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Gene : TRPS1 Homo sapiens

Name  ? transcriptional repressor GATA binding 1 Cytological Location  8q23.3
Brief Description  transcriptional repressor GATA binding 1
description  This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
  • synonyms:
  • LGCR,
  • HGNC:12340,
  • TRPS1,
  • GC79,
  • NM_014112,
  • trichorhinophalangeal syndrome I,
  • OTTHUMG00000142829,
  • GC79,
  • LGCR,
  • AF183810,
  • uc003yny.5
  • identifiers:
  • 7227,
  • ENSG00000104447,
  • TRPS1

Genome feature

Region: gene ? Length: 261142  
Location: 8:115408496-115669637 reverse strand Cyto location: 8q23.3


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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

2 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

0 Pathways

163 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results