| Gene ID | 5272 |
| Symbol | SERPINB9 |
| Synonymous | CAP-3|CAP3|PI-9|PI9 |
| Full name | serpin peptidase inhibitor, clade B (ovalbumin), member 9 |
| Gene description | cytoplasmic antiproteinase 3|peptidase inhibitor 9|protease inhibitor 9 (ovalbumin type)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9|serpin B9|serpin peptidase inhibitor, clade B, member 9 |
| Cytoband | 6p25 |
| Gene type | protein-coding |
| Synonymous | MIM:601799; HGNC:HGNC:8955; Ensembl:ENSG00000170542; HPRD:03480; Vega:OTTHUMG00000014131 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.200A>G; p.H67R; 6:2896159-2896159 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.170C>T; p.A57V; 6:2896189-2896189 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.979A>C; p.T327P; 6:2890315-2890315 |
breast | carcinoma | Substitution - Missense |
c.127C>G; p.L43V; 6:2900485-2900485 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.799G>T; p.V267F; 6:2890495-2890495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.263C>T; p.T88M; 6:2896096-2896096 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.42C>T; p.R14R; 6:2900570-2900570 |
skin | malignant_melanoma | Substitution - coding silent |
c.41G>A; p.R14H; 6:2900571-2900571 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.691C>T; p.L231L; 6:2891865-2891865 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.578G>T; p.R193M; 6:2891978-2891978 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.712G>C; p.E238Q; 6:2891844-2891844 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.40C>T; p.R14C; 6:2900572-2900572 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1015G>A; p.A339T; 6:2890279-2890279 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.100A>G; p.S34G; 6:2900512-2900512 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.606C>T; p.A202A; 6:2891950-2891950 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.598C>G; p.Q200E; 6:2891958-2891958 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.636G>T; p.V212V; 6:2891920-2891920 |
kidney | other; neoplasm | Substitution - coding silent |
c.328C>A; p.Q110K; 6:2895487-2895487 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1124C>T; p.S375L; 6:2890170-2890170 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.880C>T; p.Q294*; 6:2890414-2890414 |
skin | malignant_melanoma | Substitution - Nonsense |
c.942C>T; p.F314F; 6:2890352-2890352 |
skin | malignant_melanoma | Substitution - coding silent |
c.942C>T; p.F314F; 6:2890352-2890352 |
skin | malignant_melanoma | Substitution - coding silent |
c.667A>T; p.R223W; 6:2891889-2891889 |
oesophagus | carcinoma | Substitution - Missense |
c.976G>T; p.G326C; 6:2890318-2890318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.904G>A; p.A302T; 6:2890390-2890390 |
skin | malignant_melanoma | Substitution - Missense |
c.758C>A; p.A253D; 6:2890536-2890536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.994G>T; p.A332S; 6:2890300-2890300 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.853C>T; p.R285W; 6:2890441-2890441 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.150C>T; p.T50T; 6:2900462-2900462 |
skin | malignant_melanoma | Substitution - coding silent |
c.215C>T; p.S72L; 6:2896144-2896144 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.149C>T; p.T50I; 6:2900463-2900463 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1018G>C; p.E340Q; 6:2890276-2890276 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.92C>A; p.S31Y; 6:2900520-2900520 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.305C>T; p.S102L; 6:2896054-2896054 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.445C>T; p.P149S; 6:2893533-2893533 |
skin | malignant_melanoma | Substitution - Missense |
c.926T>C; p.L309P; 6:2890368-2890368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.738C>T; p.L246L; 6:2890556-2890556 |
breast | carcinoma | Substitution - coding silent |
c.529G>A; p.E177K; 6:2893449-2893449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.529G>A; p.E177K; 6:2893449-2893449 |
skin | malignant_melanoma | Substitution - Missense |
c.423A>C; p.E141D; 6:2895392-2895392 |
pancreas | carcinoma | Substitution - Missense |
c.423A>C; p.E141D; 6:2895392-2895392 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1026C>T; p.C342C; 6:2890268-2890268 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1029G>A; p.M343I; 6:2890265-2890265 |
skin | malignant_melanoma | Substitution - Missense |
c.1061C>T; p.P354L; 6:2890233-2890233 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.250T>C; p.Y84H; 6:2896109-2896109 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.340G>C; p.A114P; 6:2895475-2895475 |
breast | carcinoma | Substitution - Missense |
c.71C>T; p.P24L; 6:2900541-2900541 |
skin | malignant_melanoma | Substitution - Missense |
c.29C>A; p.T10N; 6:2900583-2900583 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.702C>T; p.D234D; 6:2891854-2891854 |
breast | carcinoma | Substitution - coding silent |
c.581C>T; p.P194L; 6:2891975-2891975 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.414A>G; p.K138K; 6:2895401-2895401 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.45T>G; p.L15L; 6:2900567-2900567 |
liver | carcinoma | Substitution - coding silent |
c.45T>G; p.L15L; 6:2900567-2900567 |
liver | carcinoma | Substitution - coding silent |
c.989C>T; p.A330V; 6:2890305-2890305 |
breast | carcinoma | Substitution - Missense |
c.863G>A; p.G288E; 6:2890431-2890431 |
skin | malignant_melanoma | Substitution - Missense |
c.198T>C; p.I66I; 6:2896161-2896161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.159G>T; p.Q53H; 6:2900453-2900453 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1054G>A; p.D352N; 6:2890240-2890240 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1065C>T; p.F355F; 6:2890229-2890229 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1108T>C; p.C370R; 6:2890186-2890186 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.194A>G; p.D65G; 6:2896165-2896165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.914C>T; p.A305V; 6:2890380-2890380 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.505G>A; p.G169R; 6:2893473-2893473 |
skin | malignant_melanoma | Substitution - Missense |
c.487A>G; p.N163D; 6:2893491-2893491 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.943G>A; p.V315M; 6:2890351-2890351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.619G>T; p.A207S; 6:2891937-2891937 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1043G>T; p.R348M; 6:2890251-2890251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.981C>T; p.T327T; 6:2890313-2890313 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.981C>T; p.T327T; 6:2890313-2890313 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.802C>A; p.L268I; 6:2890492-2890492 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.985G>T; p.A329S; 6:2890309-2890309 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.265G>A; p.A89T; 6:2896094-2896094 |
skin; mucosal | malignant_melanoma | Substitution - Missense |