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Gene : ABR Homo sapiens

Name  ? ABR activator of RhoGEF and GTPase Cytological Location  17p13.3
Brief Description  active BCR-related
description  This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
  • synonyms:
  • HGNC:81,
  • OTTHUMG00000090313,
  • L19704,
  • NM_001092,
  • MDB,
  • active BCR-related gene,
  • uc002fsd.6,
  • MDB,
  • ABR, RhoGEF and GTPase activating protein,
  • ABR
  • identifiers:
  • 29,
  • ENSG00000159842,
  • ABR

Genome feature

Region: gene ? Length: 226195  
Location: 17:1003518-1229712 reverse strand Cyto location: 17p13.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

0 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)

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Other

168 SN Ps

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results