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    GTF2IP1 general transcription factor IIi pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 2970, updated on 22-Oct-2024

    Summary

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    Official Symbol
    GTF2IP1provided by HGNC
    Official Full Name
    general transcription factor IIi pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:4660
    See related
    Ensembl:ENSG00000290871 AllianceGenome:HGNC:4660
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WBSCR7
    Expression
    Ubiquitous expression in brain (RPKM 127.2), thyroid (RPKM 95.5) and 25 other tissues See more
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    Genomic context

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    See GTF2IP1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75185383..75237705, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76389248..76441624, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74601104..74653454, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Williams-Beuren syndrome telomeric block B recombination region Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74267014-74267744 Neighboring gene GTF2I repeat domain containing 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74578607-74579107 Neighboring gene neutrophil cytosolic factor 1C (pseudogene) Neighboring gene uncharacterized LOC107986710 Neighboring gene PHB1 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18293 Neighboring gene speedy/RINGO cell cycle regulator family member E14 Neighboring gene speedy/RINGO cell cycle regulator family member E13 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 13

    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. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Pérez Jurado LA, et al. Hum Mol Genet, 1998 Mar. PMID 9466987
    2. Transcriptional fates of human-specific segmental duplications in brain. Dougherty ML, et al. Genome Res, 2018 Oct. PMID 30228200, Free PMC Article
    3. 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
    4. 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
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • Williams-Beuren syndrome chromosome region 7

    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_002206.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA576587, AC211470, AF036613, AK299175, BC045632, HY020270
      Related
      ENST00000622829.5

    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
      75185383..75237705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      76389248..76441624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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