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    C6orf136 chromosome 6 open reading frame 136 [ Homo sapiens (human) ]

    Gene ID: 221545, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C6orf136provided by HGNC
    Official Full Name
    chromosome 6 open reading frame 136provided by HGNC
    Primary source
    HGNC:HGNC:21301
    See related
    Ensembl:ENSG00000204564 AllianceGenome:HGNC:21301
    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 be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 11.9), small intestine (RPKM 10.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C6orf136 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30647133..30653207)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30511313..30517381)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30614910..30620984)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30585278-30585846 Neighboring gene mitochondrial ribosomal protein S18B Neighboring gene Sharpr-MPRA regulatory region 13793 Neighboring gene alpha tubulin acetyltransferase 1 Neighboring gene prothymosin alpha pseudogene 1 Neighboring gene DEAH-box helicase 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30638704-30639302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30640498-30641094 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:30642736-30642875 Neighboring gene protein phosphatase 1 regulatory subunit 18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30649761-30650650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30650651-30651540 Neighboring gene nurim Neighboring gene ribosomal protein L7 pseudogene 4

    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. A novel cuproptosis-related gene model predicts outcomes and treatment responses in pancreatic adenocarcinoma. Liu Q, et al. BMC Cancer, 2023 Mar 10. PMID 36894917, Free PMC Article
    2. FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma. Teh MT, et al. PLoS One, 2012. PMID 22461910, Free PMC Article
    3. Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint. Bailey ML, et al. Genetics, 2015 Nov. PMID 26354767, Free PMC Article
    4. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
    5. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C6orf136 was found to be differentially methylated and differentially expressed in human squamous cell carcinomas
      Title: FOXM1 induces a global methylation signature that mimics the cancer epigenome in head and neck squamous cell carcinoma.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15854

    General protein information

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    Preferred Names
    uncharacterized protein C6orf136

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001109938.3 → NP_001103408.1  uncharacterized protein C6orf136 isoform 1

      See identical proteins and their annotated locations for NP_001103408.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI536982, BC073975
      Consensus CDS
      CCDS43443.1
      UniProtKB/Swiss-Prot
      A9R9P9, F8VX15, Q5SQH8, Q5SU01, Q6ZSB7, Q8TB84
      UniProtKB/TrEMBL
      A0A1U9X7F4, A0A1U9X7G3
      Related
      ENSP00000365656.5, ENST00000376473.9
      Conserved Domains (1) summary
      pfam10184
      Location:149 → 274
      DUF2358; Uncharacterized conserved protein (DUF2358)

    2. NM_001161376.2 → NP_001154848.1  uncharacterized protein C6orf136 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.
      Source sequence(s)
      AI536982, BC064397, DA200997
      Consensus CDS
      CCDS54979.1
      UniProtKB/TrEMBL
      Q0P5T2
      Related
      ENSP00000499201.1, ENST00000651131.1
      Conserved Domains (1) summary
      pfam10184
      Location:331 → 455
      DUF2358; Uncharacterized conserved protein (DUF2358)

    3. NM_145029.4 → NP_659466.2  uncharacterized protein C6orf136 isoform 2

      See identical proteins and their annotated locations for NP_659466.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      BM695485, BP255323, BQ022831
      Consensus CDS
      CCDS4684.2
      UniProtKB/Swiss-Prot
      Q5SQH8
      Related
      ENSP00000365654.4, ENST00000376471.8
      Conserved Domains (1) summary
      pfam10184
      Location:22 → 140
      DUF2358; Uncharacterized conserved protein (DUF2358)

    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
      30647133..30653207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514384.3 → XP_011512686.1  uncharacterized protein C6orf136 isoform X2

      See identical proteins and their annotated locations for XP_011512686.1

      UniProtKB/Swiss-Prot
      Q5SQH8
      Conserved Domains (1) summary
      pfam10184
      Location:6 → 131
      DUF2358; Uncharacterized conserved protein (DUF2358)

    2. XM_047418351.1 → XP_047274307.1  uncharacterized protein C6orf136 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2126855..2132921
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329749.1 → XP_054185724.1  uncharacterized protein C6orf136 isoform X2

    2. XM_054329748.1 → XP_054185723.1  uncharacterized protein C6orf136 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1902962..1909030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330241.1 → XP_054186216.1  uncharacterized protein C6orf136 isoform X2

    2. XM_054330240.1 → XP_054186215.1  uncharacterized protein C6orf136 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1957362..1963431
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330532.1 → XP_054186507.1  uncharacterized protein C6orf136 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1991183..1997257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330784.1 → XP_054186759.1  uncharacterized protein C6orf136 isoform X2

    2. XM_054330783.1 → XP_054186758.1  uncharacterized protein C6orf136 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1902221..1908289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331021.1 → XP_054186996.1  uncharacterized protein C6orf136 isoform X2

    2. XM_054331020.1 → XP_054186995.1  uncharacterized protein C6orf136 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1947892..1953958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331287.1 → XP_054187262.1  uncharacterized protein C6orf136 isoform X2

    2. XM_054331286.1 → XP_054187261.1  uncharacterized protein C6orf136 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30511313..30517381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354599.1 → XP_054210574.1  uncharacterized protein C6orf136 isoform X2

    2. XM_054354598.1 → XP_054210573.1  uncharacterized protein C6orf136 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SQH8.1 GenPept UniProtKB/Swiss-Prot:Q5SQH8

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