| Gene ID | 6855 |
| Symbol | SYP |
| Synonymous | MRX96|MRXSYP |
| Full name | synaptophysin |
| Gene description | major synaptic vesicle protein P38 |
| Cytoband | Xp11.23-p11.22 |
| Gene type | protein-coding |
| Synonymous | MIM:313475; HGNC:HGNC:11506; Ensembl:ENSG00000102003; HPRD:02435; Vega:OTTHUMG00000034557 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.289G>A; p.V97I; 23:49194300-49194300 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.289G>A; p.V97I; 23:49194300-49194300 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.412G>T; p.G138W; 23:49194177-49194177 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.7C>A; p.L3M; 23:49200180-49200180 |
liver | carcinoma | Substitution - Missense |
c.7C>A; p.L3M; 23:49200180-49200180 |
liver | carcinoma | Substitution - Missense |
c.879C>T; p.G293G; 23:49191500-49191500 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.883T>C; p.Y295H; 23:49191496-49191496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.482C>T; p.A161V; 23:49193405-49193405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.437C>T; p.T146M; 23:49193450-49193450 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.332C>T; p.A111V; 23:49194257-49194257 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.693G>A; p.P231P; 23:49191686-49191686 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.553C>T; p.Q185*; 23:49193334-49193334 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.554A>G; p.Q185R; 23:49193333-49193333 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.69G>A; p.K23K; 23:49199001-49199001 |
breast | carcinoma | Substitution - coding silent |
c.554A>G; p.Q185R; 23:49193333-49193333 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.719C>A; p.P240H; 23:49191660-49191660 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.201C>T; p.I67I; 23:49197741-49197741 |
pancreas | NS | Substitution - coding silent |
c.201C>T; p.I67I; 23:49197741-49197741 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.582A>G; p.R194R; 23:49193305-49193305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.551G>A; p.R184H; 23:49193336-49193336 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.863G>A; p.G288D; 23:49191516-49191516 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.47G>T; p.G16V; 23:49199023-49199023 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.919A>T; p.T307S; 23:49191460-49191460 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.143G>T; p.S48I; 23:49197799-49197799 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.318C>T; p.F106F; 23:49194271-49194271 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.416C>A; p.P139H; 23:49194173-49194173 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.664G>A; p.V222M; 23:49191715-49191715 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.664G>A; p.V222M; 23:49191715-49191715 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.312C>T; p.A104A; 23:49194277-49194277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.302C>A; p.S101Y; 23:49194287-49194287 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.648C>T; p.V216V; 23:49191731-49191731 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.164T>G; p.V55G; 23:49197778-49197778 |
skin | malignant_melanoma | Substitution - Missense |
c.745G>A; p.A249T; 23:49191634-49191634 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.398G>A; p.R133Q; 23:49194191-49194191 |
breast | carcinoma | Substitution - Missense |
c.583G>T; p.D195Y; 23:49193304-49193304 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.257C>G; p.T86S; 23:49194332-49194332 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.108C>T; p.F36F; 23:49197834-49197834 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.108C>T; p.F36F; 23:49197834-49197834 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.489G>A; p.G163G; 23:49193398-49193398 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.786C>T; p.Y262Y; 23:49191593-49191593 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.555G>C; p.Q185H; 23:49193332-49193332 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.133G>A; p.G45S; 23:49197809-49197809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.133G>A; p.G45S; 23:49197809-49197809 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.448G>A; p.A150T; 23:49193439-49193439 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.41T>C; p.V14A; 23:49199029-49199029 |
breast | carcinoma | Substitution - Missense |
c.913G>A; p.A305T; 23:49191466-49191466 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.402G>A; p.E134E; 23:49194187-49194187 |
NS | NS | Substitution - coding silent |
c.213C>T; p.F71F; 23:49197729-49197729 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909G>C; p.Q303H; 23:49191470-49191470 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.746C>T; p.A249V; 23:49191633-49191633 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.184G>A; p.E62K; 23:49197758-49197758 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.816C>T; p.G272G; 23:49191563-49191563 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.189T>C; p.S63S; 23:49197753-49197753 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |