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	10507
Symbol	SEMA4D
Synonymous	C9orf164\|CD100\|M-sema-G\|SEMAJ\|coll-4
Full name	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
Gene description	A8\|BB18\|GR3\|sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4D\|semaphorin-4D
Cytoband	9q22.2
Gene type	protein-coding
Synonymous	MIM:601866; HGNC:HGNC:10732; Ensembl:ENSG00000187764; HPRD:03520; Vega:OTTHUMG00000020185

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.603T>A; p.Y201*; 9:89392442-89392442	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.2106G>A; p.A702A; 9:89379187-89379187	central_nervous_system; brain	glioma	Substitution - coding silent
c.86G>A; p.R29Q; 9:89405371-89405371	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.671C>T; p.P224L; 9:89391367-89391367	skin	malignant_melanoma	Substitution - Missense
c.179A>G; p.D60G; 9:89402944-89402944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2574C>T; p.D858D; 9:89378719-89378719	central_nervous_system; brain	glioma	Substitution - coding silent
c.1722G>C; p.L574L; 9:89379571-89379571	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1365G>A; p.E455E; 9:89386448-89386448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.754C>T; p.R252W; 9:89391284-89391284	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.964C>A; p.L322M; 9:89388779-89388779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1169C>T; p.T390M; 9:89387547-89387547	breast	carcinoma	Substitution - Missense
c.2331_2332insAAG; p.K777_P778insK; 9:89378961-89378962	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.388G>A; p.A130T; 9:89396763-89396763	large_intestine; colon	NS	Substitution - Missense
c.388G>A; p.A130T; 9:89396763-89396763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2075C>G; p.S692C; 9:89379218-89379218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1873C>A; p.L625M; 9:89379420-89379420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2152C>T; p.P718S; 9:89379141-89379141	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.112C>T; p.H38Y; 9:89403011-89403011	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2152C>T; p.P718S; 9:89379141-89379141	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.233T>C; p.I78T; 9:89402890-89402890	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.532T>A; p.S178T; 9:89392513-89392513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.532T>A; p.S178T; 9:89392513-89392513	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.186G>A; p.L62L; 9:89402937-89402937	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1940A>C; p.K647T; 9:89379353-89379353	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1948C>T; p.P650S; 9:89379345-89379345	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2075C>T; p.S692F; 9:89379218-89379218	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.456C>G; p.G152G; 9:89393614-89393614	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.369T>G; p.L123L; 9:89396782-89396782	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.679G>A; p.E227K; 9:89391359-89391359	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2236C>G; p.L746V; 9:89379057-89379057	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2397C>T; p.F799F; 9:89378896-89378896	breast	carcinoma	Substitution - coding silent
c.1394A>G; p.Q465R; 9:89386419-89386419	prostate	carcinoma	Substitution - Missense
c.696_698delCTT; p.F235delF; 9:89391340-89391342	ovary	carcinoma	Deletion - In frame
c.2136C>T; p.I712I; 9:89379157-89379157	skin	malignant_melanoma	Substitution - coding silent
c.2370G>A; p.K790K; 9:89378923-89378923	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1589T>A; p.V530E; 9:89381204-89381204	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.623-1G>A; p.?; 9:89391416-89391416	skin	malignant_melanoma	Unknown
c.1700A>T; p.K567M; 9:89379593-89379593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.168C>T; p.S56S; 9:89402955-89402955	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.879G>A; p.L293L; 9:89388943-89388943	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.357C>T; p.S119S; 9:89396794-89396794	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2395T>G; p.F799V; 9:89378898-89378898	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1079G>A; p.G360D; 9:89388664-89388664	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.337C>T; p.R113W; 9:89396814-89396814	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.633C>T; p.F211F; 9:89391405-89391405	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1882G>A; p.E628K; 9:89379411-89379411	skin	malignant_melanoma	Substitution - Missense
c.720G>T; p.V240V; 9:89391318-89391318	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1152G>T; p.L384F; 9:89387564-89387564	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.836T>C; p.L279P; 9:89388986-89388986	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1152G>T; p.L384F; 9:89387564-89387564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1270G>A; p.V424M; 9:89387446-89387446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1645G>A; p.D549N; 9:89381073-89381073	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2095C>T; p.P699S; 9:89379198-89379198	breast	carcinoma	Substitution - Missense
c.1660C>T; p.P554S; 9:89381058-89381058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.771C>T; p.C257C; 9:89391267-89391267	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1114G>A; p.D372N; 9:89387602-89387602	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2431C>A; p.L811M; 9:89378862-89378862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1901C>T; p.T634M; 9:89379392-89379392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1380C>A; p.I460I; 9:89386433-89386433	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2519C>T; p.S840F; 9:89378774-89378774	skin	malignant_melanoma	Substitution - Missense
c.1967C>T; p.P656L; 9:89379326-89379326	skin	malignant_melanoma	Substitution - Missense
c.1069C>T; p.R357C; 9:89388674-89388674	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1069C>T; p.R357C; 9:89388674-89388674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2084T>C; p.I695T; 9:89379209-89379209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1113C>G; p.I371M; 9:89387603-89387603	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.621_622+4delCGGTAA; p.?; 9:89392419-89392424	NS	NS	Unknown
c.499G>A; p.V167I; 9:89393571-89393571	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1630C>G; p.Q544E; 9:89381088-89381088	breast	carcinoma	Substitution - Missense
c.499G>A; p.V167I; 9:89393571-89393571	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2059G>A; p.V687M; 9:89379234-89379234	prostate	carcinoma	Substitution - Missense
c.198C>A; p.A66A; 9:89402925-89402925	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1985A>G; p.Q662R; 9:89379308-89379308	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.30G>T; p.L10L; 9:89405427-89405427	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788C>T; p.A596A; 9:89379505-89379505	skin	malignant_melanoma	Substitution - coding silent
c.634G>A; p.V212M; 9:89391404-89391404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2039C>T; p.S680F; 9:89379254-89379254	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.864G>T; p.L288F; 9:89388958-89388958	urinary_tract; bladder	carcinoma	Substitution - Missense
c.587C>T; p.P196L; 9:89392458-89392458	skin	malignant_melanoma	Substitution - Missense
c.1314C>A; p.V438V; 9:89387402-89387402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.587C>A; p.P196H; 9:89392458-89392458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.464G>A; p.R155K; 9:89393606-89393606	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>A; p.A378T; 9:89387584-89387584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1833C>T; p.I611I; 9:89379460-89379460	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1157T>C; p.L386S; 9:89387559-89387559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1120G>A; p.E374K; 9:89387596-89387596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2485G>A; p.D829N; 9:89378808-89378808	skin	malignant_melanoma	Substitution - Missense
c.645C>T; p.D215D; 9:89391393-89391393	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.497C>T; p.S166F; 9:89393573-89393573	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1775G>A; p.G592D; 9:89379518-89379518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>A; p.A120T; 9:89396793-89396793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2508C>T; p.I836I; 9:89378785-89378785	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.534G>A; p.S178S; 9:89392511-89392511	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.534G>A; p.S178S; 9:89392511-89392511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.534G>A; p.S178S; 9:89392511-89392511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.498C>T; p.S166S; 9:89393572-89393572	skin	malignant_melanoma	Substitution - coding silent
c.223G>A; p.A75T; 9:89402900-89402900	pancreas	carcinoma	Substitution - Missense
c.223G>A; p.A75T; 9:89402900-89402900	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.90C>T; p.I30I; 9:89405367-89405367	skin	malignant_melanoma	Substitution - coding silent
c.105A>T; p.R35S; 9:89405352-89405352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.778G>A; p.D260N; 9:89389044-89389044	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2165C>T; p.S722L; 9:89379128-89379128	urinary_tract; bladder	carcinoma	Substitution - Missense
c.416A>G; p.N139S; 9:89393654-89393654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.913A>T; p.K305*; 9:89388909-89388909	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1317G>A; p.M439I; 9:89387399-89387399	prostate	carcinoma	Substitution - Missense
c.1545G>A; p.A515A; 9:89381248-89381248	large_intestine; rectum	NS	Substitution - coding silent
c.1844C>T; p.S615L; 9:89379449-89379449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2107C>T; p.P703S; 9:89379186-89379186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1844C>T; p.S615L; 9:89379449-89379449	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1902G>A; p.T634T; 9:89379391-89379391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.517C>G; p.L173V; 9:89392528-89392528	skin	malignant_melanoma	Substitution - Missense
c.2260A>G; p.N754D; 9:89379033-89379033	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.329A>G; p.N110S; 9:89396822-89396822	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1689G>A; p.Q563Q; 9:89379604-89379604	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.859G>A; p.G287S; 9:89388963-89388963	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2099A>T; p.K700M; 9:89379194-89379194	liver	carcinoma	Substitution - Missense
c.2099A>T; p.K700M; 9:89379194-89379194	liver	carcinoma	Substitution - Missense
c.2513A>G; p.D838G; 9:89378780-89378780	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.840C>T; p.I280I; 9:89388982-89388982	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974G>A; p.L658L; 9:89379319-89379319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2205C>T; p.L735L; 9:89379088-89379088	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1454G>T; p.R485M; 9:89381339-89381339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1927G>A; p.V643I; 9:89379366-89379366	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1285C>T; p.Q429*; 9:89387431-89387431	skin	malignant_melanoma	Substitution - Nonsense
c.1549G>T; p.D517Y; 9:89381244-89381244	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.533C>T; p.S178L; 9:89392512-89392512	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>A; p.V643I; 9:89379366-89379366	pancreas	carcinoma	Substitution - Missense
c.1591G>T; p.A531S; 9:89381202-89381202	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1552C>T; p.P518S; 9:89381241-89381241	skin	malignant_melanoma	Substitution - Missense
c.1280G>A; p.R427Q; 9:89387436-89387436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1000G>A; p.E334K; 9:89388743-89388743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2017T>C; p.L673L; 9:89379276-89379276	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1000G>A; p.E334K; 9:89388743-89388743	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1957G>A; p.V653I; 9:89379336-89379336	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1716G>A; p.A572A; 9:89379577-89379577	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1716G>A; p.A572A; 9:89379577-89379577	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1017C>T; p.H339H; 9:89388726-89388726	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2166G>T; p.S722S; 9:89379127-89379127	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.164T>C; p.L55P; 9:89402959-89402959	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1730C>T; p.S577F; 9:89379563-89379563	skin	malignant_melanoma	Substitution - Missense
c.750C>T; p.I250I; 9:89391288-89391288	skin	malignant_melanoma	Substitution - coding silent
c.2440G>A; p.G814S; 9:89378853-89378853	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.569G>A; p.R190Q; 9:89392476-89392476	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.200G>A; p.R67Q; 9:89402923-89402923	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2466C>T; p.I822I; 9:89378827-89378827	pancreas	NS	Substitution - coding silent
c.919C>T; p.P307S; 9:89388903-89388903	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1580C>T; p.A527V; 9:89381213-89381213	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.646G>A; p.V216M; 9:89391392-89391392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1814G>A; p.G605D; 9:89379479-89379479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244C>T; p.Q82*; 9:89402879-89402879	breast	carcinoma	Substitution - Nonsense
c.905C>T; p.P302L; 9:89388917-89388917	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1528G>A; p.E510K; 9:89381265-89381265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.17C>T; p.P6L; 9:89405440-89405440	skin	malignant_melanoma	Substitution - Missense
c.193G>T; p.G65C; 9:89402930-89402930	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>C; p.A451P; 9:89386462-89386462	skin; extremity	malignant_melanoma	Substitution - Missense
c.755G>A; p.R252Q; 9:89391283-89391283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755G>A; p.R252Q; 9:89391283-89391283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1697_1698insT; p.K567fs*65; 9:89379595-89379596	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.214G>A; p.A72T; 9:89402909-89402909	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.214G>A; p.A72T; 9:89402909-89402909	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1269C>T; p.I423I; 9:89387447-89387447	skin	malignant_melanoma	Substitution - coding silent
c.1179C>T; p.F393F; 9:89387537-89387537	skin	malignant_melanoma	Substitution - coding silent
c.1179C>T; p.F393F; 9:89387537-89387537	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1179C>T; p.F393F; 9:89387537-89387537	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1555T>C; p.Y519H; 9:89381238-89381238	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1119C>T; p.S373S; 9:89387597-89387597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1119C>T; p.S373S; 9:89387597-89387597	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1079G>T; p.G360V; 9:89388664-89388664	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1384G>A; p.E462K; 9:89386429-89386429	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.818C>T; p.S273F; 9:89389004-89389004	breast	carcinoma	Substitution - Missense
c.905C>A; p.P302Q; 9:89388917-89388917	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation