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    DIRC1 disrupted in renal carcinoma 1 [ Homo sapiens (human) ]

    Gene ID: 116093, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DIRC1provided by HGNC
    Official Full Name
    disrupted in renal carcinoma 1provided by HGNC
    Primary source
    HGNC:HGNC:15760
    See related
    MIM:606423; AllianceGenome:HGNC:15760
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See DIRC1 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (188733738..188790123, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (189222651..189279027, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (189598465..189654850, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189163339-189164538 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:189167937-189168854 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:189168855-189169772 Neighboring gene microRNA 561 Neighboring gene GULP PTB domain containing engulfment adaptor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:189260185-189260684 Neighboring gene uncharacterized LOC124906107 Neighboring gene uncharacterized LOC105373790 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:189538838-189539338 Neighboring gene uncharacterized LOC105373791 Neighboring gene microRNA 1245a Neighboring gene microRNA 1245b Neighboring gene collagen type III alpha 1 chain Neighboring gene microRNA 3606

    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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    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Other Names

    • disrupted in renal cancer protein

    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_027691.1 RefSeqGene

      Range
      4982..61367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. NR_161166.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC079613

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      188733738..188790123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      189222651..189279027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_052952.3: Suppressed sequence

      Description
      NM_052952.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969H9.1 GenPept UniProtKB/Swiss-Prot:Q969H9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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