| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1912 |
Name | PHC2 |
Synonymous | polyhomeotic homolog 2 (Drosophila);PHC2;polyhomeotic homolog 2 (Drosophila) |
Definition | early development regulator 2 (homolog of polyhomeotic 2)|early development regulatory protein 2|polyhomeotic 2|polyhomeotic-like 2|polyhomeotic-like protein 2 |
Position | 1p34.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.828T>C; p.P276P; 1:33367264-33367264 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1756C>T; p.P586S; 1:33334092-33334092 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1254C>T; p.G418G; 1:33354976-33354976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1854C>T; p.T618T; 1:33332309-33332309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1936G>T; p.G646C; 1:33331415-33331415 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.209C>T; p.T70M; 1:33372413-33372413 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2250G>C; p.L750F; 1:33329042-33329042 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.276G>A; p.A92A; 1:33372346-33372346 |
breast | carcinoma | Substitution - coding silent |
c.516C>T; p.G172G; 1:33370481-33370481 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.6G>C; p.E2D; 1:33375534-33375534 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2153G>T; p.G718V; 1:33329139-33329139 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.6G>C; p.E2D; 1:33375534-33375534 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1985C>T; p.S662F; 1:33331366-33331366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2393A>G; p.D798G; 1:33328899-33328899 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1758+2T>A; p.?; 1:33334088-33334088 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.2329C>T; p.R777W; 1:33328963-33328963 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1041A>T; p.Q347H; 1:33355189-33355189 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1940G>A; p.R647Q; 1:33331411-33331411 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1927G>A; p.E643K; 1:33331424-33331424 |
breast | carcinoma | Substitution - Missense |
c.2011G>T; p.V671L; 1:33330205-33330205 |
breast | carcinoma | Substitution - Missense |
c.235T>C; p.Y79H; 1:33372387-33372387 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2130G>T; p.K710N; 1:33330086-33330086 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.664-1G>A; p.?; 1:33367429-33367429 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.615G>A; p.Q205Q; 1:33368584-33368584 |
ovary | other; neoplasm | Substitution - coding silent |
c.118C>T; p.P40S; 1:33375422-33375422 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1928A>C; p.E643A; 1:33331423-33331423 |
breast | carcinoma | Substitution - Missense |
c.1082C>A; p.P361Q; 1:33355148-33355148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.387G>T; p.A129A; 1:33371041-33371041 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.174+5G>T; p.?; 1:33375361-33375361 |
pancreas | carcinoma | Unknown |
c.1423G>A; p.V475M; 1:33354533-33354533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765C>T; p.R589C; 1:33332398-33332398 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765C>T; p.R589C; 1:33332398-33332398 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765C>T; p.R589C; 1:33332398-33332398 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2282G>C; p.R761P; 1:33329010-33329010 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.942T>A; p.V314V; 1:33367150-33367150 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.942T>A; p.V314V; 1:33367150-33367150 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2282G>C; p.R761P; 1:33329010-33329010 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.347C>A; p.S116Y; 1:33371081-33371081 |
liver | carcinoma | Substitution - Missense |
c.347C>A; p.S116Y; 1:33371081-33371081 |
liver | carcinoma | Substitution - Missense |
c.1931T>G; p.L644R; 1:33331420-33331420 |
skin | malignant_melanoma | Substitution - Missense |
c.2463C>A; p.I821I; 1:33324979-33324979 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.961C>T; p.P321S; 1:33367131-33367131 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1719C>T; p.I573I; 1:33334129-33334129 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1719C>T; p.I573I; 1:33334129-33334129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2028G>C; p.R676R; 1:33330188-33330188 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2168C>T; p.S723L; 1:33329124-33329124 |
pancreas | carcinoma | Substitution - Missense |
c.1542G>A; p.P514P; 1:33354414-33354414 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1709C>T; p.T570M; 1:33334139-33334139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2168C>T; p.S723L; 1:33329124-33329124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2407A>G; p.I803V; 1:33328885-33328885 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>T; p.A129V; 1:33371042-33371042 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.427T>C; p.S143P; 1:33370570-33370570 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1092G>A; p.Q364Q; 1:33355138-33355138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.610G>C; p.V204L; 1:33368589-33368589 |
breast | carcinoma | Substitution - Missense |
c.2534C>T; p.A845V; 1:33324908-33324908 |
skin | malignant_melanoma | Substitution - Missense |
c.2248T>C; p.L750L; 1:33329044-33329044 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.270C>T; p.T90T; 1:33372352-33372352 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.831A>G; p.A277A; 1:33367261-33367261 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.760C>T; p.P254S; 1:33367332-33367332 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.760C>T; p.P254S; 1:33367332-33367332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.169G>A; p.V57M; 1:33375371-33375371 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.169G>A; p.V57M; 1:33375371-33375371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1474C>T; p.H492Y; 1:33354482-33354482 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1540C>T; p.P514S; 1:33354416-33354416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.210G>A; p.T70T; 1:33372412-33372412 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1671T>A; p.N557K; 1:33334177-33334177 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2494G>T; p.D832Y; 1:33324948-33324948 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.210G>A; p.T70T; 1:33372412-33372412 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2467G>C; p.G823R; 1:33324975-33324975 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.958C>T; p.H320Y; 1:33367134-33367134 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1994G>A; p.C665Y; 1:33331357-33331357 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.236A>G; p.Y79C; 1:33372386-33372386 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299G>C; p.Q433H; 1:33354931-33354931 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.771C>T; p.G257G; 1:33367321-33367321 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.771C>T; p.G257G; 1:33367321-33367321 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1620C>T; p.N540N; 1:33334228-33334228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.573G>A; p.Q191Q; 1:33370424-33370424 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.115C>T; p.R39C; 1:33375425-33375425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.193C>T; p.H65Y; 1:33372429-33372429 |
liver | carcinoma | Substitution - Missense |
c.193C>T; p.H65Y; 1:33372429-33372429 |
liver | carcinoma | Substitution - Missense |
c.1910C>T; p.P637L; 1:33331441-33331441 |
skin | malignant_melanoma | Substitution - Missense |
c.2449C>T; p.R817C; 1:33324993-33324993 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2078C>T; p.A693V; 1:33330138-33330138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2078C>T; p.A693V; 1:33330138-33330138 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357G>A; p.A453T; 1:33354873-33354873 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2298G>T; p.Q766H; 1:33328994-33328994 |
prostate | carcinoma | Substitution - Missense |
c.37A>G; p.S13G; 1:33375503-33375503 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.241G>A; p.A81T; 1:33372381-33372381 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1908delT; p.L638fs*93; 1:33331443-33331443 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2079G>A; p.A693A; 1:33330137-33330137 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.32C>A; p.S11Y; 1:33375508-33375508 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1344C>G; p.F448L; 1:33354886-33354886 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2466C>G; p.D822E; 1:33324976-33324976 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2533G>A; p.A845T; 1:33324909-33324909 |
liver | carcinoma | Substitution - Missense |
c.2533G>A; p.A845T; 1:33324909-33324909 |
liver | carcinoma | Substitution - Missense |
c.1814_1815insGGGTT; p.F605fs*128; 1:33332348-33332349 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2496C>G; p.D832E; 1:33324946-33324946 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.818A>G; p.Q273R; 1:33367274-33367274 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2547C>T; p.Y849Y; 1:33324895-33324895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2547C>T; p.Y849Y; 1:33324895-33324895 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.325G>A; p.V109I; 1:33372297-33372297 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.201G>A; p.Q67Q; 1:33372421-33372421 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1152C>T; p.S384S; 1:33355078-33355078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1759-7C>G; p.?; 1:33332411-33332411 |
liver | carcinoma | Unknown |
c.1966C>T; p.R656C; 1:33331385-33331385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1152C>T; p.S384S; 1:33355078-33355078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1759-7C>G; p.?; 1:33332411-33332411 |
liver | carcinoma | Unknown |
c.917G>A; p.G306D; 1:33367175-33367175 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1880A>G; p.Y627C; 1:33332283-33332283 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2325T>C; p.H775H; 1:33328967-33328967 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2495A>T; p.D832V; 1:33324947-33324947 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2260T>G; p.S754A; 1:33329032-33329032 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2275A>C; p.T759P; 1:33329017-33329017 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.237C>T; p.Y79Y; 1:33372385-33372385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1722A>C; p.E574D; 1:33334126-33334126 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>A; p.P132P; 1:33371032-33371032 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2501T>C; p.L834P; 1:33324941-33324941 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2040C>T; p.F680F; 1:33330176-33330176 |
skin | malignant_melanoma | Substitution - coding silent |
c.1566G>C; p.Q522H; 1:33334282-33334282 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1524G>A; p.T508T; 1:33354432-33354432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2040C>T; p.F680F; 1:33330176-33330176 |
skin | malignant_melanoma | Substitution - coding silent |
c.892A>C; p.S298R; 1:33367200-33367200 |
skin | malignant_melanoma | Substitution - Missense |
c.2246C>G; p.P749R; 1:33329046-33329046 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1815C>T; p.F605F; 1:33332348-33332348 |
skin | malignant_melanoma | Substitution - coding silent |
c.584T>C; p.F195S; 1:33368615-33368615 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276C>A; p.T759N; 1:33329016-33329016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.375C>T; p.S125S; 1:33371053-33371053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.162G>A; p.R54R; 1:33375378-33375378 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.63C>T; p.S21S; 1:33375477-33375477 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.481G>A; p.A161T; 1:33370516-33370516 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.481G>A; p.A161T; 1:33370516-33370516 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.130C>A; p.Q44K; 1:33375410-33375410 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2095C>T; p.R699W; 1:33330121-33330121 |
breast | carcinoma | Substitution - Missense |
c.2095C>T; p.R699W; 1:33330121-33330121 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1862C>T; p.S621L; 1:33332301-33332301 |
breast | carcinoma | Substitution - Missense |
c.1912delC; p.L638fs*93; 1:33331439-33331439 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1704C>T; p.I568I; 1:33334144-33334144 |
skin | malignant_melanoma | Substitution - coding silent |
c.2497C>A; p.H833N; 1:33324945-33324945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1217C>A; p.P406Q; 1:33355013-33355013 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1683G>T; p.Q561H; 1:33334165-33334165 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034A>G; p.G678G; 1:33330182-33330182 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1683G>T; p.Q561H; 1:33334165-33334165 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.562C>T; p.L188L; 1:33370435-33370435 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.355C>A; p.Q119K; 1:33371073-33371073 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.355C>A; p.Q119K; 1:33371073-33371073 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.271G>A; p.A91T; 1:33372351-33372351 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2538G>A; p.L846L; 1:33324904-33324904 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2538G>A; p.L846L; 1:33324904-33324904 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1398G>T; p.Q466H; 1:33354558-33354558 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1556-7C>T; p.?; 1:33334299-33334299 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1437G>A; p.E479E; 1:33354519-33354519 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1909C>T; p.P637S; 1:33331442-33331442 |
skin | malignant_melanoma | Substitution - Missense |
c.168C>T; p.T56T; 1:33375372-33375372 |
skin | malignant_melanoma | Substitution - coding silent |
c.2299C>T; p.R767W; 1:33328993-33328993 |
ovary | other; neoplasm | Substitution - Missense |
c.2158G>A; p.V720M; 1:33329134-33329134 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1820C>T; p.P607L; 1:33332343-33332343 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.116G>A; p.R39H; 1:33375424-33375424 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.938C>T; p.T313M; 1:33367154-33367154 |
liver | carcinoma | Substitution - Missense |