DEFB108B

defensin beta 108B, the group of Defensins, beta

Basic information

Region (hg38): 11:71833200-71837710

Links

ENSG00000184276 ∙ NCBI:245911 ∙ ∙ HGNC:29966 ∙ Uniprot:Q8NET1 ∙ 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 DEFB108B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB108B 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			5		1	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	5	0	1

Variants in DEFB108B

This is a list of pathogenic ClinVar variants found in the DEFB108B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-71833244-C-A		not specified	Uncertain significance (Aug 01, 2024)
11-71837428-C-T		not specified	Uncertain significance (Jun 10, 2022)
11-71837432-C-G		not specified	Uncertain significance (Feb 27, 2023)
11-71837456-G-A		not specified	Uncertain significance (Dec 27, 2022)
11-71837498-A-G			Benign (Dec 31, 2019)
11-71837528-C-A		not specified	Uncertain significance (May 04, 2022)
11-71837543-C-G		not specified	Uncertain significance (Mar 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB108B	protein_coding	protein_coding	ENST00000328698	2	4511

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00160	0.278	125532	0	13	125545	0.0000518

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.09	57	38.1	1.49	0.00000181	479
Missense in Polyphen		20	8.8931	2.2489		113
Synonymous	0.327	11	12.5	0.882	5.34e-7	131
Loss of Function	-1.86	3	0.995	3.01	4.22e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000202
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000117	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000285	0.0000265
Middle Eastern	0.000117	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antibacterial activity. {ECO:0000250}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Recessive Scores

• pRec: 0.0526

Intolerance Scores

• loftool: 0.779
• rvis_EVS: 1.37
• rvis_percentile_EVS: 94.47

Haploinsufficiency Scores

• pHI: 0.0248
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0634

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
• Cellular component: extracellular region