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ERCC6L2 (ERCC excision repair 6 like 2)

Identity

Alias (NCBI)BMFS2
C9orf102
HEBO
RAD26L
SR278
HGNC (Hugo) ERCC6L2
HGNC Alias symbFLJ37706
RAD26L
HEBO
HGNC Previous nameC9orf102
HGNC Previous namechromosome 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
LocusID (NCBI) 375748
Atlas_Id 41176
Location 9q22.32  [Link to chromosome band 9q22]
Location_base_pair Starts at 95875691 and ends at 96018442 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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;9)(q33;q22) ERCC6L2::SF3B1
t(9;19)(q22;q13) ERCC6L2::TGFB1


External links

 

Nomenclature
HGNC (Hugo)ERCC6L2   26922
Cards
Entrez_Gene (NCBI)ERCC6L2    ERCC excision repair 6 like 2
AliasesBMFS2; C9orf102; HEBO; RAD26L; 
SR278
GeneCards (Weizmann)ERCC6L2
Ensembl hg19 (Hinxton)ENSG00000182150 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182150 [Gene_View]  ENSG00000182150 [Sequence]  chr9:95875691-96018442 [Contig_View]  ERCC6L2 [Vega]
ICGC DataPortalENSG00000182150
TCGA cBioPortalERCC6L2
AceView (NCBI)ERCC6L2
Genatlas (Paris)ERCC6L2
SOURCE (Princeton)ERCC6L2
Genetics Home Reference (NIH)ERCC6L2
Genomic and cartography
GoldenPath hg38 (UCSC)ERCC6L2  -     chr9:95875691-96018442 +  9q22.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERCC6L2  -     9q22.32   [Description]    (hg19-Feb_2009)
GoldenPathERCC6L2 - 9q22.32 [CytoView hg19]  ERCC6L2 - 9q22.32 [CytoView hg38]
ImmunoBaseENSG00000182150
Genome Data Viewer NCBIERCC6L2 [Mapview hg19]  
OMIM615667   615715   
Gene and transcription
Genbank (Entrez)AK094719 AK095025 AK307504 AK308131 AK308409
RefSeq transcript (Entrez)NM_001010895 NM_001034155 NM_001375291 NM_001375292 NM_001375293 NM_001375294 NM_020207
Consensus coding sequences : CCDS (NCBI)ERCC6L2
Gene ExpressionERCC6L2 [ NCBI-GEO ]   ERCC6L2 [ EBI - ARRAY_EXPRESS ]   ERCC6L2 [ SEEK ]   ERCC6L2 [ MEM ]
Gene Expression Viewer (FireBrowse)ERCC6L2 [ Firebrowse - Broad ]
GenevisibleExpression of ERCC6L2 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
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   [ MEROPS ]
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-like_sf    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
PDB (RSDB)6HQ9   
PDB Europe6HQ9   
PDB (PDBSum)6HQ9   
PDB (IMB)6HQ9   
Structural Biology KnowledgeBase6HQ9   
SCOP (Structural Classification of Proteins)6HQ9   
CATH (Classification of proteins structures)6HQ9   
SuperfamilyQ5T890
AlphaFold pdb e-kbQ5T890   
Human Protein Atlas [tissue]ENSG00000182150-ERCC6L2 [tissue]
HPRD17362
Protein Interaction databases
DIP (DOE-UCLA)Q5T890
IntAct (EBI)Q5T890
BioGRIDERCC6L2
STRING (EMBL)ERCC6L2
ZODIACERCC6L2
Ontologies - Pathways
QuickGOQ5T890
Ontology : AmiGODNA binding  helicase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  centrosome  hydrolase activity  protein kinase binding  protein-containing complex  cellular response to reactive oxygen species  interstrand cross-link repair  nucleosome-dependent ATPase activity  
Ontology : EGO-EBIDNA binding  helicase activity  protein binding  ATP binding  nucleus  cytoplasm  mitochondrion  centrosome  hydrolase activity  protein kinase binding  protein-containing complex  cellular response to reactive oxygen species  interstrand cross-link repair  nucleosome-dependent ATPase activity  
NDEx NetworkERCC6L2
Atlas of Cancer Signalling NetworkERCC6L2
Wikipedia pathwaysERCC6L2
Orthology - Evolution
OrthoDB375748
GeneTree (enSembl)ENSG00000182150
Phylogenetic Trees/Animal Genes : TreeFamERCC6L2
Homologs : HomoloGeneERCC6L2
Homology/Alignments : Family Browser (UCSC)ERCC6L2
Gene fusions - Rearrangements
Fusion : MitelmanDHCR24::ERCC6L2 [1p32.3/9q22.32]  
Fusion : MitelmanERCC6L2::GTF3C4 [9q22.32/9q34.13]  
Fusion : MitelmanERCC6L2::IPPK [9q22.32/9q22.31]  
Fusion : MitelmanTTC6::ERCC6L2 [14q21.1/9q22.32]  
Fusion : QuiverERCC6L2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERCC6L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERCC6L2
dbVarERCC6L2
ClinVarERCC6L2
MonarchERCC6L2
1000_GenomesERCC6L2 
Exome Variant ServerERCC6L2
GNOMAD BrowserENSG00000182150
Varsome BrowserERCC6L2
ACMGERCC6L2 variants
VarityQ5T890
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]  
Somatic Mutations in Cancer : COSMIC3DERCC6L2
Mutations and Diseases : HGMDERCC6L2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaERCC6L2
DgiDB (Drug Gene Interaction Database)ERCC6L2
DoCM (Curated mutations)ERCC6L2
CIViC (Clinical Interpretations of Variants in Cancer)ERCC6L2
Cancer3DERCC6L2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615667    615715   
Orphanet22824   
DisGeNETERCC6L2
MedgenERCC6L2
Genetic Testing Registry ERCC6L2
NextProtQ5T890 [Medical]
GENETestsERCC6L2
Target ValidationERCC6L2
Huge Navigator ERCC6L2 [HugePedia]
ClinGenERCC6L2
Clinical trials, drugs, therapy
MyCancerGenomeERCC6L2
Protein Interactions : CTDERCC6L2
Pharm GKB GenePA134961240
PharosQ5T890
Clinical trialERCC6L2
Miscellaneous
canSAR (ICR)ERCC6L2
HarmonizomeERCC6L2
ARCHS4ERCC6L2
DataMed IndexERCC6L2
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXERCC6L2
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 : Mon Jan 17 15:23:32 CET 2022

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