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    RABGEF1P1 RABGEF1 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 493754, updated on 22-Oct-2024

    Summary

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    Official Symbol
    RABGEF1P1provided by HGNC
    Official Full Name
    RABGEF1 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:55751
    See related
    Ensembl:ENSG00000291136 AllianceGenome:HGNC:55751
    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
    GS1-124K5.11
    Expression
    Ubiquitous expression in testis (RPKM 6.5), fat (RPKM 6.0) and 25 other tissues See more
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    Genomic context

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    See RABGEF1P1 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66530305..66592407, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67749968..67812058, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65995292..66057394, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 3011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65967883-65968382 Neighboring gene G protein subunit alpha 11 pseudogene Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:65981742-65982054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65995393-65996257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66022503-66023318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66023319-66024134 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66024161-66024393 Neighboring gene suppressor APC domain containing 2 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66054213-66054714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18207 Neighboring gene Sharpr-MPRA regulatory region 7945 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66057822-66057993 Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26085 Neighboring gene potassium channel tetramerization domain containing 7

    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. Identification of psi3Tom20, a novel processed pseudogene of the human Tom20 gene, and complete characterization of psi1Tom20 and psi2Tom20. Hernández JM, et al. Mol Gen Genet, 1999 Sep. PMID 10517315
    2. Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. Wineinger NE, et al. BMC Med Genomics, 2011 Jan 11. PMID 21223598, Free PMC Article
    3. 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
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    See all (6) citations in PubMed

    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

    • RAB guanine nucleotide exchange factor 1 pseudogene

    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_111972.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains two alternate internal exons, compared to variant 1.
      Source sequence(s)
      AA019315, BC103766, DA081109
      Related
      ENST00000735856.1

    2. NR_111973.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains multiple alternate exons in the 5' and 3' regions, compared to variant 1.
      Source sequence(s)
      AK296922, AK310548, AL046745, BC103766, BM687536, BU727812, DA081109
      Related
      ENST00000686269.2

    3. NR_111974.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript.
      Source sequence(s)
      AA019315, BC103766, DA081109
      Related
      ENST00000735850.1

    4. NR_111975.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon, compared to variant 1.
      Source sequence(s)
      AA019315, BC103766, DA081109
      Related
      ENST00000735851.1

    5. NR_111976.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1.
      Source sequence(s)
      AA019315, BC103766, DA081109
      Related
      ENST00000735853.1

    6. NR_111977.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains three alternate internal exons, compared to variant 1.
      Source sequence(s)
      AA019315, BC057835, BC103766, DA081109
      Related
      ENST00000735859.1

    7. NR_111978.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) contains two alternate internal exons, compared to variant 1.
      Source sequence(s)
      AA019315, BC080520, BC103766, DA081109
      Related
      ENST00000735857.1

    8. NR_111979.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) contains an alternate internal exon, compared to variant 1.
      Source sequence(s)
      AA019315, BC080520, BC103766, DA081109
      Related
      ENST00000735852.1

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      66530305..66592407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      67749968..67812058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_002933.1: Suppressed sequence

      Description
      NR_002933.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version

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