SERPINB10
protein-codingserpin family B member 10, the group of Serpin peptidase inhibitors
Gene summary
This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015]
- PI10
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~28.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SERPINB10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_005024.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 54 | 4 | 58 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 55 | 4 | 0 | 59 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_005015.1 | 7 | MANE Select | |
| Ensembl | ENSP00000238508.3 | 7 | MANE Select | |
| RefSeq | XP_011524329.1 | 7 | Standard | |
| RefSeq | XP_011524330.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Amoebiasis - Homo sapiens (human)
- Neutrophil degranulation
- Innate Immune System
- Immune System
Biological Process
- negative regulation of endopeptidase activity
- neutrophil degranulation
Molecular Function
- serine-type endopeptidase inhibitor activity
Cellular Component
- extracellular space
- nucleus
- plasma membrane
- secretory granule membrane
- ficolin-1-rich granule membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000238508
- Coding exons
- 7
- Length
- 38938
- Individuals with no LoFs
- 125468
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 278
- Defined
- 125746
- p
- 0.00111
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.971 | 239 | 200 | 1.19 | 0.00000924 | 2645 |
| Missense (PolyPhen) | 91 | 69.621 | 1.3071 | 958 | ||
| Synonymous | -0.888 | 82 | 72.4 | 1.13 | 0.00000366 | 700 |
| Loss of Function | 0.166 | 15 | 15.7 | 0.955 | 6.60e-7 | 218 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00056 | 0.00055 | rare |
| Latino/Admixed American | 0.0015 | 0.0014 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00033 | 0.00033 | rare |
| Finnish | 0.00088 | 0.00088 | rare |
| European (Non-Finnish) | 0.0015 | 0.0015 | notable |
| South Asian | 0.00059 | 0.00059 | rare |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus. {ECO:0000269|PubMed:10871600, ECO:0000269|PubMed:7592909}.;
Recessive Scores
- pRec
- 0.109
Intolerance Scores
- LoFtool
- 0.171
- RVIS EVS
- 1.36
- RVIS percentile EVS
- 94.41
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0877
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |