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Gene : 106049960 Homo sapiens

Description  This region contains a brain enhancer that likely regulates expression of the sonic hedgehog (SHH) gene, located approximately 460 kb downstream. A mutation in this sequence disrupts binding by homeobox protein SIX3 and causes holoprosencephaly (HPE). [provided by RefSeq, Sep 2015]
  • identifiers:
  • 106049960

Genome feature

Region: gene ?
Location: No location information in HumanMine


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Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

0 SN Ps

0 Cross References

1 Data Sets

0 Homologues

0 Located Features

0 Rna Seq Results