DEFB121

defensin beta 121, the group of Defensins, beta

Basic information

Region (hg38): 20:31404845-31412838

Links

ENSG00000204548

∙ NCBI:245934 ∙ OMIM:616075 ∙ HGNC:18101 ∙ Uniprot:Q5J5C9 ∙ 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 DEFB121 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB121 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			3 clinvar			3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	0	0

Variants in DEFB121

This is a list of pathogenic ClinVar variants found in the DEFB121 region.

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

Position	Phenotype	Significance	ClinVar
20-31404938-C-T	not specified	Uncertain significance (Jan 26, 2022)	2204659
20-31404992-C-T	not specified	Uncertain significance (Mar 13, 2023)	2473277
20-31405070-C-T	not specified	Uncertain significance (Mar 20, 2023)	2514336
20-31406110-C-T	not specified	Uncertain significance (Mar 28, 2024)	3271461

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB121	protein_coding	protein_coding	ENST00000376314	2	7994

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0965	0.593	125643	0	26	125669	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0630	38	36.9	1.03	0.00000156	474
Missense in Polyphen		9	8.5574	1.0517		106
Synonymous	-0.512	17	14.5	1.17	6.22e-7	154
Loss of Function	0.0930	1	1.11	0.905	4.69e-8	13

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000167	0.000167
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000490	0.000489

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: 0.0576

Intolerance Scores

loftool: 0.626
rvis_EVS: -0.08
rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

pHI: 0.0395
hipred: N
hipred_score: 0.146
ghis: 0.432

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

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

Gene ontology

Biological process: defense response to bacterium;innate immune response
Cellular component: extracellular region
Molecular function: molecular_function;protein binding