SERPINB5

serpin family B member 5, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 18:63476958-63505085

Previous symbols: [ "PI5" ]

Links

ENSG00000206075NCBI:5268OMIM:154790HGNC:8949Uniprot:P36952AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINB5 gene.

  • not_specified (41 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002639.5. 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
0
missense
41
clinvar
41
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 41 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERPINB5protein_codingprotein_codingENST00000382771 628325
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.003650.9591257280181257460.0000716
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3901781930.9210.000009322499
Missense in Polyphen5769.010.82597894
Synonymous0.5626773.10.9160.00000381692
Loss of Function1.82613.10.4585.47e-7190

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001810.0000176
Middle Eastern0.000.00
South Asian0.0005080.000490
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity.;
Pathway
p53 signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);ATF-2 transcription factor network;Validated transcriptional targets of TAp63 isoforms;Direct p53 effectors (Consensus)

Recessive Scores

pRec
0.403

Intolerance Scores

loftool
0.159
rvis_EVS
0.42
rvis_percentile_EVS
77.16

Haploinsufficiency Scores

pHI
0.0963
hipred
N
hipred_score
0.476
ghis
0.503

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.661

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Serpinb5
Phenotype
normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); cellular phenotype;

Gene ontology

Biological process
morphogenesis of an epithelium;negative regulation of endopeptidase activity;extracellular matrix organization;regulation of epithelial cell proliferation;prostate gland morphogenesis
Cellular component
extracellular space;cytoplasm
Molecular function
serine-type endopeptidase inhibitor activity;protein binding