SERPINA4

serpin family A member 4, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 14:94561442-94569913

Previous symbols: [ "PI4" ]

Links

ENSG00000100665NCBI:5267OMIM:147935HGNC:8948Uniprot:P29622AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINA4 gene.

  • not_specified (80 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006215.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
74
clinvar
6
clinvar
1
clinvar
81
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 74 6 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERPINA4protein_codingprotein_codingENST00000557004 48823
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.73e-90.094112555201961257480.000780
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6782772471.120.00001492814
Missense in Polyphen8664.5491.3323892
Synonymous-1.311271101.160.00000741856
Loss of Function-0.1491211.51.055.54e-7143

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008170.000817
Ashkenazi Jewish0.004370.00437
East Asian0.0005990.000598
Finnish0.0006010.000601
European (Non-Finnish)0.0007120.000712
Middle Eastern0.0005990.000598
South Asian0.0004570.000457
Other0.001140.00114

dbNSFP

Source: dbNSFP

Function
FUNCTION: Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein. {ECO:0000269|PubMed:8227002}.;
Pathway
Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

pRec
0.239

Intolerance Scores

loftool
rvis_EVS
-0.75
rvis_percentile_EVS
13.58

Haploinsufficiency Scores

pHI
0.112
hipred
N
hipred_score
0.112
ghis
0.434

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.568

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
platelet degranulation;negative regulation of endopeptidase activity
Cellular component
extracellular region;extracellular space;platelet dense granule lumen;extracellular exosome
Molecular function
serine-type endopeptidase inhibitor activity