DEFB128

defensin beta 128, the group of Defensins, beta

Basic information

Region (hg38): 20:187852-189711

Links

ENSG00000185982 ∙ NCBI:245939 ∙ ∙ HGNC:18106 ∙ Uniprot:Q7Z7B8 ∙ 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 DEFB128 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB128 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				1		1
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	3	0

Variants in DEFB128

This is a list of pathogenic ClinVar variants found in the DEFB128 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-187911-G-A		not specified	Uncertain significance (Apr 09, 2024)
20-187954-A-G		not specified	Likely benign (May 14, 2024)
20-187955-A-C		not specified	Likely benign (Jul 09, 2021)
20-187984-G-GT		DEFB128-related disorder	Likely benign (Nov 01, 2021)
20-188082-G-T		not specified	Uncertain significance (Apr 04, 2024)
20-189584-C-T		not specified	Uncertain significance (Jun 11, 2021)
20-189587-C-T		not specified	Uncertain significance (Jul 20, 2022)
20-189622-A-T		DEFB128-related disorder	Likely benign (May 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB128	protein_coding	protein_coding	ENST00000334391	2	1829

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.396	0.482	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.854	60	44.1	1.36	0.00000202	598
Missense in Polyphen		17	9.8428	1.7271		125
Synonymous	-1.87	27	17.1	1.58	7.60e-7	174
Loss of Function	0.938	0	1.03	0.00	4.37e-8	11

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: 0.0225

Intolerance Scores

• loftool: 0.632
• rvis_EVS: 1.08
• rvis_percentile_EVS: 91.76

Haploinsufficiency Scores

• pHI: 0.00108
• hipred: N
• hipred_score: 0.153

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	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Defb20

Gene ontology

• Biological process: killing of cells of other organism;innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium
• Cellular component: extracellular region