DEFB105A

defensin beta 105A, the group of Defensins, beta

Basic information

Region (hg38): 8:7821003-7823880

Previous symbols: [ "DEFB105" ]

Links

ENSG00000186562 ∙ NCBI:245908 ∙ ∙ HGNC:18087 ∙ Uniprot:Q8NG35 ∙ 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 DEFB105A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB105A 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			2	1		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	2	1	0

Variants in DEFB105A

This is a list of pathogenic ClinVar variants found in the DEFB105A region.

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

Position	Type	Phenotype	Significance	ClinVar
8-7822045-C-A		not specified	Uncertain significance (Oct 31, 2023)
8-7823384-G-A		not specified	Uncertain significance (Jun 11, 2021)
8-7823415-C-T		not specified	Uncertain significance (Mar 18, 2024)
8-7823828-A-T		not specified	Likely benign (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB105A	protein_coding	protein_coding	ENST00000334773	3	1924

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.377	0.488	121058	0	259	121317	0.00107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.362	15	11.5	1.30	5.42e-7	486
Missense in Polyphen		4	4.1692	0.95941		151
Synonymous	-0.899	6	3.78	1.59	1.63e-7	127
Loss of Function	0.860	0	0.862	0.00	3.62e-8	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000892	0.0000892
Ashkenazi Jewish	0.000309	0.000309
East Asian	0.000334	0.000335
Finnish	0.00	0.00
European (Non-Finnish)	0.000219	0.000219
Middle Eastern	0.000334	0.000335
South Asian	0.00767	0.00770
Other	0.000676	0.000676

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: 0.0680

Haploinsufficiency Scores

• pHI: 0.0534
• hipred: N
• hipred_score: 0.146
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Defb12

Gene ontology

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