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    ALMS1P1 ALMS1 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 200420, updated on 17-Sep-2024

    Summary

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    Official Symbol
    ALMS1P1provided by HGNC
    Official Full Name
    ALMS1 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:29586
    See related
    Ensembl:ENSG00000290727 AllianceGenome:HGNC:29586
    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
    ALMS1L; ALMS1P
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See ALMS1P1 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73644919..73685572)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73657993..73698673)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73872046..73912699)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ALMS1 centrosome and basal body associated protein Neighboring gene ALMS1 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73713947-73714466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:73737287-73738109 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 Neighboring gene N-acetyltransferase 8 (putative) Neighboring gene uncharacterized LOC112268418 Neighboring gene N-acetyltransferase 8B (putative, gene/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 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. Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. Tin A, et al. J Hum Genet, 2013 Jul. PMID 23535967, Free PMC Article
    2. Genetic loci influencing kidney function and chronic kidney disease. Chambers JC, et al. Nat Genet, 2010 May. PMID 20383145, Free PMC Article
    3. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article
    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. 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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genetic loci influencing kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    General gene information

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    Markers

    Other Names

    • ALMS1, centrosome and basal body associated protein pseudogene 1
    • Alstrom syndrome 1 pseudogene

    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_003683.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC092653, BC014492
      Related
      ENST00000450720.5

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      73644919..73685572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791766.1 Reference GRCh38.p14 PATCHES

      Range
      314417..355070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      73657993..73698673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145300.1: Suppressed sequence

      Description
      NM_145300.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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