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    GTF2IRD2P1 GTF2I repeat domain containing 2 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 401375, updated on 17-Sep-2024

    Summary

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    Official Symbol
    GTF2IRD2P1provided by HGNC
    Official Full Name
    GTF2I repeat domain containing 2 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:33127
    See related
    Ensembl:ENSG00000214544 AllianceGenome:HGNC:33127
    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
    GTF2IRD2P
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    Genomic context

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    See GTF2IRD2P1 in Genome Data Viewer
    Location:
    7q11.23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73242751..73280119, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74442958..74480301, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72656784..72694144, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene general transcription factor IIi pseudogene 4 Neighboring gene Williams-Beuren syndrome centromeric block B recombination region Neighboring gene PHB1 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74598481-74598982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74591815-74592314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:74591313-74591814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72632401-72632902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18245 Neighboring gene neutrophil cytosolic factor 1B (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72661597-72662585 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:72698447-72699037 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72711681-72712181 Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene NOP2/Sun RNA methyltransferase 5 Neighboring gene ribosomal protein L7a pseudogene 77 Neighboring gene tripartite motif containing 50

    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. Potential role of differentially expressed lncRNAs in the pathogenesis of oral squamous cell carcinoma. Zhang S, et al. Arch Oral Biol, 2015 Oct. PMID 26276270
    2. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. Tipney HJ, et al. Eur J Hum Genet, 2004 Jul. PMID 15100712

    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

    • GTF2IRD2 pseudogene
    • general transcription factor II i repeat domain 2 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.

    Genomic

    1. NG_033736.1 

      Range
      101..37469
      Download
      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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73242751..73280119 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74442958..74480301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_002164.1: Suppressed sequence

      Description
      NR_002164.1: This RefSeq was permanently suppressed because there is insufficient evidence that this locus is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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