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Gene : 114827812 Homo sapiens

Description  This genomic sequence, which is located in the split-hand/split-foot malformation 1 (SHFM1) region on chromosome 7, represents an enhancer element. It can activate a minimal E1b promoter in the forebrain, olfactory bulb and trunk 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:
  • 114827812

Genome feature

Region: gene ?
Location: No location information in HumanMine

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



0 Pathways

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1 Data Sets

0 Homologues

0 Located Features

0 Rna Seq Results