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	1645
Symbol	AKR1C1
Synonymous	2-ALPHA-HSD\|20-ALPHA-HSD\|C9\|DD1\|DD1/DD2\|DDH\|DDH1\|H-37\|HAKRC\|HBAB\|MBAB
Full name	aldo-keto reductase family 1, member C1
Gene description	20 alpha-hydroxysteroid dehydrogenase\|20-alpha-hydroxysteroid dehydrogenase\|aldo-keto reductase C\|aldo-keto reductase family 1 member C1\|chlordecone reductase homolog HAKRC\|dihydrodiol dehydrogenase 1\|dihydrodiol dehydrogenase 1/2\|dihydrodiol dehydrogenas
Cytoband	10p15-p14
Gene type	protein-coding
Synonymous	MIM:600449; HGNC:HGNC:384; HPRD:07194

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.451G>A; p.V151M; 10:4968825-4968825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.V151M; 10:4968825-4968825	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.791G>T; p.G264V; 10:4972694-4972694	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.791G>T; p.G264V; 10:4972694-4972694	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.749G>A; p.R250Q; 10:4972652-4972652	skin	malignant_melanoma	Substitution - Missense
c.749G>A; p.R250Q; 10:4972652-4972652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.85-1G>T; p.?; 10:4965913-4965913	breast	carcinoma	Unknown
c.666C>T; p.H222H; 10:4972296-4972296	thyroid	other; neoplasm	Substitution - coding silent
c.130G>A; p.A44T; 10:4965959-4965959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.504C>T; p.F168F; 10:4968878-4968878	skin	malignant_melanoma	Substitution - coding silent
c.450C>T; p.A150A; 10:4968824-4968824	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.110C>T; p.A37V; 10:4965939-4965939	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.810G>T; p.K270N; 10:4972713-4972713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.140G>A; p.R47H; 10:4965969-4965969	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.140G>A; p.R47H; 10:4965969-4965969	central_nervous_system; brain	glioma	Substitution - Missense
c.571-7T>G; p.?; 10:4972194-4972194	ovary	other; neoplasm	Unknown
c.769C>T; p.L257L; 10:4972672-4972672	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.88C>T; p.P30S; 10:4965917-4965917	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327T>C; p.D109D; 10:4967001-4967001	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.42C>A; p.H14Q; 10:4963486-4963486	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116A>C; p.K39T; 10:4965945-4965945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.571-9C>T; p.?; 10:4972192-4972192	prostate	carcinoma	Unknown
c.111C>T; p.A37A; 10:4965940-4965940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.111C>T; p.A37A; 10:4965940-4965940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.111C>T; p.A37A; 10:4965940-4965940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.382G>A; p.V128M; 10:4968321-4968321	breast	carcinoma	Substitution - Missense
c.722T>A; p.L241H; 10:4972625-4972625	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.98A>C; p.K33T; 10:4965927-4965927	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.513G>A; p.R171R; 10:4968887-4968887	thyroid	other; neoplasm	Substitution - coding silent
c.466G>T; p.D156Y; 10:4968840-4968840	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.441A>G; p.T147T; 10:4968380-4968380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.441A>G; p.T147T; 10:4968380-4968380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.441A>G; p.T147T; 10:4968380-4968380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.441A>G; p.T147T; 10:4968380-4968380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.441A>G; p.T147T; 10:4968380-4968380	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.441A>G; p.T147T; 10:4968380-4968380	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.171T>C; p.N57N; 10:4966000-4966000	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.342C>T; p.Y114Y; 10:4967016-4967016	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.647A>G; p.Y216C; 10:4972277-4972277	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.655C>T; p.L219L; 10:4972285-4972285	skin	malignant_melanoma	Substitution - coding silent
c.289C>T; p.P97S; 10:4966963-4966963	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.929+7A>G; p.?; 10:4975940-4975940	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.689C>T; p.P230L; 10:4972592-4972592	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.820G>A; p.E274K; 10:4972723-4972723	breast	carcinoma	Substitution - Missense
c.3G>T; p.M1I; 10:4963447-4963447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.545T>G; p.L182R; 10:4968919-4968919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.65G>C; p.G22A; 10:4963509-4963509	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.145A>G; p.I49V; 10:4965974-4965974	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.699G>T; p.P233P; 10:4972602-4972602	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.280T>G; p.L94V; 10:4966954-4966954	skin	malignant_melanoma	Substitution - Missense
c.787C>T; p.R263C; 10:4972690-4972690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.305C>T; p.S102L; 10:4966979-4966979	breast	carcinoma	Substitution - Missense
c.571-2A>G; p.?; 10:4972199-4972199	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.489C>T; p.I163I; 10:4968863-4968863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.566A>T; p.N189I; 10:4968940-4968940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.682G>A; p.V228M; 10:4972585-4972585	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.268C>A; p.H90N; 10:4966942-4966942	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.698C>T; p.P233L; 10:4972601-4972601	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.395A>T; p.D132V; 10:4968334-4968334	breast	carcinoma	Substitution - Missense
c.748C>T; p.R250*; 10:4972651-4972651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.91A>G; p.K31E; 10:4965920-4965920	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.110C>A; p.A37D; 10:4965939-4965939	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.520G>C; p.E174Q; 10:4968894-4968894	breast	carcinoma	Substitution - Missense
c.267C>T; p.S89S; 10:4966941-4966941	ovary	other; neoplasm	Substitution - coding silent
c.267C>T; p.S89S; 10:4966941-4966941	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.267C>T; p.S89S; 10:4966941-4966941	ovary	other; neoplasm	Substitution - coding silent
c.742C>T; p.H248Y; 10:4972645-4972645	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation