DEFB110

Chr 6

defensin beta 110

Also known as: DEFB-10, DEFB-11, DEFB111

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.92
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.92LOEUF
pLI 0.018
Z-score -0.42
OE 1.38 (0.441.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.85Z-score
OE missense 1.42 (1.121.80)
45 obs / 31.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.38 (0.441.92)
00.351.4
Missense OE?1.42 (1.121.80)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 2 / 1.5Missense obs/exp: 45 / 31.6Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DEFB110 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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