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Gene : 111365204 Homo sapiens

Description  This genomic region represents a DNase I hypersensitive site (DHS) that is present in the intergenic region between the cyclin C (CCNC) and PR/SET domain 13 (PRDM13) genes on chromosome 6. Mutations in this region are associated with autosomal dominant retinal macular dystrophy of the North Carolina type (NCMD, also known as MCDR1). Three single nucleotide variants, V1, V2 and V3, which are associated with this disease, have been identified within this DHS. This DHS is also known to be duplicated along with the PRDM13 and/or CCNC genes in forms of NCMD associated with genomic duplication events. It is thought that this DHS regulates the PRDM13 gene, whose expression is negatively correlated with retinal development, and dysregulation or overexpression of this gene results in the NCMD disease. [provided by RefSeq, Nov 2017]
  • identifiers:
  • 111365204

Genome feature

Region: gene ?
Location: No location information in HumanMine


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Function

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Disease

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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2 Data Sets

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