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    TBC1D3P5 TBC1 domain family member 3 pseudogene 5 [ Homo sapiens (human) ]

    Gene ID: 440419, updated on 10-Oct-2023

    Summary

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    Official Symbol
    TBC1D3P5provided by HGNC
    Official Full Name
    TBC1 domain family member 3 pseudogene 5provided by HGNC
    Primary source
    HGNC:HGNC:43567
    See related
    Ensembl:ENSG00000290422 AllianceGenome:HGNC:43567
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Restricted expression toward testis (RPKM 1.0) See more
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    Genomic context

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    Location:
    17q11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (27418005..27431623)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (28359477..28373095)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (25745031..25758649)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903957 Neighboring gene uncharacterized LOC124903958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8326 Neighboring gene synaptophysin like 1 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:25730235-25730734 Neighboring gene uncharacterized LOC105371705 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:25783139-25783640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25787154-25787857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25788561-25789264 Neighboring gene Sharpr-MPRA regulatory region 12448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11901 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25798863-25799627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25799628-25800392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25802427-25802940 Neighboring gene Sharpr-MPRA regulatory region 12304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25806167-25806668 Neighboring gene kinase suppressor of ras 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11905 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:25830813-25832012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25833398-25833995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25838597-25839125 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25840412-25841256 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25841257-25842099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:25846538-25847174 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:25859917-25860102 Neighboring gene MSANTD3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25865210-25866051 Neighboring gene uncharacterized LOC124903960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25867223-25868022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25869832-25870332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:25870333-25870833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8329

    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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    Other Names

    • TBC1 domain family, member 3H pseudogene

    Clone Names

    • MGC133239

    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_033892.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090615
      Related
      ENST00000586223.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      27418005..27431623
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      28359477..28373095
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_026232.1: Suppressed sequence

      Description
      NG_026232.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.