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	27429
Symbol	HTRA2
Synonymous	OMI\|PARK13\|PRSS25
Full name	HtrA serine peptidase 2
Gene description	HtrA-like serine protease\|Omi stress-regulated endoprotease\|high temperature requirement protein A2\|protease, serine, 25\|serine protease 25\|serine protease HTRA2, mitochondrial\|serine proteinase OMI
Cytoband	2p12
Gene type	protein-coding
Synonymous	MIM:606441; HGNC:HGNC:14348; Ensembl:ENSG00000115317; HPRD:05919; Vega:OTTHUMG00000129957

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1295G>A; p.R432Q; 2:74532903-74532903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1078C>T; p.R360C; 2:74531888-74531888	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1078C>T; p.R360C; 2:74531888-74531888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.532C>T; p.P178S; 2:74530642-74530642	skin	malignant_melanoma	Substitution - Missense
c.573G>A; p.G191G; 2:74530683-74530683	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.573G>A; p.G191G; 2:74530683-74530683	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.568G>A; p.D190N; 2:74530678-74530678	urinary_tract; bladder	carcinoma	Substitution - Missense
c.718C>T; p.L240F; 2:74530917-74530917	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.911G>A; p.G304E; 2:74531343-74531343	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191G>A; p.G64E; 2:74530197-74530197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.604G>A; p.D202N; 2:74530714-74530714	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.379G>T; p.G127C; 2:74530385-74530385	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.604G>A; p.D202N; 2:74530714-74530714	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1324C>T; p.R442W; 2:74532932-74532932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1324C>T; p.R442W; 2:74532932-74532932	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.109G>A; p.A37T; 2:74530115-74530115	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.340delG; p.A116fs*93; 2:74530346-74530346	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.215T>A; p.L72Q; 2:74530221-74530221	liver	carcinoma	Substitution - Missense
c.215T>A; p.L72Q; 2:74530221-74530221	liver	carcinoma	Substitution - Missense
c.1057G>A; p.G353R; 2:74531867-74531867	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1009C>A; p.R337S; 2:74531666-74531666	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.209C>T; p.A70V; 2:74530215-74530215	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1191C>T; p.I397I; 2:74532694-74532694	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1191C>T; p.I397I; 2:74532694-74532694	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1079G>A; p.R360H; 2:74531889-74531889	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>A; p.Q388Q; 2:74532667-74532667	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1164G>A; p.Q388Q; 2:74532667-74532667	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.31G>A; p.G11S; 2:74530037-74530037	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>A; p.R18Q; 2:74530059-74530059	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1349T>G; p.L450*; 2:74532957-74532957	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.782G>A; p.G261E; 2:74530981-74530981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.711+3delG; p.?; 2:74530824-74530824	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1241T>A; p.L414*; 2:74532849-74532849	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.70C>T; p.R24C; 2:74530076-74530076	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.411C>A; p.S137R; 2:74530417-74530417	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1285G>T; p.E429*; 2:74532893-74532893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1192C>T; p.L398L; 2:74532695-74532695	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1016G>A; p.R339Q; 2:74531673-74531673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.971A>G; p.K324R; 2:74531628-74531628	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.835C>G; p.Q279E; 2:74531034-74531034	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.44G>C; p.R15P; 2:74530050-74530050	ovary	other; neoplasm	Substitution - Missense
c.44G>C; p.R15P; 2:74530050-74530050	ovary	other; neoplasm	Substitution - Missense
c.808A>G; p.I270V; 2:74531007-74531007	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.12G>A; p.P4P; 2:74530018-74530018	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.12G>A; p.P4P; 2:74530018-74530018	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.12G>A; p.P4P; 2:74530018-74530018	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.538T>C; p.S180P; 2:74530648-74530648	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.488A>G; p.Y163C; 2:74530494-74530494	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.102C>T; p.D34D; 2:74530108-74530108	skin	malignant_melanoma	Substitution - coding silent
c.45G>C; p.R15R; 2:74530051-74530051	ovary	other; neoplasm	Substitution - coding silent
c.45G>C; p.R15R; 2:74530051-74530051	ovary	other; neoplasm	Substitution - coding silent
c.149T>G; p.V50G; 2:74530155-74530155	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1031G>A; p.R344H; 2:74531688-74531688	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.237_238CC>TT; p.R80W; 2:74530243-74530244	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.705G>C; p.Q235H; 2:74530815-74530815	urinary_tract; bladder	carcinoma	Substitution - Missense
c.733C>T; p.L245L; 2:74530932-74530932	breast	carcinoma	Substitution - coding silent
c.483G>A; p.V161V; 2:74530489-74530489	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1334G>A; p.R445Q; 2:74532942-74532942	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1138C>T; p.R380*; 2:74532641-74532641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.574C>A; p.L192I; 2:74530684-74530684	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.995C>T; p.A332V; 2:74531652-74531652	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.269C>T; p.T90I; 2:74530275-74530275	skin	malignant_melanoma	Substitution - Missense
c.539C>G; p.S180W; 2:74530649-74530649	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.33C>T; p.G11G; 2:74530039-74530039	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.254C>T; p.A85V; 2:74530260-74530260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.18G>A; p.A6A; 2:74530024-74530024	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1329G>T; p.R443R; 2:74532937-74532937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1344G>C; p.L448L; 2:74532952-74532952	liver	carcinoma	Substitution - coding silent
c.221C>G; p.S74C; 2:74530227-74530227	oesophagus	carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation