| Gene ID | 54 |
| Symbol | ACP5 |
| Synonymous | SPENCDI|TRAP |
| Full name | acid phosphatase 5, tartrate resistant |
| Gene description | TrATPase|tartrate-resistant acid ATPase|tartrate-resistant acid phosphatase type 5 |
| Cytoband | 19p13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:171640; HGNC:HGNC:124; Ensembl:ENSG00000102575; HPRD:01374; Vega:OTTHUMG00000182036 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.316G>A; p.V106M; 19:11576789-11576789 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.350T>A; p.V117D; 19:11576755-11576755 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.848A>G; p.Y283C; 19:11575140-11575140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.838C>T; p.R280C; 19:11575150-11575150 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.390G>A; p.W130*; 19:11576588-11576588 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.271G>C; p.E91Q; 19:11576834-11576834 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.100T>C; p.W34R; 19:11577218-11577218 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.412C>T; p.R138C; 19:11576566-11576566 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.167G>A; p.R56Q; 19:11577151-11577151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.486C>T; p.G162G; 19:11576492-11576492 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765C>T; p.Y255Y; 19:11575223-11575223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.254G>C; p.R85T; 19:11577064-11577064 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.442G>A; p.V148M; 19:11576536-11576536 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.30G>T; p.L10L; 19:11577288-11577288 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.298C>T; p.R100C; 19:11576807-11576807 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.519G>T; p.E173D; 19:11576459-11576459 |
breast | carcinoma | Substitution - Missense |
c.898A>G; p.K300E; 19:11575090-11575090 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.324C>T; p.A108A; 19:11576781-11576781 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.324C>T; p.A108A; 19:11576781-11576781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526C>T; p.R176*; 19:11576452-11576452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.161T>C; p.I54T; 19:11577157-11577157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.162C>T; p.I54I; 19:11577156-11577156 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.90C>T; p.A30A; 19:11577228-11577228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.805C>T; p.R269W; 19:11575183-11575183 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.437C>T; p.T146I; 19:11576541-11576541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.353C>T; p.S118F; 19:11576752-11576752 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.225C>T; p.F75F; 19:11577093-11577093 |
pancreas | carcinoma; adenocarcinoma | Substitution - coding silent |
c.962G>A; p.R321K; 19:11575026-11575026 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.960G>A; p.P320P; 19:11575028-11575028 |
thyroid | other; neoplasm | Substitution - coding silent |
c.693C>T; p.Y231Y; 19:11576285-11576285 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756C>T; p.G252G; 19:11575232-11575232 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.714C>T; p.C238C; 19:11576264-11576264 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756C>T; p.G252G; 19:11575232-11575232 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.715G>A; p.G239S; 19:11576263-11576263 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.403C>T; p.P135S; 19:11576575-11576575 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.555G>A; p.L185L; 19:11576423-11576423 |
thyroid | other; neoplasm | Substitution - coding silent |
c.828C>T; p.N276N; 19:11575160-11575160 |
breast | carcinoma | Substitution - coding silent |
c.52C>G; p.L18V; 19:11577266-11577266 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.620C>T; p.P207L; 19:11576358-11576358 |
skin | malignant_melanoma | Substitution - Missense |
c.588_589GG>AA; p.E197K; 19:11576389-11576390 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.79C>T; p.R27C; 19:11577239-11577239 |
stomach | adenocarcinoma | Substitution - Missense |
c.942C>T; p.L314L; 19:11575046-11575046 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.597C>T; p.Y199Y; 19:11576381-11576381 |
pancreas | carcinoma | Substitution - coding silent |
c.597C>T; p.Y199Y; 19:11576381-11576381 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.385C>T; p.R129C; 19:11576720-11576720 |
breast | carcinoma | Substitution - Missense |
c.531C>T; p.D177D; 19:11576447-11576447 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.531C>T; p.D177D; 19:11576447-11576447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.271G>T; p.E91*; 19:11576834-11576834 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Nonsense |
c.352_353TC>AT; p.S118I; 19:11576752-11576753 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.133G>T; p.A45S; 19:11577185-11577185 |
skin | malignant_melanoma | Substitution - Missense |
c.694G>A; p.G232R; 19:11576284-11576284 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.306G>T; p.V102V; 19:11576799-11576799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.629C>T; p.S210F; 19:11576349-11576349 |
skin | malignant_melanoma | Substitution - Missense |
c.219T>G; p.F73L; 19:11577099-11577099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.807G>A; p.R269R; 19:11575181-11575181 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.807G>A; p.R269R; 19:11575181-11575181 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.742C>G; p.Q248E; 19:11575246-11575246 |
breast | carcinoma | Substitution - Missense |
c.959C>T; p.P320L; 19:11575029-11575029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.545G>A; p.R182H; 19:11576433-11576433 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.249C>T; p.D83D; 19:11577069-11577069 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.106_107GG>AA; p.G36K; 19:11577211-11577212 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.102G>A; p.W34*; 19:11577216-11577216 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.124T>C; p.F42L; 19:11577194-11577194 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |