SERPINB12

serpin family B member 12, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 18:63542368-63569329

Links

ENSG00000166634 ∙ NCBI:89777 ∙ OMIM:615662 ∙ HGNC:14220 ∙ Uniprot:Q96P63 ∙ 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 SERPINB12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB12 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			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	1	0

Variants in SERPINB12

This is a list of pathogenic ClinVar variants found in the SERPINB12 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-63556190-T-G		not specified	Uncertain significance (Oct 12, 2021)
18-63556230-G-A		not specified	Uncertain significance (Jan 26, 2022)
18-63556301-A-C		not specified	Uncertain significance (May 27, 2022)
18-63558412-A-T		not specified	Uncertain significance (Jul 14, 2022)
18-63559591-A-G		not specified	Likely benign (Jun 22, 2021)
18-63559647-A-G		not specified	Uncertain significance (Oct 26, 2022)
18-63559711-T-C		not specified	Uncertain significance (Jun 05, 2023)
18-63561119-C-T		not specified	Uncertain significance (Feb 17, 2022)
18-63561121-A-C		not specified	Uncertain significance (Jul 13, 2021)
18-63561127-G-A		not specified	Uncertain significance (Oct 20, 2021)
18-63561170-A-C		not specified	Uncertain significance (Dec 21, 2022)
18-63564119-C-T		not specified	Uncertain significance (Feb 23, 2023)
18-63565467-T-C		not specified	Uncertain significance (Aug 10, 2021)
18-63565470-T-C		not specified	Uncertain significance (Feb 16, 2023)
18-63565482-G-T		not specified	Uncertain significance (Oct 06, 2021)
18-63565484-C-T		not specified	Uncertain significance (Mar 05, 2024)
18-63565496-G-A		not specified	Uncertain significance (Apr 07, 2023)
18-63565499-T-A		not specified	Uncertain significance (Jul 26, 2022)
18-63565524-T-C		not specified	Uncertain significance (Feb 14, 2023)
18-63565536-G-A		not specified	Uncertain significance (Dec 15, 2022)
18-63565538-T-C		not specified	Uncertain significance (Aug 19, 2021)
18-63565565-G-A		not specified	Uncertain significance (Jan 17, 2024)
18-63565593-A-T		not specified	Uncertain significance (May 18, 2023)
18-63566740-A-G		not specified	Uncertain significance (Oct 06, 2022)
18-63566752-C-T		not specified	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINB12	protein_coding	protein_coding	ENST00000269491	7	10852

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.77e-25	0.00000232	125514	1	231	125746	0.000923

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.714	246	216	1.14	0.0000108	2717
Missense in Polyphen		81	70.352	1.1514		923
Synonymous	-0.319	85	81.3	1.04	0.00000439	729
Loss of Function	-2.82	30	17.3	1.73	8.29e-7	217

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00299	0.00293
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000491	0.000489
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000793	0.000791
Middle Eastern	0.000491	0.000489
South Asian	0.00167	0.00163
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits trypsin and plasmin, but not thrombin, coagulation factor Xa, or urokinase-type plasminogen activator.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.301
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.98

Haploinsufficiency Scores

• pHI: 0.643
• hipred: N
• hipred_score: 0.112
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.814

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Serpinb12
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation;negative regulation of endopeptidase activity;negative regulation of protein catabolic process;neutrophil degranulation
• Cellular component: extracellular space;cytoplasm;plasma membrane;ficolin-1-rich granule membrane
• Molecular function: serine-type endopeptidase inhibitor activity;enzyme binding