Entrez Gene

Basic Information
Gene ID	1911
Name	PHC1
Synonymous	polyhomeotic homolog 1 (Drosophila);PHC1;polyhomeotic homolog 1 (Drosophila)
Definition	early development regulator 1 (homolog of polyhomeotic 1)\|early development regulatory protein 1\|polyhomeotic-like 1\|polyhomeotic-like protein 1
Position	12p13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.415T>C; p.S139P; 12:8921709-8921709	thyroid	other; neoplasm	Substitution - Missense
c.36C>A; p.T12T; 12:8917713-8917713	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.2648G>A; p.R883Q; 12:8937848-8937848	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2576G>A; p.R859H; 12:8937274-8937274	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>G; p.R152G; 12:8921748-8921748	skin	malignant_melanoma	Substitution - Missense
c.1066A>T; p.T356S; 12:8930888-8930888	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1066A>T; p.T356S; 12:8930888-8930888	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.373G>C; p.A125P; 12:8921667-8921667	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1749G>A; p.Q583Q; 12:8933206-8933206	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1383T>G; p.P461P; 12:8932840-8932840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1123C>A; p.Q375K; 12:8932580-8932580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.481G>T; p.V161L; 12:8922657-8922657	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2554C>T; p.R852C; 12:8937252-8937252	ovary	other; neoplasm	Substitution - Missense
c.2156T>C; p.M719T; 12:8934381-8934381	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1838C>G; p.S613*; 12:8933295-8933295	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.746C>T; p.A249V; 12:8930568-8930568	thyroid	other; neoplasm	Substitution - Missense
c.438G>A; p.Q146Q; 12:8921732-8921732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.426C>A; p.L142L; 12:8921720-8921720	skin	malignant_melanoma	Substitution - coding silent
c.301G>A; p.A101T; 12:8921060-8921060	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.345C>G; p.S115R; 12:8921639-8921639	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1105+1G>T; p.?; 12:8930928-8930928	lung	carcinoma; adenocarcinoma	Unknown
c.2895G>T; p.Q965H; 12:8939339-8939339	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1221C>T; p.F407F; 12:8932678-8932678	skin	malignant_melanoma	Substitution - coding silent
c.1978C>T; p.P660S; 12:8933949-8933949	skin	malignant_melanoma	Substitution - Missense
c.487C>T; p.R163*; 12:8922663-8922663	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2400C>T; p.C800C; 12:8936887-8936887	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2600G>A; p.R867H; 12:8937298-8937298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2600G>A; p.R867H; 12:8937298-8937298	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.246G>A; p.R82R; 12:8921005-8921005	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1165C>T; p.Q389*; 12:8932622-8932622	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1165C>T; p.Q389*; 12:8932622-8932622	liver	carcinoma	Substitution - Nonsense
c.2579G>A; p.R860H; 12:8937277-8937277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2221T>A; p.F741I; 12:8934446-8934446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1956C>T; p.V652V; 12:8933927-8933927	skin	malignant_melanoma	Substitution - coding silent
c.623T>C; p.L208S; 12:8930445-8930445	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.427A>G; p.N143D; 12:8921721-8921721	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2469C>T; p.C823C; 12:8936956-8936956	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2281T>C; p.S761P; 12:8935151-8935151	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2469C>T; p.C823C; 12:8936956-8936956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2507G>A; p.R836Q; 12:8937205-8937205	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.748G>T; p.V250L; 12:8930570-8930570	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.748G>T; p.V250L; 12:8930570-8930570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.748G>T; p.V250L; 12:8930570-8930570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.748G>T; p.V250L; 12:8930570-8930570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.595C>T; p.H199Y; 12:8922771-8922771	skin; leg	malignant_melanoma	Substitution - Missense
c.595C>T; p.H199Y; 12:8922771-8922771	skin; leg	malignant_melanoma	Substitution - Missense
c.1912G>T; p.A638S; 12:8933883-8933883	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2666G>T; p.S889I; 12:8937866-8937866	urinary_tract; bladder	carcinoma	Substitution - Missense
c.863A>G; p.H288R; 12:8930685-8930685	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.399A>T; p.L133L; 12:8921693-8921693	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2660A>C; p.N887T; 12:8937860-8937860	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2660A>C; p.N887T; 12:8937860-8937860	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2194C>A; p.Q732K; 12:8934419-8934419	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.V186V; 12:8922734-8922734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2162A>G; p.D721G; 12:8934387-8934387	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2561G>A; p.R854H; 12:8937259-8937259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.906G>A; p.G302G; 12:8930728-8930728	skin	malignant_melanoma	Substitution - coding silent
c.1852C>G; p.Q618E; 12:8933309-8933309	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2185G>A; p.V729M; 12:8934410-8934410	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2648delG; p.G884fs*21; 12:8937848-8937848	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2321C>G; p.T774S; 12:8935191-8935191	liver	carcinoma	Substitution - Missense
c.454C>T; p.R152W; 12:8921748-8921748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2015T>C; p.V672A; 12:8933986-8933986	pancreas	carcinoma	Substitution - Missense
c.133C>T; p.R45W; 12:8919774-8919774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.225+5G>A; p.?; 12:8919871-8919871	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.65C>G; p.S22C; 12:8917742-8917742	breast	carcinoma	Substitution - Missense
c.2425G>A; p.A809T; 12:8936912-8936912	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.918A>G; p.R306R; 12:8930740-8930740	thyroid	other; neoplasm	Substitution - coding silent
c.918A>G; p.R306R; 12:8930740-8930740	thyroid	other; neoplasm	Substitution - coding silent
c.918A>G; p.R306R; 12:8930740-8930740	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.918A>G; p.R306R; 12:8930740-8930740	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.918A>G; p.R306R; 12:8930740-8930740	thyroid	other; neoplasm	Substitution - coding silent
c.2253+1G>A; p.?; 12:8934479-8934479	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.918A>G; p.R306R; 12:8930740-8930740	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.118C>T; p.L40L; 12:8919759-8919759	skin	malignant_melanoma	Substitution - coding silent
c.1537_1548del12; p.K514_A517delKMSA; 12:8932994-8933005	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.1941_1953del13; p.E648fs*15; 12:8933912-8933924	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1941_1953del13; p.E648fs*15; 12:8933912-8933924	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2256G>T; p.V752V; 12:8935126-8935126	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.316G>A; p.A106T; 12:8921610-8921610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2510T>C; p.L837P; 12:8937208-8937208	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2610T>G; p.I870M; 12:8937308-8937308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2635G>T; p.E879*; 12:8937835-8937835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.236C>G; p.A79G; 12:8920995-8920995	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2419G>A; p.A807T; 12:8936906-8936906	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2416T>A; p.Y806N; 12:8936903-8936903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1893G>A; p.P631P; 12:8933350-8933350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1028G>A; p.G343E; 12:8930850-8930850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.418_419CC>TT; p.P140L; 12:8921712-8921713	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.331G>A; p.A111T; 12:8921625-8921625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1064G>A; p.R355Q; 12:8930886-8930886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2013A>C; p.K671N; 12:8933984-8933984	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.959C>T; p.T320I; 12:8930781-8930781	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.279G>A; p.Q93Q; 12:8921038-8921038	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2385G>A; p.A795A; 12:8936872-8936872	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2417A>T; p.Y806F; 12:8936904-8936904	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2518delA; p.M842fs*1; 12:8937216-8937216	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2518delA; p.M842fs*1; 12:8937216-8937216	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2518delA; p.M842fs*1; 12:8937216-8937216	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.350C>T; p.S117F; 12:8921644-8921644	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2929G>T; p.E977*; 12:8939373-8939373	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2495G>A; p.S832N; 12:8937193-8937193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.225+6A>T; p.?; 12:8919872-8919872	liver	carcinoma	Unknown
c.282G>A; p.Q94Q; 12:8921041-8921041	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837T>C; p.S613P; 12:8933294-8933294	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>A; p.V73I; 12:8919858-8919858	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1230G>A; p.R410R; 12:8932687-8932687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837T>C; p.S613P; 12:8933294-8933294	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.42G>A; p.G14G; 12:8917719-8917719	liver	carcinoma	Substitution - coding silent
c.1254T>C; p.A418A; 12:8932711-8932711	breast	carcinoma	Substitution - coding silent
c.42G>A; p.G14G; 12:8917719-8917719	liver	carcinoma	Substitution - coding silent
c.15C>T; p.S5S; 12:8917692-8917692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.157T>G; p.F53V; 12:8919798-8919798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.357T>C; p.S119S; 12:8921651-8921651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.369C>T; p.P123P; 12:8921663-8921663	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2404T>C; p.Y802H; 12:8936891-8936891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1083C>G; p.P361P; 12:8930905-8930905	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2282C>T; p.S761F; 12:8935152-8935152	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1789C>A; p.P597T; 12:8933246-8933246	urinary_tract; bladder	carcinoma	Substitution - Missense
c.499C>T; p.R167W; 12:8922675-8922675	skin	malignant_melanoma	Substitution - Missense
c.157T>C; p.F53L; 12:8919798-8919798	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2077A>C; p.T693P; 12:8934302-8934302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1272G>A; p.A424A; 12:8932729-8932729	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2475G>A; p.K825K; 12:8936962-8936962	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1287G>A; p.Q429Q; 12:8932744-8932744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287G>A; p.Q429Q; 12:8932744-8932744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2331G>A; p.Q777Q; 12:8935201-8935201	oesophagus	carcinoma	Substitution - coding silent
c.1287G>A; p.Q429Q; 12:8932744-8932744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287G>A; p.Q429Q; 12:8932744-8932744	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]