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    DLEU7 deleted in lymphocytic leukemia 7 [ Homo sapiens (human) ]

    Gene ID: 220107, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DLEU7provided by HGNC
    Official Full Name
    deleted in lymphocytic leukemia 7provided by HGNC
    Primary source
    HGNC:HGNC:17567
    See related
    Ensembl:ENSG00000186047 MIM:618634; AllianceGenome:HGNC:17567
    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
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See DLEU7 in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50711026..50843939, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49925974..50058890, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51285162..51418075, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene deleted in lymphocytic leukemia 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 Neighboring gene DLEU1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7762 Neighboring gene Sharpr-MPRA regulatory region 8262 Neighboring gene uncharacterized LOC107984568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51416758-51417684 Neighboring gene DLEU7 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 28 Neighboring gene RNASEH2B antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:51467712-51468251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7771 Neighboring gene ribonuclease H2 subunit B Neighboring gene ReSE screen-validated silencer GRCh37_chr13:51575479-51575649 Neighboring gene guanylate cyclase 1 soluble subunit beta 2 (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 29

    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
    • 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. Characterization of a novel B-CLL candidate gene--DLEU7--located in the 13q14 tumor suppressor locus. Hammarsund M, et al. FEBS Lett, 2004 Jan 2. PMID 14706829
    2. Genome-wide association of anthropometric traits in African- and African-derived populations. Kang SJ, et al. Hum Mol Genet, 2010 Jul 1. PMID 20400458, Free PMC Article
    3. Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. Fatemifar G, et al. Hum Mol Genet, 2013 Sep 15. PMID 23704328, Free PMC Article
    4. Genome-wide association analysis identifies 20 loci that influence adult height. Weedon MN, et al. Nat Genet, 2008 May. PMID 18391952, Free PMC Article
    5. Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. Soranzo N, et al. PLoS Genet, 2009 Apr. PMID 19343178, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association of anthropometric traits in African- and African-derived populations.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44882, MGC138214

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    leukemia-associated protein 7

    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_001306135.2 → NP_001293064.1  leukemia-associated protein 7 isoform 1

      See identical proteins and their annotated locations for NP_001293064.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL137880
      Consensus CDS
      CCDS76635.1
      UniProtKB/Swiss-Prot
      Q2M2E4, Q6UYE1, Q6ZT82
      Related
      ENSP00000427177.1, ENST00000504404.2
      Conserved Domains (1) summary
      pfam15760
      Location:28 → 221
      DLEU7; Leukemia-associated protein 7

    2. NM_198989.3 → NP_945340.2  leukemia-associated protein 7 isoform 2

      See identical proteins and their annotated locations for NP_945340.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate 3' exon and contains an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC007304, AK126830, AW290996, BM931512, DN992279
      Consensus CDS
      CCDS53869.1
      UniProtKB/TrEMBL
      A0A994J5B2
      Related
      ENSP00000420976.1, ENST00000400393.3
      Conserved Domains (1) summary
      pfam15760
      Location:28 → 153
      DLEU7; Leukemia-associated protein 7

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      50711026..50843939 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      49925974..50058890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UYE1.1 GenPept UniProtKB/Swiss-Prot:Q6UYE1

    Gene LinkOut

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

    Chemical Information
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