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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)

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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