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    TIMM8AP1 translocase of inner mitochondrial membrane 8A pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 399520, updated on 17-Sep-2024

    Summary

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    Official Symbol
    TIMM8AP1provided by HGNC
    Official Full Name
    translocase of inner mitochondrial membrane 8A pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:17802
    See related
    AllianceGenome:HGNC:17802
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DDPP; TIMM8AP
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    Genomic context

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    See TIMM8AP1 in Genome Data Viewer
    Location:
    2q24.2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (162076515..162077711, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (162533152..162534348, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (162933025..162934221, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 4 member 10 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:162854969-162855469 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54939 Neighboring gene dipeptidyl peptidase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16715 Neighboring gene Sharpr-MPRA regulatory region 3711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12061 Neighboring gene DPP4 promoter region Neighboring gene DPP4 -4.2 kb glucocorticoid response element Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:162949234-162950433 Neighboring gene DPP4 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 10348 Neighboring gene uncharacterized LOC101929532 Neighboring gene EIF3E pseudogene 2 Neighboring gene GCG promoter region Neighboring gene glucagon

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Jin H, et al. Nat Genet, 1996 Oct. PMID 8841189

    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)

    General gene information

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    Markers

    Other Names

    • deafness dystonia pseudogene
    • translocase of inner mitochondrial membrane 8 homolog A 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.

    Genomic

    1. NG_003187.3 

      Range
      101..1297
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      GenBank, FASTA, Sequence Viewer (Graphics)

    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
      162076515..162077711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      162533152..162534348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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