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    PTCHD1-AS PTCHD1 antisense RNA (head to head) [ Homo sapiens (human) ]

    Gene ID: 100873065, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PTCHD1-ASprovided by HGNC
    Official Full Name
    PTCHD1 antisense RNA (head to head)provided by HGNC
    Primary source
    HGNC:HGNC:37703
    See related
    AllianceGenome:HGNC:37703
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHEX-AS1; DDX53-AS1; PTCHD1AS1; PTCHD1AS2
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See PTCHD1-AS in Genome Data Viewer
    Location:
    Xp22.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (22193005..23293146, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (21776342..22876714, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (22211122..23311263, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29487 Neighboring gene spermine synthase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29488 Neighboring gene phosphate regulating endopeptidase X-linked Neighboring gene PHEX antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22383141-22384340 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22417737-22418936 Neighboring gene Cbl proto-oncogene like 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22450970-22452169 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:22463802-22464451 Neighboring gene methyltransferase like 15 pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:22544316-22545515 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:22552803-22552990 Neighboring gene RNA, U6 small nuclear 266, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22968225-22969424 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23111444-23111682 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23155798-23156034 Neighboring gene DEAD-box helicase 53 Neighboring gene FAM3C pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:23256953-23257600 Neighboring gene PDCL2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20702 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:23362831-23363330 Neighboring gene HIKESHI pseudogene 1 Neighboring gene patched domain containing 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:23523568-23524107 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Noor A, et al. Sci Transl Med, 2010 Sep 15. PMID 20844286, Free PMC Article
    2. Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. Kerns SL, et al. Int J Radiat Oncol Biol Phys, 2010 Dec 1. PMID 20932654, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Other Names

    • DDX53 antisense RNA 1 (non-protein coding)
    • PHEX antisense RNA 1

    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.

    RNA

    1. NR_073010.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004673, DA355362, DA390816, Y10196

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      22193005..23293146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      21776342..22876714 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_046436.1: Suppressed sequence

      Description
      NR_046436.1: This RefSeq was permanently suppressed because the transcript aligns to the human genome with non-consensus splice sites which lack further support.
    Nucleotide Protein
    Heading Accession and Version

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