DEFB110

defensin beta 110, the group of Defensins, beta

Basic information

Region (hg38): 6:50009138-50021994

Links

ENSG00000203970 ∙ NCBI:245913 ∙ ∙ HGNC:18091 ∙ Uniprot:Q30KQ9 ∙ 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 DEFB110 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFB110 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in DEFB110

This is a list of pathogenic ClinVar variants found in the DEFB110 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-50009205-G-A		not specified	Uncertain significance (Sep 27, 2021)
6-50019026-C-T		not specified	Uncertain significance (Nov 07, 2023)
6-50019035-T-A		not specified	Uncertain significance (Jul 25, 2023)
6-50019086-C-T		not specified	Uncertain significance (May 30, 2024)
6-50019104-T-C		not specified	Uncertain significance (Jul 09, 2021)
6-50019105-A-G		not specified	Uncertain significance (Nov 17, 2023)
6-50019118-C-A		not specified	Uncertain significance (Jan 19, 2024)
6-50019125-G-A		not specified	Uncertain significance (Sep 16, 2021)
6-50021884-G-A		not specified	Uncertain significance (Feb 16, 2023)
6-50021901-A-T		not specified	Uncertain significance (Nov 08, 2021)
6-50021904-T-G		not specified	Uncertain significance (Jul 20, 2021)
6-50021923-G-T		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DEFB110	protein_coding	protein_coding	ENST00000371148	2	12844

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0180	0.506	124297	0	2	124299	0.00000805

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.846	45	31.6	1.42	0.00000133	444
Missense in Polyphen		16	9.4397	1.695		120
Synonymous	-0.216	10	9.17	1.09	3.93e-7	100
Loss of Function	-0.422	2	1.45	1.38	6.12e-8	19

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000620	0.0000619
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000892	0.00000889
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:0000250}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins (Consensus)

Intolerance Scores

• loftool: 0.521
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.440

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	Medium	Low	Medium
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Defb41
• Phenotype: reproductive system phenotype; normal phenotype; endocrine/exocrine gland phenotype

Gene ontology

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