DEFB131A

defensin beta 131A, the group of Defensins, beta

Basic information

Region (hg38): 4:9444414-9450666

Previous symbols: [ "DEFB131" ]

Links

ENSG00000186146 ∙ NCBI:644414 ∙ ∙ HGNC:18108 ∙ Uniprot:P59861 ∙ 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 DEFB131A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB131A 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in DEFB131A

This is a list of pathogenic ClinVar variants found in the DEFB131A region.

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

Position	Type	Phenotype	Significance	ClinVar
4-9444540-G-T		not specified	Uncertain significance (Mar 29, 2022)
4-9444541-T-G		not specified	Uncertain significance (Jun 26, 2024)
4-9444547-T-G		not specified	Uncertain significance (Aug 08, 2022)
4-9444585-C-T		not specified	Uncertain significance (Apr 13, 2022)
4-9444586-C-T		not specified	Uncertain significance (Nov 09, 2023)
4-9450374-T-C		not specified	Uncertain significance (Oct 25, 2024)
4-9450379-T-A		not specified	Uncertain significance (Jan 23, 2024)
4-9450437-G-A		not specified	Uncertain significance (Apr 12, 2022)
4-9450440-A-G		not specified	Uncertain significance (Aug 03, 2022)
4-9450443-A-G		not specified	Uncertain significance (Nov 17, 2022)
4-9450453-C-A		not specified	Likely benign (Oct 24, 2024)
4-9450481-G-T		not specified	Uncertain significance (Nov 09, 2024)
4-9450482-A-G		not specified	Uncertain significance (Jul 14, 2023)
4-9450506-A-G		not specified	Uncertain significance (Aug 05, 2024)
4-9450507-A-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB131A	protein_coding	protein_coding	ENST00000334879	2	5981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0135	0.448	117299	0	4	117303	0.0000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.49	71	31.6	2.25	0.00000142	458
Missense in Polyphen		0	1.4364	0		16
Synonymous	-3.87	27	10.8	2.50	5.55e-7	111
Loss of Function	-0.935	2	0.994	2.01	4.22e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000687	0.0000580
Finnish	0.00	0.00
European (Non-Finnish)	0.0000192	0.0000185
Middle Eastern	0.0000687	0.0000580
South Asian	0.0000424	0.0000368
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (PubMed:26649771). {ECO:0000269|PubMed:26649771, ECO:0000305}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Intolerance Scores

• rvis_EVS: 0.59
• rvis_percentile_EVS: 82.45

Haploinsufficiency Scores

• pHI: 0.0482
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Defb43
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: defense response to bacterium;innate immune response
• Cellular component: extracellular space