DEFB127

defensin beta 127, the group of Defensins, beta

Basic information

Region (hg38): 20:157454-159163

Previous symbols: [ "C20orf73" ]

Links

ENSG00000088782 ∙ NCBI:140850 ∙ ∙ HGNC:16206 ∙ Uniprot:Q9H1M4 ∙ 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 DEFB127 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB127 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in DEFB127

This is a list of pathogenic ClinVar variants found in the DEFB127 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-158795-G-T		not specified	Uncertain significance (Jan 04, 2024)
20-158816-G-C		not specified	Uncertain significance (Jun 16, 2023)
20-158846-A-G		not specified	Uncertain significance (Jul 06, 2022)
20-158953-C-G		not specified	Uncertain significance (Aug 13, 2021)
20-158974-T-A		not specified	Uncertain significance (Feb 28, 2024)
20-158975-A-G		not specified	Uncertain significance (Feb 09, 2022)
20-158977-G-A		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB127	protein_coding	protein_coding	ENST00000382388	2	1694

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.405	0.479	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.148	53	50.0	1.06	0.00000230	641
Missense in Polyphen		7	9.0966	0.76952		132
Synonymous	-0.293	19	17.4	1.09	7.49e-7	185
Loss of Function	0.973	0	1.10	0.00	4.69e-8	12

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: 0.0644

Intolerance Scores

• loftool: 0.771
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.27

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0163

Gene Damage Prediction

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

Gene ontology

• Biological process: defense response to bacterium;innate immune response;defense response to Gram-negative bacterium;antimicrobial humoral immune response mediated by antimicrobial peptide
• Cellular component: cellular_component;extracellular region
• Molecular function: protein binding