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    GET1-SH3BGR GET1-SH3BGR readthrough [ Homo sapiens (human) ]

    Gene ID: 106865373, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GET1-SH3BGRprovided by HGNC
    Official Full Name
    GET1-SH3BGR readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:54635
    See related
    Ensembl:ENSG00000285815 AllianceGenome:HGNC:54635
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WRB-SH3BGR
    Summary
    This locus represents naturally occurring readthrough transcription between the neighboring WRB (tryptophan rich basic protein) and SH3BGR (SH3 domain binding glutamate-rich protein) genes on chromosome 21. Readthrough transcripts may encode fusion proteins that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]
    Expression
    Broad expression in heart (RPKM 36.2), testis (RPKM 14.5) and 22 other tissues See more
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    Genomic context

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    See GET1-SH3BGR in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39380326..39515504)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37764912..37900124)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40752252..40887431)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372804 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40723570-40723774 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40731973-40732197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18469 Neighboring gene ring finger protein 6 pseudogene 1 Neighboring gene guided entry of tail-anchored proteins factor 1 Neighboring gene Sharpr-MPRA regulatory region 12540 Neighboring gene lebercilin LCA5 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40823338-40823876 Neighboring gene microRNA 6508 Neighboring gene SH3 domain binding glutamate rich protein Neighboring gene ribosomal protein S26 pseudogene 4 Neighboring gene MYL6 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40899605-40900600 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:40907492-40908386 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40909281-40910174 Neighboring gene JCAD pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr21:40923594-40924095 Neighboring gene NANOG hESC enhancer GRCh37_chr21:40931347-40931936 Neighboring gene B3GALT5 antisense RNA 1

    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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    Related articles in PubMed

    1. Functional characterization of BC039389-GATM and KLK4-KRSP1 chimeric read-through transcripts which are up-regulated in renal cell cancer. Pflueger D, et al. BMC Genomics, 2015 Mar 27. PMID 25888189, Free PMC Article
    2. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    General gene information

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    Homology

    General protein information

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    Preferred Names
    WRB-SH3BGR readthrough

    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.

    mRNA and Protein(s)

    1. NM_001317744.2 → NP_001304673.1  WRB-SH3BGR readthrough isoform 1

      Status: VALIDATED

      Source sequence(s)
      AF064861, AF121897, CD514470
      UniProtKB/TrEMBL
      A0A3B3ITX9
      Related
      ENSP00000497977.1, ENST00000647779.1
      Conserved Domains (2) summary
      pfam04420
      Location:17 → 111
      CHD5; CHD5-like protein
      cl00388
      Location:112 → 195
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    2. NM_001350300.2 → NP_001337229.1  WRB-SH3BGR readthrough isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF064861, AF121897, BI464128, KM576719
      Conserved Domains (2) summary
      pfam04420
      Location:17 → 111
      CHD5; CHD5-like protein
      cl00388
      Location:112 → 195
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RNA

    1. NR_146618.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF064861, AF121781, AF121897
      Related
      ENST00000648253.1

    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
      39380326..39515504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37764912..37900124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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