:57765321-57765321	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1316C>T; p.T439I; 12:57763708-57763708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1115C>T; p.A372V; 12:57764399-57764399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1295G>A; p.R432H; 12:57763729-57763729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.721T>A; p.W241R; 12:57765080-57765080	skin	malignant_melanoma	Substitution - Missense
c.1214A>C; p.N405T; 12:57764099-57764099	urinary_tract; bladder	carcinoma	Substitution - Missense
c.754C>T; p.R252C; 12:57765047-57765047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.754C>T; p.R252C; 12:57765047-57765047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.754C>T; p.R252C; 12:57765047-57765047	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.189G>T; p.E63D; 12:57766853-57766853	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.124G>T; p.G42C; 12:57766918-57766918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1267C>A; p.P423T; 12:57763757-57763757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.782T>G; p.F261C; 12:57765019-57765019	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.210G>A; p.A70A; 12:57766183-57766183	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1321delC; p.H441fs*33; 12:57763703-57763703	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.130T>A; p.S44T; 12:57766912-57766912	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.E338K; 12:57764502-57764502	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1012G>A; p.E338K; 12:57764502-57764502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.E338K; 12:57764502-57764502	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.171_172insG; p.L58fs*275; 12:57766870-57766871	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.631G>T; p.E211*; 12:57765170-57765170	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation