DEFB123

defensin beta 123, the group of Defensins, beta

Basic information

Region (hg38): 20:31440632-31450257

Links

ENSG00000180424NCBI:245936OMIM:616076HGNC:18103Uniprot:Q8N688AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DEFB123 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB123 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
4
clinvar
2
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 4 2 0

Variants in DEFB123

This is a list of pathogenic ClinVar variants found in the DEFB123 region.

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

Position Type Phenotype Significance ClinVar
20-31440730-T-A not specified Uncertain significance (Feb 10, 2022)2370314
20-31440748-T-C not specified Uncertain significance (May 23, 2023)2550475
20-31450109-A-G not specified Likely benign (Sep 01, 2021)2366033
20-31450140-A-G not specified Likely benign (Feb 10, 2022)2276472
20-31450143-A-G not specified Uncertain significance (Mar 02, 2023)2471926
20-31450161-G-C not specified Uncertain significance (Aug 05, 2024)2271577

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DEFB123protein_codingprotein_codingENST00000376309 29739
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4100.477125576091255850.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3162833.10.8460.00000169424
Missense in Polyphen53.61351.383741
Synonymous0.6171012.80.7816.35e-7118
Loss of Function0.99101.140.004.80e-815

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.0001400.000140
European (Non-Finnish)0.00004400.0000440
Middle Eastern0.000.00
South Asian0.000.00
Other0.0001630.000163

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
0.00659

Intolerance Scores

loftool
0.615
rvis_EVS
-0.01
rvis_percentile_EVS
52.85

Haploinsufficiency Scores

pHI
0.104
hipred
N
hipred_score
0.146
ghis
0.454

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
MendelianLowLowLow
Primary ImmunodeficiencyLowLowLow
CancerLowLowLow

Mouse Genome Informatics

Gene name
Defb36
Phenotype

Gene ontology

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