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    PPIEL peptidylprolyl isomerase E like (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 728448, updated on 10-Oct-2023

    Summary

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    Official Symbol
    PPIELprovided by HGNC
    Official Full Name
    peptidylprolyl isomerase E like (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:33195
    See related
    Ensembl:ENSG00000291129 AllianceGenome:HGNC:33195
    Gene type
    pseudo
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPIEP1
    Summary
    This transcribed pseudogene is related to PPIE (Gene ID: 10450). Expression of this pseudogene may be downregulated in non-small cell lung cancer (NSCLC). Differential DNA methylation of this locus may be associated with intellectual disability and bipolar disorder in human patients. [provided by RefSeq, Sep 2016]
    Expression
    Broad expression in thyroid (RPKM 9.2), skin (RPKM 4.6) and 24 other tissues See more
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    Genomic context

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    Location:
    1p34.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39522280..39559698, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39390648..39428076, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (39987952..40025370, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein 8a Neighboring gene tRNA-Lys (anticodon CTT) 12-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39988287-39988788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:39988789-39989288 Neighboring gene 3-oxoacid CoA-transferase 2 pseudogene 1 Neighboring gene PABPC4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40036267-40036768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40036769-40037268 Neighboring gene poly(A) binding protein cytoplasmic 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 814 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 703 Neighboring gene small nucleolar RNA, H/ACA box 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7951 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7954 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_7957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 707 Neighboring gene hes related family bHLH transcription factor with YRPW motif like

    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. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Kagami M, et al. Genet Med, 2017 Apr. PMID 27632690, Free PMC Article
    2. RNA-Seq analysis of non-small cell lung cancer in female never-smokers reveals candidate cancer-associated long non-coding RNAs. Li J, et al. Pathol Res Pract, 2016 Jun. PMID 27067812
    3. Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. Docherty LE, et al. J Med Genet, 2014 Apr. PMID 24501229, Free PMC Article
    4. Aberrant DNA methylation associated with bipolar disorder identified from discordant monozygotic twins. Kuratomi G, et al. Mol Psychiatry, 2008 Apr. PMID 17471289
    5. Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype. Kolarova J, et al. Eur J Med Genet, 2015 Aug. PMID 26003415

    See all (8) citations in PubMed

    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)

    Genotypes

    General gene information

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    Markers

    Other Names

    • peptidylprolyl isomerase E (cyclophilin E) pseudogene 1

    Clone Names

    • FLJ35287, FLJ36340

    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_003929.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AI075765, AK092606, DA168720, DA449721

    2. NR_144354.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL365277
      Related
      ENST00000643783.1

    3. NR_144355.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL365277

    4. NR_144356.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL365277
      Related
      ENST00000331856.7

    5. NR_144357.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL365277
      Related
      ENST00000645296.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      39522280..39559698 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      39390648..39428076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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