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ERCC6L2 (ERCC excision repair 6 like 2)

Identity

Alias_namesC9orf102
chromosome 9 open reading frame 102
excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2
excision repair cross-complementation group 6 like 2
Alias_symbol (synonym)FLJ37706
RAD26L
Other aliasBMFS2
SR278
HGNC (Hugo) ERCC6L2
LocusID (NCBI) 375748
Atlas_Id 41176
Location 9q22.32  [Link to chromosome band 9q22]
Location_base_pair Starts at 95875618 and ends at 95968840 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)
DHCR24 (1p32.3) / ERCC6L2 (9q22.32)ERCC6L2 (9q22.32) / ABCC3 (17q21.33)ERCC6L2 (9q22.32) / GTF3C4 (9q34.13)
ERCC6L2 (9q22.32) / IPPK (9q22.31)TTC6 (14q21.1) / ERCC6L2 (9q22.32)

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)ERCC6L2   26922
Cards
Entrez_Gene (NCBI)ERCC6L2  375748  ERCC excision repair 6 like 2
AliasesBMFS2; C9orf102; RAD26L; SR278
GeneCards (Weizmann)ERCC6L2
Ensembl hg19 (Hinxton)ENSG00000182150 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182150 [Gene_View]  chr9:95875618-95968840 [Contig_View]  ERCC6L2 [Vega]
ICGC DataPortalENSG00000182150
TCGA cBioPortalERCC6L2
AceView (NCBI)ERCC6L2
Genatlas (Paris)ERCC6L2
WikiGenes375748
SOURCE (Princeton)ERCC6L2
Genetics Home Reference (NIH)ERCC6L2
Genomic and cartography
GoldenPath hg38 (UCSC)ERCC6L2  -     chr9:95875618-95968840 +  9q22.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERCC6L2  -     9q22.32   [Description]    (hg19-Feb_2009)
EnsemblERCC6L2 - 9q22.32 [CytoView hg19]  ERCC6L2 - 9q22.32 [CytoView hg38]
Mapping of homologs : NCBIERCC6L2 [Mapview hg19]  ERCC6L2 [Mapview hg38]
OMIM615667   615715   
Gene and transcription
Genbank (Entrez)AK094719 AK095025 AK307504 AK308131 AK308409
RefSeq transcript (Entrez)NM_001010895 NM_001034155 NM_020207
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERCC6L2
Cluster EST : UnigeneHs.732570 [ NCBI ]
CGAP (NCI)Hs.732570
Alternative Splicing GalleryENSG00000182150
Gene ExpressionERCC6L2 [ NCBI-GEO ]   ERCC6L2 [ EBI - ARRAY_EXPRESS ]   ERCC6L2 [ SEEK ]   ERCC6L2 [ MEM ]
Gene Expression Viewer (FireBrowse)ERCC6L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375748
GTEX Portal (Tissue expression)ERCC6L2
Human Protein AtlasENSG00000182150-ERCC6L2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T890   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T890  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T890
Splice isoforms : SwissVarQ5T890
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
PhosPhoSitePlusQ5T890
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)DNA/RNA_helicase_DEAH_CS    Helicase_ATP-bd    Helicase_C    Heliccase-ass-bd    P-loop_NTPase    SNF2_N   
Domain families : Pfam (Sanger)Helicase_C (PF00271)    SNF2_N (PF00176)    VIGSSK (PF14773)   
Domain families : Pfam (NCBI)pfam00271    pfam00176    pfam14773   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
Conserved Domain (NCBI)ERCC6L2
DMDM Disease mutations375748
Blocks (Seattle)ERCC6L2
SuperfamilyQ5T890
Human Protein Atlas [tissue]ENSG00000182150-ERCC6L2 [tissue]
Peptide AtlasQ5T890
HPRD17362
IPIIPI00395940   IPI00873984   IPI00641648   IPI00903093   IPI00827832   
Protein Interaction databases
DIP (DOE-UCLA)Q5T890
IntAct (EBI)Q5T890
FunCoupENSG00000182150
BioGRIDERCC6L2
STRING (EMBL)ERCC6L2
ZODIACERCC6L2
Ontologies - Pathways
QuickGOQ5T890
Ontology : AmiGODNA binding  ATP binding  nucleus  mitochondrion  microtubule organizing center  DNA repair  ATP-dependent helicase activity  
Ontology : EGO-EBIDNA binding  ATP binding  nucleus  mitochondrion  microtubule organizing center  DNA repair  ATP-dependent helicase activity  
NDEx NetworkERCC6L2
Atlas of Cancer Signalling NetworkERCC6L2
Wikipedia pathwaysERCC6L2
Orthology - Evolution
OrthoDB375748
GeneTree (enSembl)ENSG00000182150
Phylogenetic Trees/Animal Genes : TreeFamERCC6L2
HOVERGENQ5T890
HOGENOMQ5T890
Homologs : HomoloGeneERCC6L2
Homology/Alignments : Family Browser (UCSC)ERCC6L2
Gene fusions - Rearrangements
Fusion : MitelmanDHCR24/ERCC6L2 [1p32.3/9q22.32]  [t(1;9)(p32;q22)]  
Fusion : MitelmanERCC6L2/GTF3C4 [9q22.32/9q34.13]  [t(9;9)(q22;q34)]  
Fusion : MitelmanERCC6L2/IPPK [9q22.32/9q22.31]  [t(9;9)(q22;q22)]  
Fusion : MitelmanTTC6/ERCC6L2 [14q21.1/9q22.32]  [t(9;14)(q22;q21)]  
Tumor Fusion PortalERCC6L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERCC6L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERCC6L2
dbVarERCC6L2
ClinVarERCC6L2
1000_GenomesERCC6L2 
Exome Variant ServerERCC6L2
ExAC (Exome Aggregation Consortium)ENSG00000182150
GNOMAD BrowserENSG00000182150
Genetic variants : HAPMAP375748
Genomic Variants (DGV)ERCC6L2 [DGVbeta]
DECIPHERERCC6L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERCC6L2 
Mutations
ICGC Data PortalERCC6L2 
TCGA Data PortalERCC6L2 
Broad Tumor PortalERCC6L2
OASIS PortalERCC6L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERCC6L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERCC6L2
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
BioMutasearch ERCC6L2
DgiDB (Drug Gene Interaction Database)ERCC6L2
DoCM (Curated mutations)ERCC6L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERCC6L2 (select a term)
intoGenERCC6L2
Cancer3DERCC6L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615667    615715   
Orphanet22824   
DisGeNETERCC6L2
MedgenERCC6L2
Genetic Testing Registry ERCC6L2
NextProtQ5T890 [Medical]
TSGene375748
GENETestsERCC6L2
Target ValidationERCC6L2
Huge Navigator ERCC6L2 [HugePedia]
snp3D : Map Gene to Disease375748
BioCentury BCIQERCC6L2
ClinGenERCC6L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375748
Chemical/Pharm GKB GenePA134961240
Clinical trialERCC6L2
Miscellaneous
canSAR (ICR)ERCC6L2 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERCC6L2
EVEXERCC6L2
GoPubMedERCC6L2
iHOPERCC6L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:12:14 CET 2017

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