TULP1

Chr 6

TUB like protein 1

Also known as: LCA15, RP14, TUBL1

NCBI Gene: 7287ENSG00000112041UniProt: O00294

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 14
UniProtLeber congenital amaurosis 15

Clinical highlights

Gene-disease validity (ClinGen)
Leber congenital amaurosis 15 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TULP1
Authoritative clinical overview · Recommended first read
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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?
0.60LOEUF
pLI 0.001
Z-score 3.22
OE 0.37 (0.23–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.65Z-score
OE missense 0.90 (0.82–0.99)
295 obs / 328.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.23–0.60)
0≤0.351.4
Missense OE?0.90 (0.82–0.99)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 11 / 30.1Missense obs/exp: 295 / 328.0Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TULP1 · 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