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	8644
Symbol	AKR1C3
Synonymous	DD3\|DDX\|HA1753\|HAKRB\|HAKRe\|HSD17B5\|PGFS\|hluPGFS
Full name	aldo-keto reductase family 1, member C3
Gene description	3-alpha hydroxysteroid dehydrogenase, type II\|3-alpha-HSD type II, brain\|aldo-keto reductase family 1 member C3\|aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)\|chlordecone reductase homolog HAKRb\|dihydrodiol dehydro
Cytoband	10p15-p14
Gene type	protein-coding
Synonymous	MIM:603966; HGNC:HGNC:386; Ensembl:ENSG00000196139; HPRD:04911

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.175G>A; p.E59K; 10:5096500-5096500	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.548A>G; p.K183R; 10:5099427-5099427	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.680G>T; p.W227L; 10:5102210-5102210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.465G>A; p.K155K; 10:5099344-5099344	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.196C>T; p.R66*; 10:5096521-5096521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.346A>T; p.I116F; 10:5097527-5097527	skin	malignant_melanoma	Substitution - Missense
c.920_921delAC; p.N307fs*2; 10:5105668-5105669	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.378G>T; p.E126D; 10:5098810-5098810	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>A; p.E58K; 10:5096497-5096497	skin	malignant_melanoma	Substitution - Missense
c.879G>T; p.M293I; 10:5105627-5105627	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.298G>A; p.E100K; 10:5097479-5097479	skin	malignant_melanoma	Substitution - Missense
c.272G>A; p.R91Q; 10:5097453-5097453	skin	malignant_melanoma	Substitution - Missense
c.624G>A; p.S208S; 10:5102154-5102154	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.624G>A; p.S208S; 10:5102154-5102154	skin	malignant_melanoma	Substitution - coding silent
c.624G>A; p.S208S; 10:5102154-5102154	skin	malignant_melanoma	Substitution - coding silent
c.32A>C; p.N11T; 10:5094476-5094476	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>T; p.R223*; 10:5102197-5102197	central_nervous_system; brain	glioma	Substitution - Nonsense
c.271C>T; p.R91*; 10:5097452-5097452	skin	malignant_melanoma	Substitution - Nonsense
c.461G>T; p.C154F; 10:5099340-5099340	breast	carcinoma	Substitution - Missense
c.969T>G; p.Y323*; 10:5107500-5107500	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.964G>A; p.E322K; 10:5107495-5107495	skin	malignant_melanoma	Substitution - Missense
c.827G>A; p.R276H; 10:5102631-5102631	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.827G>A; p.R276H; 10:5102631-5102631	stomach	adenocarcinoma	Substitution - Missense
c.88C>T; p.P30S; 10:5096413-5096413	skin	malignant_melanoma	Substitution - Missense
c.331G>C; p.V111L; 10:5097512-5097512	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.456G>A; p.E152E; 10:5099335-5099335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.959C>T; p.S320L; 10:5107490-5107490	skin	malignant_melanoma	Substitution - Missense
c.15C>G; p.H5Q; 10:5094459-5094459	thyroid	other; neoplasm	Substitution - Missense
c.139C>T; p.R47C; 10:5096464-5096464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.871G>A; p.E291K; 10:5105619-5105619	skin	malignant_melanoma	Substitution - Missense
c.873G>C; p.E291D; 10:5105621-5105621	skin	malignant_melanoma	Substitution - Missense
c.316G>A; p.A106T; 10:5097497-5097497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>A; p.E152K; 10:5099333-5099333	skin	malignant_melanoma	Substitution - Missense
c.664C>T; p.Q222*; 10:5102194-5102194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.690G>A; p.P230P; 10:5102494-5102494	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.898G>T; p.D300Y; 10:5105646-5105646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.910C>T; p.H304Y; 10:5105658-5105658	skin	malignant_melanoma	Substitution - Missense
c.45C>G; p.F15L; 10:5094489-5094489	breast	carcinoma	Substitution - Missense
c.45C>G; p.F15L; 10:5094489-5094489	breast	carcinoma	Substitution - Missense
c.90G>A; p.P30P; 10:5096415-5096415	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.583C>T; p.P195S; 10:5102113-5102113	skin	malignant_melanoma	Substitution - Missense
c.676C>T; p.R226*; 10:5102206-5102206	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.512G>T; p.R171M; 10:5099391-5099391	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.508C>T; p.R170C; 10:5099387-5099387	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.260C>G; p.S87C; 10:5097441-5097441	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.509G>T; p.R170L; 10:5099388-5099388	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.513G>T; p.R171S; 10:5099392-5099392	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.462T>G; p.C154W; 10:5099341-5099341	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.943C>T; p.P315S; 10:5107474-5107474	skin	malignant_melanoma	Substitution - Missense
c.462T>G; p.C154W; 10:5099341-5099341	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.185G>A; p.G62E; 10:5096510-5096510	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.185G>A; p.G62E; 10:5096510-5096510	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.378G>A; p.E126E; 10:5098810-5098810	skin	malignant_melanoma	Substitution - coding silent
c.806C>G; p.A269G; 10:5102610-5102610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.245C>A; p.T82N; 10:5096570-5096570	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.197G>A; p.R66Q; 10:5096522-5096522	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.449C>T; p.A150V; 10:5099328-5099328	skin	malignant_melanoma	Substitution - Missense
c.451A>G; p.M151V; 10:5099330-5099330	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.951T>C; p.Y317Y; 10:5107482-5107482	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation