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	361
Symbol	AQP4
Synonymous	HMIWC2\|MIWC
Full name	aquaporin 4
Gene description	WCH4\|aquaporin 4 isoform delta4\|aquaporin type4\|aquaporin-4\|mercurial-insensitive water channel
Cytoband	18q11.2-q12.1
Gene type	protein-coding
Synonymous	MIM:600308; HGNC:HGNC:637; Ensembl:ENSG00000171885; HPRD:02631; Vega:OTTHUMG00000131955

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.31G>A; p.G11S; 18:26865659-26865659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.305T>G; p.V102G; 18:26862324-26862324	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700T>A; p.W234R; 18:26856483-26856483	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.903G>A; p.V301V; 18:26856280-26856280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.120G>A; p.A40A; 18:26862509-26862509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.276C>T; p.S92S; 18:26862353-26862353	central_nervous_system; brain	glioma	Substitution - coding silent
c.276C>T; p.S92S; 18:26862353-26862353	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.866C>T; p.T289M; 18:26856317-26856317	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.276C>T; p.S92S; 18:26862353-26862353	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.669C>A; p.I223I; 18:26860796-26860796	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.341A>C; p.K114T; 18:26862288-26862288	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.793G>A; p.A265T; 18:26856390-26856390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.947C>T; p.S316F; 18:26856236-26856236	breast	carcinoma	Substitution - Missense
c.30G>A; p.W10*; 18:26865660-26865660	thyroid	carcinoma	Substitution - Nonsense
c.935G>A; p.G312E; 18:26856248-26856248	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5G>C; p.S2T; 18:26865685-26865685	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.798C>T; p.F266F; 18:26856385-26856385	skin	malignant_melanoma	Substitution - coding silent
c.569C>T; p.A190V; 18:26861174-26861174	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.870T>C; p.D290D; 18:26856313-26856313	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.119C>T; p.A40V; 18:26862510-26862510	pancreas	carcinoma	Substitution - Missense
c.119C>T; p.A40V; 18:26862510-26862510	pancreas	carcinoma	Substitution - Missense
c.119C>T; p.A40V; 18:26862510-26862510	pancreas	carcinoma	Substitution - Missense
c.950G>C; p.G317A; 18:26856233-26856233	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.824G>A; p.G275E; 18:26856359-26856359	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.482T>A; p.L161Q; 18:26861261-26861261	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.200C>T; p.P67L; 18:26862429-26862429	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.375G>A; p.G125G; 18:26862254-26862254	skin	malignant_melanoma	Substitution - coding silent
c.647G>T; p.R216L; 18:26860818-26860818	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.888T>G; p.P296P; 18:26856295-26856295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.472C>T; p.H158Y; 18:26861271-26861271	skin	malignant_melanoma	Substitution - Missense
c.574G>A; p.A192T; 18:26861169-26861169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.323G>T; p.R108M; 18:26862306-26862306	haematopoietic_and_lymphoid_tissue; skin	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.581G>A; p.G194E; 18:26861162-26861162	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.669C>T; p.I223I; 18:26860796-26860796	skin	malignant_melanoma	Substitution - coding silent
c.967G>T; p.V323L; 18:26856216-26856216	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.308C>T; p.A103V; 18:26862321-26862321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.409A>C; p.T137P; 18:26862220-26862220	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.650C>T; p.S217F; 18:26860815-26860815	skin	malignant_melanoma	Substitution - Missense
c.762A>T; p.P254P; 18:26856421-26856421	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.651C>A; p.S217S; 18:26860814-26860814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.552T>A; p.D184E; 18:26861191-26861191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.889G>T; p.G297*; 18:26856294-26856294	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.868G>A; p.D290N; 18:26856315-26856315	skin	malignant_melanoma	Substitution - Missense
c.682G>T; p.E228*; 18:26860783-26860783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.812A>G; p.Q271R; 18:26856371-26856371	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.859G>T; p.V287L; 18:26856324-26856324	pancreas	carcinoma	Substitution - Missense
c.640C>T; p.P214S; 18:26860825-26860825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.781C>T; p.R261C; 18:26856402-26856402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.192G>T; p.K64N; 18:26862437-26862437	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.132C>T; p.A44A; 18:26862497-26862497	skin	malignant_melanoma	Substitution - coding silent
c.544C>T; p.R182W; 18:26861199-26861199	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.848A>G; p.N283S; 18:26856335-26856335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.83G>A; p.G28E; 18:26862546-26862546	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.605T>C; p.L202S; 18:26861138-26861138	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.299T>C; p.V100A; 18:26862330-26862330	liver	carcinoma	Substitution - Missense
c.641C>T; p.P214L; 18:26860824-26860824	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.736G>A; p.G246S; 18:26856447-26856447	skin	malignant_melanoma	Substitution - Missense
c.460C>T; p.L154F; 18:26861283-26861283	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.680G>A; p.W227*; 18:26860785-26860785	skin	malignant_melanoma	Substitution - Nonsense
c.858G>T; p.Q286H; 18:26856325-26856325	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation