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

Gene ID: 729522, updated on 10-Oct-2023

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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Location:
5q35.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (178764861..178818435, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (179318154..179371709, complement)
105.20220307 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
  • 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_2023_10

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

Gene LinkOut

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