SERPINA9

serpin family A member 9, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 14:94462716-94479689

Links

ENSG00000170054 ∙ NCBI:327657 ∙ OMIM:615677 ∙ HGNC:15995 ∙ Uniprot:Q86WD7 ∙ 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 SERPINA9 gene.

• Inborn genetic diseases (25 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINA9 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			25		1	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	1

Variants in SERPINA9

This is a list of pathogenic ClinVar variants found in the SERPINA9 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-94463097-G-A		not specified	Likely benign (Sep 23, 2023)
14-94463143-T-C		not specified	Uncertain significance (Jun 02, 2023)
14-94463214-G-A		not specified	Uncertain significance (Sep 16, 2021)
14-94463217-C-T		not specified	Uncertain significance (Nov 06, 2023)
14-94463232-G-A		not specified	Uncertain significance (Dec 01, 2022)
14-94464708-T-G		not specified	Uncertain significance (Aug 05, 2023)
14-94464715-C-A		not specified	Uncertain significance (Mar 08, 2024)
14-94464807-T-C		not specified	Uncertain significance (Jan 04, 2024)
14-94464825-G-A		not specified	Uncertain significance (Dec 20, 2023)
14-94467127-C-G		not specified	Uncertain significance (Sep 14, 2021)
14-94467166-A-C		not specified	Uncertain significance (Aug 12, 2021)
14-94467174-C-G		not specified	Uncertain significance (Apr 12, 2023)
14-94467230-T-C		not specified	Uncertain significance (Feb 01, 2023)
14-94467232-T-G		not specified	Uncertain significance (Mar 24, 2023)
14-94467260-C-T		not specified	Uncertain significance (Dec 27, 2023)
14-94467262-A-G		not specified	Uncertain significance (Feb 26, 2024)
14-94467291-C-T		not specified	Uncertain significance (Dec 17, 2021)
14-94467349-G-C		not specified	Uncertain significance (Nov 09, 2021)
14-94467375-C-G		not specified	Uncertain significance (Sep 16, 2021)
14-94469248-G-A		not specified	Uncertain significance (Jul 20, 2021)
14-94469293-G-A		not specified	Uncertain significance (Nov 09, 2023)
14-94469310-G-C		not specified	Uncertain significance (Aug 22, 2023)
14-94469323-G-T		not specified	Uncertain significance (May 09, 2022)
14-94469455-G-C		not specified	Uncertain significance (Sep 22, 2022)
14-94469470-G-A			Benign (Jan 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINA9	protein_coding	protein_coding	ENST00000337425	5	16973

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-13	0.00334	121433	73	3319	124825	0.0137

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.11	275	228	1.21	0.0000112	2851
Missense in Polyphen		73	66.714	1.0942		903
Synonymous	-1.95	116	92.2	1.26	0.00000479	873
Loss of Function	-1.26	17	12.2	1.39	5.19e-7	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.153	0.153
Ashkenazi Jewish	0.0185	0.0181
East Asian	0.000834	0.000834
Finnish	0.00158	0.00158
European (Non-Finnish)	0.00554	0.00549
Middle Eastern	0.000834	0.000834
South Asian	0.000785	0.000785
Other	0.0126	0.0123

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease inhibitor that inhibits trypsin and trypsin- like serine proteases (in vitro). Inhibits plasmin and thrombin with lower efficiency (in vitro). {ECO:0000269|PubMed:17447896}.

Recessive Scores

• pRec: 0.0945

Intolerance Scores

• loftool: 0.111
• rvis_EVS: 2.78
• rvis_percentile_EVS: 99.02

Haploinsufficiency Scores

• pHI: 0.0443
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0537

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpina9

Gene ontology

• Biological process: negative regulation of endopeptidase activity
• Cellular component: extracellular space;cytoplasm;membrane
• Molecular function: serine-type endopeptidase inhibitor activity