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    CCDC194 coiled-coil domain containing 194 [ Homo sapiens (human) ]

    Gene ID: 110806280, updated on 17-Jun-2024

    Summary

    Official Symbol
    CCDC194provided by HGNC
    Official Full Name
    coiled-coil domain containing 194provided by HGNC
    Primary source
    HGNC:HGNC:53438
    See related
    Ensembl:ENSG00000269720 AllianceGenome:HGNC:53438
    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
    Orthologs
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    Genomic context

    See CCDC194 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17387196..17394196, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17521944..17528920, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17498005..17505005, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene plasmalemma vesicle associated protein Neighboring gene uncharacterized LOC105372298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17489969-17490857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10342 Neighboring gene CRISPRi-validated cis-regulatory element chr19.2705 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17513926-17514094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17515618-17516356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17518151-17518677 Neighboring gene bone marrow stromal cell antigen 2 Neighboring gene multivesicular body subunit 12A Neighboring gene BST2 interferon stimulated positive regulator Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:17525723-17526510

    Genomic regions, transcripts, and products

    Expression

    • 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

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 194

    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_001395221.1NP_001382150.1  coiled-coil domain-containing protein 194 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010319
    2. NM_001395222.1NP_001382151.1  coiled-coil domain-containing protein 194 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC010319
      Consensus CDS
      CCDS92556.1
      UniProtKB/Swiss-Prot
      A0A1B0GVG4
      Related
      ENSP00000490504.1, ENST00000636079.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      17387196..17394196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17521944..17528920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)