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    CASC18 cancer susceptibility 18 [ Homo sapiens (human) ]

    Gene ID: 101929110, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CASC18provided by HGNC
    Official Full Name
    cancer susceptibility 18provided by HGNC
    Primary source
    HGNC:HGNC:49463
    See related
    Ensembl:ENSG00000257859 AllianceGenome:HGNC:49463
    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
    Low expression observed in reference dataset See more
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    Genomic context

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    See CASC18 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (105704203..105744063)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (105667013..105706864)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (106097981..106137841)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369958 Neighboring gene Sharpr-MPRA regulatory region 9585 Neighboring gene uncharacterized LOC124903006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105955477-105956256 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106022357-106023010 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:106091383-106092582 Neighboring gene uncharacterized LOC105369959 Neighboring gene uncharacterized LOC107984435 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:106133756-106134367 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:106134368-106134978 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:106138325-106138868 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:106170114-106170679 Neighboring gene uncharacterized LOC105369960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6944 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:106254933-106255434 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:106289604-106290350 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:106290351-106291097 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:106291098-106291844 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:106328523-106329722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:106348645-106349844 Neighboring gene ST13, Hsp70 interacting protein pseudogene 3

    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. Introduction of novel splice variants for CASC18 gene and its relation to the neural differentiation. Mehravar M, et al. Gene, 2017 Mar 1. PMID 27956168
    2. Association of CASC18/miR-20a-3p/TGFB2 ceRNA axis with occult lymph node metastasis in tongue squamous cell carcinoma. Zhou B, et al. Mol Med, 2021 Aug 6. PMID 34362313, Free PMC Article
    3. APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Ramanan VK, et al. Mol Psychiatry, 2014 Mar. PMID 23419831, Free PMC Article
    4. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of CASC18/miR-20a-3p/TGFB2 ceRNA axis with occult lymph node metastasis in tongue squamous cell carcinoma.
      Title: Association of CASC18/miR-20a-3p/TGFB2 ceRNA axis with occult lymph node metastasis in tongue squamous cell carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Other Names

    • cancer susceptibility 18 (non-protein coding)
    • cancer susceptibility candidate 18 (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_110108.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons compared to variant 1.
      Source sequence(s)
      AB849958
      Related
      ENST00000548557.1

    2. NR_110109.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AB849958, AB849961

    3. NR_110110.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate first exon and lacks two alternate exons compared to variant 1.
      Source sequence(s)
      AB849963

    4. NR_110111.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate first exon and lacks three alternate exons compared to variant 1.
      Source sequence(s)
      AC079851, AC084356

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      105704203..105744063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      105667013..105706864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Research Materials