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    BPESC1 blepharophimosis, epicanthus inversus and ptosis candidate 1 [ Homo sapiens (human) ]

    Gene ID: 60467, updated on 14-Nov-2024

    Summary

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    Official Symbol
    BPESC1provided by HGNC
    Official Full Name
    blepharophimosis, epicanthus inversus and ptosis candidate 1provided by HGNC
    Primary source
    HGNC:HGNC:13228
    See related
    Ensembl:ENSG00000232416 MIM:618995; AllianceGenome:HGNC:13228
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NCRNA00187
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See BPESC1 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139104185..139125167)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141845219..141866646)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138823027..138844009)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr3:138766084-138766337 Neighboring gene MPRA-validated peak4845 silencer Neighboring gene proline rich 23C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138807775-138808499 Neighboring gene RPL7L1 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138875938-138876438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138941089-138941588 Neighboring gene PISRT1 lncRNA Neighboring gene ReSE screen-validated silencer GRCh37_chr3:138974590-138974757 Neighboring gene uncharacterized LOC124906290 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:139002206-139002397 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:139008074-139008302

    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. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. De Baere E, et al. Genomics, 2000 Sep 15. PMID 10995571
    2. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    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_026783.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC069525, KF459861, KF459862
      Related
      ENST00000418282.2

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      139104185..139125167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      141845219..141866646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021812.1: Suppressed sequence

      Description
      NM_021812.1: This RefSeq was permanently suppressed because currently there is no support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZL8.1 GenPept UniProtKB/Swiss-Prot:Q9GZL8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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