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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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See PPIEL in Genome Data Viewer
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

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