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    FRG1HP FSHD region gene 1 family member H, pseudogene [ Homo sapiens (human) ]

    Gene ID: 100132352, updated on 22-Oct-2024

    Summary

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    Official Symbol
    FRG1HPprovided by HGNC
    Official Full Name
    FSHD region gene 1 family member H, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:51767
    See related
    Ensembl:ENSG00000291075 AllianceGenome:HGNC:51767
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in lymph node (RPKM 8.2), spleen (RPKM 8.1) and 25 other tissues See more
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    Genomic context

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    See FRG1HP in Genome Data Viewer
    Location:
    9p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (40992261..41039103)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (42255882..42302734, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (69065490..69112332)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak7256 silencer Neighboring gene microRNA 1299 Neighboring gene uncharacterized LOC107986997 Neighboring gene NANOG hESC enhancer GRCh37_chr9:68695497-68695998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:69048303-69048804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:68712489-68713157 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:68725219-68725948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28426 Neighboring gene phosphoglucomutase 5 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19920 Neighboring gene uncharacterized LOC124902161 Neighboring gene uncharacterized LOC105376058

    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. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    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 studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • FSHD region gene 1 pseudogene

    Clone Names

    • FLJ18209

    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_034006.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL353763
      Related
      ENST00000749677.1

    2. NR_156730.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL353763

    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
      40992261..41039103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      42255882..42302734 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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