| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 84651 |
Name | SPINK7 |
Synonymous | serine peptidase inhibitor, Kazal type 7 (putative);SPINK7;serine peptidase inhibitor, Kazal type 7 (putative) |
Definition | ECRG-2|esophagus cancer related gene 2|esophagus cancer-related gene 2 protein|esophagus cancer-related gene-2|serine protease inhibitor Kazal-type 7 |
Position | 5q32 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
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Loss of Function mutations compare to missense mutations | Top |
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| The ratio of the loss-of-function mutations over missense mutations is 0.13. |
The copy number variations for various cancers | Top |
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The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.215A>T; p.K72I; 5:148315641-148315641 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.202A>G; p.T68A; 5:148314214-148314214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.81delA; p.V30fs*42; 5:148313393-148313393 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.108G>A; p.K36K; 5:148314120-148314120 |
skin | malignant_melanoma | Substitution - coding silent |
c.203C>T; p.T68I; 5:148314215-148314215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.198G>A; p.L66L; 5:148314210-148314210 |
pancreas | carcinoma | Substitution - coding silent |
c.108G>T; p.K36N; 5:148314120-148314120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.80C>G; p.P27R; 5:148313392-148313392 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.223G>A; p.G75R; 5:148315649-148315649 |
skin | malignant_melanoma | Substitution - Missense |
c.21C>T; p.L7L; 5:148312504-148312504 |
skin | malignant_melanoma | Substitution - coding silent |
c.84A>G; p.K28K; 5:148313396-148313396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.130C>A; p.P44T; 5:148314142-148314142 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.123G>A; p.V41V; 5:148314135-148314135 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.132C>A; p.P44P; 5:148314144-148314144 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.98_99GC>TA; p.S33>?; 5:148314110-148314111 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex |
c.37G>T; p.V13L; 5:148312520-148312520 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.170A>G; p.Y57C; 5:148314182-148314182 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.89T>A; p.V30E; 5:148314101-148314101 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.210C>T; p.S70S; 5:148314222-148314222 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |