TIGD5

Chr 8

tigger transposable element derived 5

NCBI Gene: 84948 ENSG00000179886 UniProt: 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.

ResearchSummary from RefSeq

The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

LOEUF 0.91

Clinical Summary— TIGD5

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

89 VUS of 91 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 OE?0.48 (0.27–0.91)

0≤0.351.4

Missense OE?0.73 (0.65–0.81)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 7 / 14.5Missense obs/exp: 229 / 315.5Syn Z: -0.07

ClinVar Variant Classifications

91 submitted variants in ClinVar

ClinVar

Classification Summary

VUS89

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	89	0	89
Likely Benign	1	1	2
Benign	0	0	0
Total	90	1	91

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

60 pathogenic / likely-pathogenic (of 65) ClinVar copy-number / structural variants overlap TIGD5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →