Entrez Gene

Basic Information
Gene ID	80012
Name	PHC3
Synonymous	polyhomeotic homolog 3 (Drosophila);PHC3;polyhomeotic homolog 3 (Drosophila)
Definition	early development regulator 3\|early development regulatory protein 3\|homolog of polyhomeotic 3\|polyhomeotic like 3\|polyhomeotic-like protein 3
Position	3q26.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.68C>T; p.T23I; 3:170178849-170178849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.980C>T; p.P327L; 3:170129399-170129399	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.136G>A; p.A46T; 3:170178781-170178781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1576G>T; p.E526*; 3:170128803-170128803	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2474C>T; p.P825L; 3:170102836-170102836	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2257G>A; p.E753K; 3:170113363-170113363	breast	carcinoma	Substitution - Missense
c.1010A>C; p.Q337P; 3:170129369-170129369	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2375+2T>C; p.?; 3:170106830-170106830	skin	malignant_melanoma	Unknown
c.190T>C; p.Y64H; 3:170172667-170172667	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.985C>A; p.P329T; 3:170129394-170129394	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.599G>A; p.R200H; 3:170136646-170136646	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1231C>G; p.L411V; 3:170129148-170129148	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1810G>A; p.G604R; 3:170122630-170122630	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1940C>T; p.P647L; 3:170117386-170117386	skin	malignant_melanoma	Substitution - Missense
c.1362C>T; p.A454A; 3:170129017-170129017	breast	carcinoma	Substitution - coding silent
c.1691C>T; p.P564L; 3:170128688-170128688	skin	malignant_melanoma	Substitution - Missense
c.159A>G; p.A53A; 3:170172698-170172698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2601C>T; p.S867S; 3:170102618-170102618	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1288delC; p.Q430fs*2; 3:170129091-170129091	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1845G>C; p.L615F; 3:170122595-170122595	ovary	other; neoplasm	Substitution - Missense
c.2869C>T; p.R957C; 3:170097256-170097256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2182G>A; p.V728I; 3:170113438-170113438	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2461C>T; p.R821C; 3:170102849-170102849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1376G>A; p.G459D; 3:170129003-170129003	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1A>G; p.M1V; 3:170178916-170178916	liver	carcinoma	Substitution - Missense
c.2877_2889del13; p.S960fs?; 3:170097236-170097248	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1324T>C; p.S442P; 3:170129055-170129055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2280C>A; p.D760E; 3:170106927-170106927	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2366G>T; p.C789F; 3:170106841-170106841	kidney	other; neoplasm	Substitution - Missense
c.2591G>A; p.R864H; 3:170102628-170102628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1990A>T; p.S664C; 3:170117336-170117336	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519G>A; p.Q173Q; 3:170145483-170145483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.131G>A; p.R44Q; 3:170178786-170178786	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>T; p.S201I; 3:170136643-170136643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2103G>A; p.V701V; 3:170113517-170113517	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1399C>G; p.H467D; 3:170128980-170128980	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1466C>T; p.S489F; 3:170128913-170128913	skin	malignant_melanoma	Substitution - Missense
c.2811_2813delAGA; p.E937delE; 3:170097312-170097314	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2531C>T; p.A844V; 3:170102688-170102688	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.167G>A; p.R56Q; 3:170172690-170172690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2754C>T; p.I918I; 3:170097371-170097371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1163G>A; p.S388N; 3:170129216-170129216	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.495C>T; p.P165P; 3:170145507-170145507	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1611G>A; p.Q537Q; 3:170128768-170128768	liver	carcinoma	Substitution - coding silent
c.2585G>A; p.R862H; 3:170102634-170102634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.127G>T; p.D43Y; 3:170178790-170178790	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1446T>G; p.S482R; 3:170128933-170128933	liver	carcinoma	Substitution - Missense
c.1446T>G; p.S482R; 3:170128933-170128933	liver	carcinoma	Substitution - Missense
c.1825T>G; p.L609V; 3:170122615-170122615	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1432A>G; p.I478V; 3:170128947-170128947	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.990C>T; p.S330S; 3:170129389-170129389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.176G>A; p.S59N; 3:170172681-170172681	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.176G>A; p.S59N; 3:170172681-170172681	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.512_513delCT; p.A171fs*4; 3:170145489-170145490	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.854C>G; p.S285C; 3:170129525-170129525	breast	carcinoma	Substitution - Missense
c.562C>T; p.Q188*; 3:170145440-170145440	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1731G>A; p.M577I; 3:170122709-170122709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1670C>T; p.P557L; 3:170128709-170128709	skin	malignant_melanoma	Substitution - Missense
c.1817G>A; p.G606E; 3:170122623-170122623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2627G>A; p.R876Q; 3:170102592-170102592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.234G>A; p.L78L; 3:170172623-170172623	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.298C>T; p.Q100*; 3:170172559-170172559	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2787A>G; p.G929G; 3:170097338-170097338	central_nervous_system; brain	glioma	Substitution - coding silent
c.494C>T; p.P165L; 3:170145508-170145508	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1850-3C>T; p.?; 3:170117479-170117479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2253T>C; p.I751I; 3:170113367-170113367	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2275A>G; p.M759V; 3:170106932-170106932	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1849+10T>C; p.?; 3:170122581-170122581	pancreas	carcinoma	Unknown
c.1545C>A; p.G515G; 3:170128834-170128834	breast	carcinoma	Substitution - coding silent
c.2707G>C; p.D903H; 3:170102512-170102512	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2820C>G; p.L940L; 3:170097305-170097305	breast	carcinoma	Substitution - coding silent
c.1790C>T; p.S597F; 3:170122650-170122650	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1559A>G; p.Q520R; 3:170128820-170128820	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1574C>T; p.S525L; 3:170128805-170128805	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958C>A; p.L320I; 3:170129421-170129421	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1417C>A; p.L473M; 3:170128962-170128962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2809G>T; p.E937*; 3:170097316-170097316	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.125C>T; p.S42L; 3:170178792-170178792	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2219A>T; p.D740V; 3:170113401-170113401	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.59_70del12; p.T20_T23delTTTT; 3:170178847-170178858	lung	carcinoma; adenocarcinoma	Deletion - In frame
c.1558C>T; p.Q520*; 3:170128821-170128821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2487G>A; p.A829A; 3:170102823-170102823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1040A>G; p.N347S; 3:170129339-170129339	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.2376-10A>T; p.?; 3:170102944-170102944	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.899A>C; p.K300T; 3:170129480-170129480	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1757G>A; p.R586Q; 3:170122683-170122683	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.57C>A; p.T19T; 3:170178860-170178860	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.913C>T; p.Q305*; 3:170129466-170129466	breast	carcinoma	Substitution - Nonsense
c.2500C>T; p.L834F; 3:170102810-170102810	skin	malignant_melanoma	Substitution - Missense
c.979C>A; p.P327T; 3:170129400-170129400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1779_1781delACC; p.P594delP; 3:170122659-170122661	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1560G>A; p.Q520Q; 3:170128819-170128819	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.952A>G; p.I318V; 3:170129427-170129427	breast	carcinoma	Substitution - Missense
c.1560G>A; p.Q520Q; 3:170128819-170128819	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.459A>C; p.Q153H; 3:170149107-170149107	skin	malignant_melanoma	Substitution - Missense
c.1631C>G; p.P544R; 3:170128748-170128748	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.734C>T; p.P245L; 3:170136511-170136511	skin	malignant_melanoma	Substitution - Missense
c.627C>G; p.S209R; 3:170136618-170136618	breast	carcinoma	Substitution - Missense
c.2067C>T; p.G689G; 3:170117259-170117259	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2067C>T; p.G689G; 3:170117259-170117259	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2143C>A; p.R715R; 3:170113477-170113477	skin	malignant_melanoma	Substitution - coding silent
c.341G>T; p.G114V; 3:170171410-170171410	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2852C>T; p.A951V; 3:170097273-170097273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2334T>G; p.F778L; 3:170106873-170106873	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.A171V; 3:170145490-170145490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2019T>C; p.P673P; 3:170117307-170117307	central_nervous_system; brain	glioma	Substitution - coding silent
c.557C>T; p.S186F; 3:170145445-170145445	skin	malignant_melanoma	Substitution - Missense
c.1436C>T; p.P479L; 3:170128943-170128943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]