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    LOH12CR2 loss of heterozygosity on chromosome 12, region 2 [ Homo sapiens (human) ]

    Gene ID: 503693, updated on 22-Oct-2024

    Summary

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    Official Symbol
    LOH12CR2provided by HGNC
    Official Full Name
    loss of heterozygosity on chromosome 12, region 2provided by HGNC
    Primary source
    HGNC:HGNC:26524
    See related
    Ensembl:ENSG00000205791 AllianceGenome:HGNC:26524
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LOH2CR12
    Expression
    Ubiquitous expression in brain (RPKM 2.2), thyroid (RPKM 1.4) and 23 other tissues See more
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    Genomic context

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    See LOH12CR2 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12355408..12357067, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12224539..12226197, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12508342..12510001, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 318, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12478241-12478741 Neighboring gene MANSC domain containing 1 Neighboring gene ribosomal protein L23a pseudogene 66 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4252 Neighboring gene CRISPRi-validated cis-regulatory element chr12.586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12509797-12510475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6011 Neighboring gene BLOC-1 related complex subunit 5 Neighboring gene Sharpr-MPRA regulatory region 10643 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12560630-12560819 Neighboring gene Sharpr-MPRA regulatory region 7135 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:12592110-12593309 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25257 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12610012-12610690 Neighboring gene dual specificity phosphatase 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12686984-12687949 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12688131-12688632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4258

    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. Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia. Montpetit A, et al. Leukemia, 2004 Sep. PMID 15284860
    2. A detailed transcriptional map of the chromosome 12p12 tumour suppressor locus. Montpetit A, et al. Eur J Hum Genet, 2002 Jan. PMID 11896457

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • loss of heterozygosity, 12, chromosomal region 2 (non-protein coding)

    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_024061.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY037867, BE645784
      Related
      ENST00000381800.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      12355408..12357067 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332696.1 Reference GRCh38.p14 PATCHES

      Range
      324406..326065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      12224539..12226197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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

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