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    DTX2P1-UPK3BP1-PMS2P11 DTX2P1-UPK3BP1-PMS2P11 readthrough, transcribed pseudogene [ Homo sapiens (human) ]

    Gene ID: 441263, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DTX2P1-UPK3BP1-PMS2P11provided by HGNC
    Official Full Name
    DTX2P1-UPK3BP1-PMS2P11 readthrough, transcribed pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:42360
    See related
    Ensembl:ENSG00000265479 AllianceGenome:HGNC:42360
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PMS2L11
    Summary
    This locus represents naturally-occurring readthrough transcription spanning multiple pseudogenes: DTX2P1 (DTX2 pseudogene 1), UPK3BP1 (uroplakin 3B pseudogene 1), PMS2P11 (PMS1 homolog 2, mismatch repair system component pseudogene 11). Some transcripts may also extend to PMS2P9 (PMS1 homolog 2, mismatch repair system component pseudogene 9). The readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in testis (RPKM 9.8), skin (RPKM 7.6) and 25 other tissues See more
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    Genomic context

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    See DTX2P1-UPK3BP1-PMS2P11 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (76980822..77023761)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (78259443..78302900)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (76610139..76653078)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76583582-76584448 Neighboring gene MPRA-validated peak6614 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:76586180-76587044 Neighboring gene DTX2 pseudogene 1 Neighboring gene farnesyl diphosphate synthase pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76612883-76613456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76628288-76629118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76629119-76629947 Neighboring gene Sharpr-MPRA regulatory region 3059 Neighboring gene uroplakin 3B pseudogene 1 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 11 Neighboring gene speedy/RINGO cell cycle regulator family member E17 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 9 Neighboring gene speedy/RINGO cell cycle regulator family member E18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:76693975-76694649 Neighboring gene SNF2 related chromatin remodeling ATPase 5 pseudogene

    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
    • 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. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. Osborne LR, et al. Genomics, 1997 Oct 15. PMID 9344666
    2. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. Horii A, et al. Biochem Biophys Res Commun, 1994 Nov 15. PMID 7980603
    3. Genomic organization of the human PMS2 gene family. Nicolaides NC, et al. Genomics, 1995 Nov 20. PMID 8586419
    4. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Speliotes EK, et al. Nat Genet, 2010 Nov. PMID 20935630, Free PMC Article
    5. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article

    See all (10) citations in PubMed

    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
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding)
    • PMS2-DTX2-UPK3B pseudogene

    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_023383.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC114737, BC015750, BP230837
      Related
      ENST00000584900.5

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      76980822..77023761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      78259443..78302900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_026599.1: Suppressed sequence

      Description
      NG_026599.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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