Entrez Gene

Basic Information
Gene ID	117178
Name	SSX2IP
Synonymous	synovial sarcoma, X breakpoint 2 interacting protein;SSX2IP;synovial sarcoma, X breakpoint 2 interacting protein
Definition	SSX2-interacting protein\|afadin DIL domain-interacting protein\|afadin- and alpha-actinin-binding protein
Position	1p22.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1246A>G; p.T416A; 1:84655975-84655975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.864G>T; p.M288I; 1:84662261-84662261	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1758A>G; p.A586A; 1:84647520-84647520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158C>T; p.L386L; 1:84656405-84656405	breast	carcinoma	Substitution - coding silent
c.1043T>A; p.I348N; 1:84658353-84658353	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1158C>T; p.L386L; 1:84656405-84656405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>A; p.D313N; 1:84658459-84658459	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>T; p.R266C; 1:84662329-84662329	skin	malignant_melanoma	Substitution - Missense
c.1034A>T; p.Q345L; 1:84658362-84658362	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.250G>A; p.E84K; 1:84669857-84669857	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.184A>G; p.I62V; 1:84670675-84670675	skin	malignant_melanoma	Substitution - Missense
c.1361C>T; p.T454I; 1:84655860-84655860	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.751A>C; p.N251H; 1:84662374-84662374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.67A>G; p.T23A; 1:84670792-84670792	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1698T>G; p.A566A; 1:84647580-84647580	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1698T>G; p.A566A; 1:84647580-84647580	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.693T>C; p.Y231Y; 1:84662511-84662511	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.828A>C; p.E276D; 1:84662297-84662297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.275G>T; p.R92I; 1:84669832-84669832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1009C>G; p.Q337E; 1:84658387-84658387	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790G>T; p.S597I; 1:84647488-84647488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.373T>G; p.L125V; 1:84669734-84669734	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1058T>C; p.V353A; 1:84658338-84658338	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.852G>C; p.M284I; 1:84662273-84662273	urinary_tract; bladder	carcinoma	Substitution - Missense
c.733G>A; p.G245S; 1:84662471-84662471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.733G>A; p.G245S; 1:84662471-84662471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.733G>A; p.G245S; 1:84662471-84662471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.I186I; 1:84664532-84664532	breast	carcinoma	Substitution - coding silent
c.1042A>T; p.I348F; 1:84658354-84658354	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.43G>T; p.E15*; 1:84671177-84671177	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1587C>T; p.C529C; 1:84650445-84650445	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.194G>A; p.S65N; 1:84670665-84670665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.757G>A; p.D253N; 1:84662368-84662368	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.841C>A; p.L281I; 1:84662284-84662284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1183G>T; p.E395*; 1:84656380-84656380	breast	carcinoma	Substitution - Nonsense
c.375G>T; p.L125F; 1:84669732-84669732	breast	carcinoma	Substitution - Missense
c.1190T>G; p.I397S; 1:84656373-84656373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1452C>A; p.T484T; 1:84651935-84651935	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.735T>C; p.G245G; 1:84662469-84662469	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1375C>T; p.R459C; 1:84655846-84655846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1515G>T; p.W505C; 1:84650517-84650517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1332G>T; p.K444N; 1:84655889-84655889	breast	carcinoma	Substitution - Missense
c.383G>A; p.G128E; 1:84669724-84669724	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1332G>T; p.K444N; 1:84655889-84655889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.775C>A; p.L259I; 1:84662350-84662350	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.577C>T; p.Q193*; 1:84664513-84664513	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.797G>A; p.R266H; 1:84662328-84662328	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.A318A; 1:84658442-84658442	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.927+1delG; p.?; 1:84662197-84662197	central_nervous_system; medulla	glioma; astrocytoma_Grade_III	Unknown
c.5G>T; p.G2V; 1:84671215-84671215	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.784G>A; p.D262N; 1:84662341-84662341	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1652C>A; p.S551Y; 1:84650380-84650380	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.676A>G; p.M226V; 1:84662528-84662528	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1486T>C; p.F496L; 1:84651901-84651901	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.299T>C; p.L100P; 1:84669808-84669808	skin	malignant_melanoma	Substitution - Missense
c.1029A>C; p.R343S; 1:84658367-84658367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.189A>G; p.E63E; 1:84670670-84670670	skin	malignant_melanoma	Substitution - coding silent
c.1694C>A; p.T565N; 1:84647584-84647584	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>T; p.G319W; 1:84658441-84658441	thyroid	other; neoplasm	Substitution - Missense
c.856A>G; p.K286E; 1:84662269-84662269	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.978G>A; p.M326I; 1:84658418-84658418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158delT; p.F53fs*21; 1:84670701-84670701	liver	carcinoma	Deletion - Frameshift
c.584A>G; p.N195S; 1:84664506-84664506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.817G>A; p.E273K; 1:84662308-84662308	skin	malignant_melanoma	Substitution - Missense
c.1824A>G; p.V608V; 1:84647454-84647454	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1261C>T; p.R421*; 1:84655960-84655960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.631C>T; p.R211C; 1:84664459-84664459	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1523T>G; p.L508R; 1:84650509-84650509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1815T>C; p.N605N; 1:84647463-84647463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.273G>C; p.K91N; 1:84669834-84669834	breast	carcinoma	Substitution - Missense
c.869C>A; p.S290Y; 1:84662256-84662256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.869C>A; p.S290Y; 1:84662256-84662256	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.869C>A; p.S290Y; 1:84662256-84662256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1757C>T; p.A586V; 1:84647521-84647521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1155A>G; p.K385K; 1:84656408-84656408	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.607C>T; p.R203C; 1:84664483-84664483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607C>T; p.R203C; 1:84664483-84664483	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1716T>C; p.N572N; 1:84647562-84647562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1741C>A; p.Q581K; 1:84647537-84647537	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>G; p.S490*; 1:84651918-84651918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1732T>C; p.C578R; 1:84647546-84647546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1285A>T; p.K429*; 1:84655936-84655936	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1023C>T; p.S341S; 1:84658373-84658373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1536G>A; p.S512S; 1:84650496-84650496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1168A>G; p.I390V; 1:84656395-84656395	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.877T>A; p.S293T; 1:84662248-84662248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.899G>T; p.R300I; 1:84662226-84662226	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.750-1G>A; p.?; 1:84662376-84662376	stomach	carcinoma; adenocarcinoma	Unknown
c.1158C>A; p.L386L; 1:84656405-84656405	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1022G>A; p.S341N; 1:84658374-84658374	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.72A>G; p.S24S; 1:84670787-84670787	breast	carcinoma	Substitution - coding silent
c.857delA; p.K286fs*3; 1:84662268-84662268	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1294C>T; p.L432F; 1:84655927-84655927	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.760G>T; p.E254*; 1:84662365-84662365	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1370C>A; p.A457D; 1:84655851-84655851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.219G>T; p.L73F; 1:84669888-84669888	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1631C>T; p.S544L; 1:84650401-84650401	skin	malignant_melanoma	Substitution - Missense
c.138G>A; p.S46S; 1:84670721-84670721	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]