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Gene : 110121296 Homo sapiens

Description  This locus, which is located in the split-hand/split-foot malformation 1 (SHFM1) region on chromosome 7, represents a conserved genomic element that can function as an enhancer. It can activate a minimal Hsp68 promoter coupled to a reporter gene in the otic vesicle, forebrain, branchial arch and limb of transgenic mice, or a minimal E1b promoter in the otic vesicle, forebrain and pectoral fin of transgenic zebrafish. This enhancer is removed in some deletions associated with limb malformations, hearing loss and craniofacial defects. [provided by RefSeq, May 2019]
  • identifiers:
  • 110121296

Genome feature

Region: gene ?
Location: No location information in HumanMine


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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.

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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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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

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1 Data Sets

0 Homologues

0 Located Features

0 Rna Seq Results