SERPINB12

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

Basic information

Region (hg38): 18:63542369-63569329

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.

not_specified (63 variants)

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. These statistics are base on transcript: NM_001307928.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			61 clinvar	2 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	2	0

Loading clinvar variants...

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