DEFB119

defensin beta 119, the group of Defensins, beta

Basic information

Region (hg38): 20:31377164-31390590

Previous symbols: [ "DEFB120" ]

Links

ENSG00000180483 ∙ NCBI:245932 ∙ OMIM:615997 ∙ HGNC:18099 ∙ Uniprot:Q8N690 ∙ 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 DEFB119 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB119 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in DEFB119

This is a list of pathogenic ClinVar variants found in the DEFB119 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-31377280-C-G		not specified	Uncertain significance (Nov 09, 2024)
20-31377284-C-T		not specified	Uncertain significance (Jul 02, 2024)
20-31377316-C-T		not specified	Uncertain significance (Feb 10, 2022)
20-31377361-A-C		not specified	Uncertain significance (Aug 02, 2021)
20-31377374-C-T		not specified	Uncertain significance (Jan 21, 2025)
20-31377382-T-C		not specified	Likely benign (Dec 28, 2023)
20-31377392-C-T		not specified	Uncertain significance (Aug 09, 2021)
20-31377418-C-T		not specified	Uncertain significance (Sep 17, 2021)
20-31377421-C-T		not specified	Uncertain significance (Jul 25, 2023)
20-31389132-G-A		not specified	Uncertain significance (Oct 06, 2024)
20-31389149-C-T		not specified	Uncertain significance (Oct 08, 2024)
20-31389161-C-T		not specified	Uncertain significance (Apr 08, 2024)
20-31389204-G-A		not specified	Uncertain significance (May 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB119	protein_coding	protein_coding	ENST00000376315	2	13440

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0967	0.593	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0886	51	52.8	0.966	0.00000320	566
Missense in Polyphen		15	14.355	1.0449		114
Synonymous	0.943	10	14.6	0.686	6.32e-7	170
Loss of Function	0.0960	1	1.11	0.902	4.69e-8	13

LoF frequencies by population

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

Recessive Scores

• pRec: 0.0264

Intolerance Scores

• loftool: 0.544
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.46

Haploinsufficiency Scores

• pHI: 0.00629
• hipred: N
• hipred_score: 0.146
• ghis: 0.435

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Defb19

Gene ontology

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