Entrez Gene

Basic Information
Gene ID	6421
Name	SFPQ
Synonymous	splicing factor proline/glutamine-rich;SFPQ;splicing factor proline/glutamine-rich
Definition	100 kDa DNA-pairing protein\|DNA-binding p52/p100 complex, 100 kDa subunit\|PTB-associated splicing factor\|PTB-associated-splicing factor\|hPOMp100\|polypyrimidine tract binding protein associated\|polypyrimidine tract-binding protein-associated splicing facto
Position	1p34.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.84C>A; p.L28L; 1:35192966-35192966	breast	carcinoma	Substitution - coding silent
c.2028T>G; p.G676G; 1:35184552-35184552	breast	carcinoma	Substitution - coding silent
c.1151A>G; p.N384S; 1:35190862-35190862	breast	carcinoma	Substitution - Missense
c.1719_1720delAA; p.E575fs*9; 1:35188068-35188069	breast	carcinoma	Deletion - Frameshift
c.367A>G; p.S123G; 1:35192683-35192683	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.210A>G; p.Q70Q; 1:35192840-35192840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1683A>C; p.K561N; 1:35189017-35189017	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1905_1907delAGG; p.G639delG; 1:35187080-35187082	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2064A>G; p.P688P; 1:35184516-35184516	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1153G>T; p.E385*; 1:35190860-35190860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.964G>T; p.E322*; 1:35191394-35191394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1843G>A; p.G615R; 1:35187224-35187224	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1551C>T; p.D517D; 1:35189247-35189247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.111C>T; p.G37G; 1:35192939-35192939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.207G>T; p.Q69H; 1:35192843-35192843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1842C>T; p.G614G; 1:35187225-35187225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1898C>A; p.P633H; 1:35187089-35187089	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.187C>A; p.P63T; 1:35192863-35192863	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.943A>G; p.R315G; 1:35191415-35191415	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.843T>A; p.N281K; 1:35191515-35191515	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1061A>G; p.D354G; 1:35190952-35190952	kidney	other; neoplasm	Substitution - Missense
c.1332A>G; p.P444P; 1:35190581-35190581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.297G>A; p.P99P; 1:35192753-35192753	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.998G>A; p.G333E; 1:35191360-35191360	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1825_1826delGA; p.D609fs*34; 1:35187241-35187242	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1940G>A; p.G647D; 1:35187047-35187047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1317G>T; p.T439T; 1:35190696-35190696	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1199C>T; p.A400V; 1:35190814-35190814	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>T; p.A672V; 1:35184565-35184565	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>T; p.A672V; 1:35184565-35184565	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>A; p.R493Q; 1:35189320-35189320	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1478G>A; p.R493Q; 1:35189320-35189320	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1007T>G; p.F336C; 1:35191351-35191351	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1741C>T; p.R581C; 1:35188047-35188047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1711C>T; p.R571*; 1:35188077-35188077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1528A>C; p.K510Q; 1:35189270-35189270	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1796G>A; p.R599Q; 1:35187992-35187992	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1540G>A; p.D514N; 1:35189258-35189258	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1832G>A; p.R611Q; 1:35187235-35187235	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1832G>A; p.R611Q; 1:35187235-35187235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1462T>C; p.Y488H; 1:35189336-35189336	large_intestine; colon	NS	Substitution - Missense
c.1465G>A; p.E489K; 1:35189333-35189333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1465G>A; p.E489K; 1:35189333-35189333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>A; p.A464T; 1:35190523-35190523	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1020A>G; p.E340E; 1:35190993-35190993	liver	carcinoma	Substitution - coding silent
c.1822A>T; p.R608*; 1:35187245-35187245	liver	carcinoma	Substitution - Nonsense
c.1822A>T; p.R608*; 1:35187245-35187245	liver	carcinoma	Substitution - Nonsense
c.861G>T; p.R287S; 1:35191497-35191497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1939G>T; p.G647C; 1:35187048-35187048	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1972A>T; p.M658L; 1:35187015-35187015	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.P250S; 1:35192302-35192302	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2112delA; p.K704fs*>4; 1:35184468-35184468	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.887G>T; p.R296L; 1:35191471-35191471	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1861G>T; p.G621*; 1:35187206-35187206	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1562G>A; p.S521N; 1:35189236-35189236	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.878_879insA; p.Y293fs*1; 1:35191479-35191480	meninges	meningioma	Insertion - Frameshift
c.1780G>C; p.E594Q; 1:35188008-35188008	NS	NS	Substitution - Missense
c.2016G>T; p.A672A; 1:35184564-35184564	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.63A>G; p.G21G; 1:35192987-35192987	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1592_1600delAGGCAAATC; p.Q531_N533del; 1:35189198-35189206	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.1151A>C; p.N384T; 1:35190862-35190862	pancreas	carcinoma	Substitution - Missense
c.1842C>T; p.G614G; 1:35187225-35187225	prostate	carcinoma	Substitution - coding silent
c.1037A>T; p.E346V; 1:35190976-35190976	skin	malignant_melanoma	Substitution - Missense
c.1080A>T; p.R360S; 1:35190933-35190933	skin	malignant_melanoma	Substitution - Missense
c.1921G>C; p.G641R; 1:35187066-35187066	skin	malignant_melanoma	Substitution - Missense
c.1391C>T; p.A464V; 1:35190522-35190522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.781C>T; p.P261S; 1:35192269-35192269	skin; trunk	malignant_melanoma	Substitution - Missense
c.1330C>T; p.P444S; 1:35190583-35190583	skin	malignant_melanoma	Substitution - Missense
c.1956C>T; p.T652T; 1:35187031-35187031	skin	malignant_melanoma	Substitution - coding silent
c.1093C>T; p.R365C; 1:35190920-35190920	skin	malignant_melanoma	Substitution - Missense
c.1772G>A; p.R591H; 1:35188016-35188016	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>T; p.A672V; 1:35184565-35184565	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1831C>T; p.R611*; 1:35187236-35187236	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.848C>G; p.S283C; 1:35191510-35191510	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1654C>A; p.L552I; 1:35189046-35189046	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1411C>T; p.Q471*; 1:35190502-35190502	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.924C>T; p.I308I; 1:35191434-35191434	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1695G>C; p.L565F; 1:35189005-35189005	urinary_tract; bladder	carcinoma	Substitution - Missense

Oncogene database

COSMIC confirmed somatic mutation [Top]

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