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    IDSP1 iduronate 2-sulfatase pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 3424, updated on 10-Oct-2023

    Summary

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    Official Symbol
    IDSP1provided by HGNC
    Official Full Name
    iduronate 2-sulfatase pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:5390
    See related
    AllianceGenome:HGNC:5390
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IDS2
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    Genomic context

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    Location:
    Xq28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149525000..149526417)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (147790746..147792163)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (148606539..148607956)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6851 Neighboring gene uncharacterized LOC107985667 Neighboring gene IDS recombination region Neighboring gene iduronate 2-sulfatase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:148585415-148585963 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:148586087-148586588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30015 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:148591963-148593162 Neighboring gene Sharpr-MPRA regulatory region 15241 Neighboring gene IDSP1 recombination region Neighboring gene EOLA1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21043 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:148621960-148622150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30016 Neighboring gene endothelium and lymphocyte associated ASCH domain 1 Neighboring gene heat shock transcription factor family, X-linked member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. Rathmann M, et al. Hum Genet, 1995 Jan. PMID 7814022
    2. DNA variability and recombination rates at X-linked loci in humans. Nachman MW, et al. Genetics, 1998 Nov. PMID 9799265, Free PMC Article
    3. Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome. Lagerstedt K, et al. Hum Mol Genet, 1997 Apr. PMID 9097969
    4. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome. Bondeson ML, et al. Hum Mol Genet, 1995 Apr. PMID 7633410

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    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_001149.3 

      Range
      101..1518
      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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      149525000..149526417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      147790746..147792163
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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