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

Gene ID: 110806280, updated on 15-Mar-2024

Summary

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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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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)

General gene information

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Homology

General protein information

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

    Status: VALIDATED

    Source sequence(s)
    AC010319

  2. NM_001395222.1 → NP_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GVG4.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GVG4

Gene LinkOut

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Molecular Biology Databases
Research Materials