SERPINB4
serpin family B member 4, the group of Serpin peptidase inhibitors
Basic information
Region (hg38): 18:63637258-63644256
Previous symbols: [ "SCCA2" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (12 variants)
- Malignant tumor of prostate (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB4 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 12 | 1 | 13 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 12 | 1 | 0 |
Variants in SERPINB4
This is a list of pathogenic ClinVar variants found in the SERPINB4 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-63637765-T-C | Inborn genetic diseases | Uncertain significance (Apr 22, 2022) | ||
| 18-63637773-T-C | Inborn genetic diseases | Uncertain significance (Dec 05, 2022) | ||
| 18-63637802-A-G | Inborn genetic diseases | Uncertain significance (Jun 29, 2023) | ||
| 18-63637975-T-C | Inborn genetic diseases | Uncertain significance (Jul 11, 2022) | ||
| 18-63637999-G-C | Inborn genetic diseases | Uncertain significance (Jan 03, 2022) | ||
| 18-63639286-A-T | Inborn genetic diseases | Uncertain significance (Aug 02, 2022) | ||
| 18-63639317-C-A | Inborn genetic diseases | Uncertain significance (Feb 13, 2023) | ||
| 18-63639643-C-G | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | ||
| 18-63639644-C-A | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | ||
| 18-63639663-T-C | Inborn genetic diseases | Uncertain significance (Sep 14, 2022) | ||
| 18-63639677-A-G | Inborn genetic diseases | Uncertain significance (Jun 07, 2023) | ||
| 18-63639683-T-C | Inborn genetic diseases | Uncertain significance (Jun 29, 2022) | ||
| 18-63639714-T-G | Inborn genetic diseases | Uncertain significance (Dec 02, 2022) | ||
| 18-63639731-G-A | Inborn genetic diseases | Uncertain significance (Dec 02, 2022) | ||
| 18-63639756-G-T | Inborn genetic diseases | Uncertain significance (May 31, 2023) | ||
| 18-63639761-A-G | Inborn genetic diseases | Uncertain significance (Apr 07, 2022) | ||
| 18-63639770-A-T | Malignant tumor of prostate | Uncertain significance (-) | ||
| 18-63643180-T-C | Inborn genetic diseases | Uncertain significance (Oct 20, 2021) | ||
| 18-63643498-A-G | Inborn genetic diseases | Likely benign (Jun 09, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SERPINB4 | protein_coding | protein_coding | ENST00000341074 | 7 | 7040 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 8.76e-17 | 0.000649 | 125324 | 0 | 385 | 125709 | 0.00153 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -1.87 | 279 | 204 | 1.37 | 0.00000994 | 2604 |
| Missense in Polyphen | 86 | 67.139 | 1.2809 | 913 | ||
| Synonymous | -3.14 | 115 | 79.4 | 1.45 | 0.00000447 | 685 |
| Loss of Function | -1.46 | 21 | 14.9 | 1.41 | 6.95e-7 | 182 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00670 | 0.00666 |
| Ashkenazi Jewish | 0.000696 | 0.000695 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000924 | 0.0000924 |
| European (Non-Finnish) | 0.00152 | 0.00151 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.000266 | 0.000261 |
| Other | 0.00213 | 0.00212 |
dbNSFP
Source:
- Function
- FUNCTION: May act as a protease inhibitor to modulate the host immune response against tumor cells.;
- Pathway
- Amoebiasis - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.117
Intolerance Scores
- loftool
- 0.235
- rvis_EVS
- -0.33
- rvis_percentile_EVS
- 30.7
Haploinsufficiency Scores
- pHI
- 0.0704
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.419
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.534
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Serpinb3d
- Phenotype
Gene ontology
- Biological process
- negative regulation of peptidase activity;negative regulation of endopeptidase activity;regulation of proteolysis;protection from natural killer cell mediated cytotoxicity
- Cellular component
- extracellular space;cytoplasm
- Molecular function
- protease binding;serine-type endopeptidase inhibitor activity;enzyme binding