SERPINB9

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

Basic information

Region (hg38): 6:2887173-2903309

Previous symbols: [ "PI9" ]

Links

ENSG00000170542 ∙ NCBI:5272 ∙ OMIM:601799 ∙ HGNC:8955 ∙ Uniprot:P50453 ∙ 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 SERPINB9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB9 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				1		1
missense			31	1		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	2	0

Variants in SERPINB9

This is a list of pathogenic ClinVar variants found in the SERPINB9 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-2890213-G-A		not specified	Uncertain significance (May 24, 2023)
6-2890215-C-T		not specified	Uncertain significance (Jun 10, 2022)
6-2890255-G-A		not specified	Uncertain significance (Apr 28, 2023)
6-2890296-G-A		not specified	Uncertain significance (Sep 14, 2022)
6-2890309-C-T		not specified	Uncertain significance (Aug 16, 2022)
6-2890329-A-G		not specified	Uncertain significance (Feb 06, 2023)
6-2890380-G-A		not specified	Uncertain significance (Jan 02, 2024)
6-2890392-G-A		not specified	Uncertain significance (Nov 17, 2022)
6-2890405-T-C		not specified	Uncertain significance (Jan 09, 2024)
6-2890451-T-C			Likely benign (Aug 01, 2022)
6-2890500-A-G		not specified	Uncertain significance (Oct 20, 2023)
6-2890536-G-A		not specified	Uncertain significance (Jul 06, 2021)
6-2890554-G-C		not specified	Uncertain significance (Sep 14, 2023)
6-2891887-C-A		not specified	Uncertain significance (Dec 18, 2023)
6-2891919-G-A		not specified	Uncertain significance (Feb 06, 2023)
6-2893428-G-A		not specified	Uncertain significance (May 25, 2022)
6-2893468-C-G		not specified	Uncertain significance (Nov 09, 2023)
6-2893509-T-C		not specified	Uncertain significance (Oct 12, 2021)
6-2893520-A-G		not specified	Uncertain significance (Nov 10, 2022)
6-2893520-A-T		not specified	Uncertain significance (Aug 30, 2022)
6-2893532-G-A		not specified	Uncertain significance (Apr 17, 2023)
6-2895402-T-C		not specified	Uncertain significance (May 01, 2024)
6-2895442-C-A		not specified	Uncertain significance (Oct 04, 2022)
6-2895480-T-C		not specified	Uncertain significance (May 24, 2023)
6-2895507-G-A		not specified	Uncertain significance (Aug 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINB9	protein_coding	protein_coding	ENST00000380698	6	16015

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0123	0.956	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00670	218	218	0.999	0.0000122	2480
Missense in Polyphen		69	72.802	0.94778		952
Synonymous	0.721	85	93.9	0.905	0.00000644	723
Loss of Function	1.87	5	12.0	0.418	5.05e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000155	0.000154
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000348	0.000343
Middle Eastern	0.00	0.00
South Asian	0.000135	0.000131
Other	0.000337	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Granzyme B inhibitor.
• Pathway: Amoebiasis - Homo sapiens (human);Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.218

Intolerance Scores

• loftool: 0.209
• rvis_EVS: -0.6
• rvis_percentile_EVS: 17.91

Haploinsufficiency Scores

• pHI: 0.447
• hipred: N
• hipred_score: 0.139
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.159

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpinb9g

Gene ontology

• Biological process: mast cell mediated immunity;apoptotic process;immune response;response to bacterium;positive regulation of gene expression;negative regulation of endopeptidase activity;negative regulation by symbiont of host apoptotic process;protection from natural killer cell mediated cytotoxicity;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;cellular response to estrogen stimulus
• Cellular component: extracellular space;nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;membrane;collagen-containing extracellular matrix;extracellular exosome
• Molecular function: protease binding;serine-type endopeptidase inhibitor activity;protein binding;cysteine-type endopeptidase inhibitor activity involved in apoptotic process