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    C1orf220 chromosome 1 putative open reading frame 220 [ Homo sapiens (human) ]

    Gene ID: 400798, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C1orf220provided by HGNC
    Official Full Name
    chromosome 1 putative open reading frame 220provided by HGNC
    Primary source
    HGNC:HGNC:33805
    See related
    Ensembl:ENSG00000213057 AllianceGenome:HGNC:33805
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Broad expression in lymph node (RPKM 1.7), spleen (RPKM 1.5) and 21 other tissues See more
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    Genomic context

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    See C1orf220 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178542796..178548889)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (177897519..177903612)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178511931..178518024)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371631 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:178505524-178506723 Neighboring gene uncharacterized LOC124904460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1578 Neighboring gene uncharacterized LOC105371632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2143 Neighboring gene RNA, 5S ribosomal pseudogene 69 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2147 Neighboring gene Sharpr-MPRA regulatory region 1317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:178621695-178622894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2148 Neighboring gene microRNA 4424

    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. Discovery and refinement of loci associated with lipid levels. Willer CJ, et al. Nat Genet, 2013 Nov. PMID 24097068, Free PMC Article
    2. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    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

    EBI GWAS Catalog

    Description
    Discovery and refinement of loci associated with lipid levels.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: TEX35

    Clone Names

    • FLJ35530, FLJ40199, DKFZp564J047

    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_033186.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK092849, AL513013, BC136727
      Related
      ENST00000521244.1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      178542796..178548889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      177897519..177903612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207467.1: Suppressed sequence

      Description
      NM_207467.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T0J3.1 GenPept UniProtKB/Swiss-Prot:Q5T0J3

    Gene LinkOut

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

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