SERPINB10

serpin family B member 10, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 18:63907957-63936111

Previous symbols: [ "PI10" ]

Links

ENSG00000242550 ∙ NCBI:5273 ∙ OMIM:602058 ∙ HGNC:8942 ∙ Uniprot:P48595 ∙ 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 SERPINB10 gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB10 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in SERPINB10

This is a list of pathogenic ClinVar variants found in the SERPINB10 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-63917981-A-G		not specified	Uncertain significance (Mar 06, 2023)
18-63918068-C-T		not specified	Uncertain significance (Jul 20, 2021)
18-63919896-C-G		not specified	Uncertain significance (Nov 29, 2023)
18-63930097-G-T		not specified	Uncertain significance (May 30, 2023)
18-63930105-T-G		not specified	Uncertain significance (Jul 26, 2022)
18-63930139-T-A		not specified	Uncertain significance (Oct 05, 2023)
18-63933061-C-A		not specified	Uncertain significance (Oct 16, 2023)
18-63933148-G-A		not specified	Likely benign (Dec 20, 2021)
18-63934988-G-A		not specified	Uncertain significance (Jan 09, 2024)
18-63935025-C-T		not specified	Uncertain significance (May 31, 2023)
18-63935139-G-T		not specified	Uncertain significance (Nov 06, 2023)
18-63935160-A-G		not specified	Uncertain significance (May 01, 2022)
18-63935182-C-A		not specified	Uncertain significance (Jan 03, 2024)
18-63935230-A-T		not specified	Likely benign (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINB10	protein_coding	protein_coding	ENST00000238508	7	38938

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.31e-10	0.0919	125468	0	278	125746	0.00111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.971	239	200	1.19	0.00000924	2645
Missense in Polyphen		91	69.621	1.3071		958
Synonymous	-0.888	82	72.4	1.13	0.00000366	700
Loss of Function	0.166	15	15.7	0.955	6.60e-7	218

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00205	0.00204
Ashkenazi Jewish	0.00	0.00
East Asian	0.000329	0.000326
Finnish	0.000879	0.000878
European (Non-Finnish)	0.00149	0.00148
Middle Eastern	0.000329	0.000326
South Asian	0.000592	0.000588
Other	0.00153	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus. {ECO:0000269|PubMed:10871600, ECO:0000269|PubMed:7592909}.
• Pathway: Amoebiasis - Homo sapiens (human);Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.171
• rvis_EVS: 1.36
• rvis_percentile_EVS: 94.41

Haploinsufficiency Scores

• pHI: 0.192
• hipred: N
• hipred_score: 0.146
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0877

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpinb10

Gene ontology

• Biological process: negative regulation of endopeptidase activity;neutrophil degranulation
• Cellular component: extracellular space;nucleus;plasma membrane;secretory granule membrane;ficolin-1-rich granule membrane
• Molecular function: serine-type endopeptidase inhibitor activity