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    GTF2H2B general transcription factor IIH subunit 2B (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 653238, updated on 17-Sep-2024

    Summary

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    Official Symbol
    GTF2H2Bprovided by HGNC
    Official Full Name
    general transcription factor IIH subunit 2B (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:31393
    See related
    AllianceGenome:HGNC:31393
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Annotation information
    Note: This locus contains a 2 nt deletion in a splice site compared to very similar paralogous loci, resulting in exon skipping and a frameshift in the CDS. Consequently, this locus is now considered to be a transcribed pseudogene. It is possible that the deletion is polymorphic within the population, and the gene may be functional in some individuals. [13 Feb 2013]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), thyroid (RPKM 9.3) and 25 other tissues See more
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    Genomic context

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    See GTF2H2B in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (70415370..70450362)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (69711197..69746189)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GUSB pseudogene 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69543827-69544328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69544329-69544828 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene uncharacterized LOC105379021 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:69696534-69697340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:69697341-69698145 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr5:69711172-69711802 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:69711803-69712431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:69712702-69713202 Neighboring gene NAIP pseudogene 1 Neighboring gene POM121 membrane glycoprotein (rat) pseudogene Neighboring gene GUSB pseudogene 15

    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. Lineage-specific gene duplication and loss in human and great ape evolution. Fortna A, et al. PLoS Biol, 2004 Jul. PMID 15252450, Free PMC Article
    2. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. 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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • general transcription factor IIH, polypeptide 2B (pseudogene)

    Clone Names

    • MGC198634, DKFZp686M0199, DKFZp686P18101

    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_033417.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC145034, AC146944, BC171919

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      70415370..70450362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      1414441..1449448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001098729.1: Suppressed sequence

      Description
      NM_001098729.1: 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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