Entrez Gene

Basic Information
Gene ID	5451
Name	POU2F1
Synonymous	POU class 2 homeobox 1;POU2F1;POU class 2 homeobox 1
Definition	NF-A1\|OTF-1\|Octamer-binding transcription factor-1\|POU domain, class 2, transcription factor 1\|oct-1\|octamer-binding protein 1\|octamer-binding transcription factor 1
Position	1q24.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1479_1482delCCTC; p.P495fs*1; 1:167401513-167401516	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.714G>T; p.T238T; 1:167383885-167383885	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1070T>A; p.L357H; 1:167396401-167396401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.459C>T; p.S153S; 1:167374197-167374197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1658G>A; p.S553N; 1:167412094-167412094	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2166C>T; p.H722H; 1:167415708-167415708	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2166C>T; p.H722H; 1:167415708-167415708	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.35G>C; p.R12T; 1:167332476-167332476	breast	carcinoma	Substitution - Missense
c.1926A>G; p.L642L; 1:167413083-167413083	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1462C>A; p.L488I; 1:167401496-167401496	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1402A>G; p.S468G; 1:167399351-167399351	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1508A>T; p.N503I; 1:167401542-167401542	liver	carcinoma	Substitution - Missense
c.1862C>T; p.A621V; 1:167412298-167412298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.94G>A; p.G32S; 1:167332535-167332535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.931C>T; p.R311*; 1:167389738-167389738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.422A>T; p.Q141L; 1:167374160-167374160	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.335delC; p.Q113fs*4; 1:167372002-167372002	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1231T>G; p.L411V; 1:167398128-167398128	breast	carcinoma	Substitution - Missense
c.89A>G; p.N30S; 1:167332530-167332530	skin; back	malignant_melanoma	Substitution - Missense
c.531C>T; p.P177P; 1:167374269-167374269	skin	malignant_melanoma	Substitution - coding silent
c.853C>T; p.R285*; 1:167389660-167389660	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.853C>T; p.R285*; 1:167389660-167389660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2237_2239delCCA; p.T750delT; 1:167415779-167415781	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.2237_2239delCCA; p.T750delT; 1:167415779-167415781	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.1306C>T; p.R436C; 1:167399255-167399255	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1202A>G; p.N401S; 1:167398099-167398099	thyroid	carcinoma	Substitution - Missense
c.1615T>C; p.S539P; 1:167412051-167412051	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1207C>T; p.R403C; 1:167398104-167398104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1883G>A; p.S628N; 1:167413040-167413040	kidney	other; neoplasm	Substitution - Missense
c.1429C>A; p.P477T; 1:167401463-167401463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1910C>G; p.A637G; 1:167413067-167413067	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1691C>T; p.P564L; 1:167412127-167412127	skin	malignant_melanoma	Substitution - Missense
c.514C>G; p.P172A; 1:167374252-167374252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1722G>A; p.V574V; 1:167412158-167412158	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1075G>C; p.E359Q; 1:167396406-167396406	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1639T>C; p.S547P; 1:167412075-167412075	breast	carcinoma	Substitution - Missense
c.455_457delACT; p.H152_S153>P; 1:167374193-167374195	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Complex - deletion inframe
c.1650C>G; p.S550S; 1:167412086-167412086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.130C>A; p.P44T; 1:167365502-167365502	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.817A>G; p.I273V; 1:167389624-167389624	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.360G>T; p.Q120H; 1:167372027-167372027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.269C>T; p.S90L; 1:167371936-167371936	skin	malignant_melanoma	Substitution - Missense
c.269C>T; p.S90L; 1:167371936-167371936	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1916G>A; p.S639N; 1:167413073-167413073	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1432A>G; p.S478G; 1:167401466-167401466	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1208G>A; p.R403H; 1:167398105-167398105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>A; p.P96T; 1:167371953-167371953	prostate	adenoma	Substitution - Missense
c.1169G>A; p.R390H; 1:167398066-167398066	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.369+3A>G; p.?; 1:167372039-167372039	liver	carcinoma	Unknown
c.369+3A>G; p.?; 1:167372039-167372039	liver	carcinoma	Unknown
c.2180C>A; p.S727Y; 1:167415722-167415722	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.735A>G; p.Q245Q; 1:167383906-167383906	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.434T>A; p.L145Q; 1:167374172-167374172	kidney	other; neoplasm	Substitution - Missense
c.2235G>A; p.A745A; 1:167415777-167415777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.767C>T; p.T256I; 1:167383938-167383938	skin; scalp	malignant_melanoma	Substitution - Missense
c.1753delG; p.A585fs*26; 1:167412189-167412189	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.498C>T; p.S166S; 1:167374236-167374236	skin	malignant_melanoma	Substitution - coding silent
c.1240C>G; p.Q414E; 1:167399189-167399189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.978G>A; p.G326G; 1:167396309-167396309	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.925C>G; p.Q309E; 1:167389732-167389732	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1168C>T; p.R390C; 1:167398065-167398065	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1237-1G>A; p.?; 1:167399185-167399185	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.932G>A; p.R311Q; 1:167389739-167389739	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2042A>G; p.N681S; 1:167415584-167415584	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.91A>G; p.T31A; 1:167332532-167332532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1281G>T; p.Q427H; 1:167399230-167399230	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1536C>T; p.T512T; 1:167411972-167411972	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1536C>T; p.T512T; 1:167411972-167411972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.381G>A; p.T127T; 1:167374119-167374119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.204C>T; p.L68L; 1:167370169-167370169	skin	malignant_melanoma	Substitution - coding silent
c.529C>T; p.P177S; 1:167374267-167374267	skin; nipple	malignant_melanoma	Substitution - Missense
c.1097-1G>A; p.?; 1:167397993-167397993	urinary_tract; bladder	carcinoma	Unknown
c.2174delC; p.T726fs*>30; 1:167415716-167415716	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; non_functioning	Deletion - Frameshift
c.854G>A; p.R285Q; 1:167389661-167389661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.153C>G; p.I51M; 1:167365525-167365525	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.500C>G; p.A167G; 1:167374238-167374238	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1019G>A; p.R340Q; 1:167396350-167396350	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1294A>C; p.K432Q; 1:167399243-167399243	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1502T>A; p.V501E; 1:167401536-167401536	liver	carcinoma	Substitution - Missense
c.1502T>A; p.V501E; 1:167401536-167401536	liver	carcinoma	Substitution - Missense
c.1906G>A; p.G636S; 1:167413063-167413063	breast	carcinoma	Substitution - Missense
c.1757C>T; p.A586V; 1:167412193-167412193	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.516C>A; p.P172P; 1:167374254-167374254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2164C>G; p.H722D; 1:167415706-167415706	central_nervous_system; brain	glioma	Substitution - Missense
c.1612C>T; p.P538S; 1:167412048-167412048	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1675delC; p.Q559fs*16; 1:167412111-167412111	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1059G>T; p.K353N; 1:167396390-167396390	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.699G>A; p.A233A; 1:167383870-167383870	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.299C>T; p.S100F; 1:167371966-167371966	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2248A>G; p.T750A; 1:167415790-167415790	skin	malignant_melanoma	Substitution - Missense
c.1900C>A; p.L634M; 1:167413057-167413057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.969C>T; p.L323L; 1:167396300-167396300	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1394delT; p.F466fs*15; 1:167399343-167399343	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.237T>G; p.S79S; 1:167370202-167370202	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1081T>C; p.W361R; 1:167396412-167396412	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.785_790delCAACCC; p.P264_T265delPT; 1:167389592-167389597	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.785_790delCAACCC; p.P264_T265delPT; 1:167389592-167389597	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.79G>A; p.G27R; 1:167332520-167332520	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.460G>C; p.A154P; 1:167374198-167374198	breast	carcinoma	Substitution - Missense
c.1452A>G; p.A484A; 1:167401486-167401486	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.518T>C; p.M173T; 1:167374256-167374256	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1471A>G; p.S491G; 1:167401505-167401505	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.615G>T; p.V205V; 1:167376085-167376085	liver	carcinoma	Substitution - coding silent
c.1960C>T; p.L654F; 1:167415502-167415502	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.615G>T; p.V205V; 1:167376085-167376085	liver	carcinoma	Substitution - coding silent
c.1960C>T; p.L654F; 1:167415502-167415502	skin; extremity	malignant_melanoma	Substitution - Missense
c.1940C>T; p.T647I; 1:167413097-167413097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1475C>T; p.P492L; 1:167401509-167401509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1090G>A; p.D364N; 1:167396421-167396421	pancreas	carcinoma	Substitution - Missense
c.1755A>T; p.A585A; 1:167412191-167412191	prostate	carcinoma	Substitution - coding silent
c.686-2A>T; p.?; 1:167383855-167383855	lung	carcinoma; adenocarcinoma	Unknown
c.369+1G>C; p.?; 1:167372037-167372037	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1899C>A; p.T633T; 1:167413056-167413056	breast	carcinoma	Substitution - coding silent
c.562C>T; p.L188F; 1:167376032-167376032	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1505C>A; p.T502K; 1:167401539-167401539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.251C>T; p.S84F; 1:167371918-167371918	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1881C>A; p.L627L; 1:167413038-167413038	kidney	other; neoplasm	Substitution - coding silent
c.464G>T; p.S155I; 1:167374202-167374202	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1156G>C; p.E386Q; 1:167398053-167398053	lung	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]