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RTEL1-TNFRSF6B Gene

protein-coding   GIFtS: 23
GCID: GC20P062291

RTEL1-TNFRSF6B Readthrough (NMD Candidate)

  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)
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Aliases
RTEL1-TNFRSF6B Readthrough (NMD Candidate)1 2
Regulator Of Telomere Elongation Helicase 14

External Ids:    HGNC: 440951   Entrez Gene: 1005331072   Ensembl: ENSG000000260367   UniProtKB: D6RA964   UniProtKB: F6WH684   

Export aliases for RTEL1-TNFRSF6B gene to outside databases

Previous GC identifer: GC20U900647


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RTEL1-TNFRSF6B Gene:
This locus represents naturally occurring read-through transcription between the neighboring RTEL1 (regulator of
telomere elongation helicase 1) and TNFRSF6B (tumor necrosis factor receptor superfamily, member 6b, decoy) genes
on chromosome 20. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is
unlikely to produce a protein product. (provided by RefSeq, Feb 2011)

GeneCards Summary for RTEL1-TNFRSF6B Gene:
RTEL1-TNFRSF6B (RTEL1-TNFRSF6B readthrough (NMD candidate)) is a protein-coding gene. Diseases associated with RTEL1-TNFRSF6B include dental caries, and ulcerative colitis. An important paralog of this gene is DDX11.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for RTEL1-TNFRSF6B
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RTEL1-TNFRSF6B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RTEL1-TNFRSF6B


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

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

RTEL1-TNFRSF6B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RTEL1-TNFRSF6B gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P062291:  view genomic region     (about GC identifiers)

Start:
62,289,163 bp from pter      End:
62,330,051 bp from pter
Size:
40,889 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for RTEL1-TNFRSF6B

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/TrEMBL: D6RA96 (See protein sequence)
Recommended Name: Protein RTEL1-TNFRSF6B  
Size: 785 amino acids; 86787 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data

UniProtKB/TrEMBL: F6WH68 (See protein sequence)

Recommended Name: Protein RTEL1-TNFRSF6B  
Size: 1400 amino acids; 152526 Da
Caution: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered
as preliminary data


ENSEMBL proteins: 
 ENSP00000457428   ENSP00000457868  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected 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 D6RA96
Graphical View of Domain Structure for InterPro Entry F6WH68

ProtoNet protein and cluster: D6RA96

UniProtKB/TrEMBL: F6WH68
Similarity: Contains helicase ATP-binding domain


RTEL1-TNFRSF6B 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/TrEMBL Summary: F6WH68
Catalytic activity: ATP + H(2)O = ADP + phosphate

     Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003676nucleic acid binding ----
GO:0003677DNA binding ----
GO:0004003ATP-dependent DNA helicase activity ----
GO:0005524ATP binding ----
GO:0008026ATP-dependent helicase activity ----
     
RTEL1-TNFRSF6B for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for RTEL1-TNFRSF6B:
 Decreased viability of wild-ty 

Animal Models:
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miRNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 cellular component term:    About this table

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

RTEL1-TNFRSF6B for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RTEL1-TNFRSF6B
Interactions:

    Search GeneGlobe Interaction Network for RTEL1-TNFRSF6B

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006139nucleobase-containing compound metabolic process ----

RTEL1-TNFRSF6B for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RTEL1-TNFRSF6B



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000492259 ENST00000482936 ENST00000480273(uc002yfz.3) ENST00000496281(uc002yfx.1)

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GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for RTEL1-TNFRSF6B (see all 12)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1:                          -                 -                 -                                                                                             
SP2:                                                                                                                                                            
SP3:                          -                                                                                                                                 
SP4:                    -     -     -     -     -                 -                                                                                             
SP5:                    -     -                 -                 -                                                                                             

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b · 36c ^ 37a · 37b ^ 38a ·
SP1:  -                                   -                       -                                                                       -                     
SP2:                                                                                                                                                            
SP3:                                                                                                                                                            
SP4:                                                                                                                                                            
SP5:                                                                                                                                                            

ExUns: 38b · 38c ^ 39a · 39b ^ 40
SP1:                              
SP2:                              
SP3:                              
SP4:                              
SP5:                              


ECgene alternative splicing isoforms for RTEL1-TNFRSF6B

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RTEL1-TNFRSF6B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
RTEL1-TNFRSF6B Expression
About this image

RTEL1-TNFRSF6B Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for RTEL1-TNFRSF6B gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves --
Uncharacterized protein
56(a)
1 → many
20(10003533-10043811)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
57(a)
1 → many
GL343401.1(740231-824763)
zebrafish
(Danio rerio)
Actinopterygii rtel16
regulator of telomere elongation helicase 1
52(a)
1 → many
11(12869838-12917195) ENSDARG00000035074
fruit fly
(Drosophila melanogaster)
Insecta CG40786
--
35(a)
1 → many
X(5641780-5646110)
worm
(Caenorhabditis elegans)
Secernentea rtel-16
Protein RTEL-1 (rtel-1) mRNA, complete cds
28(a)
1 → many
I(10571954-10577138) WBGene00009124
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL16
Probable DNA helicase involved in sister-chromatid...
21(a)
1 → many
XVI(539385-541970) YPL008W
        Species with no ortholog for RTEL1-TNFRSF6B

ENSEMBL Gene Tree for RTEL1-TNFRSF6B (if available)
TreeFam Gene Tree for RTEL1-TNFRSF6B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RTEL1-TNFRSF6B gene
DDX112  RTEL12  BRIP12  
2 SIMAP similar genes for RTEL1-TNFRSF6B using alignment to 1 protein entry:     D6RA96_HUMAN:
RTEL1    CHLR1

RTEL1-TNFRSF6B for paralogs           About GeneDecksing



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Structural Variations
     Database of Genomic Variants (DGV) Selected variations for RTEL1-TNFRSF6B (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

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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.)
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2 diseases for RTEL1-TNFRSF6B:    About MalaCards
dental caries    ulcerative colitis


RTEL1-TNFRSF6B for disorders           About GeneDecksing


Export disorders for RTEL1-TNFRSF6B 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)
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PubMed articles for RTEL1-TNFRSF6B gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with RTEL1-TNFRSF6B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
  2. Genome-wide association scan of dental caries in the permanent dentition. (PubMed id 23259602)1 Wang X....Marazita M.L. (BMC Oral Health 2012)
  3. Genome-wide association study of glioma and meta-analysis. (PubMed id 22886559)1 Rajaraman P....Chanock S.J. (Hum. Genet. 2012)
  4. Chromosome 7p11.2 (EGFR) variation influences glioma risk. (PubMed id 21531791)1 Sanson M....Simon M. (Hum. Mol. Genet. 2011)
  5. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (Nat. Genet. 2011)
  6. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
  7. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. (PubMed id 19578366)1 Wrensch M....Wiencke J.K. (Nat. Genet. 2009)
  8. Genome-wide association study identifies five susceptibility loci for glioma. (PubMed id 19578367)1 Shete S....Houlston R.S. (Nat. Genet. 2009)
  9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  10. 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 Bai C.... Caskey C.T. (Proc. Natl. Acad. Sci. U.S.A. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 100533107 HGNC: 44095 Ensembl:ENSG00000026036 euGenes: HUgn100533107 ECgene: RTEL1-TNFRSF6B
H-InvDB: RTEL1-TNFRSF6B

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for RTEL1-TNFRSF6B gene:
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