TBC1D1

Chr 4

TBC1 domain family member 1

Also known as: TBC, TBC1

NCBI Gene: 23216ENSG00000065882UniProt: Q86TI0OMIM: 609850

TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 3.46
OE 0.52 (0.39–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.75Z-score
OE missense 0.92 (0.86–0.98)
623 obs / 678.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.39–0.70)
0≤0.351.4
Missense OE?0.92 (0.86–0.98)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 31 / 59.9Missense obs/exp: 623 / 678.3Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TBC1D1 · 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 →

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