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Gene : ASCL1 Homo sapiens

Name  ? achaete-scute family bHLH transcription factor 1 Cytological Location  12q23.2
Brief Description  achaete-scute family bHLH transcription factor 1
description  This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
  • synonyms:
  • achaete-scute complex-like 1 (Drosophila),
  • bHLHa46,
  • HASH1,
  • OTTHUMG00000169967,
  • achaete-scute complex homolog 1 (Drosophila),
  • HASH1,
  • ASH1,
  • L08424,
  • uc001tjr.5,
  • ASH1,
  • MASH1,
  • bHLHa46,
  • ASCL1,
  • HGNC:738,
  • achaete-scute complex (Drosophila) homolog-like 1,
  • NM_004316
  • identifiers:
  • 429,
  • ENSG00000139352,
  • ASCL1

Genome feature

Region: gene ? Length: 2843  
Location: 12:102957674-102960516 Cyto location: 12q23.2


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

11 SN Ps

5 Cross References

18 Data Sets

14 Homologues

0 Located Features

90 Rna Seq Results