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    ERI3-IT1 ERI3 intronic transcript 1 [ Homo sapiens (human) ]

    Gene ID: 100874278, updated on 17-Sep-2024

    Summary

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    Official Symbol
    ERI3-IT1provided by HGNC
    Official Full Name
    ERI3 intronic transcript 1provided by HGNC
    Primary source
    HGNC:HGNC:41431
    See related
    Ensembl:ENSG00000233602 AllianceGenome:HGNC:41431
    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 testis (RPKM 1.7), endometrium (RPKM 0.7) and 20 other tissues See more
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    Genomic context

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    See ERI3-IT1 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44222595..44244283, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44093485..44115174, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44688267..44709955, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene metaxin 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 807 Neighboring gene Sharpr-MPRA regulatory region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44679987-44680488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44680489-44680988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 808 Neighboring gene DNA methyltransferase 1 associated protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44703705-44704348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44705759-44706387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44706388-44707016 Neighboring gene ERI1 exoribonuclease family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44714707-44715318 Neighboring gene VISTA enhancer hs277 Neighboring gene small nucleolar RNA, H/ACA box 110 Neighboring gene Sharpr-MPRA regulatory region 3045 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8150 Neighboring gene NANOG hESC enhancer GRCh37_chr1:44805333-44805834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44820763-44821263 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:44834096-44834628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8167 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44839934-44840144 Neighboring gene RNA, U6 small nuclear 369, 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 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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    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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    Other Names

    • ERI3 intronic transcript 1 (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_046817.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL035417
      Related
      ENST00000414156.1

    2. NR_110056.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and contains three alternate 3' exons, resulting in a shorter transcript, compared to variant 1.
      Source sequence(s)
      DB453456

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      44222595..44244283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      44093485..44115174 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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    Research Materials