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    C19orf67 chromosome 19 open reading frame 67 [ Homo sapiens (human) ]

    Gene ID: 646457, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C19orf67provided by HGNC
    Official Full Name
    chromosome 19 open reading frame 67provided by HGNC
    Primary source
    HGNC:HGNC:34354
    See related
    Ensembl:ENSG00000188032 AllianceGenome:HGNC:34354
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to act upstream of or within in utero embryonic development. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See C19orf67 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14081624..14085783, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14207916..14212075, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14192436..14196595, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10227 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14184754-14185274 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:14185989-14186224 Neighboring gene microRNA 1199 Neighboring gene MISP family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14199415-14199924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10232 Neighboring gene sterile alpha motif domain containing 1 Neighboring gene MPRA-validated peak3379 silencer Neighboring gene protein kinase cAMP-activated catalytic subunit alpha Neighboring gene Sharpr-MPRA regulatory region 14201 Neighboring gene small integral membrane protein 46

    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. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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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    Homology

    General protein information

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    Preferred Names
    UPF0575 protein C19orf67

    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.

    mRNA and Protein(s)

    1. NM_001277378.2 → NP_001264307.1  UPF0575 protein C19orf67

      See identical proteins and their annotated locations for NP_001264307.1

      Status: VALIDATED

      Source sequence(s)
      AC022098, DN831393, DR008137, DY655148, HY028687, HY212999
      Consensus CDS
      CCDS59360.1
      UniProtKB/Swiss-Prot
      A6NJJ6
      Related
      ENSP00000449137.1, ENST00000548523.6
      Conserved Domains (1) summary
      pfam11771
      Location:179 → 335
      DUF3314; Protein of unknown function (DUF3314)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      14081624..14085783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528184.3 → XP_011526486.1  UPF0575 protein C19orf67 isoform X1

      Conserved Domains (1) summary
      pfam11771
      Location:178 → 334
      DUF3314; Protein of unknown function (DUF3314)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      293465..297624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332707.1 → XP_054188682.1  UPF0575 protein C19orf67 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14207916..14212075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321773.1 → XP_054177748.1  UPF0575 protein C19orf67 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NJJ6.3 GenPept UniProtKB/Swiss-Prot:A6NJJ6

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