| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6692 |
Name | SPINT1 |
Synonymous | HAI|HAI1|MANSC2;serine peptidase inhibitor, Kunitz type 1;SPINT1;serine peptidase inhibitor, Kunitz type 1 |
Definition | HAI-1|hepatocyte growth factor activator inhibitor type 1|kunitz-type protease inhibitor 1|serine protease inhibitor, Kunitz type 1 |
Position | 15q15.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SPINT1 | ||
PCGP somatic mutation [Top] | ||
There is no record for SPINT1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1503delC; p.P502fs*>28; |
NS | malignant_melanoma |
c.1217G>A; p.R406H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1159G>A; p.D387N; |
oesophagus | carcinoma; adenocarcinoma |
c.135C>T; p.P45P; |
oesophagus | carcinoma; adenocarcinoma |
c.357C>G; p.I119M; |
lung | carcinoma; adenocarcinoma |
c.37G>T; p.A13S; |
lung | carcinoma; adenocarcinoma |
c.1579C>A; p.R527R; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.307G>T; p.E103*; |
lung | carcinoma; small_cell_carcinoma |
c.663G>C; p.Q221H; 15:38933038-38933038 |
ovary | carcinoma; serous_carcinoma |
c.1352G>A; p.G451D; |
ovary | carcinoma; serous_carcinoma |
c.1461C>T; p.F487F; |
lung | carcinoma; adenocarcinoma |
c.684C>A; p.D228E; |
lung | carcinoma; squamous_cell_carcinoma |
c.1123G>C; p.G375R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1324C>T; p.R442C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1233C>T; p.P411P; |
breast | carcinoma |
c.290G>T; p.C97F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.954delC; p.Q320fs*133; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1109delA; p.K371fs*82; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1103C>T; p.A368V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1525T>A; p.S509T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.423C>A; p.L141L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.834C>T; p.F278F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.698C>T; p.T233M; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.562G>T; p.D188Y; |
breast | carcinoma |
c.1139A>G; p.Q380R; |
prostate | carcinoma |
c.1361G>T; p.R454L; |
skin | malignant_melanoma |
c.798G>A; p.W266*; |
skin; neck | malignant_melanoma |
c.1369C>T; p.P457S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |