AHI1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AHI1 (HGNC:21575) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Abelson helper integration site 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ20069, ORF1, JBTS3
%HI
32.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.07(Read more about gnomAD LOEUF score)
Cytoband
6q23.3
Genomic Coordinates
GRCh37/hg19: chr6:135604670-135818878 NCBI Ensembl UCSC
GRCh38/hg38: chr6:135283532-135497740 NCBI Ensembl UCSC
MANE Select Transcript
NM_001134831.2 ENST00000265602.11 (Read more about MANE Select)
Function
Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in cili... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25698
ClinGen Curation ID:
CCID:006640
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous mutations in AHI1 are found in ~11% of individuals with Joubert syndrome (Parisi et al. J Med Genet 2006;43:334-339), an autosomal recessive brain disorder. Missense mutations and small insertions comprise the majority of the mutations described in AHI1. Given that AHI1 is only associated with autosomal recessive disease and that gross deletions are not part of the mutational spectrum, it is not appropriate to target this gene at this time.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)