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    CLLU1 chronic lymphocytic leukemia up-regulated 1 [ Homo sapiens (human) ]

    Gene ID: 574028, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CLLU1provided by HGNC
    Official Full Name
    chronic lymphocytic leukemia up-regulated 1provided by HGNC
    Primary source
    HGNC:HGNC:29841
    See related
    Ensembl:ENSG00000257127 MIM:616988; AllianceGenome:HGNC:29841
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Expression of this gene has been shown to be upregulated in some individuals with chronic lymphocytic leukemia (CLL), and has been used for prognostic and diagnostic purposes. This gene was originally identified as a human-specific putative protein-coding gene due to the presence of a peptide (PAp00140670, HIIYSTFLSK) that could have supported translation at this locus. This peptide is not present in more recent builds of PeptideAtlas, and the presence of a protein product at this locus has not been independently verified. For this reason, this gene is being represented as non-coding. Sequence comparisons to other primates indicates that no other primate is predicted to contain an open reading frame. [provided by RefSeq, Feb 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See CLLU1 in Genome Data Viewer
    Location:
    12q22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (92421531..92431002)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (92399009..92408487)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (92815307..92824778)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2391 Neighboring gene uncharacterized LOC105369902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6731 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2878 Neighboring gene uncharacterized LOC107984467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6732 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2880 Neighboring gene CRISPRi-validated cis-regulatory element chr12.2881 Neighboring gene CLLU1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6740 Neighboring gene Sharpr-MPRA regulatory region 8533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6743 Neighboring gene long intergenic non-protein coding RNA 2397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6747 Neighboring gene uncharacterized LOC105369904

    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 molecular score by quantitative PCR as a new prognostic tool at diagnosis for chronic lymphocytic leukemia patients. Stamatopoulos B, et al. PLoS One, 2010 Sep 16. PMID 20862275, Free PMC Article
    2. CLLU1 expression levels predict time to initiation of therapy and overall survival in chronic lymphocytic leukemia. Buhl AM, et al. Eur J Haematol, 2006 Jun. PMID 16529606
    3. The prognostic role of CLLU1 in chronic lymphocytic leukaemia. Smolej L. Eur J Haematol, 2006 Aug. PMID 16856913
    4. CLLU1 expression analysis adds prognostic information to risk prediction in chronic lymphocytic leukemia. Josefsson P, et al. Blood, 2007 Jun 1. PMID 17284524
    5. CLLU1 expression: the latest risk predictor in chronic lymphocytic leukemia. Rosenwald A. Leuk Lymphoma, 2007 Sep. PMID 17786698

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Impact and Prognostic Significance of Chronic Lymphocytic Leukemia Upregulated 1 (CLLU1) Gene Expression in Patients with Chronic Lymphocytic Leukemia: A Single Center Experience.
      Title: The Impact and Prognostic Significance of Chronic Lymphocytic Leukemia Upregulated 1 (CLLU1) Gene Expression in Patients with Chronic Lymphocytic Leukemia: A Single Center Experience.
    2. in this paper we have showed that evolutionary new genes DCD1(Dermicidin), LINC00309 and CLLU1 have tumor-specific expression profile
      Title: [Study of tumor-specific expression of some evolutionary new genes].
    3. the level of CLLU1 mRNA expression provided prognostic information in patients with CLL.
      Title: CLLU1 expression has prognostic value in chronic lymphocytic leukemia after first-line therapy in younger patients and in those with mutated IGHV genes.
    4. Analysis of CLLU1 expression is a rapid and reliable tool that may facilitate the diagnosis of mature B-cell neoplasms especially in inconclusive cases.
      Title: CLLU1 expression distinguishes chronic lymphocytic leukemia from other mature B-cell neoplasms.
    5. Assessment of blood CLLU1 levels can be used as a reliable marker of tumor burden and has the potential to complement currently used techniques for minimal residual disease monitoring in patients with chronic lymphocytic leukemia.
      Title: Analysis of CLLU1 expression levels before and after therapy in patients with chronic lymphocytic leukemia.
    6. CLLU1 expression was significantly associated with clinical stage and CD38 expression in chronic lymphocytic leukemia.
      Title: [Expression of CLLU1 in patients with chronic lymphocytic leukemia and its prognostic significance].
    7. CLLU1 is a novel human-specific protein-coding gene.
      Title: Recent de novo origin of human protein-coding genes.
    8. The CLLU1 expression level is a stable and inherent feature of the chronic lymphocytic leukemia clone
      Title: The CLLU1 expression level is a stable and inherent feature of the chronic lymphocytic leukemia clone.
    9. The expression levels of CLLU1 were significantly increased in B + C CLL patients at Binet stage compared with those at Binet stage A (P = 0.005).
      Title: The prognostic evaluation of CLLU1 expression levels in 50 Chinese patients with chronic lymphocytic leukemia.
    10. CLLU1 is the first disease-specific gene identified in chronic lymphocytic leukemia.
      Title: Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    General gene information

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    Markers

    Homology

    Other Names

    • chronic lymphocytic leukemia up-regulated protein 1

    Clone Names

    • MGC173218, MGC180158

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    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_027932.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript.
      Source sequence(s)
      AJ845162, AJ845163
      Related
      ENST00000472839.6

    2. NR_027933.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 2.
      Source sequence(s)
      AJ845162
      Related
      ENST00000512817.1

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      92421531..92431002
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      92399009..92408487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001025233.2: Suppressed sequence

      Description
      NM_001025233.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5K131.1 GenPept UniProtKB/Swiss-Prot:Q5K131

    Gene LinkOut

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

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