Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RTEL1 (regulator of telomere elongation helicase 1)

Identity

Alias_namesC20orf41
chromosome 20 open reading frame 41
Alias_symbol (synonym)bK3184A7.3
NHL
DKFZP434C013
KIAA1088
RTEL
Other aliasDKCA4
DKCB5
PFBMFT3
HGNC (Hugo) RTEL1
LocusID (NCBI) 51750
Atlas_Id 882
Location 20q13.33  [Link to chromosome band 20q13]
Location_base_pair Starts at 63657810 and ends at 63696253 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATP2A3 (17p13.2) / RTEL1 (20q13.33)RTEL1 (20q13.33) / RPLP0 (12q24.23)RTEL1 (20q13.33) / RTEL1 (20q13.33)
ZGPAT (20q13.33) / RTEL1 (20q13.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dyskeratosis congenita (DKC)

External links

Nomenclature
HGNC (Hugo)RTEL1   15888
LRG (Locus Reference Genomic)LRG_1149
Cards
Entrez_Gene (NCBI)RTEL1  51750  regulator of telomere elongation helicase 1
AliasesC20orf41; DKCA4; DKCB5; NHL; 
PFBMFT3; RTEL
GeneCards (Weizmann)RTEL1
Ensembl hg19 (Hinxton)ENSG00000258366 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000258366 [Gene_View]  ENSG00000258366 [Sequence]  chr20:63657810-63696253 [Contig_View]  RTEL1 [Vega]
ICGC DataPortalENSG00000258366
TCGA cBioPortalRTEL1
AceView (NCBI)RTEL1
Genatlas (Paris)RTEL1
WikiGenes51750
SOURCE (Princeton)RTEL1
Genetics Home Reference (NIH)RTEL1
Genomic and cartography
GoldenPath hg38 (UCSC)RTEL1  -     chr20:63657810-63696253 +  20q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RTEL1  -     20q13.33   [Description]    (hg19-Feb_2009)
GoldenPathRTEL1 - 20q13.33 [CytoView hg19]  RTEL1 - 20q13.33 [CytoView hg38]
ImmunoBaseENSG00000258366
Mapping of homologs : NCBIRTEL1 [Mapview hg19]  RTEL1 [Mapview hg38]
OMIM608833   615190   616373   
Gene and transcription
Genbank (Entrez)AF217795 AK000485 AK299332 AK302508 AK304798
RefSeq transcript (Entrez)NM_001283009 NM_001283010 NM_016434 NM_032957
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RTEL1
Cluster EST : UnigeneHs.745057 [ NCBI ]
CGAP (NCI)Hs.745057
Alternative Splicing GalleryENSG00000258366
Gene ExpressionRTEL1 [ NCBI-GEO ]   RTEL1 [ EBI - ARRAY_EXPRESS ]   RTEL1 [ SEEK ]   RTEL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RTEL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51750
GTEX Portal (Tissue expression)RTEL1
Human Protein AtlasENSG00000258366-RTEL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZ71   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZ71  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZ71
Splice isoforms : SwissVarQ9NZ71
PhosPhoSitePlusQ9NZ71
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_2 (PS51193)   
Domains : Interpro (EBI)ATP-dep_Helicase_C    DEAD_2    Helic_SF1/SF2_ATP-bd_DinG/Rad3    Helicase-like_DEXD_c2    P-loop_NTPase    Rad3/Chl1-like    RTEL1   
Domain families : Pfam (Sanger)DEAD_2 (PF06733)    Helicase_C_2 (PF13307)   
Domain families : Pfam (NCBI)pfam06733    pfam13307   
Domain families : Smart (EMBL)DEXDc2 (SM00488)  HELICc2 (SM00491)  
Conserved Domain (NCBI)RTEL1
DMDM Disease mutations51750
Blocks (Seattle)RTEL1
SuperfamilyQ9NZ71
Human Protein Atlas [tissue]ENSG00000258366-RTEL1 [tissue]
Peptide AtlasQ9NZ71
HPRD15281
IPIIPI00455987   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZ71
IntAct (EBI)Q9NZ71
FunCoupENSG00000258366
BioGRIDRTEL1
STRING (EMBL)RTEL1
ZODIACRTEL1
Ontologies - Pathways
QuickGOQ9NZ71
Ontology : AmiGOtelomere maintenance  telomere maintenance  strand displacement  strand displacement  chromosome, telomeric region  DNA binding  DNA helicase activity  DNA helicase activity  DNA helicase activity  protein binding  ATP binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  DNA repair  regulation of double-strand break repair via homologous recombination  regulation of double-strand break repair via homologous recombination  replication fork processing  positive regulation of telomere maintenance  DNA duplex unwinding  DNA duplex unwinding  telomere maintenance in response to DNA damage  negative regulation of DNA recombination  negative regulation of DNA recombination  metal ion binding  4 iron, 4 sulfur cluster binding  DNA polymerase binding  telomeric loop disassembly  telomeric loop disassembly  telomeric loop disassembly  mitotic telomere maintenance via semi-conservative replication  positive regulation of telomere capping  positive regulation of telomere maintenance via telomere lengthening  negative regulation of t-circle formation  negative regulation of t-circle formation  negative regulation of t-circle formation  negative regulation of t-circle formation  negative regulation of telomere maintenance in response to DNA damage  positive regulation of telomeric loop disassembly  
Ontology : EGO-EBItelomere maintenance  telomere maintenance  strand displacement  strand displacement  chromosome, telomeric region  DNA binding  DNA helicase activity  DNA helicase activity  DNA helicase activity  protein binding  ATP binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  DNA repair  regulation of double-strand break repair via homologous recombination  regulation of double-strand break repair via homologous recombination  replication fork processing  positive regulation of telomere maintenance  DNA duplex unwinding  DNA duplex unwinding  telomere maintenance in response to DNA damage  negative regulation of DNA recombination  negative regulation of DNA recombination  metal ion binding  4 iron, 4 sulfur cluster binding  DNA polymerase binding  telomeric loop disassembly  telomeric loop disassembly  telomeric loop disassembly  mitotic telomere maintenance via semi-conservative replication  positive regulation of telomere capping  positive regulation of telomere maintenance via telomere lengthening  negative regulation of t-circle formation  negative regulation of t-circle formation  negative regulation of t-circle formation  negative regulation of t-circle formation  negative regulation of telomere maintenance in response to DNA damage  positive regulation of telomeric loop disassembly  
NDEx NetworkRTEL1
Atlas of Cancer Signalling NetworkRTEL1
Wikipedia pathwaysRTEL1
Orthology - Evolution
OrthoDB51750
GeneTree (enSembl)ENSG00000258366
Phylogenetic Trees/Animal Genes : TreeFamRTEL1
HOGENOMQ9NZ71
Homologs : HomoloGeneRTEL1
Homology/Alignments : Family Browser (UCSC)RTEL1
Gene fusions - Rearrangements
Fusion : QuiverRTEL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRTEL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RTEL1
dbVarRTEL1
ClinVarRTEL1
1000_GenomesRTEL1 
Exome Variant ServerRTEL1
ExAC (Exome Aggregation Consortium)ENSG00000258366
GNOMAD BrowserENSG00000258366
Varsome BrowserRTEL1
Genetic variants : HAPMAP51750
Genomic Variants (DGV)RTEL1 [DGVbeta]
DECIPHERRTEL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRTEL1 
Mutations
ICGC Data PortalRTEL1 
TCGA Data PortalRTEL1 
Broad Tumor PortalRTEL1
OASIS PortalRTEL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRTEL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRTEL1
Mutations and Diseases : HGMDRTEL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch RTEL1
DgiDB (Drug Gene Interaction Database)RTEL1
DoCM (Curated mutations)RTEL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RTEL1 (select a term)
intoGenRTEL1
Cancer3DRTEL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608833    615190    616373   
Orphanet477    2949    7029   
DisGeNETRTEL1
MedgenRTEL1
Genetic Testing Registry RTEL1
NextProtQ9NZ71 [Medical]
TSGene51750
GENETestsRTEL1
Target ValidationRTEL1
Huge Navigator RTEL1 [HugePedia]
snp3D : Map Gene to Disease51750
BioCentury BCIQRTEL1
ClinGenRTEL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51750
Chemical/Pharm GKB GenePA134915625
Clinical trialRTEL1
Miscellaneous
canSAR (ICR)RTEL1 (select the gene name)
DataMed IndexRTEL1
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRTEL1
EVEXRTEL1
GoPubMedRTEL1
iHOPRTEL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:05:52 CET 2019
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