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    NUTM2B-AS1 NUTM2B antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 101060691, updated on 22-Oct-2024

    Summary

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    Official Symbol
    NUTM2B-AS1provided by HGNC
    Official Full Name
    NUTM2B antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:51204
    See related
    Ensembl:ENSG00000225484 MIM:618639; AllianceGenome:HGNC:51204
    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
    OPML1
    Expression
    Ubiquitous expression in testis (RPKM 2.4), thyroid (RPKM 2.2) and 25 other tissues See more
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    Genomic context

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    See NUTM2B-AS1 in Genome Data Viewer
    Location:
    10q22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (79691500..79826594, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (80560802..80695938, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81451256..81586350, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2679 Neighboring gene uncharacterized LOC124900288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81443548-81444475 Neighboring gene BEN domain containing 3 pseudogene 3 Neighboring gene NUT family member 2B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:81471387-81471887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:81585381-81585979 Neighboring gene uncharacterized LOC642361 Neighboring gene NUT family member 2E Neighboring gene putative UPF0607 protein FLJ37424 pseudogene

    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. CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy. Shi Y, et al. J Genet Genomics, 2024 Feb. PMID 38159879
    2. Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy. Gu X, et al. J Med Genet, 2024 Mar 21. PMID 37923380
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
      Title: Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy.
    2. CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.
      Title: CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Oculopharyngeal myopathy with leukoencephalopathy 1
    MedGen: C5231436 OMIM: 618637 GeneReviews: Not available
    		Compare labs

    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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    Markers

    Clone Names

    • FLJ34425

    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_120611.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AL132656, BQ425131, CN279211, CN279213
      Related
      ENST00000665716.2

    2. NR_120612.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      BQ425131, CA312311, CB163469, CN279211
      Related
      ENST00000807205.1

    3. NR_120613.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' exon structure, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      BQ425131, BQ774387, CN279211
      Related
      ENST00000601369.7

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      79691500..79826594 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      80560802..80695938 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Molecular Biology Databases
    Research Materials