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Gene : AHI1 Homo sapiens

Name  ? Abelson helper integration site 1 Cytological Location  6q23.3
Brief Description  Abelson helper integration site 1
description  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]
  • synonyms:
  • Jouberin,
  • uc003qgj.4,
  • NM_017651,
  • JBTS3,
  • ORF1,
  • OTTHUMG00000015631,
  • ORF1,
  • AHI-1,
  • FLJ20069,
  • AHI1,
  • dJ71N10.1,
  • Abelson helper integration site,
  • AJ459824,
  • HGNC:21575,
  • JBTS3
  • identifiers:
  • 54806,
  • ENSG00000135541,
  • AHI1

Genome feature

Region: gene ? Length: 213800  
Location: 6:135283972-135497771 reverse strand Cyto location: 6q23.3


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Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results