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	1312
Symbol	COMT
Synonymous	HEL-S-98n
Full name	catechol-O-methyltransferase
Gene description	catechol O-methyltransferase\|epididymis secretory sperm binding protein Li 98n
Cytoband	22q11.21
Gene type	protein-coding
Synonymous	MIM:116790; HGNC:HGNC:2228; Ensembl:ENSG00000093010; HPRD:00284; Vega:OTTHUMG00000150529

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.578G>A; p.W193*; 22:19964262-19964262	skin	malignant_melanoma	Substitution - Nonsense
c.696C>T; p.H232H; 22:19968616-19968616	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.177C>T; p.I59I; 22:19962703-19962703	skin	malignant_melanoma	Substitution - coding silent
c.574C>T; p.H192Y; 22:19964258-19964258	skin	malignant_melanoma	Substitution - Missense
c.570C>G; p.L190L; 22:19964254-19964254	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.343C>T; p.L115L; 22:19963619-19963619	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.245A>G; p.Y82C; 22:19962771-19962771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.677C>T; p.A226V; 22:19968597-19968597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.528_530delGAA; p.K179delK; 22:19964212-19964214	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.586C>T; p.R196W; 22:19964270-19964270	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>A; p.Q73Q; 22:19962745-19962745	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.219G>A; p.Q73Q; 22:19962745-19962745	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.645G>T; p.V215V; 22:19968565-19968565	breast	carcinoma	Substitution - coding silent
c.637G>A; p.G213R; 22:19968557-19968557	skin	malignant_melanoma	Substitution - Missense
c.672A>G; p.P224P; 22:19968592-19968592	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.678G>T; p.A226A; 22:19968598-19968598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.756G>A; p.E252E; 22:19968676-19968676	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.365C>T; p.S122L; 22:19963641-19963641	urinary_tract; bladder	carcinoma	Substitution - Missense
c.365C>T; p.S122L; 22:19963641-19963641	urinary_tract; bladder	carcinoma	Substitution - Missense
c.285G>T; p.K95N; 22:19962811-19962811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.700C>T; p.R234C; 22:19968620-19968620	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.186C>T; p.H62H; 22:19962712-19962712	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.172C>T; p.R58C; 22:19962698-19962698	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.157G>A; p.D53N; 22:19962683-19962683	liver	carcinoma	Substitution - Missense
c.597G>A; p.P199P; 22:19964281-19964281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.172C>G; p.R58G; 22:19962698-19962698	prostate	carcinoma	Substitution - Missense
c.616-5T>C; p.?; 22:19968531-19968531	pancreas	carcinoma	Unknown
c.408C>G; p.L136L; 22:19963684-19963684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.408C>G; p.L136L; 22:19963684-19963684	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.408C>G; p.L136L; 22:19963684-19963684	thyroid	other; neoplasm	Substitution - coding silent
c.752G>T; p.R251M; 22:19968672-19968672	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.109G>T; p.G37C; 22:19962635-19962635	ovary	other; neoplasm	Substitution - Missense
c.109G>T; p.G37C; 22:19962635-19962635	ovary	other; neoplasm	Substitution - Missense
c.109G>T; p.G37C; 22:19962635-19962635	ovary	other; neoplasm	Substitution - Missense
c.727C>T; p.H243Y; 22:19968647-19968647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.294G>A; p.K98K; 22:19963570-19963570	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.115A>G; p.N39D; 22:19962641-19962641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.531G>A; p.K177K; 22:19964215-19964215	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.452G>C; p.R151P; 22:19963728-19963728	urinary_tract; bladder	carcinoma	Substitution - Missense
c.44G>T; p.G15V; 22:19962570-19962570	liver	carcinoma	Substitution - Missense
c.44G>T; p.G15V; 22:19962570-19962570	liver	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation