DEFB115

defensin beta 115, the group of Defensins, beta

Basic information

Region (hg38): 20:31257664-31259632

Links

ENSG00000215547 ∙ NCBI:245929 ∙ ∙ HGNC:18096 ∙ Uniprot:Q30KQ5 ∙ 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 DEFB115 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB115 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			9	1		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	9	1	0

Variants in DEFB115

This is a list of pathogenic ClinVar variants found in the DEFB115 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-31257670-C-T		not specified	Uncertain significance (Feb 25, 2025)
20-31257707-T-A		not specified	Uncertain significance (Sep 16, 2021)
20-31257719-C-A		not specified	Uncertain significance (Dec 21, 2022)
20-31257746-A-G		not specified	Uncertain significance (Oct 25, 2024)
20-31257754-C-A		not specified	Uncertain significance (Dec 05, 2024)
20-31259490-C-T		not specified	Likely benign (Oct 26, 2022)
20-31259524-G-C		not specified	Uncertain significance (Jan 03, 2024)
20-31259567-C-T		not specified	Uncertain significance (Dec 19, 2022)
20-31259568-C-T		not specified	Uncertain significance (Dec 10, 2024)
20-31259570-A-G		not specified	Uncertain significance (Jun 10, 2024)
20-31259601-A-T		not specified	Uncertain significance (Oct 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB115	protein_coding	protein_coding	ENST00000400552	2	1969

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00206	0.315	124531	0	133	124664	0.000534

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.29	65	41.6	1.56	0.00000180	558
Missense in Polyphen		17	8.6056	1.9755		115
Synonymous	-3.53	35	16.7	2.10	7.85e-7	166
Loss of Function	-1.34	3	1.33	2.25	5.58e-8	18

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000873	0.000873
Ashkenazi Jewish	0.000118	0.0000993
East Asian	0.000182	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000188	0.000177
Middle Eastern	0.000182	0.000167
South Asian	0.00318	0.00259
Other	0.000357	0.000331

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antibacterial activity. {ECO:0000250}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Intolerance Scores

• loftool: 0.618
• rvis_EVS: 0.21
• rvis_percentile_EVS: 67.72

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.177

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Defb28

Gene ontology

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