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

RTEL1 Gene

protein-coding   GIFtS: 57
GCID: GC20P062289

Regulator Of Telomere Elongation Helicase 1

(Previous name: chromosome 20 open reading frame 41)
(Previous symbol: C20orf41)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Regulator Of Telomere Elongation Helicase 11 2     DKCB52
C20orf411 2 3 5     RTEL2
NHL2 3 5     Regulator Of Telomere Length2
KIAA10883 5     EC 3.6.4.123
Chromosome 20 Open Reading Frame 411     Novel Helicase-Like3
DKCA42     EC 3.6.18

External Ids:    HGNC: 158881   Entrez Gene: 517502   Ensembl: ENSG000002583667   OMIM: 6088335   UniProtKB: Q9NZ713   
ORGUL members:         
NONCODE14:n410641 n335119      

Export aliases for RTEL1 gene to outside databases

Previous GC identifers: GC20P061760 GC20P059019


(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 RTEL1 Gene:
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and
interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in
this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through
transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor
superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript
variants encoding different isoforms. (provided by RefSeq, Sep 2013)

GeneCards Summary for RTEL1 Gene: 
RTEL1 (regulator of telomere elongation helicase 1) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with RTEL1 include neuroma, and acoustic neuroma, and among its related super-pathways are Metabolic pathways. GO annotations related to this gene include ATP-dependent DNA helicase activity and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is DDX11.

UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71
Function: ATP-dependent DNA helicase required to suppress inappropriate homologous recombination, thereby playing
a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by
promoting the disassembly of D loop recombination intermediates. Also required to regulate telomere length;
probably due to its anti-recombinase function




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011333.6  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RTEL1 gene promoter:
         AP-1   NRSF form 1   ARP-1   NF-kappaB1   NRSF form 2   Ik-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): RTEL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RTEL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RTEL1


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

Entrez Gene cytogenetic band: 20q13.3   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.3

RTEL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RTEL1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P062289:  view genomic region     (about GC identifiers)

Start:
62,289,163 bp from pter      End:
62,328,416 bp from pter
Size:
39,254 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for RTEL1

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71 (See protein sequence)
Recommended Name: Regulator of telomere elongation helicase 1  
Size: 1219 amino acids; 133683 Da
Subcellular location: Nucleus (By similarity)
Miscellaneous: Amplified in gastric tumors
Sequence caution: Sequence=CAI17958.1; Type=Erroneous gene model prediction; Sequence=CAM25345.1; Type=Erroneous
gene model prediction;
Secondary accessions: A2A397 A2A398 B4DRM5 B4DYM3 B4E3N6 E1P5J4 E1P5J5 Q5JTV3 Q5JTV4 Q9BW37
Q9H402 Q9H4X6 Q9NX25 Q9NZ73 Q9UPR4 Q9Y4R6
Alternative splicing: 8 isoforms:  Q9NZ71-1   Q9NZ71-2   Q9NZ71-4   Q9NZ71-5   Q9NZ71-6   Q9NZ71-7   Q9NZ71-8   Q9NZ71-9   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RTEL1: NX_Q9NZ71

Explore proteomics data for RTEL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZ71

  • 4/19 DME Specific Peptides for RTEL1 (Q9NZ71) (see all 19)
     SRTHSQL  PYNYLLD  LCIHPEV  ILDIEDL 

    RTEL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RTEL1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001269938.1  NP_001269939.1  NP_057518.1  NP_116575.3  

    ENSEMBL proteins: 
     ENSP00000359035   ENSP00000424307   ENSP00000353332   ENSP00000349265   ENSP00000388063  
     ENSP00000425576   ENSP00000359020   ENSP00000322287  
    Reactome Protein details: Q9NZ71
    Human Recombinant Protein Products for RTEL1: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RTEL1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--

    RTEL1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for RTEL1 
    Cloud-Clone Corp. CLIAs for RTEL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR027417 P-loop_NTPase
     IPR006554 Helicase-like_DEXD_c2
     IPR006555 ATP-dep_Helicase_C
     IPR010614 DEAD_2

    Graphical View of Domain Structure for InterPro Entry Q9NZ71

    ProtoNet protein and cluster: Q9NZ71

    4 Blocks protein domains:
    IPB002464 ATP-dependent helicase
    IPB006554 DEXDc2
    IPB006555 Helicase c2
    IPB010614 DEAD_2


    UniProtKB/Swiss-Prot: RTEL1_HUMAN, Q9NZ71
    Similarity: Belongs to the helicase family. RAD3/XPD subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    RTEL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RTEL1_HUMAN, Q9NZ71
    Function: ATP-dependent DNA helicase required to suppress inappropriate homologous recombination, thereby playing
    a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by
    promoting the disassembly of D loop recombination intermediates. Also required to regulate telomere length;
    probably due to its anti-recombinase function
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IMP18957201
    GO:0005524ATP binding IMP18957201
    GO:0008026ATP-dependent helicase activity ----
         
    RTEL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RTEL1:
     Decreased melanin production  Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rtel1):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  normal 

    RTEL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rtel1tm1.1Hdin for RTEL1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RTEL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RTEL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RTEL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RTEL1 

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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RTEL1:
    hsa-miR-2115 hsa-miR-516a-3p hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidRTEL1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of RTEL1 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RTEL1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    2Cytosolic Iron-sulfur Cluster Assembly
    Cytosolic Iron-sulfur Cluster Assembly

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for RTEL1
        Cytosolic Iron-sulfur Cluster Assembly
    Metabolism



    RTEL1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RTEL1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/6 Interacting proteins for RTEL1 (Q9NZ713 ENSP000003533324) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VPS51Q9UID33I2D: score=5 
    CLN3Q132863I2D: score=1 
    FASLGENSP000003566944STRING: ENSP00000356694
    TNFSF14ENSP000002459124STRING: ENSP00000245912
    TNFSF15ENSP000003631574STRING: ENSP00000363157
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance ISS--
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006281DNA repair IEA--
    GO:0010569regulation of double-strand break repair via homologous recombination IMP18957201
    GO:0044281small molecule metabolic process TAS--

    RTEL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RTEL1

    Search CenterWatch for drugs/clinical trials and news about RTEL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RTEL1 gene (4 alternative transcripts): 
    NM_001283009.1  NM_001283010.1  NM_016434.3  NM_032957.4  

    Unigene Cluster for RTEL1:

    Regulator of telomere elongation helicase 1
    Hs.745057  [show with all ESTs]
    Unigene Representative Sequence: NR_037882
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370018(uc011abc.2 uc002yfu.2 uc011abd.2) ENST00000508582
    ENST00000469728 ENST00000360203(uc011abe.1 uc021wge.1) ENST00000356810(uc002yfv.2)
    ENST00000488316 ENST00000463361 ENST00000425905 ENST00000496816 ENST00000370003
    ENST00000318100(uc002yfw.3)
    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RTEL1:
    hsa-miR-2115 hsa-miR-516a-3p hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidRTEL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RTEL1
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    OriGene ORF clones in mouse, rat for RTEL1
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    GenScript: all cDNA clones in your preferred vector (see all 2): RTEL1 (NM_016434)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RTEL1

    Additional mRNA sequence: 

    AF217795.1 AK000485.1 AK299332.1 AK302508.1 AK304798.1 AL080127.1 NR_037882.1 

    16 DOTS entries:

    DT.40230565  DT.99984254  DT.100746778  DT.110158  DT.120825067  DT.426887  DT.101980777  DT.100746777 
    DT.102833296  DT.100026806  DT.95349828  DT.91765245  DT.120824862  DT.75164637  DT.97792267  DT.100749378 

    24/190 AceView cDNA sequences (see all 190):

    BF987793 AI446656 BM742134 AF217795 AA326540 BQ019285 BM756086 NM_032957 
    BU623385 AY358279 BE877829 AW955349 AI380034 BM784338 NM_016434 AU099288 
    AY124378 BM857412 BM784181 BF001490 NM_003823 AW135723 BE467871 AF104419 

    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

    RTEL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGGTCCCT
    RTEL1 Expression
    About this image


    See RTEL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RTEL1

    SOURCE GeneReport for Unigene cluster: Hs.745057
        SABiosciences Expression via Pathway-Focused PCR Array including RTEL1: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
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    (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 eukaryotes.

    Orthologs for RTEL1 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rtel11 , 5 regulator of telomere elongation helicase 11, 5 78.48(n)1
    76.66(a)1
      2 (103.63 cM)5
    2694001  NM_001001882.31  NP_001001882.31 
     1813197395 
    chicken
    (Gallus gallus)
    Aves RTEL11 regulator of telomere elongation helicase 1 65.02(n)
    64.74(a)
      419262  XM_417435.3  XP_417435.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    56(a)
    1 → many
    GL343401.1(740231-824763)
    zebrafish
    (Danio rerio)
    Actinopterygii rtel11 regulator of telomere elongation helicase 1 57.99(n)
    54.66(a)
      503732  NM_001013310.2  NP_001013328.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG40781 CG4078 51.05(n)
    40.73(a)
      31497  NM_132026.1  NP_572254.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rtel-11 Protein RTEL-1 44.43(n)
    37.76(a)
      172946  NM_060368.3  NP_492769.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CHL16
    Probable DNA helicase involved in sister-chromatid...
    21(a)
    1 → many
    XVI(539385-541970)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G799501 regulator of telomere elongation helicase 1 46.41(n)
    38.15(a)
      844335  NM_106644.3  NP_178113.3 
    rice
    (Oryza sativa)
    Liliopsida Os.330162 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.66(n)    NM_192595.1 


    ENSEMBL Gene Tree for RTEL1 (if available)
    TreeFam Gene Tree for RTEL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RTEL1 gene
    DDX112  BRIP12  RTEL1-TNFRSF6B2  
    3 SIMAP similar genes for RTEL1 using alignment to 3 protein entries:     RTEL1_HUMAN (see all proteins):
    RTEL1-TNFRSF6B    FLJ00362    CHLR1

    RTEL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RTEL1
    PGOHUM00000246032


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    2 SNPs in RTEL1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549714
    ----see VAR_0549712 Q H mis40--------
    VAR_0549704
    ----see VAR_0549702 N S mis40--------

    HapMap Linkage Disequilibrium report for RTEL1 (62289163 - 62328416 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/33 variations for RTEL1 (see all 33):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722955CNV Deletion23290073
    esv2722956CNV Deletion23290073
    nsv820558CNV Deletion20802225
    esv2722958CNV Deletion23290073
    esv2006909CNV Deletion18987734
    esv2722953CNV Deletion23290073
    esv5108CNV Deletion18987735
    esv2722952CNV Deletion23290073
    esv2722954CNV Deletion23290073
    esv2722957CNV Deletion23290073


    Human Gene Mutation Database (HGMD): RTEL1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing RTEL1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608833    OMIM disorders: --

    6 diseases for RTEL1:    About MalaCards
    neuroma    acoustic neuroma    keratoderma    malignant glioma
    crohn's disease    glioblastoma

    2 diseases from the University of Copenhagen DISEASES database for RTEL1:
    Malignant glioma     Dyskeratosis congenita

    RTEL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RTEL1
    Human Genome Epidemiology (HuGE) Navigator: RTEL1 (9 documents)

    Export disorders for RTEL1 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 RTEL1 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with RTEL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. (PubMed id 10655513)1, 2, 3, 9 Bai C.... Caskey C.T. (2000)
    2. Chromosome 7p11.2 (EGFR) variation influences glioma risk. (PubMed id 21531791)1, 4 Sanson M....Simon M. (2011)
    3. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1, 4 Anderson C.A....Rioux J.D. (2011)
    4. Gamma-radiation sensitivity and polymorphisms in RAD5 1L1 modulate glioma risk. (PubMed id 20610542)1, 4 Liu Y....Bondy M.L. (2010)
    5. Interaction between 5 genetic variants and allergy in glioma risk. (PubMed id 20462933)1, 4 Schoemaker M.J....Swerdlow A.J. (2010)
    6. Genetic risk profiles identify different molecular et iologies for glioma. (PubMed id 20847058)1, 4 Simon M....Sanson M. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Variants in the CDKN2B and RTEL1 regions are associat ed with high-grade glioma susceptibility. (PubMed id 19578366)1, 4 Wrensch M....Wiencke J.K. (2009)
    9. Genome-wide association study identifies five suscept ibility loci for glioma. (PubMed id 19578367)1, 4 Shete S....Houlston R.S. (2009)
    10. RTEL1 maintains genomic stability by suppressing homologous recombination. (PubMed id 18957201)1, 2 Barber L.J.... Boulton S.J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51750 HGNC: 15888 AceView: TNFRSF6B Ensembl:ENSG00000258366 euGenes: HUgn51750
    ECgene: RTEL1 H-InvDB: RTEL1

    (According to HUGE)
    About This Section
    HUGE: KIAA1088

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RTEL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RTEL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RTEL1 gene:
    Search GeneIP for patents involving RTEL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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