SERPINA12
Basic information
Region (hg38): 14:94487274-94517844
Links
Phenotypes
GenCC
Source:
- hereditary palmoplantar keratoderma, Gamborg-Nielsen type (Supportive), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (61 variants)
- not_provided (7 variants)
- Hereditary_palmoplantar_keratoderma,_Gamborg-Nielsen_type (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001382267.1. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 58 | 65 | ||||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 1 | 0 | 58 | 6 | 4 |
Highest pathogenic variant AF is 0.0000024787
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SERPINA12 | protein_coding | protein_coding | ENST00000341228 | 4 | 30571 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
7.72e-7 | 0.300 | 124288 | 5 | 1455 | 125748 | 0.00582 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.04 | 278 | 233 | 1.19 | 0.0000126 | 2757 |
Missense in Polyphen | 88 | 70.607 | 1.2463 | 936 | ||
Synonymous | -0.453 | 103 | 97.3 | 1.06 | 0.00000611 | 796 |
Loss of Function | 0.340 | 10 | 11.2 | 0.891 | 4.76e-7 | 149 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00512 | 0.00510 |
Ashkenazi Jewish | 0.000211 | 0.000198 |
East Asian | 0.00691 | 0.00693 |
Finnish | 0.0120 | 0.0117 |
European (Non-Finnish) | 0.00813 | 0.00791 |
Middle Eastern | 0.00691 | 0.00693 |
South Asian | 0.000823 | 0.000784 |
Other | 0.00461 | 0.00441 |
dbNSFP
Source:
- Function
- FUNCTION: Adipokine that modulates insulin action by specifically inhibiting its target protease KLK7 in white adipose tissues. {ECO:0000269|PubMed:16030142}.;
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- loftool
- rvis_EVS
- 1.42
- rvis_percentile_EVS
- 94.92
Haploinsufficiency Scores
- pHI
- 0.0333
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.391
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.206
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Serpina12
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; liver/biliary system phenotype;
Gene ontology
- Biological process
- negative regulation of endopeptidase activity;positive regulation of phosphatidylinositol 3-kinase signaling;negative regulation of gluconeogenesis;positive regulation of insulin receptor signaling pathway;negative regulation of lipid biosynthetic process;regulation of cholesterol metabolic process;regulation of triglyceride metabolic process
- Cellular component
- extracellular space;plasma membrane
- Molecular function
- serine-type endopeptidase inhibitor activity