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

Gene ID: 106865373, updated on 10-Oct-2023

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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Location:
21q22.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39380326..39515504)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37764912..37900124)
105.20220307 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
  • 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)

Genotypes

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_2023_10

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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