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	771
Symbol	CA12
Synonymous	CAXII\|HsT18816
Full name	carbonic anhydrase XII
Gene description	CA-XII\|carbonate dehydratase XII\|carbonic anhydrase 12\|carbonic dehydratase\|tumor antigen HOM-RCC-3.1.3
Cytoband	15q22
Gene type	protein-coding
Synonymous	MIM:603263; HGNC:HGNC:1371; HPRD:04464

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.671C>T; p.S224F; 15:63340364-63340364	NS	malignant_melanoma	Substitution - Missense
c.646G>A; p.A216T; 15:63340389-63340389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853G>A; p.V285I; 15:63338840-63338840	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.126C>T; p.S42S; 15:63346690-63346690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.841G>A; p.D281N; 15:63338852-63338852	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.A297V; 15:63328115-63328115	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.820T>G; p.F274V; 15:63338873-63338873	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.132C>T; p.S44S; 15:63346684-63346684	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1059C>T; p.H353H; 15:63326291-63326291	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1041G>A; p.K347K; 15:63326309-63326309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.97A>G; p.T33A; 15:63375667-63375667	liver	carcinoma	Substitution - Missense
c.97A>G; p.T33A; 15:63375667-63375667	liver	carcinoma	Substitution - Missense
c.570T>G; p.L190L; 15:63340739-63340739	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.28G>A; p.A10T; 15:63381693-63381693	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.659G>A; p.R220H; 15:63340376-63340376	breast	carcinoma	Substitution - Missense
c.719G>A; p.R240Q; 15:63340316-63340316	pancreas	carcinoma	Substitution - Missense
c.927C>T; p.A309A; 15:63327214-63327214	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.852G>T; p.L284L; 15:63338841-63338841	liver	carcinoma	Substitution - coding silent
c.852G>T; p.L284L; 15:63338841-63338841	liver	carcinoma	Substitution - coding silent
c.169C>T; p.P57S; 15:63346647-63346647	skin	malignant_melanoma	Substitution - Missense
c.421G>A; p.A141T; 15:63345485-63345485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.604G>A; p.V202I; 15:63340431-63340431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.694C>A; p.P232T; 15:63340341-63340341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.609G>A; p.P203P; 15:63340426-63340426	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.420C>T; p.F140F; 15:63345486-63345486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.420C>T; p.F140F; 15:63345486-63345486	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.912C>T; p.I304I; 15:63327229-63327229	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.615C>T; p.F205F; 15:63340420-63340420	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.956_957delTG; p.V319fs*17; 15:63327184-63327185	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - Frameshift
c.945C>T; p.G315G; 15:63327196-63327196	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.668G>T; p.G223V; 15:63340367-63340367	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.981C>T; p.F327F; 15:63327160-63327160	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.410G>A; p.G137E; 15:63345496-63345496	skin	malignant_melanoma	Substitution - Missense
c.403G>A; p.V135I; 15:63345503-63345503	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.559T>C; p.F187L; 15:63340750-63340750	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1060G>A; p.A354T; 15:63326290-63326290	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.991A>G; p.S331G; 15:63327150-63327150	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.213C>T; p.L71L; 15:63346603-63346603	breast	carcinoma	Substitution - coding silent
c.1016G>A; p.G339E; 15:63326334-63326334	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.645C>G; p.T215T; 15:63340390-63340390	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.347C>T; p.T116M; 15:63345559-63345559	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.491C>T; p.S164L; 15:63342036-63342036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.672C>A; p.S224S; 15:63340363-63340363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.72G>A; p.P24P; 15:63381649-63381649	ovary	other; neoplasm	Substitution - coding silent
c.769C>A; p.L257M; 15:63338924-63338924	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.769C>A; p.L257M; 15:63338924-63338924	large_intestine; colon	carcinoma	Substitution - Missense
c.335G>A; p.R112H; 15:63345571-63345571	urinary_tract; bladder	carcinoma	Substitution - Missense
c.769C>A; p.L257M; 15:63338924-63338924	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.777C>T; p.C259C; 15:63338916-63338916	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.805G>T; p.E269*; 15:63338888-63338888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.358C>A; p.L120M; 15:63345548-63345548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.543G>A; p.P181P; 15:63340766-63340766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.875-2A>G; p.?; 15:63328132-63328132	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.641G>A; p.R214K; 15:63340394-63340394	skin	malignant_melanoma	Substitution - Missense
c.392C>T; p.S131F; 15:63345514-63345514	central_nervous_system; brain	glioma	Substitution - Missense
c.665G>A; p.R222Q; 15:63340370-63340370	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.449A>C; p.N150T; 15:63342078-63342078	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.767C>T; p.A256V; 15:63338926-63338926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.65C>T; p.S22F; 15:63381656-63381656	breast	carcinoma	Substitution - Missense
c.485A>G; p.N162S; 15:63342042-63342042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.664C>A; p.R222R; 15:63340371-63340371	bone; femur	other; chondroblastoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation