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    DSCR8 Down syndrome critical region 8 [ Homo sapiens (human) ]

    Gene ID: 84677, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DSCR8provided by HGNC
    Official Full Name
    Down syndrome critical region 8provided by HGNC
    Primary source
    HGNC:HGNC:16707
    See related
    Ensembl:ENSG00000198054 MIM:613396; AllianceGenome:HGNC:16707
    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
    MMA1; MMA-1; MTAG2; MMA-1a; MMA-1b; CT25.1a; CT25.1b; C21orf65
    Expression
    Restricted expression toward testis (RPKM 8.9) See more
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    Genomic context

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    See DSCR8 in Genome Data Viewer
    Location:
    21q22.13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38121451..38156511)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (36505350..36540417)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (39493545..39528605)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene potassium inwardly rectifying channel subfamily J member 6 Neighboring gene uncharacterized LOC101928368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:39127657-39128504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39200662-39201384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:39201385-39202107 Neighboring gene VISTA enhancer hs1811 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:39261680-39261872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:39345582-39346781 Neighboring gene Down syndrome critical region 4 Neighboring gene uncharacterized LOC124905020 Neighboring gene Sharpr-MPRA regulatory region 8394 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The MMA1 gene family of cancer-testis antigens has multiple alternative splice variants: characterization of their expression profile, the genomic organization, and transcript properties. de Wit NJ, et al. Genes Chromosomes Cancer, 2005 Jan. PMID 15472897
    2. Comparative genomic sequence analysis of the human chromosome 21 Down syndrome critical region. Toyoda A, et al. Genome Res, 2002 Sep. PMID 12213769, Free PMC Article
    3. Expression profiling of MMA-1a and splice variant MMA-1b: new cancer/testis antigens identified in human melanoma. de Wit NJ, et al. Int J Cancer, 2002 Apr 1. PMID 11920614
    4. Long non-coding RNA DSCR8 acts as a molecular sponge for miR-485-5p to activate Wnt/β-catenin signal pathway in hepatocellular carcinoma. Wang Y, et al. Cell Death Dis, 2018 Aug 28. PMID 30154476, Free PMC Article
    5. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. Dahmane N, et al. Genomics, 1998 Feb 15. PMID 9503011

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DSCR8 activates Wnt/beta-catenin signal pathway to promote HCC progression by DSCR8/miR-485-5p/FZD7 axis.
      Title: Long non-coding RNA DSCR8 acts as a molecular sponge for miR-485-5p to activate Wnt/β-catenin signal pathway in hepatocellular carcinoma.
    2. MMA1 and also MMA1C, -1D, and -1E are members of the cancer-testis antigen family.
      Title: The MMA1 gene family of cancer-testis antigens has multiple alternative splice variants: characterization of their expression profile, the genomic organization, and transcript properties.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • Down syndrome critical region 8 (non-protein coding)
    • Down syndrome critical region gene 8
    • cancer/testis antigen family 25, member 1a
    • cancer/testis antigen family 25, member 1b
    • malignant melanoma associated protein 1
    • malignant melanoma-associated 1
    • melanoma-testis-associated protein 2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    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_026838.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript.
      Source sequence(s)
      AJ783421, BC029353, BG189423
      Related
      ENST00000465532.5

    2. NR_026839.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon, compared to variant 4.
      Source sequence(s)
      AJ305085, BC029353, BG189423
      Related
      ENST00000478613.5

    3. NR_026840.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses two alternate splice sites, compared to variant 4.
      Source sequence(s)
      AJ306839, BC029353, BG189423
      Related
      ENST00000357704.8

    4. NR_026841.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate splice site, compared to variant 4.
      Source sequence(s)
      AJ297914, BC029353, BG189423
      Related
      ENST00000400477.7

    5. NR_026842.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon, compared to variant 4.
      Source sequence(s)
      BC015981, BC029353, BG189423
      Related
      ENST00000469658.5

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      38121451..38156511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      36505350..36540417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032589.2: Suppressed sequence

      Description
      NM_032589.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NM_203428.1: Suppressed sequence

      Description
      NM_203428.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    3. NM_203429.1: Suppressed sequence

      Description
      NM_203429.1: This RefSeq was permanently suppressed 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
    Q96T75.2 GenPept UniProtKB/Swiss-Prot:Q96T75

    Gene LinkOut

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

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