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    SUZ12P1 SUZ12 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 440423, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SUZ12P1provided by HGNC
    Official Full Name
    SUZ12 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:32421
    See related
    AllianceGenome:HGNC:32421
    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
    SUZ12P
    Expression
    Ubiquitous expression in testis (RPKM 9.6), brain (RPKM 8.2) and 25 other tissues See more
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    Genomic context

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    See SUZ12P1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30709608..30792830)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31654592..31737805)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29036626..29119848)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SMURF2P1-LRRC37BP1 readthrough transcribed pseudogene Neighboring gene leucine rich repeat containing 37B pseudogene Neighboring gene leucine rich repeat containing 37B pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 474 Neighboring gene NF1-REPa PRS1 recombination region Neighboring gene uncharacterized LOC105371723 Neighboring gene NF1-REPa PRS2 recombination region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28993682-28994231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28994232-28994780 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:28994781-28995330 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29026421-29027394 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:29027395-29028368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29036042-29036718 Neighboring gene RNA, 7SL, cytoplasmic 316, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12001 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29058617-29059237 Neighboring gene SUZ12P1 PRS4 recombination region Neighboring gene cytokine receptor like factor 3 Neighboring gene Sharpr-MPRA regulatory region 4018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29157944-29158579 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29158580-29159216 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29159217-29159851 Neighboring gene ribosomal protein S17 pseudogene 3 Neighboring gene ATPase family AAA domain containing 5 Neighboring gene RNA, U6 small nuclear 298, 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. Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Steinmann K, et al. Am J Hum Genet, 2007 Dec. PMID 17999360, Free PMC Article
    2. RNF135 mutations are not present in patients with Sotos syndrome-like features. Visser R, et al. Am J Med Genet A, 2009 Feb 15. PMID 19291764
    3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    4. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: RNF135 mutations are not present in patients with Sotos syndrome-like features.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • SUZ12 polycomb repressive complex 2 subunit pseudogene 1
    • suppressor of zeste 12 homolog pseudogene 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_024187.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005562, AC127024, BM689948

    2. NR_144393.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC127024, BC041912, CA433099

    3. NR_144394.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC127024, AW137408, BG546178, CA433099

    4. NR_144395.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC127024, AW137408, BG546178, CA433099

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30709608..30792830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31654592..31737805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_005675.2: Suppressed sequence

      Description
      NG_005675.2: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.

    2. NG_026240.1: Suppressed sequence

      Description
      NG_026240.1: 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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