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Gene : BBIP1 Homo sapiens

Name  ? BBSome interacting protein 1 Cytological Location  10q25.2
Brief Description  BBSome interacting protein 1
Description  This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
  • synonyms:
  • BBIP10,
  • uc010qrf.2,
  • non-protein coding RNA 81,
  • bA348N5.3,
  • bA348N5.3,
  • NCRNA00081,
  • OTTHUMG00000019046,
  • BBIP1,
  • BBS18,
  • AK025724,
  • NCRNA00081,
  • BBS18,
  • BBIP10,
  • HGNC:28093,
  • NR_015402
  • identifiers:
  • 92482,
  • ENSG00000214413,
  • BBIP1

Genome feature

Region: gene ? Length: 20637  
Location: 10:110898730-110919366 reverse strand Cyto location: 10q25.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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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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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

405 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results