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    GTF2I-AS1 GTF2I antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 101926943, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GTF2I-AS1provided by HGNC
    Official Full Name
    GTF2I antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:55572
    See related
    Ensembl:ENSG00000232729 AllianceGenome:HGNC:55572
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in thyroid (RPKM 34.1), brain (RPKM 24.0) and 25 other tissues See more
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    Genomic context

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    See GTF2I-AS1 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74688937..74728918, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75891216..75931204, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74103271..74143256, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 Neighboring gene Williams-Beuren syndrome chromosome region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73995345-73995846 Neighboring gene Sharpr-MPRA regulatory region 2459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74001529-74002116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74002117-74002703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031162-74031727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031728-74032292 Neighboring gene microRNA 10525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74075507-74076155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26175 Neighboring gene general transcription factor IIi Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74181785-74182286 Neighboring gene PHB1 pseudogene 15 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74186639-74187184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74201830-74202532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74203411-74204070 Neighboring gene neutrophil cytosolic factor 1

    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. A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. Li Y, et al. Nat Genet, 2013 Nov. PMID 24097066
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. 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

    EBI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Homology

    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_110044.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI240430, DA836308
      Related
      ENST00000789979.1

    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
      74688937..74728918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75891216..75931204 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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