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

    Gene ID: 50514, updated on 10-Dec-2024

    Summary

    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

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (13 hits/1166 screens)

    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

    Interactions

    General gene information

    Other Names

    • candidate tumor suppressor 9
    • candidate tumor suppressor CTS9

    Gene Ontology Provided by GOA

    NCBI Reference Sequences (RefSeq)

    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.

    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)

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