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    TMEM246-AS1 TMEM246 antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 101928470, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM246-AS1provided by HGNC
    Official Full Name
    TMEM246 antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:51191
    See related
    Ensembl:ENSG00000225376 AllianceGenome:HGNC:51191
    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
    Broad expression in brain (RPKM 46.3), heart (RPKM 17.6) and 17 other tissues See more
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    Genomic context

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    See TMEM246-AS1 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (101468439..101481506)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (113639743..113652826)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (104230721..104243788)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28725 Neighboring gene uncharacterized LOC105376184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20142 Neighboring gene aldolase, fructose-bisphosphate B Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104223504-104224020 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:104224021-104224537 Neighboring gene NFE2L2 motif-containing MPRA enhancer 257 Neighboring gene post-GPI attachment to proteins GalNAc transferase 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:104275376-104275886 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:104275887-104276395 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:104276396-104276905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:104286647-104287146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28726 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:104316489-104316706 Neighboring gene ring finger protein 20 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28727 Neighboring gene glutamate ionotropic receptor NMDA type subunit 3A Neighboring gene protein phosphatase 3 regulatory subunit B, beta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. Ritchie MD, et al. Mol Vis, 2014. PMID 25352737, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
    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)

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_121573.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AL353621
      Related
      ENST00000450109.5

    2. NR_121574.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and contains an alternate 5' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AL353621
      Related
      ENST00000425734.1

    3. NR_121575.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks three exons and contains an alternate 5' terminal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AL353621
      Related
      ENST00000431507.5

    4. NR_121576.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an internal exon, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      AL353621

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      101468439..101481506
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      113639743..113652826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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