DEFB132

defensin beta 132, the group of Defensins, beta

Basic information

Region (hg38): 20:257724-261096

Links

ENSG00000186458 ∙ NCBI:400830 ∙ ∙ HGNC:33806 ∙ Uniprot:Q7Z7B7 ∙ 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 DEFB132 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB132 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	1		11
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	1	0

Variants in DEFB132

This is a list of pathogenic ClinVar variants found in the DEFB132 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-257812-G-A		not specified	Uncertain significance (Mar 05, 2024)
20-259083-C-T		not specified	Uncertain significance (Aug 17, 2021)
20-259089-G-A		not specified	Uncertain significance (Jun 03, 2022)
20-259097-T-C		not specified	Uncertain significance (Jun 03, 2022)
20-259122-G-T		not specified	Uncertain significance (Aug 17, 2022)
20-259140-G-C		not specified	Likely benign (Dec 14, 2021)
20-259155-T-G		not specified	Uncertain significance (Nov 10, 2024)
20-259185-G-A		not specified	Uncertain significance (Dec 18, 2023)
20-259226-C-T		not specified	Uncertain significance (Oct 16, 2024)
20-259232-G-A		not specified	Uncertain significance (Mar 20, 2023)
20-259269-G-C		not specified	Uncertain significance (Aug 30, 2021)
20-259288-A-C		not specified	Uncertain significance (Nov 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB132	protein_coding	protein_coding	ENST00000382376	2	3361

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00177	0.292	125726	0	14	125740	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.106	48	50.1	0.958	0.00000242	605
Missense in Polyphen		13	6.4962	2.0012		79
Synonymous	-0.0227	22	21.9	1.01	0.00000119	181
Loss of Function	-1.64	3	1.12	2.67	4.75e-8	13

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.000436	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000436	0.000435
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antibacterial activity. {ECO:0000305}.
• Pathway: Vitamin D Receptor Pathway;Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Recessive Scores

• pRec: 0.0808

Intolerance Scores

• loftool: 0.690
• rvis_EVS: 1.17
• rvis_percentile_EVS: 92.68

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00919

Gene Damage Prediction

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

Gene ontology

• Biological process: killing of cells of other organism;innate immune response;defense response to Gram-negative bacterium
• Cellular component: extracellular space;sperm head