Entrez Gene

Basic Information
Gene ID	25803
Name	SPDEF

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.685T>C; p.S229P; 6:34539394-34539394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.73C>A; p.R25R; 6:34544383-34544383	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.154G>A; p.E52K; 6:34544302-34544302	breast	carcinoma	Substitution - Missense
c.513G>A; p.M171I; 6:34541105-34541105	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.588C>T; p.P196P; 6:34541030-34541030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.160G>A; p.G54S; 6:34544296-34544296	skin	malignant_melanoma	Substitution - Missense
c.38C>G; p.P13R; 6:34544418-34544418	thyroid	other; neoplasm	Substitution - Missense
c.109G>A; p.G37S; 6:34544347-34544347	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>G; p.P13R; 6:34544418-34544418	urinary_tract; bladder	carcinoma	Substitution - Missense
c.399C>T; p.D133D; 6:34544057-34544057	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - coding silent
c.572T>C; p.F191S; 6:34541046-34541046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>T; p.S61F; 6:34544274-34544274	skin	malignant_melanoma	Substitution - Missense
c.543G>A; p.K181K; 6:34541075-34541075	skin	malignant_melanoma	Substitution - coding silent
c.543G>A; p.K181K; 6:34541075-34541075	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.847G>C; p.D283H; 6:34538435-34538435	skin	malignant_melanoma	Substitution - Missense
c.847G>C; p.D283H; 6:34538435-34538435	skin	malignant_melanoma	Substitution - Missense
c.923C>T; p.S308F; 6:34538359-34538359	skin	malignant_melanoma	Substitution - Missense
c.483G>A; p.W161*; 6:34541135-34541135	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.361C>A; p.Q121K; 6:34544095-34544095	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.682G>A; p.A228T; 6:34539515-34539515	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.895G>A; p.A299T; 6:34538387-34538387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65C>T; p.T22M; 6:34544391-34544391	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>G; p.P147R; 6:34541178-34541178	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.440C>G; p.P147R; 6:34541178-34541178	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.769G>A; p.E257K; 6:34539310-34539310	skin	malignant_melanoma	Substitution - Missense
c.982G>A; p.V328I; 6:34538300-34538300	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.9C>T; p.S3S; 6:34544447-34544447	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.9C>T; p.S3S; 6:34544447-34544447	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.150G>A; p.T50T; 6:34544306-34544306	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.592G>A; p.G198S; 6:34541026-34541026	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.144C>T; p.P48P; 6:34544312-34544312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.90G>T; p.K30N; 6:34544366-34544366	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.372C>T; p.S124S; 6:34544084-34544084	skin	malignant_melanoma	Substitution - coding silent
c.159G>T; p.Q53H; 6:34544297-34544297	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.928C>T; p.R310C; 6:34538354-34538354	breast	carcinoma	Substitution - Missense
c.792C>A; p.S264R; 6:34539287-34539287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74G>A; p.R25Q; 6:34544382-34544382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.439C>T; p.P147S; 6:34541179-34541179	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.61G>A; p.D21N; 6:34544395-34544395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.405G>T; p.E135D; 6:34544051-34544051	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.403G>A; p.E135K; 6:34544053-34544053	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.E135K; 6:34544053-34544053	skin	malignant_melanoma	Substitution - Missense
c.168C>T; p.S56S; 6:34544288-34544288	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.561G>A; p.S187S; 6:34541057-34541057	skin	malignant_melanoma	Substitution - coding silent
c.561G>A; p.S187S; 6:34541057-34541057	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.31G>A; p.V11I; 6:34544425-34544425	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.179T>C; p.L60P; 6:34544277-34544277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.981C>T; p.L327L; 6:34538301-34538301	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.555C>A; p.A185A; 6:34541063-34541063	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.799C>T; p.R267C; 6:34539280-34539280	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.433G>A; p.A145T; 6:34544023-34544023	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.216C>A; p.S72R; 6:34544240-34544240	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.48C>G; p.L16L; 6:34544408-34544408	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.635-9G>T; p.?; 6:34539571-34539571	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.635-9G>T; p.?; 6:34539571-34539571	liver	carcinoma	Unknown
c.306G>A; p.A102A; 6:34544150-34544150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.956G>T; p.R319L; 6:34538326-34538326	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.686C>T; p.S229L; 6:34539393-34539393	skin	malignant_melanoma	Substitution - Missense
c.311G>A; p.S104N; 6:34544145-34544145	skin	malignant_melanoma	Substitution - Missense
c.900G>A; p.M300I; 6:34538382-34538382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157C>A; p.Q53K; 6:34544299-34544299	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.405G>A; p.E135E; 6:34544051-34544051	skin	malignant_melanoma	Substitution - coding silent
c.114C>T; p.L38L; 6:34544342-34544342	skin	malignant_melanoma	Substitution - coding silent
c.141A>C; p.P47P; 6:34544315-34544315	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.350A>G; p.H117R; 6:34544106-34544106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.865C>T; p.R289W; 6:34538417-34538417	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.103delG; p.A35fs*78; 6:34544353-34544353	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.505C>G; p.P169A; 6:34541113-34541113	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.478C>T; p.L160L; 6:34541140-34541140	central_nervous_system; brain	glioma	Substitution - coding silent
c.41G>T; p.S14I; 6:34544415-34544415	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.41G>T; p.S14I; 6:34544415-34544415	urinary_tract; bladder	carcinoma	Substitution - Missense
c.121C>T; p.R41W; 6:34544335-34544335	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.73C>T; p.R25W; 6:34544383-34544383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.881G>A; p.R294H; 6:34538401-34538401	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.73C>T; p.R25W; 6:34544383-34544383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.794A>G; p.Y265C; 6:34539285-34539285	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.589C>T; p.L197L; 6:34541029-34541029	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.565G>T; p.E189*; 6:34541053-34541053	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.449G>A; p.W150*; 6:34541169-34541169	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.289G>C; p.D97H; 6:34544167-34544167	breast	carcinoma	Substitution - Missense
c.330C>T; p.G110G; 6:34544126-34544126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

The somatic mutations from COSMIC database