| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 53841 |
Name | CDHR5 |
Synonymous | MU-PCDH|MUCDHL|MUPCDH;cadherin-related family member 5;CDHR5;cadherin-related family member 5 |
Definition | mu-protocadherin|mucin and cadherin-like protein |
Position | 11p15.5 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CDHR5 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CDHR5_E15_UTR_3; chr11; 617323 |
SUB; UTR_3; C; C/T; SOMATIC | HYPO; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1471C>T; p.P491S; |
lung | carcinoma; small_cell_carcinoma |
c.1853G>A; p.G618E; |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma |
c.1041G>A; p.A347A; |
NS | malignant_melanoma |
c.1041G>A; p.A347A; |
NS | malignant_melanoma |
c.1560delG; p.P522fs*253; |
NS | malignant_melanoma |
c.1078C>T; p.R360C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2310C>G; p.S770R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2345G>A; p.R782Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.367G>A; p.E123K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.587G>A; p.R196Q; |
oesophagus | carcinoma; adenocarcinoma |
c.2476G>A; p.E826K; |
oesophagus | carcinoma; adenocarcinoma |
c.2316G>A; p.T772T; |
oesophagus | carcinoma; adenocarcinoma |
c.262-3C>T; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.1473C>A; p.P491P; |
oesophagus | carcinoma; adenocarcinoma |
c.2463C>T; p.S821S; |
oesophagus | carcinoma; adenocarcinoma |
c.568C>A; p.P190T; |
lung | carcinoma; adenocarcinoma |
c.858_859CA>TA; p.P286>?; |
lung | carcinoma; adenocarcinoma |
c.258C>T; p.Y86Y; |
lung | carcinoma; adenocarcinoma |
c.961T>A; p.F321I; |
lung | carcinoma; adenocarcinoma |
c.690C>T; p.A230A; |
lung | carcinoma; adenocarcinoma |
c.1753A>G; p.S585G; |
skin; trunk | malignant_melanoma |
c.1876A>G; p.T626A; |
NS | malignant_melanoma |
c.1327G>A; p.A443T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1737_1738delTC; p.Q580fs*134; |
autonomic_ganglia | neuroblastoma |
c.838G>A; p.D280N; |
bone | chondrosarcoma |
c.1419C>G; p.P473P; |
liver | carcinoma |
c.2472G>C; p.E824D; |
lung | carcinoma; adenocarcinoma |
c.2353G>C; p.E785Q; |
lung | carcinoma; adenocarcinoma |
c.1555G>T; p.G519W; |
lung | carcinoma; squamous_cell_carcinoma |
c.570C>T; p.P190P; |
ovary | carcinoma; serous_carcinoma |
c.1870C>T; p.Q624*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1253C>T; p.T418I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.517G>A; p.D173N; |
breast | carcinoma |
c.2469T>C; p.D823D; |
breast | carcinoma |
c.224G>A; p.G75E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1845delC; p.G616fs*159; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.842G>A; p.R281H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1327G>A; p.A443T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.367G>A; p.E123K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.410C>T; p.T137M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1792G>A; p.G598S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2406C>T; p.D802D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1560delG; p.P522fs*253; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1659_1660insC; p.G554fs*161; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1659_1660insC; p.G554fs*161; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.334G>A; p.V112M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.411G>A; p.T137T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1736C>A; p.S579Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1327G>A; p.A443T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.233T>C; p.L78P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.467A>G; p.K156R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1563C>A; p.P521P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2058C>T; p.L686L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.978+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.781C>T; p.H261Y; |
urinary_tract; bladder | carcinoma |
c.825C>T; p.Y275Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.214C>T; p.R72W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.48G>A; p.L16L; |
breast | carcinoma |
c.411G>A; p.T137T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1437C>T; p.S479S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1171G>A; p.E391K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.399G>A; p.V133V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1264C>T; p.L422L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2469T>C; p.D823D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1588delC; p.H530fs*245; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2470_2471GA>AT; p.E824M; |
urinary_tract; bladder | carcinoma |
c.1977G>T; p.E659D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1726C>G; p.P576A; |
cervix | carcinoma; squamous_cell_carcinoma |
c.822C>G; p.I274M; |
urinary_tract; bladder | carcinoma |
c.2058C>T; p.L686L; |
urinary_tract; bladder | carcinoma |
c.1659_1660insC; p.G554fs*161; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2118G>A; p.P706P; |
urinary_tract; bladder | carcinoma |
c.979G>A; p.G327S; |
skin | malignant_melanoma |
c.2353G>A; p.E785K; |
skin | malignant_melanoma |
c.1312G>A; p.V438M; |
skin | malignant_melanoma |
c.1204C>T; p.R402*; |
skin | malignant_melanoma |
c.557G>A; p.R186K; |
skin; scalp | carcinoma; squamous_cell_carcinoma |