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    RBAK-RBAKDN RBAK-RBAKDN readthrough [ Homo sapiens (human) ]

    Gene ID: 100533952, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RBAK-RBAKDNprovided by HGNC
    Official Full Name
    RBAK-RBAKDN readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42971
    See related
    Ensembl:ENSG00000272968 AllianceGenome:HGNC:42971
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RBAK; hRBaK; ZNF769; RBAK-LOC389458
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring RBAK (RB-associated KRAB zinc finger) and LOC389458 (hypothetical LOC389458) genes on chromosome 7. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Mar 2011]
    Expression
    Biased expression in testis (RPKM 37.8) and appendix (RPKM 1.0) See more
    Orthologs
    all
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    Genomic context

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    See RBAK-RBAKDN in Genome Data Viewer
    Location:
    7p22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (5045860..5073221)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5163659..5191015)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5085491..5112852)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5013544-5014142 Neighboring gene ring finger protein 216 pseudogene 1 Neighboring gene uncharacterized LOC105375134 Neighboring gene speedy/RINGO cell cycle regulator family member E19, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25569 Neighboring gene RB associated KRAB zinc finger Neighboring gene RBAK downstream neighbor Neighboring gene MPRA-validated peak6353 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr7:5157553-5157711 Neighboring gene olfactory receptor family 10 subfamily AH member 1 pseudogene Neighboring gene zinc finger protein 890, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25570

    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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
    2. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    RBAK-RBAKDN readthrough
    Names
    RB-associated KRAB repressor
    RB-associated KRAB zinc finger protein
    RBAK-LOC389458 readthrough
    Zinc finger protein 769

    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.

    mRNA and Protein(s)

    1. NM_001204513.3 → NP_001191442.1  RBAK-RBAKDN readthrough

      Status: VALIDATED

      Source sequence(s)
      AC092032, BM929719
      UniProtKB/TrEMBL
      A0A0A6YYG8
      Related
      ENSP00000380112.2, ENST00000396904.2
      Conserved Domains (2) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      pfam01352
      Location:8 → 47
      KRAB; KRAB box

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      5045860..5073221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      5163659..5191015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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