SERPINB5

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

Basic information

Region (hg38): 18:63476958-63505085

Previous symbols: [ "PI5" ]

Links

ENSG00000206075

∙ NCBI:5268 ∙ OMIM:154790 ∙ HGNC:8949 ∙ Uniprot:P36952 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
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

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINB5	protein_coding	protein_coding	ENST00000382771	6	28325

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00365	0.959	125728	0	18	125746	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.390	178	193	0.921	0.00000932	2499
Missense in Polyphen		57	69.01	0.82597		894
Synonymous	0.562	67	73.1	0.916	0.00000381	692
Loss of Function	1.82	6	13.1	0.458	5.47e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.000508	0.000490
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

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