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    OFCC1 orofacial cleft 1 candidate 1 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 266553, updated on 9-Dec-2024

    Summary

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    Official Symbol
    OFCC1provided by HGNC
    Official Full Name
    orofacial cleft 1 candidate 1 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:21017
    See related
    MIM:614287; AllianceGenome:HGNC:21017
    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
    Opo; MRDS1
    Summary
    Predicted to be located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See OFCC1 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (9704978..10211608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (9573688..10079948, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (9705211..10211841, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901255 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:9405051-9406250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:9456335-9456986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23964 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:9614589-9615788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23965 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:9648237-9649436 Neighboring gene uncharacterized LOC124901484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16898 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:9810687-9811203 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:9811204-9811719 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:9971388-9971998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:9971999-9972609 Neighboring gene uncharacterized LOC105374919 Neighboring gene MPRA-validated peak5651 silencer Neighboring gene uncharacterized LOC124900218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10134047-10134548 Neighboring gene uncharacterized LOC105374918 Neighboring gene ribosomal protein L7a pseudogene 36 Neighboring gene RNA, U6atac small nuclear 21, pseudogene Neighboring gene ribosomal protein L21 pseudogene 62

    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. Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD. Guo Y, et al. Neurosci Lett, 2012 May 23. PMID 22507240
    2. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. Davies SJ, et al. Cytogenet Genome Res, 2004. PMID 15218257
    3. Ablation of Mrds1/Ofcc1 induces hyper-γ-glutamyl transpeptidasemia without abnormal head development and schizophrenia-relevant behaviors in mice. Ohnishi T, et al. PLoS One, 2011. PMID 22242126, Free PMC Article
    4. Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. Lunetta KL, et al. BMC Med Genet, 2007 Sep 19. PMID 17903295, Free PMC Article
    5. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Dastani Z, et al. PLoS Genet, 2012. PMID 22479202, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Found OFCC1 R129G variant is probably a rare cause of Tourette syndrome/chronic tic phenotype in Chinese Han patients.
      Title: Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Web-based, participant-driven studies yield novel genetic associations for common traits.
    3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    EBI GWAS Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    EBI GWAS Catalog
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Other Names

    • ojoplano
    • orofacial cleft 1 candidate gene 1 protein
    • orofacial clefting chromosomal breakpoint region candidate 1 protein

    Clone Names

    • MGC142101, MGC142103

    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_170155.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL021332, AL139332, AL159986, AL354868

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      9704978..10211608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      9573688..10079948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153003.1: Suppressed sequence

      Description
      NM_153003.1: This RefSeq was permanently suppressed because the CDS appears to be partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZS5.1 GenPept UniProtKB/Swiss-Prot:Q8IZS5

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools