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    PKD1P6-NPIPP1 PKD1P6-NPIPP1 readthrough [ Homo sapiens (human) ]

    Gene ID: 105369154, updated on 22-May-2024

    Summary

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    Gene symbol
    PKD1P6-NPIPP1
    Gene description
    PKD1P6-NPIPP1 readthrough
    See related
    Ensembl:ENSG00000290394
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This locus represents naturally-occurring readthrough transcription between two unprocessed pseudogenes, PKD1P6 (polycystic kidney disease 1 (autosomal dominant) pseudogene 6) and NPIPP1 (nuclear pore complex interacting protein pseudogene 1). The individual pseudogene loci are not curated as transcribed regions. Readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in skin (RPKM 36.1), ovary (RPKM 33.7) and 25 other tissues See more
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    Genomic context

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    See PKD1P6-NPIPP1 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15104723..15131601, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15105353..15141806, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15198580..15225458, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene pyridoxal dependent decarboxylase domain containing 1 Neighboring gene N-terminal asparagine amidase Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15149302-15149486 Neighboring gene MPRA-validated peak2507 silencer Neighboring gene RRN3 homolog, RNA polymerase I transcription factor Neighboring gene Sharpr-MPRA regulatory region 13846 Neighboring gene uncharacterized LOC100505915 Neighboring gene nuclear pore complex interacting protein pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15231552-15232159 Neighboring gene polycystin 1, transient receptor potential channel interacting pseudogene 6 Neighboring gene microRNA 6511b-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15240089-15241062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:15243079-15243774 Neighboring gene microRNA 3180-4

    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. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Bogdanova N, et al. Genomics, 2001 Jun 15. PMID 11414761
    2. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. . Cell, 1994 Jun 17. PMID 8004675
    3. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
    4. 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
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) 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)

    Genotypes

    General gene information

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    Other Names

    • polycystin-1-like

    Clone Names

    • FLJ00285, FLJ00286, FLJ13314, FLJ56864, FLJ56874

    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_123721.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. It is likely transcribed from the ALT_REF_LOCI_1 haplotype and not the primary reference haplotype.
      Source sequence(s)
      AA308851, AK131084, DA094542, DA095374, HY148638

    2. NR_123722.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) is shorter at the 5' and 3' ends and uses an alternate internal splice site, relative to variant 1.
      Source sequence(s)
      AK302708
      Related
      ENST00000605794.5

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      15104723..15131601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      525549..565370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      15105353..15141806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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