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    LOC111365204 CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1 [ Homo sapiens (human) ]

    Gene ID: 111365204, updated on 10-Oct-2023

    Summary

    Gene symbol
    LOC111365204
    Gene description
    CCNC and PRDM13 intergenic region DNase I hypersensitve site DHS6S1
    Primary source
    MIM:616842
    Gene type
    biological region
    Feature type(s)
    misc_feature: sequence_alteration
    regulatory: DNase_I_hypersensitive_site
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCDR1; PBCRA; DHS6S1
    Summary
    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). Multiple NCMD-associated single nucleotide variants, including V1, V2 and V3, 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, Jan 2021]
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    Genomic context

    See LOC111365204 in Genome Data Viewer
    Location:
    6q16.2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (99592885..99593339)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (100766332..100766786)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (100040761..100041215)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene thiosulfate sulfurtransferase like domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24862 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:100023517-100023714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100051429-100052268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100061850-100062398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17422 Neighboring gene cyclin C Neighboring gene ribosomal protein S3 pseudogene 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100097329-100097949 Neighboring gene PR/SET domain 13 Neighboring gene Sharpr-MPRA regulatory region 7231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:100271711-100272281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:100379521-100380020 Neighboring gene melanin concentrating hormone receptor 2 Neighboring gene MCHR2 antisense RNA 1

    Genomic regions, transcripts, and products

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_055818.1 

      Range
      101..555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      99592885..99593339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      100766332..100766786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)