Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ERCC6L (ERCC excision repair 6 like, spindle assembly checkpoint helicase)

Identity

Alias_namesexcision repair cross-complementing rodent repair deficiency, complementation group 6-like
excision repair cross-complementation group 6 like
Alias_symbol (synonym)FLJ20105
PICH
RAD26L
Other alias
HGNC (Hugo) ERCC6L
LocusID (NCBI) 54821
Atlas_Id 47567
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 72204665 and ends at 72239027 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)

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

 

External links

Nomenclature
HGNC (Hugo)ERCC6L   20794
Cards
Entrez_Gene (NCBI)ERCC6L  54821  ERCC excision repair 6 like, spindle assembly checkpoint helicase
AliasesPICH; RAD26L
GeneCards (Weizmann)ERCC6L
Ensembl hg19 (Hinxton)ENSG00000186871 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186871 [Gene_View]  ENSG00000186871 [Sequence]  chrX:72204665-72239027 [Contig_View]  ERCC6L [Vega]
ICGC DataPortalENSG00000186871
TCGA cBioPortalERCC6L
AceView (NCBI)ERCC6L
Genatlas (Paris)ERCC6L
WikiGenes54821
SOURCE (Princeton)ERCC6L
Genetics Home Reference (NIH)ERCC6L
Genomic and cartography
GoldenPath hg38 (UCSC)ERCC6L  -     chrX:72204665-72239027 -  Xq13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERCC6L  -     Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPathERCC6L - Xq13.1 [CytoView hg19]  ERCC6L - Xq13.1 [CytoView hg38]
Genome Data Viewer NCBIERCC6L [Mapview hg19]  
OMIM300687   
Gene and transcription
Genbank (Entrez)AK000112 AK056494 AK074719 AW015865 AY121802
RefSeq transcript (Entrez)NM_001009954 NM_017669
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERCC6L
Alternative Splicing GalleryENSG00000186871
Gene ExpressionERCC6L [ NCBI-GEO ]   ERCC6L [ EBI - ARRAY_EXPRESS ]   ERCC6L [ SEEK ]   ERCC6L [ MEM ]
Gene Expression Viewer (FireBrowse)ERCC6L [ Firebrowse - Broad ]
GenevisibleExpression of ERCC6L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54821
GTEX Portal (Tissue expression)ERCC6L
Human Protein AtlasENSG00000186871-ERCC6L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2NKX8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2NKX8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2NKX8
Splice isoforms : SwissVarQ2NKX8
PhosPhoSitePlusQ2NKX8
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SNF2-like_sf    SNF2_N    TPR-contain_dom   
Domain families : Pfam (Sanger)Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam00271    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)ERCC6L
DMDM Disease mutations54821
PDB (RSDB)5JNO   
PDB Europe5JNO   
PDB (PDBSum)5JNO   
PDB (IMB)5JNO   
Structural Biology KnowledgeBase5JNO   
SCOP (Structural Classification of Proteins)5JNO   
CATH (Classification of proteins structures)5JNO   
SuperfamilyQ2NKX8
Human Protein Atlas [tissue]ENSG00000186871-ERCC6L [tissue]
Peptide AtlasQ2NKX8
HPRD10974
IPIIPI00552569   IPI00873388   
Protein Interaction databases
DIP (DOE-UCLA)Q2NKX8
IntAct (EBI)Q2NKX8
FunCoupENSG00000186871
BioGRIDERCC6L
STRING (EMBL)ERCC6L
ZODIACERCC6L
Ontologies - Pathways
QuickGOQ2NKX8
Ontology : AmiGOcondensed chromosome kinetochore  DNA binding  DNA helicase activity  protein binding  ATP binding  cytosol  cell cycle  DNA translocase activity  DNA translocase activity  membrane  DNA duplex unwinding  cell division  
Ontology : EGO-EBIcondensed chromosome kinetochore  DNA binding  DNA helicase activity  protein binding  ATP binding  cytosol  cell cycle  DNA translocase activity  DNA translocase activity  membrane  DNA duplex unwinding  cell division  
NDEx NetworkERCC6L
Atlas of Cancer Signalling NetworkERCC6L
Wikipedia pathwaysERCC6L
Orthology - Evolution
OrthoDB54821
GeneTree (enSembl)ENSG00000186871
Phylogenetic Trees/Animal Genes : TreeFamERCC6L
HOGENOMQ2NKX8
Homologs : HomoloGeneERCC6L
Homology/Alignments : Family Browser (UCSC)ERCC6L
Gene fusions - Rearrangements
Fusion : QuiverERCC6L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERCC6L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERCC6L
dbVarERCC6L
ClinVarERCC6L
1000_GenomesERCC6L 
Exome Variant ServerERCC6L
GNOMAD BrowserENSG00000186871
Varsome BrowserERCC6L
Genetic variants : HAPMAP54821
Genomic Variants (DGV)ERCC6L [DGVbeta]
DECIPHERERCC6L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERCC6L 
Mutations
ICGC Data PortalERCC6L 
TCGA Data PortalERCC6L 
Broad Tumor PortalERCC6L
OASIS PortalERCC6L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERCC6L  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DERCC6L
Mutations and Diseases : HGMDERCC6L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutaselect ERCC6L
DgiDB (Drug Gene Interaction Database)ERCC6L
DoCM (Curated mutations)ERCC6L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERCC6L (select a term)
intoGenERCC6L
Cancer3DERCC6L (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300687   
Orphanet
DisGeNETERCC6L
MedgenERCC6L
Genetic Testing Registry ERCC6L
NextProtQ2NKX8 [Medical]
TSGene54821
GENETestsERCC6L
Open Targets GeneticsENSG00000186871  [validation]
snp3D : Map Gene to Disease54821
BioCentury BCIQERCC6L
ClinGenERCC6L
Clinical trials, drugs, therapy
Protein Interactions : CTD54821
Pharm GKB GenePA162385290
Clinical trialERCC6L
Miscellaneous
canSAR (ICR)ERCC6L (select the gene name)
HarmonizomeERCC6L
DataMed IndexERCC6L
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERCC6L
EVEXERCC6L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 19:47:57 CEST 2020
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