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    DELEC1 deleted in esophageal cancer 1 [ Homo sapiens (human) ]

    Gene ID: 50514, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DELEC1provided by HGNC
    Official Full Name
    deleted in esophageal cancer 1provided by HGNC
    Primary source
    HGNC:HGNC:23658
    See related
    Ensembl:ENSG00000173077 MIM:604767; AllianceGenome:HGNC:23658
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CTS9; DEC1
    Summary
    The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal squamous cell carcinomas. [provided by RefSeq, Jul 2008]
    Annotation information
    Note: DEC1 (Gene ID: 50514) and BHLHE40 (Gene ID: 8553) share the DEC1 symbol/alias in common. DEC1 (differentially expressed in chondrocytes 1) is a widely used alternative name for basic helix-loop-helix family member e40 (BHLHE40), which can be confused with the official symbol for deleted in esophageal cancer 1 (DEC1). [23 May 2018]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See DELEC1 in Genome Data Viewer
    Location:
    9q33.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (115141818..115402644)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (127334123..127595719)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (117904097..118164923)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902256 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:117838052-117838579 Neighboring gene uncharacterized LOC124902255 Neighboring gene tenascin C Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117876192-117877391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:117880715-117881534 Neighboring gene uncharacterized LOC101928748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117894654-117895154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:117895155-117895655 Neighboring gene uncharacterized LOC124902257 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:117944498-117945043 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20218 Neighboring gene NANOG hESC enhancer GRCh37_chr9:117955993-117956512 Neighboring gene uncharacterized LOC105376233 Neighboring gene uncharacterized LOC105376232 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:118135173-118136372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:118148123-118148622 Neighboring gene VISTA enhancer hs1625 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:118235041-118235822 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:118240508-118241287 Neighboring gene uncharacterized LOC105376235 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:118434360-118435559 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:118453216-118454415 Neighboring gene uncharacterized LOC124902356

    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. Deleted in Esophageal Cancer 1(DEC1) is down-regulated and contributes to migration in head and neck squamous cell carcinoma cell lines. Kunimoto Y, et al. ORL J Otorhinolaryngol Relat Spec, 2011. PMID 20975315
    2. Detailed deletion mapping in squamous cell carcinomas of the esophagus narrows a region containing a putative tumor suppressor gene to about 200 kilobases on distal chromosome 9q. Miura K, et al. Cancer Res, 1996 Apr 1. PMID 8603412
    3. Isolation and mutational analysis of a novel human cDNA, DEC1 (deleted in esophageal cancer 1), derived from the tumor suppressor locus in 9q32. Nishiwaki T, et al. Genes Chromosomes Cancer, 2000 Feb. PMID 10612805
    4. Tumor suppressive role of a 2.4 Mb 9q33-q34 critical region and DEC1 in esophageal squamous cell carcinoma. Yang L, et al. Oncogene, 2005 Jan 20. PMID 15580306
    5. Frequent decreased expression of candidate tumor suppressor gene, DEC1, and its anchorage-independent growth properties and impact on global gene expression in esophageal carcinoma. Leung AC, et al. Int J Cancer, 2008 Feb 1. PMID 17943723

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results provide evidence that DEC1 and DEC2 have opposite effects on TGFbetainduced epithelialmesenchymal transition in human prostate cancer PC3 cells.
      Title: Correlation between DEC1/DEC2 and epithelial‑mesenchymal transition in human prostate cancer PC‑3 cells.
    2. DEC1 acts as an anti-apoptotic regulator in gastric cancer cells under hypoxia by promoting Survivin expression.
      Title: DEC1 is required for anti-apoptotic activity of gastric cancer cells under hypoxia by promoting Survivin expression.
    3. DEC1 is down-regulated and tends to contribute to the migration ability of tumor cell lines; H3 K27 trimethylation potentially plays an important role in the regulation of DEC1 expression
      Title: Deleted in Esophageal Cancer 1(DEC1) is down-regulated and contributes to migration in head and neck squamous cell carcinoma cell lines.
    4. DEC1 promoter -249 T>C (rs2012775) polymorphism is functional, modulating susceptibility to squamous cell carcinoma of the head and neck (SCCHN) among non-Hispanic Whites.
      Title: A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.
    5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.
    8. Decreased expression of candidate DEC1 is associated with esophageal carcinoma
      Title: Frequent decreased expression of candidate tumor suppressor gene, DEC1, and its anchorage-independent growth properties and impact on global gene expression in esophageal carcinoma.
    9. DEC1 is a candidate tumor suppressor gene that may be involved in esophageal squamous cell carcinoma development
      Title: Tumor suppressive role of a 2.4 Mb 9q33-q34 critical region and DEC1 in esophageal squamous cell carcinoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy.
    EBI GWAS Catalog
    Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
    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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    Markers

    Other Names

    • candidate tumor suppressor 9
    • candidate tumor suppressor CTS9

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 

    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.

    RNA

    1. NR_163556.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355601, AL714001
      Related
      ENST00000374016.5

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      115141818..115402644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      127334123..127595719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_027530.1: Suppressed sequence

      Description
      NG_027530.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    2. NM_017418.2: Suppressed sequence

      Description
      NM_017418.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2X7.1 GenPept UniProtKB/Swiss-Prot:Q9P2X7

    Gene LinkOut

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

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