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Gene : BFSP1 Homo sapiens

Name  ? beaded filament structural protein 1 Cytological Location  20p12.1
Brief Description  beaded filament structural protein 1
Description  This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
  • synonyms:
  • OTTHUMG00000031940,
  • NM_001195,
  • CP115,
  • CP94,
  • HGNC:1040,
  • CTRCT33,
  • LIFL-H,
  • BFSP1,
  • CP94,
  • LIFL-H,
  • Y16717,
  • filensin,
  • uc002wpo.4,
  • beaded filament structural protein 1, filensin,
  • CP115
  • identifiers:
  • 631,
  • ENSG00000125864,
  • BFSP1

Genome feature

Region: gene ? Length: 75316  
Location: 20:17493905-17569220 reverse strand Cyto location: 20p12.1


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Function

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0 Pathways

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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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

160 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results