SERPINB11

serpin family B member 11, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 18:63647579-63726432

Links

ENSG00000206072 ∙ NCBI:89778 ∙ OMIM:615682 ∙ HGNC:14221 ∙ Uniprot:Q96P15 ∙ 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 SERPINB11 gene.

• not_specified (67 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001370475.1. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			64	4		68
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SERPINB11	polymorphic_pseudogene	protein_coding	ENST00000544088	7	76315

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.73e-7	0.638	124345	3	527	124875	0.00212

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.02	235	195	1.21	0.00000953	2567
Missense in Polyphen		75	63.215	1.1864		837
Synonymous	-0.994	88	76.9	1.14	0.00000446	721
Loss of Function	1.07	12	16.7	0.717	7.55e-7	214

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0230	0.0225
Ashkenazi Jewish	0.00	0.00
East Asian	0.000683	0.000666
Finnish	0.0000523	0.0000464
European (Non-Finnish)	0.000241	0.000221
Middle Eastern	0.000683	0.000666
South Asian	0.000862	0.000817
Other	0.00102	0.000988

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has no serine protease inhibitory activity, probably due to mutations in the scaffold impairing conformational change. {ECO:0000269|PubMed:17562709}.

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N

Mouse Genome Informatics

• Gene name: Serpinb11

Gene ontology

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