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	25970
Symbol	SH2B1
Synonymous	PSM\|SH2B
Full name	SH2B adaptor protein 1
Gene description	SH2 domain-containing protein 1B\|SH2 domain-containing putative adapter SH2-B\|SH2-B signaling protein\|SH2B adapter protein 1\|pro-rich, PH and SH2 domain-containing signaling mediator
Cytoband	16p11.2
Gene type	protein-coding
Synonymous	MIM:608937; HGNC:HGNC:30417; Ensembl:ENSG00000178188; HPRD:12336; Vega:OTTHUMG00000176590

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1109_1112delACAT; p.D370fs*5; 16:28869073-28869076	endometrium	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1479C>T; p.P493P; 16:28871949-28871949	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1457C>A; p.T486K; 16:28871927-28871927	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.663G>A; p.G221G; 16:28866757-28866757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1711C>T; p.Q571*; 16:28872387-28872387	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.897_902delAGGAGG; p.G302_G303delGG; 16:28866991-28866996	large_intestine	carcinoma; adenocarcinoma	Deletion - In frame
c.1830T>A; p.P610P; 16:28872638-28872638	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1876C>A; p.P626T; 16:28872684-28872684	bone; rib	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1391C>T; p.S464L; 16:28871861-28871861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1333C>T; p.R445C; 16:28871803-28871803	liver	carcinoma	Substitution - Missense
c.1333C>T; p.R445C; 16:28871803-28871803	liver	carcinoma	Substitution - Missense
c.1310G>T; p.G437V; 16:28871780-28871780	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1236G>A; p.L412L; 16:28869310-28869310	skin	malignant_melanoma	Substitution - coding silent
c.1547G>C; p.G516A; 16:28872223-28872223	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.919G>A; p.E307K; 16:28867013-28867013	skin	malignant_melanoma	Substitution - Missense
c.1015G>C; p.D339H; 16:28867406-28867406	urinary_tract; bladder	carcinoma	Substitution - Missense
c.392G>T; p.G131V; 16:28866486-28866486	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.715G>A; p.A239T; 16:28866809-28866809	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1542G>T; p.E514D; 16:28872218-28872218	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1795G>A; p.D599N; 16:28872603-28872603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1795G>A; p.D599N; 16:28872603-28872603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647A>G; p.D216G; 16:28866741-28866741	thyroid	other; neoplasm	Substitution - Missense
c.487C>T; p.R163*; 16:28866581-28866581	skin	malignant_melanoma	Substitution - Nonsense
c.487C>T; p.R163*; 16:28866581-28866581	pancreas	carcinoma	Substitution - Nonsense
c.405C>T; p.S135S; 16:28866499-28866499	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.467G>A; p.R156H; 16:28866561-28866561	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>A; p.R156H; 16:28866561-28866561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.G267E; 16:28866894-28866894	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1726-1G>T; p.?; 16:28872533-28872533	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1511C>G; p.T504R; 16:28871981-28871981	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1392G>A; p.S464S; 16:28871862-28871862	ovary	other; neoplasm	Substitution - coding silent
c.1788C>T; p.S596S; 16:28872596-28872596	skin	malignant_melanoma	Substitution - coding silent
c.849G>T; p.G283G; 16:28866943-28866943	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.904_909delGGAGGA; p.G302_G303delGG; 16:28866998-28867003	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1102G>T; p.V368L; 16:28869066-28869066	liver	carcinoma	Substitution - Missense
c.361G>T; p.G121C; 16:28866455-28866455	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1343C>T; p.A448V; 16:28871813-28871813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1056C>T; p.S352S; 16:28869020-28869020	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.872G>A; p.R291H; 16:28866966-28866966	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1478C>T; p.P493L; 16:28871948-28871948	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1478C>T; p.P493L; 16:28871948-28871948	skin	malignant_melanoma	Substitution - Missense
c.1801C>T; p.L601F; 16:28872609-28872609	skin	malignant_melanoma	Substitution - Missense
c.1040A>G; p.K347R; 16:28867431-28867431	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2001C>T; p.T667T; 16:28873450-28873450	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.281C>T; p.P94L; 16:28866375-28866375	urinary_tract; bladder	carcinoma	Substitution - Missense
c.646G>C; p.D216H; 16:28866740-28866740	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2001C>T; p.T667T; 16:28873450-28873450	breast	carcinoma	Substitution - coding silent
c.1156C>T; p.R386C; 16:28869230-28869230	breast	carcinoma	Substitution - Missense
c.235G>A; p.E79K; 16:28866329-28866329	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1445C>A; p.P482H; 16:28871915-28871915	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.307C>A; p.P103T; 16:28866401-28866401	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1803C>A; p.L601L; 16:28872611-28872611	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.643A>G; p.S215G; 16:28866737-28866737	breast	carcinoma	Substitution - Missense
c.524C>T; p.T175I; 16:28866618-28866618	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417delC; p.R475fs*68; 16:28871887-28871887	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1417delC; p.R475fs*68; 16:28871887-28871887	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1417delC; p.R475fs*68; 16:28871887-28871887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1545C>T; p.G515G; 16:28872221-28872221	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1759T>C; p.C587R; 16:28872567-28872567	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1266C>A; p.D422E; 16:28869340-28869340	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.516G>A; p.W172*; 16:28866610-28866610	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1284C>T; p.S428S; 16:28869358-28869358	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1001C>A; p.A334D; 16:28867392-28867392	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1276G>T; p.G426*; 16:28869350-28869350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.774T>C; p.A258A; 16:28866868-28866868	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1429C>T; p.P477S; 16:28871899-28871899	skin	malignant_melanoma	Substitution - Missense
c.1809C>T; p.H603H; 16:28872617-28872617	skin	malignant_melanoma	Substitution - coding silent
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523A>G; p.T175A; 16:28866617-28866617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.808C>T; p.R270W; 16:28866902-28866902	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.399_400CC>TA; p.P134T; 16:28866493-28866494	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1023G>C; p.E341D; 16:28867414-28867414	breast	carcinoma	Substitution - Missense
c.780G>T; p.E260D; 16:28866874-28866874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1304C>T; p.S435L; 16:28869378-28869378	skin	malignant_melanoma	Substitution - Missense
c.382G>T; p.D128Y; 16:28866476-28866476	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195C>T; p.S65S; 16:28866289-28866289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.428_430delCCT; p.S145delS; 16:28866522-28866524	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.624C>T; p.T208T; 16:28866718-28866718	skin	malignant_melanoma	Substitution - coding silent
c.1900C>T; p.R634W; 16:28873172-28873172	prostate	carcinoma	Substitution - Missense
c.1746C>A; p.N582K; 16:28872554-28872554	breast	carcinoma	Substitution - Missense
c.1289G>C; p.S430T; 16:28869363-28869363	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1827C>T; p.I609I; 16:28872635-28872635	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.305C>T; p.S102L; 16:28866399-28866399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.632G>A; p.R211K; 16:28866726-28866726	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.264G>A; p.S88S; 16:28866358-28866358	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.570C>T; p.G190G; 16:28866664-28866664	skin	malignant_melanoma	Substitution - coding silent
c.1277G>A; p.G426E; 16:28869351-28869351	skin	malignant_melanoma	Substitution - Missense
c.1733G>A; p.R578H; 16:28872541-28872541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1733G>A; p.R578H; 16:28872541-28872541	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.709delG; p.G238fs*3; 16:28866803-28866803	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1771C>T; p.H591Y; 16:28872579-28872579	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1328C>G; p.S443*; 16:28871798-28871798	breast	carcinoma	Substitution - Nonsense
c.914G>T; p.R305L; 16:28867008-28867008	urinary_tract; bladder	carcinoma	Substitution - Missense
c.634G>T; p.G212*; 16:28866728-28866728	oesophagus	carcinoma	Substitution - Nonsense
c.1880C>T; p.S627F; 16:28872688-28872688	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1259G>A; p.S420N; 16:28869333-28869333	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1501G>A; p.E501K; 16:28871971-28871971	skin	malignant_melanoma	Substitution - Missense
c.1501G>A; p.E501K; 16:28871971-28871971	skin	malignant_melanoma	Substitution - Missense
c.1132G>T; p.G378*; 16:28869096-28869096	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1428C>T; p.I476I; 16:28871898-28871898	skin	malignant_melanoma	Substitution - coding silent
c.1132G>T; p.G378*; 16:28869096-28869096	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1663C>T; p.R555C; 16:28872339-28872339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1047A>G; p.E349E; 16:28869011-28869011	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1130C>T; p.P377L; 16:28869094-28869094	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1047A>G; p.E349E; 16:28869011-28869011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.693G>A; p.L231L; 16:28866787-28866787	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1416_1417insC; p.R475fs*5; 16:28871886-28871887	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1444delC; p.P483fs*60; 16:28871914-28871914	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.152C>G; p.S51C; 16:28866246-28866246	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1584C>T; p.F528F; 16:28872260-28872260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.608C>G; p.S203C; 16:28866702-28866702	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1379C>T; p.S460F; 16:28871849-28871849	skin	malignant_melanoma	Substitution - Missense
c.654G>A; p.T218T; 16:28866748-28866748	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1046A>C; p.E349A; 16:28869010-28869010	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.572C>T; p.P191L; 16:28866666-28866666	skin	malignant_melanoma	Substitution - Missense
c.1334G>A; p.R445H; 16:28871804-28871804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138T>C; p.C380R; 16:28869212-28869212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1466C>T; p.P489L; 16:28871936-28871936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1947C>T; p.C649C; 16:28873219-28873219	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1947C>T; p.C649C; 16:28873219-28873219	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1803C>T; p.L601L; 16:28872611-28872611	skin	malignant_melanoma	Substitution - coding silent
c.1760G>T; p.C587F; 16:28872568-28872568	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.183G>A; p.E61E; 16:28866277-28866277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.390C>T; p.A130A; 16:28866484-28866484	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.507C>T; p.I169I; 16:28866601-28866601	skin	malignant_melanoma	Substitution - coding silent
c.1646A>C; p.H549P; 16:28872322-28872322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>C; p.H549P; 16:28872322-28872322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>C; p.H549P; 16:28872322-28872322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>C; p.H549P; 16:28872322-28872322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>C; p.H549P; 16:28872322-28872322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1646A>C; p.H549P; 16:28872322-28872322	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1450A>G; p.T484A; 16:28871920-28871920	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1450A>G; p.T484A; 16:28871920-28871920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2002G>A; p.D668N; 16:28873451-28873451	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1023G>T; p.E341D; 16:28867414-28867414	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2002G>A; p.D668N; 16:28873451-28873451	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1732C>T; p.R578C; 16:28872540-28872540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1732C>T; p.R578C; 16:28872540-28872540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1555G>A; p.D519N; 16:28872231-28872231	breast	carcinoma	Substitution - Missense
c.1805A>T; p.E602V; 16:28872613-28872613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.517_518insG; p.T175fs*3; 16:28866611-28866612	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation