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	23671
Symbol	TMEFF2
Synonymous	CT120.2\|HPP1\|TENB2\|TPEF\|TR\|TR-2
Full name	transmembrane protein with EGF-like and two follistatin-like domains 2
Gene description	cancer/testis antigen family 120, member 2\|hyperplastic polyposis protein 1\|tomoregulin\|tomoregulin-2\|transmembrane protein TENB2
Cytoband	2q32.3
Gene type	protein-coding
Synonymous	MIM:605734; HGNC:HGNC:11867; Ensembl:ENSG00000144339; HPRD:05760; Vega:OTTHUMG00000132723

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.333G>A; p.Q111Q; 2:192184433-192184433	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.516C>T; p.D172D; 2:192057699-192057699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.838C>A; p.H280N; 2:191956286-191956286	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.571T>G; p.F191V; 2:191999174-191999174	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1049G>T; p.R350I; 2:191950387-191950387	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.851T>C; p.M284T; 2:191956273-191956273	breast	carcinoma	Substitution - Missense
c.303T>C; p.P101P; 2:192184463-192184463	breast	carcinoma	Substitution - coding silent
c.157G>A; p.G53S; 2:192194368-192194368	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552T>A; p.I184I; 2:191999193-191999193	ovary	other; neoplasm	Substitution - coding silent
c.585C>T; p.C195C; 2:191999160-191999160	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.585C>T; p.C195C; 2:191999160-191999160	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.366A>G; p.K122K; 2:192184400-192184400	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.778G>A; p.E260K; 2:191956346-191956346	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.255C>A; p.D85E; 2:192191907-192191907	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 2:192194476-192194476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.579C>T; p.P193P; 2:191999166-191999166	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.950T>G; p.F317C; 2:191953757-191953757	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.607G>A; p.D203N; 2:191999138-191999138	urinary_tract; bladder	carcinoma	Substitution - Missense
c.23G>A; p.R8Q; 2:192194502-192194502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.940C>A; p.P314T; 2:191953767-191953767	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.816C>A; p.F272L; 2:191956308-191956308	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.666G>A; p.M222I; 2:191999079-191999079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.947G>A; p.R316Q; 2:191953760-191953760	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1056C>A; p.H352Q; 2:191950380-191950380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.947G>A; p.R316Q; 2:191953760-191953760	skin	malignant_melanoma	Substitution - Missense
c.947G>A; p.R316Q; 2:191953760-191953760	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.927C>T; p.Y309Y; 2:191953780-191953780	skin; nipple	malignant_melanoma	Substitution - coding silent
c.27G>A; p.Q9Q; 2:192194498-192194498	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.341G>A; p.C114Y; 2:192184425-192184425	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.738T>G; p.D246E; 2:191998269-191998269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1049G>A; p.R350K; 2:191950387-191950387	skin	malignant_melanoma	Substitution - Missense
c.204C>T; p.L68L; 2:192191958-192191958	skin	malignant_melanoma	Substitution - coding silent
c.662T>A; p.V221D; 2:191999083-191999083	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.R226Q; 2:191999068-191999068	skin	malignant_melanoma	Substitution - Missense
c.503G>A; p.G168D; 2:192057712-192057712	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.554A>C; p.D185A; 2:191999191-191999191	breast	carcinoma	Substitution - Missense
c.603T>C; p.S201S; 2:191999142-191999142	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.831_844del14; p.K277fs*11; 2:191956280-191956293	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.910G>C; p.D304H; 2:191953797-191953797	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.940C>T; p.P314S; 2:191953767-191953767	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.592G>T; p.D198Y; 2:191999153-191999153	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.41C>T; p.T14I; 2:192194484-192194484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.917G>A; p.S306N; 2:191953790-191953790	skin	malignant_melanoma	Substitution - Missense
c.593A>T; p.D198V; 2:191999152-191999152	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.397_398GG>AA; p.G133K; 2:192184368-192184369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.28T>G; p.C10G; 2:192194497-192194497	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.517G>A; p.E173K; 2:192057698-192057698	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.768A>T; p.E256D; 2:191956356-191956356	skin	malignant_melanoma	Substitution - Missense
c.1002C>A; p.I334I; 2:191953705-191953705	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.322G>A; p.E108K; 2:192184444-192184444	skin	malignant_melanoma	Substitution - Missense
c.658G>A; p.E220K; 2:191999087-191999087	skin	malignant_melanoma	Substitution - Missense
c.658G>A; p.E220K; 2:191999087-191999087	skin	malignant_melanoma	Substitution - Missense
c.1037C>A; p.P346H; 2:191950399-191950399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.476C>A; p.T159K; 2:192057739-192057739	central_nervous_system; brain	glioma	Substitution - Missense
c.927C>G; p.Y309*; 2:191953780-191953780	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.972T>A; p.A324A; 2:191953735-191953735	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.910G>A; p.D304N; 2:191953797-191953797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.910G>A; p.D304N; 2:191953797-191953797	skin	malignant_melanoma	Substitution - Missense
c.1035C>T; p.C345C; 2:191950401-191950401	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.439+10G>A; p.?; 2:192179658-192179658	pancreas	carcinoma	Unknown
c.439+10G>A; p.?; 2:192179658-192179658	pancreas	carcinoma	Unknown
c.150G>A; p.T50T; 2:192194375-192194375	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.797C>T; p.P266L; 2:191956327-191956327	kidney	other; neoplasm	Substitution - Missense
c.980G>C; p.G327A; 2:191953727-191953727	central_nervous_system; brain	glioma	Substitution - Missense
c.219C>A; p.T73T; 2:192191943-192191943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.189A>G; p.E63E; 2:192191973-192191973	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.624C>T; p.I208I; 2:191999121-191999121	skin	malignant_melanoma	Substitution - coding silent
c.979G>A; p.G327R; 2:191953728-191953728	skin	malignant_melanoma	Substitution - Missense
c.318T>A; p.N106K; 2:192184448-192184448	central_nervous_system; brain	glioma	Substitution - Missense
c.318T>A; p.N106K; 2:192184448-192184448	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.156C>T; p.T52T; 2:192194369-192194369	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.78C>T; p.P26P; 2:192194447-192194447	skin	malignant_melanoma	Substitution - coding silent
c.84G>A; p.M28I; 2:192194441-192194441	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.521A>C; p.D174A; 2:192057694-192057694	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.286A>C; p.N96H; 2:192184480-192184480	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.908A>G; p.K303R; 2:191953799-191953799	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.218C>A; p.T73N; 2:192191944-192191944	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.101G>A; p.R34H; 2:192194424-192194424	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.101G>A; p.R34H; 2:192194424-192194424	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.536+2T>A; p.?; 2:192057677-192057677	lung	carcinoma; adenocarcinoma	Unknown
c.74_76delTGC; p.L25delL; 2:192194449-192194451	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.401C>A; p.S134*; 2:192184365-192184365	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1092C>A; p.D364E; 2:191950344-191950344	pancreas	NS	Substitution - Missense
c.928G>A; p.V310I; 2:191953779-191953779	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.378G>T; p.E126D; 2:192184388-192184388	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.585C>A; p.C195*; 2:191999160-191999160	liver	carcinoma	Substitution - Nonsense
c.301C>G; p.P101A; 2:192184465-192184465	pancreas	carcinoma	Substitution - Missense
c.1106C>T; p.A369V; 2:191950330-191950330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.632C>A; p.A211E; 2:191999113-191999113	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.385G>C; p.V129L; 2:192184381-192184381	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>T; p.G313C; 2:191953770-191953770	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.908delA; p.K303fs*19; 2:191953799-191953799	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.908delA; p.K303fs*19; 2:191953799-191953799	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.613G>T; p.A205S; 2:191999132-191999132	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.48C>T; p.C16C; 2:192194477-192194477	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.350G>A; p.R117Q; 2:192184416-192184416	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.922C>G; p.L308V; 2:191953785-191953785	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.630A>C; p.E210D; 2:191999115-191999115	stomach	adenocarcinoma	Substitution - Missense
c.811G>A; p.G271S; 2:191956313-191956313	liver	carcinoma	Substitution - Missense
c.591T>A; p.S197S; 2:191999154-191999154	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.811G>A; p.G271S; 2:191956313-191956313	liver	carcinoma	Substitution - Missense
c.908_909insA; p.D304fs*>72; 2:191953798-191953799	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.870-2A>T; p.?; 2:191953839-191953839	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.242T>C; p.L81S; 2:192191920-192191920	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.242T>C; p.L81S; 2:192191920-192191920	urinary_tract; bladder	carcinoma	Substitution - Missense
c.676C>T; p.R226*; 2:191999069-191999069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.601T>C; p.S201P; 2:191999144-191999144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.984A>G; p.T328T; 2:191953723-191953723	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.747G>A; p.E249E; 2:191956377-191956377	pancreas	carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation