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    AACSP1 acetoacetyl-CoA synthetase pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 729522, updated on 17-Sep-2024

    Summary

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    Official Symbol
    AACSP1provided by HGNC
    Official Full Name
    acetoacetyl-CoA synthetase pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:18226
    See related
    Ensembl:ENSG00000291019 AllianceGenome:HGNC:18226
    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
    AACSL
    Expression
    Restricted expression toward testis (RPKM 1.9) See more
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    Genomic context

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    See AACSP1 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (178764861..178818435, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (179318154..179371709, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (178191862..178245436, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Myb/SANT DNA binding domain containing 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:178150344-178150844 Neighboring gene MPRA-validated peak5604 silencer Neighboring gene zinc finger protein 354A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16723 Neighboring gene CRISPRi-validated cis-regulatory element chr5.4957 Neighboring gene Sharpr-MPRA regulatory region 5461 Neighboring gene coiled-coil domain containing 86 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:178286804-178287536 Neighboring gene uncharacterized LOC107986493 Neighboring gene zinc finger protein 354B

    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 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. 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

    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

    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_024035.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, resulting in a shorter transcript than variant 1.
      Source sequence(s)
      AC113348, AC126915, BC024222
      Related
      ENST00000503486.6

    2. NR_135095.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) reprsents the longer transcript.
      Source sequence(s)
      AC113348, AC126915, BC024222, BC140764

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      178764861..178818435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      179318154..179371709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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