IFT57

Chr 3AR

intraflagellar transport 57

Also known as: ESRRBL1, HIPPI, MHS4R2, OFD18

NCBI Gene: 55081ENSG00000114446UniProt: Q9NWB7OMIM: 606621

Predicted to enable DNA binding activity. Acts upstream of or within apoptotic process and regulation of apoptotic process. Located in ciliary base and photoreceptor connecting cilium. Part of intraciliary transport particle A. Implicated in orofaciodigital syndrome XVIII. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Orofaciodigital syndrome XVIIIMIM #617927
AR

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARModerateconsider for supplementary testing
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.19
OE 0.74 (0.51–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.30Z-score
OE missense 0.94 (0.84–1.06)
217 obs / 229.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.51–1.10)
0≤0.351.4
Missense OE?0.94 (0.84–1.06)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 18 / 24.4Missense obs/exp: 217 / 229.9Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IFT57 · 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