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    C16orf78 chromosome 16 open reading frame 78 [ Homo sapiens (human) ]

    Gene ID: 123970, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C16orf78provided by HGNC
    Official Full Name
    chromosome 16 open reading frame 78provided by HGNC
    Primary source
    HGNC:HGNC:28479
    See related
    Ensembl:ENSG00000166152 AllianceGenome:HGNC:28479
    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
    Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 18.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See C16orf78 in Genome Data Viewer
    Location:
    16q12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (49373804..49399431)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (55171560..55197187)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (49407715..49433342)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49346697-49347196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49346195-49346696 Neighboring gene uncharacterized LOC124903689 Neighboring gene Sharpr-MPRA regulatory region 1482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49388576-49389094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49389095-49389612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49390729-49391657 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:49403360-49403941 Neighboring gene uncharacterized LOC105371244 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49407168-49407898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:49407899-49408629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49464652-49465152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49465153-49465653 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49475185-49476132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49477189-49477690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49498687-49499188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7461 Neighboring gene long intergenic non-protein coding RNA 2179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49526437-49527060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:49527061-49527682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10805 Neighboring gene zinc finger protein 423 Neighboring gene ADAM metallopeptidase domain 3B (pseudogene)

    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. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Tao S, et al. Carcinogenesis, 2012 Mar. PMID 22219177, Free PMC Article
    2. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100
    3. The protein interaction landscape of the human CMGC kinase group. Varjosalo M, et al. Cell Rep, 2013 Apr 25. PMID 23602568
    4. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (7) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    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

    Clone Names

    • MGC33367

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C16orf78

    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_144602.4 → NP_653203.1  uncharacterized protein C16orf78

      See identical proteins and their annotated locations for NP_653203.1

      Status: VALIDATED

      Source sequence(s)
      AC007614, AI478870, BC021181, HY001804
      Consensus CDS
      CCDS10738.1
      UniProtKB/Swiss-Prot
      Q8WTQ4
      Related
      ENSP00000299191.3, ENST00000299191.4
      Conserved Domains (1) summary
      pfam15472
      Location:1 → 264
      DUF4638; Domain of unknown function (DUF4638)

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      49373804..49399431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      55171560..55197187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTQ4.1 GenPept UniProtKB/Swiss-Prot:Q8WTQ4

    Gene LinkOut

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

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