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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:
  • NCRNA00081,
  • bA348N5.3,
  • BBIP10,
  • HGNC:28093,
  • NR_015402,
  • non-protein coding RNA 81,
  • NCRNA00081,
  • BBIP1,
  • uc010qrf.2,
  • BBIP10,
  • BBS18,
  • AK025724,
  • BBS18,
  • bA348N5.3,
  • OTTHUMG00000019046
  • identifiers:
  • 92482,
  • ENSG00000214413,
  • BBIP1

Genome feature

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

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Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Structure Displayer

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Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



405 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results