SERPINB5

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

Basic information

Region (hg38): 18:63476957-63505085

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.

• Inborn genetic diseases (18 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in SERPINB5

This is a list of pathogenic ClinVar variants found in the SERPINB5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-63484454-C-T		not specified	Uncertain significance (Dec 07, 2021)
18-63484472-T-C		not specified	Uncertain significance (Sep 22, 2022)
18-63484494-G-T		not specified	Uncertain significance (Jul 20, 2021)
18-63484495-G-C		not specified	Uncertain significance (Oct 18, 2021)
18-63484535-C-T		not specified	Uncertain significance (Jul 09, 2021)
18-63484570-G-T		not specified	Uncertain significance (Apr 08, 2022)
18-63486947-T-G		not specified	Uncertain significance (Jan 30, 2024)
18-63487001-C-T		not specified	Uncertain significance (Oct 03, 2022)
18-63487004-A-T		not specified	Uncertain significance (May 23, 2023)
18-63489370-A-T		not specified	Uncertain significance (Nov 09, 2023)
18-63489428-G-C		not specified	Uncertain significance (Jan 08, 2024)
18-63489452-G-A		not specified	Uncertain significance (Nov 08, 2022)
18-63493075-T-C		not specified	Uncertain significance (Sep 01, 2021)
18-63499160-C-T		not specified	Uncertain significance (Dec 14, 2022)
18-63499226-A-G		not specified	Uncertain significance (Mar 20, 2023)
18-63499268-A-T		not specified	Uncertain significance (Oct 17, 2023)
18-63503409-C-T		not specified	Uncertain significance (Oct 25, 2023)
18-63503417-A-G		not specified	Uncertain significance (Oct 25, 2022)
18-63503442-A-G		not specified	Uncertain significance (Oct 25, 2022)
18-63503450-G-C		not specified	Uncertain significance (Jun 18, 2021)
18-63503461-A-C		not specified	Uncertain significance (Sep 07, 2022)
18-63503468-G-A		not specified	Uncertain significance (Feb 23, 2023)
18-63503526-A-G		not specified	Uncertain significance (Dec 22, 2023)
18-63503634-A-G		not specified	Uncertain significance (Nov 19, 2022)

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