SERPINA10

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

Basic information

Region (hg38): 14:94280460-94293268

Links

ENSG00000140093 ∙ NCBI:51156 ∙ OMIM:605271 ∙ HGNC:15996 ∙ Uniprot:Q9UK55 ∙ 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 SERPINA10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA10 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			26	2		28
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	3	0

Variants in SERPINA10

This is a list of pathogenic ClinVar variants found in the SERPINA10 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-94283973-G-A		not specified	Uncertain significance (Aug 30, 2022)
14-94284011-C-G		not specified	Uncertain significance (Jun 18, 2021)
14-94284047-C-T		not specified	Uncertain significance (May 04, 2023)
14-94284070-C-T		not specified	Uncertain significance (Oct 03, 2022)
14-94284138-T-C		not specified	Uncertain significance (Dec 17, 2023)
14-94284144-T-C		not specified	Likely benign (Jan 31, 2022)
14-94286186-C-G		not specified	Uncertain significance (Feb 02, 2024)
14-94286221-G-T		not specified	Uncertain significance (Jun 02, 2023)
14-94288306-C-T		Venous thrombosis, susceptibility to	Uncertain significance (-)
14-94288308-A-G		not specified	Uncertain significance (Aug 02, 2021)
14-94288382-A-G		not specified	Uncertain significance (Jan 02, 2024)
14-94288388-G-A		not specified	Uncertain significance (Jan 10, 2023)
14-94288427-C-T		not specified	Likely benign (Mar 15, 2024)
14-94288445-G-T		not specified	Uncertain significance (Feb 13, 2024)
14-94288518-C-T		not specified	Uncertain significance (Mar 07, 2024)
14-94289953-C-T		not specified	Likely benign (Oct 05, 2023)
14-94289954-G-A		not specified	Uncertain significance (Oct 03, 2022)
14-94290074-C-T		not specified	Uncertain significance (Jan 04, 2022)
14-94290079-A-G		not specified	Uncertain significance (Mar 12, 2024)
14-94290100-A-T		not specified	Uncertain significance (Apr 01, 2024)
14-94290199-G-A		not specified	Uncertain significance (Feb 28, 2024)
14-94290260-A-C		not specified	Uncertain significance (Nov 17, 2022)
14-94290263-C-G		not specified	Uncertain significance (Jan 17, 2024)
14-94290305-T-G		not specified	Uncertain significance (Feb 28, 2023)
14-94290320-T-A		not specified	Uncertain significance (Oct 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINA10	protein_coding	protein_coding	ENST00000393096	4	9959

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.15e-11	0.0278	122813	18	2917	125748	0.0117

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.189	244	236	1.03	0.0000123	2927
Missense in Polyphen		63	65.362	0.96386		868
Synonymous	0.0255	94	94.3	0.997	0.00000528	864
Loss of Function	-0.417	15	13.4	1.12	5.69e-7	182

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0121	0.0121
Ashkenazi Jewish	0.0188	0.0186
East Asian	0.00223	0.00223
Finnish	0.0175	0.0175
European (Non-Finnish)	0.0121	0.0120
Middle Eastern	0.00223	0.00223
South Asian	0.0175	0.0175
Other	0.0161	0.0159

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits activity of the coagulation protease factor Xa in the presence of PROZ, calcium and phospholipids. Also inhibits factor XIa in the absence of cofactors. {ECO:0000269|PubMed:11049983}.
• Pathway: Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.144

Intolerance Scores

• loftool: 0.109
• rvis_EVS: 2.4
• rvis_percentile_EVS: 98.51

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.253

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpina10
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: blood coagulation;negative regulation of endopeptidase activity;post-translational protein modification;cellular protein metabolic process;regulation of acrosome reaction
• Cellular component: extracellular space;endoplasmic reticulum lumen;extracellular exosome
• Molecular function: serine-type endopeptidase inhibitor activity;heparin binding