AHI1

Chr 6

Abelson helper integration site 1

Also known as: AHI-1, JBTS3, ORF1, dJ71N10.1

NCBI Gene: 54806ENSG00000135541UniProt: Q8N157

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 3

Clinical highlights

Gene-disease validity (ClinGen)
Joubert syndrome 3 · 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.
1
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
LOF
Mechanism· G2P
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GeneReview available — AHI1
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?
0.95LOEUF
pLI 0.000
Z-score 1.88
OE 0.75 (0.59–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.03Z-score
OE missense 1.00 (0.94–1.07)
598 obs / 595.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.75 (0.59–0.95)
0≤0.351.4
Missense OE?1.00 (0.94–1.07)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 48 / 64.3Missense obs/exp: 598 / 595.6Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AHI1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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