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Aliases for RTEL1-TNFRSF6B Gene

Subcategory (RNA class) for RTEL1-TNFRSF6B Gene

ncRNA

Quality Score for this RNA gene is

13

Aliases for RTEL1-TNFRSF6B Gene

  • RTEL1-TNFRSF6B Readthrough (NMD Candidate) 2 3 5

External Ids for RTEL1-TNFRSF6B Gene

Previous GeneCards Identifiers for RTEL1-TNFRSF6B Gene

  • GC20U900647
  • GC20P062291

Summaries for RTEL1-TNFRSF6B Gene

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 an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with RTEL1-TNFRSF6B include Vestibular Disease and Auditory System Disease. GO annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity. An important paralog of this gene is RTEL1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTEL1-TNFRSF6B Gene

Genomics for RTEL1-TNFRSF6B Gene

Regulatory Elements for RTEL1-TNFRSF6B Gene

Enhancers for RTEL1-TNFRSF6B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F063657 1.2 ENCODE 0.8 +0.6 625 2.7 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 LINC00029 MIR647 RTEL1 LOC105372725 GMEB2 ENSG00000237371 MIR1914 LINC01056 PRPF6 SLC2A4RG
GH20F063664 0.7 ENCODE 0.4 +7.1 7101 0.6 RFX1 SP2 ELF1 ZIC2 MBD2 GATA3 GLIS2 ZBTB48 NFYB IKZF1 ZBTB46-AS1 FNDC11 SRMS ENSG00000229299 ZBTB46 LIME1 C20orf181 RTEL1 GC20P063666 RTEL1-TNFRSF6B
GH20F063665 0.6 ENCODE 0.4 +7.7 7713 0.2 MBD2 GTF2F1 GATA3 POLR2A NRF1 ENSG00000229299 ZBTB46-AS1 FNDC11 SRMS ZBTB46 C20orf181 GC20P063666 RTEL1 RTEL1-TNFRSF6B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RTEL1-TNFRSF6B on UCSC Golden Path with GeneCards custom track

Promoters for RTEL1-TNFRSF6B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000404438 690 1401 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for RTEL1-TNFRSF6B Gene

Chromosome:
20
Start:
63,657,810 bp from pter
End:
63,698,698 bp from pter
Size:
40,889 bases
Orientation:
Plus strand

Genomic View for RTEL1-TNFRSF6B Gene

Genes around RTEL1-TNFRSF6B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTEL1-TNFRSF6B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTEL1-TNFRSF6B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTEL1-TNFRSF6B Gene

Proteins for RTEL1-TNFRSF6B Gene

  • Protein details for RTEL1-TNFRSF6B Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    D6RA96
    Recommended name:
    Regulator of telomere elongation helicase 1
    Protein Accession:
    D6RA96

    Protein attributes for RTEL1-TNFRSF6B Gene

    Size:
    785 amino acids
    Molecular mass:
    86787 Da
    Quaternary structure:
    • Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.
  • Protein details for RTEL1-TNFRSF6B Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    F6WH68
    Recommended name:
    Regulator of telomere elongation helicase 1
    Protein Accession:
    F6WH68

    Protein attributes for RTEL1-TNFRSF6B Gene

    Size:
    1400 amino acids
    Molecular mass:
    152526 Da
    Quaternary structure:
    • Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.

neXtProt entry for RTEL1-TNFRSF6B Gene

Protein Expression for RTEL1-TNFRSF6B Gene

Post-translational modifications for RTEL1-TNFRSF6B Gene

No Post-translational modifications

Other Protein References for RTEL1-TNFRSF6B Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for RTEL1-TNFRSF6B Gene

Domains & Families for RTEL1-TNFRSF6B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RTEL1-TNFRSF6B: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for RTEL1-TNFRSF6B Gene

Function for RTEL1-TNFRSF6B Gene

Gene Ontology (GO) - Molecular Function for RTEL1-TNFRSF6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004386 helicase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with RTEL1-TNFRSF6B: view
genes like me logo Genes that share phenotypes with RTEL1-TNFRSF6B: view

Animal Model Products

miRNA for RTEL1-TNFRSF6B Gene

miRTarBase miRNAs that target RTEL1-TNFRSF6B

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RTEL1-TNFRSF6B Gene

Localization for RTEL1-TNFRSF6B Gene

Gene Ontology (GO) - Cellular Components for RTEL1-TNFRSF6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with RTEL1-TNFRSF6B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for RTEL1-TNFRSF6B Gene

Pathways & Interactions for RTEL1-TNFRSF6B Gene

SuperPathways for RTEL1-TNFRSF6B Gene

No Data Available

Interacting Proteins for RTEL1-TNFRSF6B Gene

Gene Ontology (GO) - Biological Process for RTEL1-TNFRSF6B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IEA --
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006260 DNA replication IEA --
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with RTEL1-TNFRSF6B: view

No data available for Pathways by source and SIGNOR curated interactions for RTEL1-TNFRSF6B Gene

Transcripts for RTEL1-TNFRSF6B Gene

mRNA/cDNA for RTEL1-TNFRSF6B Gene

(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for RTEL1-TNFRSF6B Gene

No ASD Table

Relevant External Links for RTEL1-TNFRSF6B Gene

GeneLoc Exon Structure for
RTEL1-TNFRSF6B
ECgene alternative splicing isoforms for
RTEL1-TNFRSF6B

Expression for RTEL1-TNFRSF6B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RTEL1-TNFRSF6B Gene

Protein differential expression in normal tissues from HIPED for RTEL1-TNFRSF6B Gene

This gene is overexpressed in Breast (41.3) and Cervix (27.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from PaxDb and MOPED for RTEL1-TNFRSF6B Gene



Protein tissue co-expression partners for RTEL1-TNFRSF6B Gene

genes like me logo Genes that share expression patterns with RTEL1-TNFRSF6B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RTEL1-TNFRSF6B Gene

Orthologs for RTEL1-TNFRSF6B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RTEL1-TNFRSF6B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RTEL1 35
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 77 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rtel1 35
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 63 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 57 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rtel1 35
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4078 35
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rtel-1 35
  • 28 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
Species where no ortholog for RTEL1-TNFRSF6B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RTEL1-TNFRSF6B Gene

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

Paralogs for RTEL1-TNFRSF6B Gene

Paralogs for RTEL1-TNFRSF6B Gene

(2) SIMAP similar genes for RTEL1-TNFRSF6B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for RTEL1-TNFRSF6B Gene

genes like me logo Genes that share paralogs with RTEL1-TNFRSF6B: view

Variants for RTEL1-TNFRSF6B Gene

Sequence variations from dbSNP and Humsavar for RTEL1-TNFRSF6B Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs146221660 Pathogenic 63,693,248(+) TCCCC(A/G/T)AAGGC nc-transcript-variant, reference, missense
rs201540674 Pathogenic 63,695,619(+) CCAGC(A/G)CTGCC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs370343781 Pathogenic 63,687,765(+) GAGAT(G/T)CAGAT nc-transcript-variant, reference, missense
rs373740199 Pathogenic 63,693,247(+) TTCCC(A/C/T)GAAGG nc-transcript-variant, reference, synonymous-codon, stop-gained
rs398123016 Pathogenic 63,690,161(+) CTTTG(G/T)CCATG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RTEL1-TNFRSF6B Gene

Variant ID Type Subtype PubMed ID
dgv7676n54 CNV loss 21841781
esv2006909 CNV deletion 18987734
esv2722952 CNV deletion 23290073
esv2722953 CNV deletion 23290073
esv2722954 CNV deletion 23290073
esv2722955 CNV deletion 23290073
esv2722956 CNV deletion 23290073
esv2722957 CNV deletion 23290073
esv2722958 CNV deletion 23290073
esv2758806 CNV gain+loss 17122850
esv2762091 CNV loss 21179565
esv29168 CNV loss 19812545
esv3385870 CNV duplication 20981092
esv3646324 CNV loss 21293372
esv5108 CNV loss 18987735
esv988534 CNV gain 20482838
esv992110 CNV insertion 20482838
nsv1072137 CNV deletion 25765185
nsv1160690 CNV deletion 26073780
nsv179257 CNV deletion 16902084
nsv189 CNV insertion 15895083
nsv3449 CNV insertion 18451855
nsv428381 CNV gain+loss 18775914
nsv470563 CNV loss 18288195
nsv586611 CNV loss 21841781
nsv820558 CNV deletion 20802225
nsv953308 CNV deletion 24416366
nsv954284 CNV deletion 24416366
nsv9828 CNV gain+loss 18304495

Relevant External Links for RTEL1-TNFRSF6B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTEL1-TNFRSF6B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RTEL1-TNFRSF6B Gene

Disorders for RTEL1-TNFRSF6B Gene

MalaCards: The human disease database

(5) MalaCards diseases for RTEL1-TNFRSF6B Gene - From: DISEASES

Disorder Aliases PubMed IDs
vestibular disease
  • vertigo, vestibular disorder
auditory system disease
  • destruction - ear drum
inner ear disease
  • labyrinthine disease
cerebellopontine angle tumor
  • neoplasm of the cerebellopontine angle
middle ear disease
  • disorder of middle ear
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RTEL1-TNFRSF6B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RTEL1-TNFRSF6B
genes like me logo Genes that share disorders with RTEL1-TNFRSF6B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RTEL1-TNFRSF6B Gene

Publications for RTEL1-TNFRSF6B Gene

  1. Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. (PMID: 24908248) Walsh K.M. … Wrensch M.R. (Nat. Genet. 2014) 3 64
  2. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PMID: 23535732) Eeles R.A. … Easton D.F. (Nat. Genet. 2013) 3 64
  3. Genome-wide association study of glioma and meta-analysis. (PMID: 22886559) Rajaraman P. … Chanock S.J. (Hum. Genet. 2012) 3 64
  4. Genome-wide association scan of dental caries in the permanent dentition. (PMID: 23259602) Wang X. … Marazita M.L. (BMC Oral Health 2012) 3 64
  5. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson C.A. … Rioux J.D. (Nat. Genet. 2011) 3 64

Products for RTEL1-TNFRSF6B Gene

Sources for RTEL1-TNFRSF6B Gene

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