DEFB134

defensin beta 134, the group of Defensins, beta

Basic information

Region (hg38): 8:11993173-12000752

Links

ENSG00000205882 ∙ NCBI:613211 ∙ ∙ HGNC:32399 ∙ Uniprot:Q4QY38 ∙ 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 DEFB134 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB134 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in DEFB134

This is a list of pathogenic ClinVar variants found in the DEFB134 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-11994000-T-C		not specified	Uncertain significance (Apr 05, 2023)
8-11994014-A-G		not specified	Uncertain significance (May 31, 2022)
8-11994062-A-T		not specified	Uncertain significance (Aug 08, 2023)
8-11994068-C-A		not specified	Uncertain significance (May 25, 2022)
8-11994087-A-T		not specified	Uncertain significance (Oct 27, 2022)
8-11994091-C-G		not specified	Uncertain significance (Mar 19, 2024)
8-11994096-G-T		not specified	Uncertain significance (Apr 26, 2023)
8-11994113-G-A		not specified	Uncertain significance (Oct 17, 2023)
8-11996223-A-G		not specified	Uncertain significance (May 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB134	protein_coding	protein_coding	ENST00000526438	2	3130

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00174	0.290	125717	0	5	125722	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.45	56	32.7	1.71	0.00000138	427
Missense in Polyphen		14	7.5432	1.856		97
Synonymous	-1.34	17	11.3	1.51	4.84e-7	113
Loss of Function	-1.67	3	1.10	2.72	4.68e-8	13

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000694	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.331
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.435

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0547

Gene Damage Prediction

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

Gene ontology

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