TIGD1

Chr 2

tigger transposable element derived 1

Also known as: EEYORE

NCBI Gene: 200765ENSG00000221944UniProt: Q96MW7

The protein belongs to the tigger subfamily of DNA transposases and shows similarity to centromere protein B, though its exact cellular function remains unknown. This gene has very low constraint against loss-of-function variants (pLI 0.004, LOEUF 1.16), suggesting haploinsufficiency is well-tolerated. Currently, no established Mendelian diseases have been definitively linked to TIGD1 mutations in clinical practice.

Summary from RefSeq
Research Assistant →
0
Active trials
2
Pubs (1 yr)
54
P/LP submissions
0%
P/LP missense
1.16
LOEUF
DN
Mechanism· predicted
Clinical Summary— TIGD1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
48 unique Pathogenic / Likely Pathogenic· 62 VUS of 209 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.16LOEUF
pLI 0.004
Z-score 1.24
OE 0.55 (0.29–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.40Z-score
OE missense 1.08 (0.97–1.20)
234 obs / 217.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.55 (0.29–1.16)
0≤0.351.4
Missense OE1.08 (0.97–1.20)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 5 / 9.0Missense obs/exp: 234 / 217.2Syn Z: 0.33
DN
0.7230th %ile
GOF
0.5464th %ile
LOF
0.2385th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

209 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic39
Likely Pathogenic9
VUS62
Likely Benign79
Benign10
Conflicting8
39
Pathogenic
9
Likely Pathogenic
62
VUS
79
Likely Benign
10
Benign
8
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
37
0
39
Likely Pathogenic
7
0
2
0
9
VUS
1
37
23
1
62
Likely Benign
0
4
30
45
79
Benign
0
0
9
1
10
Conflicting
—8
Total104110147207

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

View in ClinVar →

Protein Context — Lollipop Plot

TIGD1 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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