U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

FRG1BP FSHD region gene 1 family member B, pseudogene [ Homo sapiens (human) ]

Gene ID: 284802, updated on 22-Oct-2024

Summary

Go to the top of the page Help
Official Symbol
FRG1BPprovided by HGNC
Official Full Name
FSHD region gene 1 family member B, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:15792
See related
Ensembl:ENSG00000287288 AllianceGenome:HGNC:15792
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FRG1B; C20orf80; bA348I14.2
Expression
Ubiquitous expression in thyroid (RPKM 14.6), brain (RPKM 13.9) and 25 other tissues See more
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See FRG1BP in Genome Data Viewer
Location:
20q11.1-q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (30377164..30419843)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (30373658..30416456, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29611840..29653908)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372586 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:29556392-29556584 Neighboring gene family with sequence similarity 242 member A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:29618678-29619179 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:29645466-29645978 Neighboring gene Sharpr-MPRA regulatory region 7852 Neighboring gene MLLT10 pseudogene 1 Neighboring gene RNA, 5.8S ribosomal pseudogene Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene RNA, 18S ribosomal pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21. An Q, et al. Haematologica, 2009 Aug. PMID 19586940, Free PMC Article
  2. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
  3. TBK1 phosphorylation activates LIR-dependent degradation of the inflammation repressor TNIP1. Zhou J, et al. J Cell Biol, 2023 Feb 6. PMID 36574265, Free PMC Article
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
  5. Panorama of ancient metazoan macromolecular complexes. Wan C, et al. Nature, 2015 Sep 17. PMID 26344197, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data show that sequences 3' of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3' of FRG1B and LOC1499503.
    Title: Heterogeneous breakpoints in patients with acute lymphoblastic leukemia and the dic(9;20)(p11-13;q11) show recurrent involvement of genes at 20q11.21.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Other Names

  • FSHD region gene 1 family, member B

Clone Names

  • MGC72104

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_003579.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' terminal exon resulting in a shorter transcript, compared to variant 1.
    Source sequence(s)
    BC062724, BU675133, DA215301
    Related
    ENST00000829750.1

  2. NR_145491.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    ABBA01015426, AL441988, AW189365, BC095491, DA215301

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    30377164..30419843
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    30373658..30416456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207350.1: Suppressed sequence

    Description
    NM_207350.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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.

Molecular Biology Databases
Research Materials