DEFB124

defensin beta 124, the group of Defensins, beta

Basic information

Region (hg38): 20:31465471-31476757

Links

ENSG00000180383NCBI:245937HGNC:18104Uniprot:Q8NES8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DEFB124 gene.

  • Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB124 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
6
clinvar
6
Total 0 0 6 0 0

Variants in DEFB124

This is a list of pathogenic ClinVar variants found in the DEFB124 region.

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

Position Type Phenotype Significance ClinVar
20-31476495-C-T not specified Uncertain significance (Jan 26, 2023)2455691
20-31476504-C-T not specified Uncertain significance (Apr 12, 2022)2282864
20-31476537-G-C not specified Uncertain significance (Nov 10, 2022)2217575
20-31476555-C-T not specified Uncertain significance (May 14, 2024)3313600
20-31476579-G-A not specified Uncertain significance (Oct 26, 2022)2394152
20-31476579-G-C not specified Uncertain significance (Jun 30, 2024)3432066
20-31476671-T-C not specified Uncertain significance (Apr 12, 2022)2282863
20-31476690-G-A not specified Uncertain significance (Jan 29, 2024)3152965
20-31476746-G-C not specified Uncertain significance (Feb 15, 2023)2485096

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DEFB124protein_codingprotein_codingENST00000317676 211252
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1130.616125471011254720.00000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4633038.00.7890.00000191445
Missense in Polyphen1114.080.78125173
Synonymous0.5611518.00.8320.00000105143
Loss of Function0.33511.430.6986.08e-816

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000008820.00000882
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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
0.543
rvis_EVS
0.77
rvis_percentile_EVS
86.89

Haploinsufficiency Scores

pHI
0.0102
hipred
N
hipred_score
0.153
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Defb25
Phenotype

Gene ontology

Biological process
defense response to bacterium;innate immune response
Cellular component
extracellular region
Molecular function