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    C6orf118 chromosome 6 open reading frame 118 [ Homo sapiens (human) ]

    Gene ID: 168090, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C6orf118provided by HGNC
    Official Full Name
    chromosome 6 open reading frame 118provided by HGNC
    Primary source
    HGNC:HGNC:21233
    See related
    Ensembl:ENSG00000112539 AllianceGenome:HGNC:21233
    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
    Also known as
    bA85G2.1; dJ416F21.2
    Expression
    Biased expression in testis (RPKM 3.6), lung (RPKM 1.2) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See C6orf118 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (165279664..165309605, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (166645732..166675678, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (165693153..165723094, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91179 Neighboring gene melanoma-associated transcript 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91213 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91215 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:165591001-165592200 Neighboring gene uncharacterized LOC124901500 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:165708186-165708356 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:165711405-165712604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:165714707-165715207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:165722813-165723312 Neighboring gene uncharacterized LOC105378113 Neighboring gene phosphodiesterase 10A Neighboring gene RNA, 5S ribosomal pseudogene 226

    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. Functionathon: a manual data mining workflow to generate functional hypotheses for uncharacterized human proteins and its application by undergraduate students. Duek P, et al. Database (Oxford), 2021 Jul 28. PMID 34318869, Free PMC Article
    2. Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. Hong EP, et al. PLoS One, 2017. PMID 28355295, Free PMC Article
    3. Testis-specific proteins, TSNAXIP1 and 1700010I14RIK, are important for sperm motility and male fertility in mice. Kaneda Y, et al. Andrology, 2023 Jul. PMID 36598146, Free PMC Article
    4. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Myers RA, et al. Hum Mol Genet, 2014 Oct 1. PMID 24824216, Free PMC Article
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article

    See all (13) 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
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide interaction studies reveal sex-specific asthma risk alleles.
    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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    Homology

    Clone Names

    • MGC23884

    General protein information

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    Preferred Names
    uncharacterized protein C6orf118

    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_144980.4 → NP_659417.2  uncharacterized protein C6orf118

      See identical proteins and their annotated locations for NP_659417.2

      Status: VALIDATED

      Source sequence(s)
      AI333765, BC026278, BM968092, DB454755
      Consensus CDS
      CCDS5288.1
      UniProtKB/Swiss-Prot
      Q5T5N4, Q8TC11
      Related
      ENSP00000230301.8, ENST00000230301.9
      Conserved Domains (1) summary
      pfam15739
      Location:248 → 351
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      165279664..165309605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266838.3 → XP_005266895.1  uncharacterized protein C6orf118 isoform X4

      Conserved Domains (1) summary
      pfam15739
      Location:248 → 351
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    2. XM_011535510.2 → XP_011533812.1  uncharacterized protein C6orf118 isoform X2

      Conserved Domains (1) summary
      pfam15739
      Location:283 → 366
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    3. XM_011535511.4 → XP_011533813.1  uncharacterized protein C6orf118 isoform X3

      Conserved Domains (1) summary
      pfam15739
      Location:283 → 386
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    4. XM_011535509.2 → XP_011533811.1  uncharacterized protein C6orf118 isoform X1

      Conserved Domains (1) summary
      pfam15739
      Location:283 → 386
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    5. XM_011535512.3 → XP_011533814.1  uncharacterized protein C6orf118 isoform X7

      See identical proteins and their annotated locations for XP_011533814.1

      Conserved Domains (1) summary
      pfam15739
      Location:144 → 247
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    6. XM_047418256.1 → XP_047274212.1  uncharacterized protein C6orf118 isoform X6

    7. XM_017010323.1 → XP_016865812.1  uncharacterized protein C6orf118 isoform X5

    RNA

    1. XR_942320.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      166645732..166675678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354397.1 → XP_054210372.1  uncharacterized protein C6orf118 isoform X4

    2. XM_054354395.1 → XP_054210370.1  uncharacterized protein C6orf118 isoform X2

    3. XM_054354396.1 → XP_054210371.1  uncharacterized protein C6orf118 isoform X3

    4. XM_054354394.1 → XP_054210369.1  uncharacterized protein C6orf118 isoform X1

    5. XM_054354400.1 → XP_054210375.1  uncharacterized protein C6orf118 isoform X7

    6. XM_054354399.1 → XP_054210374.1  uncharacterized protein C6orf118 isoform X6

    7. XM_054354398.1 → XP_054210373.1  uncharacterized protein C6orf118 isoform X5

    RNA

    1. XR_008487272.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T5N4.1 GenPept UniProtKB/Swiss-Prot:Q5T5N4

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