| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5097 |
Name | PCDH1 |
Synonymous | PC42|PCDH42;protocadherin 1;PCDH1;protocadherin 1 |
Definition | cadherin-like 1|cadherin-like protein 1|protocadherin 42|protocadherin-1|protocadherin-42 |
Position | 5q31.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for PCDH1 | ||
PCGP somatic mutation [Top] | ||
There is no record for PCDH1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.862G>A; p.E288K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2366G>A; p.R789H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1743G>T; p.K581N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1363_1365delAAG; p.K455delK; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2389C>T; p.R797C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2084G>A; p.R695H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3698G>A; p.R1233H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.742C>A; p.L248I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3325C>T; p.R1109C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.3108C>T; p.H1036H; |
liver | carcinoma |
c.170C>A; p.A57D; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.982C>T; p.R328C; |
eye; uveal_tract | malignant_melanoma; spindle |
c.3233G>T; p.R1078L; |
lung | carcinoma; adenocarcinoma |
c.424G>A; p.D142N; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.781G>A; p.A261T; |
oesophagus | carcinoma; adenocarcinoma |
c.3334C>T; p.P1112S; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.3477G>A; p.Q1159Q; |
liver | carcinoma |
c.566T>A; p.I189N; |
large_intestine; colon | carcinoma |
c.524T>C; p.L175P; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.3507C>T; p.A1169A; |
skin; trunk | malignant_melanoma; nodular |
c.147G>C; p.L49L; |
lung | carcinoma; adenocarcinoma |
c.3431G>A; p.R1144Q; |
lung | carcinoma; adenocarcinoma |
c.3533G>T; p.R1178L; |
lung | carcinoma; adenocarcinoma |
c.2634A>T; p.R878S; |
lung | carcinoma; adenocarcinoma |
c.2205G>C; p.T735T; |
lung | carcinoma; adenocarcinoma |
c.420C>T; p.I140I; |
pancreas | carcinoma; ductal_carcinoma |
c.2178G>A; p.L726L; |
breast | carcinoma |
c.1740G>C; p.L580F; |
breast | carcinoma |
c.284G>A; p.G95D; |
lung | carcinoma; small_cell_carcinoma |
c.3035C>T; p.T1012M; |
lung | carcinoma; small_cell_carcinoma |
c.1108C>T; p.R370C; 5:141224972-141224972 |
ovary | carcinoma; serous_carcinoma |
c.3167A>T; p.H1056L; |
lung | carcinoma; adenocarcinoma |
c.628G>T; p.G210W; |
lung | carcinoma; adenocarcinoma |
c.714G>A; p.L238L; 5:141228507-141228507 |
ovary | carcinoma; serous_carcinoma |
c.2234A>T; p.D745V; 5:141223846-141223846 |
ovary | carcinoma; serous_carcinoma |
c.1092C>T; p.T364T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2722G>A; p.G908R; |
lung | carcinoma; squamous_cell_carcinoma |
c.2798T>A; p.L933Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.2520G>C; p.G840G; 5:141223560-141223560 |
ovary | carcinoma; serous_carcinoma |
c.601G>A; p.G201S; 5:141228620-141228620 |
ovary | carcinoma; serous_carcinoma |
c.2643G>T; p.E881D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1108C>T; p.R370C; 5:141224972-141224972 |
lung | carcinoma; squamous_cell_carcinoma |
c.3650C>T; p.S1217L; |
lung | carcinoma; adenocarcinoma |
c.3283G>C; p.D1095H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1214C>G; p.S405*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2665G>C; p.G889R; |
ovary | carcinoma; serous_carcinoma |
c.1964A>G; p.N655S; |
ovary | carcinoma; serous_carcinoma |
c.1373T>G; p.L458R; |
lung | carcinoma; adenocarcinoma |
c.784A>T; p.S262C; |
lung | carcinoma; adenocarcinoma |
c.1635G>T; p.L545L; |
lung | carcinoma; adenocarcinoma |
c.402G>A; p.L134L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3582C>G; p.F1194L; |
lung | carcinoma; adenocarcinoma |
c.3068G>T; p.R1023L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1771A>T; p.S591C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.231C>T; p.L77L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1155C>T; p.P385P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1677C>T; p.P559P; |
lung | carcinoma; adenocarcinoma |
c.3233G>T; p.R1078L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2648A>G; p.K883R; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1820A>G; p.D607G; |
breast | carcinoma |
c.2475C>T; p.L825L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3081_3082insC; p.K1028fs*33; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1851C>A; p.Y617*; |
breast | carcinoma |
c.3081_3082insC; p.K1028fs*33; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.232G>A; p.A78T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.107G>A; p.R36Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2518G>A; p.G840R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1025A>G; p.Q342R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1376A>C; p.Q459P; |
large_intestine; colon | NS |
c.1569A>C; p.E523D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1835T>C; p.F612S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.2754C>A; p.S918S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1807C>T; p.L603L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3445G>A; p.A1149T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3114C>T; p.R1038R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1826A>C; p.D609A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.232G>A; p.A78T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3553G>A; p.V1185M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2549G>A; p.R850H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3676G>A; p.A1226T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2050C>T; p.Q684*; |
breast | carcinoma |
c.504C>T; p.F168F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.718C>A; p.R240S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2520G>A; p.G840G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1108C>T; p.R370C; 5:141224972-141224972 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1587T>C; p.T529T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1272G>C; p.E424D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1110T>C; p.R370R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.362G>A; p.R121H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.844C>T; p.R282W; |
breast | carcinoma |
c.2721G>C; p.K907N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3606C>T; p.C1202C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.603T>C; p.G201G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3501G>A; p.A1167A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.714G>A; p.L238L; 5:141228507-141228507 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.983G>A; p.R328H; |
urinary_tract; bladder | carcinoma |
c.2968A>T; p.K990*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2191C>T; p.R731C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2480G>A; p.G827D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1723C>T; p.R575W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.73C>T; p.H25Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1494C>T; p.D498D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3329C>A; p.P1110H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.249T>C; p.F83F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3529G>C; p.D1177H; |
urinary_tract; bladder | carcinoma |
c.3493G>C; p.E1165Q; |
urinary_tract; bladder | carcinoma |
c.970G>A; p.E324K; |
urinary_tract; bladder | carcinoma |
c.3346A>G; p.M1116V; |
urinary_tract; bladder | carcinoma |
c.601G>T; p.G201C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2979G>A; p.V993V; |
prostate | carcinoma; adenocarcinoma |
c.509C>A; p.S170*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.508_509TC>AA; p.S170>?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.508T>A; p.S170T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2668A>G; p.K890E; |
urinary_tract; bladder | carcinoma |
c.2717C>T; p.S906F; |
skin | malignant_melanoma |
c.2524C>T; p.P842S; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.550G>A; p.G184S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.1576G>T; p.A526S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.299G>T; p.R100L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |