Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ELN (elastin)

Identity

Alias_symbol (synonym)WBS
WS
SVAS
Other aliasADCL1
HGNC (Hugo) ELN
LocusID (NCBI) 2006
Atlas_Id 43052
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 74027789 and ends at 74069906 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)
EIF4H (7q11.23) / ELN (7q11.23)ELN (7q11.23) / ADGRG1 (16q21)ELN (7q11.23) / AP2M1 (3q27.1)
ELN (7q11.23) / CAPG (2p11.2)ELN (7q11.23) / ELN (7q11.23)ELN (7q11.23) / METTL2B (7q32.1)
ELN (7q11.23) / PAX5 (9p13.2)ELN (7q11.23) / RBBP4 (1p35.1)ELN (7q11.23) / TXNDC5 (6p24.3)
IKZF5 (10q26.13) / ELN (7q11.23)NCOR2 (12q24.31) / ELN (7q11.23)PAX5 (9p13.2) / ELN (7q11.23)
EIF4H 7q11.23 / ELN 7q11.23ELN 7q11.23 / METTL2B 7q32.1

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) [ 1 ]
  t(7;9)(q11;p13) PAX5/ELN


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(7;7)(q11;q11) EIF4H/ELN
t(7;7)(q11;q32) ELN/METTL2B
t(7;12)(q11;q24) NCOR2/ELN


External links

Nomenclature
HGNC (Hugo)ELN   3327
Cards
Entrez_Gene (NCBI)ELN  2006  elastin
AliasesADCL1; SVAS; WBS; WS
GeneCards (Weizmann)ELN
Ensembl hg19 (Hinxton)ENSG00000049540 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000049540 [Gene_View]  chr7:74027789-74069906 [Contig_View]  ELN [Vega]
ICGC DataPortalENSG00000049540
TCGA cBioPortalELN
AceView (NCBI)ELN
Genatlas (Paris)ELN
WikiGenes2006
SOURCE (Princeton)ELN
Genetics Home Reference (NIH)ELN
Genomic and cartography
GoldenPath hg38 (UCSC)ELN  -     chr7:74027789-74069906 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELN  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblELN - 7q11.23 [CytoView hg19]  ELN - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIELN [Mapview hg19]  ELN [Mapview hg38]
OMIM123700   130160   185500   194050   
Gene and transcription
Genbank (Entrez)AA600350 AB208942 AF086171 AK075494 AK075554
RefSeq transcript (Entrez)NM_000501 NM_001081752 NM_001081753 NM_001081754 NM_001081755 NM_001278912 NM_001278913 NM_001278914 NM_001278915 NM_001278916 NM_001278917 NM_001278918 NM_001278939
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELN
Cluster EST : UnigeneHs.647061 [ NCBI ]
CGAP (NCI)Hs.647061
Alternative Splicing GalleryENSG00000049540
Gene ExpressionELN [ NCBI-GEO ]   ELN [ EBI - ARRAY_EXPRESS ]   ELN [ SEEK ]   ELN [ MEM ]
Gene Expression Viewer (FireBrowse)ELN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2006
GTEX Portal (Tissue expression)ELN
Human Protein AtlasENSG00000049540-ELN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15502   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15502  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15502
Splice isoforms : SwissVarP15502
PhosPhoSitePlusP15502
Domains : Interpro (EBI)Tropoelastin   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ELN
DMDM Disease mutations2006
Blocks (Seattle)ELN
SuperfamilyP15502
Human Protein Atlas [tissue]ENSG00000049540-ELN [tissue]
Peptide AtlasP15502
HPRD00556
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)P15502
IntAct (EBI)P15502
FunCoupENSG00000049540
BioGRIDELN
STRING (EMBL)ELN
ZODIACELN
Ontologies - Pathways
QuickGOP15502
Ontology : AmiGOextracellular matrix structural constituent  protein binding  extracellular region  proteinaceous extracellular matrix  respiratory gaseous exchange  blood circulation  cell proliferation  animal organ morphogenesis  extracellular matrix disassembly  extracellular matrix organization  extracellular matrix  elastic fiber  
Ontology : EGO-EBIextracellular matrix structural constituent  protein binding  extracellular region  proteinaceous extracellular matrix  respiratory gaseous exchange  blood circulation  cell proliferation  animal organ morphogenesis  extracellular matrix disassembly  extracellular matrix organization  extracellular matrix  elastic fiber  
NDEx NetworkELN
Atlas of Cancer Signalling NetworkELN
Wikipedia pathwaysELN
Orthology - Evolution
OrthoDB2006
GeneTree (enSembl)ENSG00000049540
Phylogenetic Trees/Animal Genes : TreeFamELN
HOVERGENP15502
HOGENOMP15502
Homologs : HomoloGeneELN
Homology/Alignments : Family Browser (UCSC)ELN
Gene fusions - Rearrangements
Fusion : MitelmanEIF4H/ELN [7q11.23/7q11.23]  [t(7;7)(q11;q11)]  
Fusion : MitelmanELN/METTL2B [7q11.23/7q32.1]  [t(7;7)(q11;q32)]  
Fusion : MitelmanNCOR2/ELN [12q24.31/7q11.23]  [t(7;12)(q11;q24)]  
Fusion : MitelmanPAX5/ELN [9p13.2/7q11.23]  [t(7;9)(q11;p13)]  
Fusion: TCGA_MDACCEIF4H 7q11.23 ELN 7q11.23 LUAD
Fusion: TCGA_MDACCELN 7q11.23 METTL2B 7q32.1 BRCA
Fusion PortalEIF4H 7q11.23 ELN 7q11.23 LUAD
Fusion PortalELN 7q11.23 METTL2B 7q32.1 BRCA
Fusion : QuiverELN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELN
dbVarELN
ClinVarELN
1000_GenomesELN 
Exome Variant ServerELN
ExAC (Exome Aggregation Consortium)ENSG00000049540
GNOMAD BrowserENSG00000049540
Genetic variants : HAPMAP2006
Genomic Variants (DGV)ELN [DGVbeta]
DECIPHERELN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELN 
Mutations
ICGC Data PortalELN 
TCGA Data PortalELN 
Broad Tumor PortalELN
OASIS PortalELN [ Somatic mutations - Copy number]
Cancer Gene: CensusELN 
Somatic Mutations in Cancer : COSMICELN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELN
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ELN
DgiDB (Drug Gene Interaction Database)ELN
DoCM (Curated mutations)ELN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELN (select a term)
intoGenELN
Cancer3DELN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123700    130160    185500    194050   
Orphanet145    2859    12024   
DisGeNETELN
MedgenELN
Genetic Testing Registry ELN
NextProtP15502 [Medical]
TSGene2006
GENETestsELN
Target ValidationELN
Huge Navigator ELN [HugePedia]
snp3D : Map Gene to Disease2006
BioCentury BCIQELN
ClinGenELN (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2006
Chemical/Pharm GKB GenePA27757
Clinical trialELN
Miscellaneous
canSAR (ICR)ELN (select the gene name)
Probes
Litterature
PubMed245 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELN
EVEXELN
GoPubMedELN
iHOPELN
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 Jun 18 19:19:12 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.