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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DLEC1 Gene

protein-coding   GIFtS: 47
GCID: GC03P038080

deleted in lung and esophageal cancer 1

 Explore 23 diseases affiliated with
DLEC1 via our new
 Human Malady Compendium 
Biological research products
for DLEC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Deleted In Lung And Esophageal Cancer 11 2     Deleted In Lung And Esophageal Cancer 1 Transcript Varient 22
DLC11 2 3 5     Deleted In Lung And Esophageal Cancer Protein 12
DLC-12 3     Deleted In Lung Cancer Protein 13
F562     

External Ids:    HGNC: 28991   Entrez Gene: 99402   Ensembl: ENSG000000082267   OMIM: 6040505   UniProtKB: Q9Y2383   

Export aliases for DLEC1 gene to outside databases

Previous GC identifers: GC03M038095 GC03P037352 GC03P037893 GC03P038041 GC03P038055 GC03P038023


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DLEC1:
This gene contains 37 exons, spans approximately 59-kb, and is located in the 3p22-p21.3 chromosomal segment that is
commonly deleted in various carcinomas. Several alternatively spliced transcripts have been observed that contain
disrupted coding regions and likely encode nonfunctional proteins. Aberrant transcription of this gene may be involved
in carcinogenesis of the lung, esophagus, and kidney. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DLEC1_HUMAN, Q9Y238
Function: May act as a tumor suppressor by inhibiting cell proliferation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DLEC1 gene promoter:
         RP58   AML1a   Pax-5   GATA-3   p53   RelA   NF-kappaB   AP-2gamma   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDLEC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DLEC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLEC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p21.3

DLEC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLEC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P038080:  view genomic region     (about GC identifiers)

Start:
38,080,696 bp from pter      End:
38,165,516 bp from pter
Size:
84,821 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DLEC1_HUMAN, Q9Y238 (See protein sequence)
Recommended Name: Deleted in lung and esophageal cancer protein 1  
Size: 1755 amino acids; 195684 Da
Subcellular location: Cytoplasm
Sequence caution: Sequence=CAB70676.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAB70884.2;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q9NSW0 Q9NTG5
Alternative splicing: 3 isoforms:  Q9Y238-1   Q9Y238-2   Q9Y238-3   (Levels of this splice isoform are increased in cancer cell lines and primary cancers)

Explore the universe of human proteins at neXtProt for DLEC1: NX_Q9Y238

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y238

  • DLEC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_031361.2  NP_031363.2  

    ENSEMBL proteins: 
     ENSP00000308597   ENSP00000404261   ENSP00000315914   ENSP00000410427  

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    Uscn Proteins for DLEC1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--


    DLEC1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9Y238


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DLEC1_HUMAN, Q9Y238
    Function: May act as a tumor suppressor by inhibiting cell proliferation

         Genatlas biochemistry entry for DLEC1:
    gene deleted in lung cancer 1,esophaegus and kidney cancer cell lines,see TSG3C

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    DLEC1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DLEC1:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DLEC1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008285negative regulation of cell proliferation TAS10213508


    DLEC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DLEC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DLEC1
    1 Novoseek chemical compound relationship for DLEC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 60.5 1 16489177 (1)

    Search CenterWatch for drugs/clinical trials and news about DLEC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DLEC1 gene (4 alternative transcripts): 
    NM_007335.2  NM_007337.2  NM_007336.1  NM_007338.2  

    Unigene Cluster for DLEC1:

    Deleted in lung and esophageal cancer 1
    Hs.714499  [show with all ESTs]
    Unigene Representative Sequence: NM_007335
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000440294(uc010hgw.1 uc003chq.1) ENST00000308059(uc003cho.1)
    ENST00000447130 ENST00000469151 ENST00000477260 ENST00000478428(uc003chs.1)
    ENST00000346219(uc003chp.1) ENST00000452631(uc010hgv.1 uc003chr.1 uc010hgx.1)


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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB020522.1 AB425198.1 AK302803.1 AL137282.1 AL137706.1 AY789462.1 AY789463.1 AY789464.1 
    BC127645.1 BC129824.1 BC129825.1 BC171799.1 

    9 DOTS entries:

    DT.100669833  DT.92450061  DT.100022012  DT.120879229  DT.100022011  DT.100879782  DT.120879248  DT.95254365 
    DT.75133679 

    24/42 AceView cDNA sequences (see all 42):

    CA313934 BI035862 AB020522 AL137706 AI910883 NM_005106 NM_007336 CB243860 
    NM_007337 NM_007335 AL137282 BM996393 BU680752 CA312917 CA314930 NM_007338 
    BV183448 BV183447 AL039638 BV198780 BU686360 AI955519 AI874185 AW002814 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DLEC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTTTACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DLEC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DLEC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DLEC1

    SOURCE GeneReport for Unigene cluster: Hs.714499

    UniProtKB/Swiss-Prot: DLEC1_HUMAN, Q9Y238
    Tissue specificity: Expressed in all tissues examined. Expression is highest in prostate and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLEC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DLEC1 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dlec11 , 5 deleted in lung and esophageal cancer 11, 5 77.55(n)1
    72.48(a)1
      9 (71.32 cM)5
    3202561  NM_177117.31  NP_796091.21 
     1191024785 
    chicken
    (Gallus gallus)
    Aves DLEC16
    Uncharacterized protein
    48(a)
    1 ↔ 1
    2(4586340-4623146)
    lizard
    (Anolis carolinensis)
    Reptilia DLEC16
    --
    48(a)
    1 ↔ 1
    6(1026174-1063234)
    zebrafish
    (Danio rerio)
    Actinopterygii dlec11 deleted in lung and esophageal cancer 1 51.31(n)
    42.04(a)
      555583  XM_678134.3  XP_683226.3 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    17(a)
    1 ↔ 1
    GroupUn.53(126445-132499)


    ENSEMBL Gene Tree for DLEC1 (if available)
    TreeFam Gene Tree for DLEC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DLEC1 gene

    DLEC1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DLEC1
    PGOHUM00000237590


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1678 NCBI SNPs in DLEC1 are shown (see all 1678    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491907171,2
    C,other38101313(+) ACACCG/AATACA 4 /N /D mis11Minor allele frequency- A:0.00EU 1323
    rs1895877021,2
    --38078758(+) CAAGCA/GGAACT 2 -- us2k10--------
    rs758198621,2
    F,--38078948(+) CTCCTC/TCCCCC 2 -- us2k11Minor allele frequency- T:0.09WA 118
    rs1499743691,2
    --38078951(+) CTCCCC/GCCACC 2 -- us2k10--------
    rs1456464881,2
    --38079063(+) TCCCAC/TGTGCC 2 -- us2k10--------
    rs1489099881,2
    --38079176(+) CAGGGC/TAGGCG 2 -- us2k10--------
    rs1464988681,2
    --38079407(+) AAATGA/TCAACA 2 -- us2k10--------
    rs1166431811,2
    F,--38079750(+) ATGCCC/TCAGCT 2 -- us2k11Minor allele frequency- T:0.03WA 118
    rs127153031,2
    C,--38079781(+) ctactG/Tccctc 2 -- us2k12Minor allele frequency- T:0.04CSA WA 120
    rs127153041,2
    C,--38079782(+) tactgC/Tcctca 2 -- us2k12Minor allele frequency- T:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for DLEC1 (38080696 - 38165516 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for DLEC1
         10 CNVs: 79743 79742 91279 91278 91277 91280 59629 3425 59137 79744
         3 Indels: 27307 40525 12294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DLEC1 for disorders           About GeneDecksing

    OMIM gene information: 604050   
    OMIM disorders: 211980  133239  
    UniProtKB/Swiss-Prot: DLEC1_HUMAN, Q9Y238
  • Note=DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development
  • of different cancers, including esophageal (ESCR), renal and lung cancers (LNCR)
  • Defects in DLEC1 are a cause of lung cancer (LNCR) [MIM:211980]. A common malignancy affecting tissues of the
  • lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major
    histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at
    an advanced stage and has a poor prognosis. Note=DLEC1 silencing due to promoter methylation and aberrant
    transcription are implicated in the development of lung cancer
  • Defects in DLEC1 are a cause of esophageal cancer (ESCR) [MIM:133239]. A malignancy of the esophagus. The most
  • common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating
    disease because it is usually not detected until it has progressed to an advanced incurable stage. Note=DLEC1
    silencing due to promoter methylation and aberrant transcription are implicated in the development of esophageal
    cancer

    20/23 diseases for DLEC1 (see all 23):    About MalaCards
    esophageal cancer    esophagitis    carcinoma    non-small cell lung carcinoma
    squamous cell carcinoma    oral squamous cell carcinoma    epithelial ovarian cancer    renal cell carcinoma
    multiple myeloma    ovarian cancer    lung carcinoma    prostate cancer
    kidney cancer    noma    myeloma    prostatitis
    liver cancer    hepatocellular carcinoma    colon cancer    gastric cancer

    5 Novoseek disease relationships for DLEC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate carcinoma 44.7 22 16533763 (6)
    breast carcinoma 34 2 12645648 (1)
    tumors 26.9 27 17932950 (4), 17521951 (3), 15674352 (2), 12645648 (2) (see all 9)
    prostate cancer 16.9 4 16533763 (1), 12645648 (1)
    cancer 6.93 12 17521951 (3), 12645648 (1), 19667410 (1), 17418982 (1)

    Human Genome Epidemiology (HuGE) Navigator: DLEC1 (2 documents)

    Export disorders for DLEC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DLEC1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with DLEC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3. (PubMed id 10213508)1, 2, 3 Daigo Y....Nakamura Y. (1999)
    2. Downregulation of DLEC1 in sinonasal inverted papillom a and squamous cell carcinoma. (PubMed id 22569009)1 Chang P.H....Tsai C.N. (2012)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    4. Transcriptional repression of DLEC1 associates with t he depth of tumor invasion in oral squamous cell carcinoma. (PubMed id 20952247)1 Chan W.H....Tsai C.N. (2010)
    5. Epigenetic inactivation of deleted in lung and esopha geal cancer 1 gene by promoter methylation in gastric and colorectal adenocarci noma. (PubMed id 21443130)1 Zhang Y....Chen L. (2010)
    6. Evidence of a tumour suppressor function for DLEC1 in human breast cancer. (PubMed id 20530412)1 Al Sarakbi W....Mokbel K. (2010)
    7. Frequent epigenetic inactivation of deleted in lung a nd esophageal cancer 1 gene by promoter methylation in non-small-cell lung canc er. (PubMed id 20630829)1 Zhang Y....Chen L. (2010)
    8. Aberrant promoter methylation of DLEC1, a critical 3p 22 tumor suppressor for renal cell carcinoma, is associated with more advanced tumor stage. (PubMed id 20639048)1 Zhang Q....Jin J. (2010)
    9. DLEC1 is a functional 3p22.3 tumour suppressor silenced by promoter CpG methylation in colon and gastric cancers. (PubMed id 19156137)1 Ying J....Tao Q. (2009)
    10. Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project. (PubMed id 19339270)1 Canova C....Brennan P. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9940 HGNC: 2899 AceView: DLEC1 Ensembl:ENSG00000008226 euGenes: HUgn9940
    ECgene: DLEC1 H-InvDB: DLEC1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for DLEC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DLEC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    Patent Information for DLEC1 gene:
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