| Gene ID | 958 |
| Symbol | CD40 |
| Synonymous | Bp50|CDW40|TNFRSF5|p50 |
| Full name | CD40 molecule, TNF receptor superfamily member 5 |
| Gene description | B cell surface antigen CD40|B cell-associated molecule|CD40 antigen (TNF receptor superfamily member 5)|CD40 type II isoform|CD40L receptor|nerve growth factor receptor-related B-lymphocyte activation molecule|tumor necrosis factor receptor superfamily me |
| Cytoband | 20q12-q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:109535; HGNC:HGNC:11919; Ensembl:ENSG00000101017; HPRD:00178; Vega:OTTHUMG00000033053 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.421A>C; p.T141P; 20:46123143-46123143 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.560G>A; p.G187D; 20:46128138-46128138 |
liver | carcinoma | Substitution - Missense |
c.368G>A; p.R123H; 20:46122721-46122721 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.774C>T; p.C258C; 20:46128980-46128980 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294A>G; p.E98E; 20:46122647-46122647 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.715C>T; p.P239S; 20:46128921-46128921 |
skin | malignant_melanoma | Substitution - Missense |
c.364C>A; p.H122N; 20:46122717-46122717 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.721G>A; p.D241N; 20:46128927-46128927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.717C>T; p.P239P; 20:46128923-46128923 |
pancreas | carcinoma | Substitution - coding silent |
c.312C>T; p.T104T; 20:46122665-46122665 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.69C>T; p.P23P; 20:46121837-46121837 |
large_intestine; colon | adenoma | Substitution - coding silent |
c.780G>A; p.P260P; 20:46128986-46128986 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.475G>A; p.E159K; 20:46123197-46123197 |
skin | malignant_melanoma | Substitution - Missense |
c.475G>A; p.E159K; 20:46123197-46123197 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.483T>C; p.C161C; 20:46123205-46123205 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.483T>C; p.C161C; 20:46123205-46123205 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.647A>G; p.K216R; 20:46128330-46128330 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.653T>G; p.V218G; 20:46128336-46128336 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.477A>T; p.E159D; 20:46123199-46123199 |
skin | malignant_melanoma | Substitution - Missense |
c.401T>C; p.I134T; 20:46122754-46122754 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.106C>T; p.Q36*; 20:46121874-46121874 |
breast | carcinoma | Substitution - Nonsense |
c.268C>T; p.R90W; 20:46122621-46122621 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796G>A; p.G266S; 20:46129002-46129002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.612C>A; p.I204I; 20:46128190-46128190 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.444C>T; p.V148V; 20:46123166-46123166 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.652G>T; p.V218L; 20:46128335-46128335 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.128C>T; p.P43L; 20:46121896-46121896 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.336G>A; p.T112T; 20:46122689-46122689 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.504G>T; p.E168D; 20:46126646-46126646 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.327G>A; p.W109*; 20:46122680-46122680 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.363G>T; p.L121L; 20:46122716-46122716 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.131G>T; p.G44V; 20:46122233-46122233 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.304A>T; p.I102F; 20:46122657-46122657 |
pancreas | carcinoma | Substitution - Missense |
c.210C>T; p.T70T; 20:46122312-46122312 |
skin | malignant_melanoma | Substitution - coding silent |
c.526C>T; p.Q176*; 20:46126668-46126668 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.273C>A; p.V91V; 20:46122626-46122626 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.769G>A; p.G257R; 20:46128975-46128975 |
skin | malignant_melanoma | Substitution - Missense |
c.769G>A; p.G257R; 20:46128975-46128975 |
skin | malignant_melanoma | Substitution - Missense |
c.249C>T; p.C83C; 20:46122351-46122351 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.249C>T; p.C83C; 20:46122351-46122351 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.676_677insC; p.H228fs*>51; 20:46128882-46128883 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.676_677insC; p.H228fs*>51; 20:46128882-46128883 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.603C>T; p.I201I; 20:46128181-46128181 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.8G>A; p.R3H; 20:46118351-46118351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>A; p.G266D; 20:46129003-46129003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.797G>A; p.G266D; 20:46129003-46129003 |
skin | malignant_melanoma | Substitution - Missense |
c.36C>T; p.G12G; 20:46118379-46118379 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.279G>C; p.Q93H; 20:46122632-46122632 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.130+1G>A; p.?; 20:46121899-46121899 |
skin | malignant_melanoma | Unknown |
c.14C>A; p.P5H; 20:46118357-46118357 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.316G>A; p.E106K; 20:46122669-46122669 |
breast | carcinoma | Substitution - Missense |
c.713T>C; p.F238S; 20:46128919-46128919 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.570T>A; p.D190E; 20:46128148-46128148 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.A17T; 20:46118392-46118392 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.607G>A; p.G203R; 20:46128185-46128185 |
pancreas | carcinoma | Substitution - Missense |
c.244T>C; p.Y82H; 20:46122346-46122346 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.362T>C; p.L121P; 20:46122715-46122715 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.648A>G; p.K216K; 20:46128331-46128331 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.505A>C; p.T169P; 20:46126647-46126647 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |