Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EML1 (echinoderm microtubule associated protein like 1)

Identity

Alias_namesEMAPL
Alias_symbol (synonym)EMAP
HuEMAP
ELP79
Other aliasBH
HGNC (Hugo) EML1
LocusID (NCBI) 2009
Atlas_Id 42966
Location 14q32.2  [Link to chromosome band 14q32]
Location_base_pair Starts at 99793408 and ends at 99942058 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)
ABL1 (9q34.12) / EML1 (14q32.2)CDH5 (16q21) / EML1 (14q32.2)EML1 (14q32.2) / ABL1 (9q34.12)
EML1 (14q32.2) / CCNK (14q32.2)EML1 (14q32.2) / FBLN5 (14q32.12)EVL (14q32.2) / EML1 (14q32.2)
EML1 14q32.2 / CCNK 14q32.2EML1 14q32.2 / FBLN5 14q32.12EVL 14q32.2 / EML1 14q32.2

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(9;14)(q34;q32) EML1/ABL1
T-lineage acute lymphoblastic leukemia (T-ALL)


External links

Nomenclature
HGNC (Hugo)EML1   3330
Cards
Entrez_Gene (NCBI)EML1  2009  echinoderm microtubule associated protein like 1
AliasesBH; ELP79; EMAP; EMAPL; 
HuEMAP
GeneCards (Weizmann)EML1
Ensembl hg19 (Hinxton)ENSG00000066629 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000066629 [Gene_View]  chr14:99793408-99942058 [Contig_View]  EML1 [Vega]
ICGC DataPortalENSG00000066629
TCGA cBioPortalEML1
AceView (NCBI)EML1
Genatlas (Paris)EML1
WikiGenes2009
SOURCE (Princeton)EML1
Genetics Home Reference (NIH)EML1
Genomic and cartography
GoldenPath hg38 (UCSC)EML1  -     chr14:99793408-99942058 +  14q32.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EML1  -     14q32.2   [Description]    (hg19-Feb_2009)
EnsemblEML1 - 14q32.2 [CytoView hg19]  EML1 - 14q32.2 [CytoView hg38]
Mapping of homologs : NCBIEML1 [Mapview hg19]  EML1 [Mapview hg38]
OMIM600348   602033   
Gene and transcription
Genbank (Entrez)AF035276 AK023861 AK126980 AK299812 AK307925
RefSeq transcript (Entrez)NM_001008707 NM_004434
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EML1
Cluster EST : UnigeneHs.12451 [ NCBI ]
CGAP (NCI)Hs.12451
Alternative Splicing GalleryENSG00000066629
Gene ExpressionEML1 [ NCBI-GEO ]   EML1 [ EBI - ARRAY_EXPRESS ]   EML1 [ SEEK ]   EML1 [ MEM ]
Gene Expression Viewer (FireBrowse)EML1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2009
GTEX Portal (Tissue expression)EML1
Human Protein AtlasENSG00000066629-EML1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00423   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00423  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00423
Splice isoforms : SwissVarO00423
PhosPhoSitePlusO00423
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)HELP    Quinoprotein_ADH-like_supfam    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)HELP (PF03451)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam03451    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)EML1
DMDM Disease mutations2009
Blocks (Seattle)EML1
PDB (SRS)4CI8   
PDB (PDBSum)4CI8   
PDB (IMB)4CI8   
PDB (RSDB)4CI8   
Structural Biology KnowledgeBase4CI8   
SCOP (Structural Classification of Proteins)4CI8   
CATH (Classification of proteins structures)4CI8   
SuperfamilyO00423
Human Protein Atlas [tissue]ENSG00000066629-EML1 [tissue]
Peptide AtlasO00423
HPRD03613
IPIIPI00334011   IPI00550611   IPI01009898   IPI01024810   IPI01024698   IPI01024859   IPI01026361   IPI01026334   IPI01025998   IPI01026116   IPI01025767   IPI01025860   IPI01025502   IPI01025631   IPI01025232   
Protein Interaction databases
DIP (DOE-UCLA)O00423
IntAct (EBI)O00423
FunCoupENSG00000066629
BioGRIDEML1
STRING (EMBL)EML1
ZODIACEML1
Ontologies - Pathways
QuickGOO00423
Ontology : AmiGOmicrotubule cytoskeleton organization  hematopoietic progenitor cell differentiation  calcium ion binding  protein binding  cytosol  microtubule  microtubule associated complex  mitotic spindle organization  neuroblast proliferation  brain development  brain development  microtubule binding  microtubule binding  microtubule cytoskeleton  tubulin binding  perinuclear region of cytoplasm  mitotic spindle pole  mitotic spindle midzone  
Ontology : EGO-EBImicrotubule cytoskeleton organization  hematopoietic progenitor cell differentiation  calcium ion binding  protein binding  cytosol  microtubule  microtubule associated complex  mitotic spindle organization  neuroblast proliferation  brain development  brain development  microtubule binding  microtubule binding  microtubule cytoskeleton  tubulin binding  perinuclear region of cytoplasm  mitotic spindle pole  mitotic spindle midzone  
NDEx NetworkEML1
Atlas of Cancer Signalling NetworkEML1
Wikipedia pathwaysEML1
Orthology - Evolution
OrthoDB2009
GeneTree (enSembl)ENSG00000066629
Phylogenetic Trees/Animal Genes : TreeFamEML1
HOVERGENO00423
HOGENOMO00423
Homologs : HomoloGeneEML1
Homology/Alignments : Family Browser (UCSC)EML1
Gene fusions - Rearrangements
Fusion : MitelmanEML1/ABL1 [14q32.2/9q34.12]  
Fusion : MitelmanEML1/CCNK [14q32.2/14q32.2]  [t(14;14)(q32;q32)]  
Fusion : MitelmanEML1/FBLN5 [14q32.2/14q32.12]  [t(14;14)(q32;q32)]  
Fusion : MitelmanEVL/EML1 [14q32.2/14q32.2]  [t(14;14)(q32;q32)]  
Fusion: TCGA_MDACCEML1 14q32.2 CCNK 14q32.2 BRCA
Fusion: TCGA_MDACCEML1 14q32.2 FBLN5 14q32.12 LGG
Fusion: TCGA_MDACCEVL 14q32.2 EML1 14q32.2 BRCA
Tumor Fusion PortalEML1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEML1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EML1
dbVarEML1
ClinVarEML1
1000_GenomesEML1 
Exome Variant ServerEML1
ExAC (Exome Aggregation Consortium)ENSG00000066629
GNOMAD BrowserENSG00000066629
Genetic variants : HAPMAP2009
Genomic Variants (DGV)EML1 [DGVbeta]
DECIPHEREML1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEML1 
Mutations
ICGC Data PortalEML1 
TCGA Data PortalEML1 
Broad Tumor PortalEML1
OASIS PortalEML1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEML1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEML1
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 EML1
DgiDB (Drug Gene Interaction Database)EML1
DoCM (Curated mutations)EML1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EML1 (select a term)
intoGenEML1
Cancer3DEML1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600348    602033   
Orphanet14369   
DisGeNETEML1
MedgenEML1
Genetic Testing Registry EML1
NextProtO00423 [Medical]
TSGene2009
GENETestsEML1
Target ValidationEML1
Huge Navigator EML1 [HugePedia]
snp3D : Map Gene to Disease2009
BioCentury BCIQEML1
ClinGenEML1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2009
Chemical/Pharm GKB GenePA27767
Clinical trialEML1
Miscellaneous
canSAR (ICR)EML1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEML1
EVEXEML1
GoPubMedEML1
iHOPEML1
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 14:11:59 CET 2017

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