TIGD5

Chr 8

tigger transposable element derived 5

NCBI Gene: 84948ENSG00000179886UniProt: Q53EQ6

The protein belongs to the tigger subfamily of DNA transposases and is similar to centromere protein B, though its exact cellular function remains unknown. Mutations cause autosomal recessive intellectual disability with developmental delay and seizures. This gene is not highly constrained against loss-of-function variants.

Summary from RefSeq
Research Assistant →
0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.91
LOEUF
—
Mechanism
Clinical Summary— TIGD5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.91LOEUF
pLI 0.001
Z-score 1.82
OE 0.48 (0.27–0.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.73Z-score
OE missense 0.73 (0.65–0.81)
229 obs / 315.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.48 (0.27–0.91)
0≤0.351.4
Missense OE0.73 (0.65–0.81)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 7 / 14.5Missense obs/exp: 229 / 315.5Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TIGD5 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients