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SH3GL1 (extra eleven nineteen leukemia fusion gene)

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesSH3-domain GRB2-like 1
SH3 domain containing GRB2 like 1
Alias_symbol (synonym)SH3P8
SH3D2B
CNSA1
EEN
MGC111371
Other aliasEEN (extra eleven nineteen leukemia fusion gene)
HGNC (Hugo) SH3GL1
LocusID (NCBI) 6455
Atlas_Id 8
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 4360367 and ends at 4400568 bp from pter ( according to hg19-Feb_2009)  [Mapping SH3GL1.png]
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KMT2A (11q23.3) / SH3GL1 (19p13.3)KMT2B (19q13.12) / SH3GL1 (19p13.3)MAGOH (1p32.3) / SH3GL1 (19p13.3)
MAP2K7 (19p13.2) / SH3GL1 (19p13.3)MLLT1 (19p13.3) / SH3GL1 (19p13.3)SH3GL1 (19p13.3) / ANKRD24 (19p13.3)
SH3GL1 (19p13.3) / ARGLU1 (13q33.3)SH3GL1 (19p13.3) / KMT2A (11q23.3)SH3GL1 (19p13.3) / MUM1 (19p13.3)
SH3GL1 (19p13.3) / TAX1BP1 (7p15.2)SH3GL1 (19p13.3) / TPRN (9q34.3)

DNA/RNA

Transcription multiple transcript sizes, from 1 kb to the major form of 2.6 kb

Protein

Description 368 amino acids; 46 kDa (major product); contains a central alpha-helical region and a SH3 (SRC homology 3) domain in C-term
Expression wide, especially in the pancreas
Homology GRB2

Implicated in

Note
  
Entity t(11;19)(q23;p13)/AML --> KMT2A - EEN
Disease yet unknown (only one case)
Hybrid/Mutated Gene 5' MLL- 3' EEN; breakpoint at exon 6 of MLL
Abnormal Protein includes the N-term of MLL (with the AT hook and DNA binding motifs) and the major functional domain of EEN
  

Bibliography

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Citation

This paper should be referenced as such :
Huret, JL
EEN (extra eleven nineteen leukemia fusion gene)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):64-64.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/EENID8.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;19)(q23;p13) KMT2A/SH3GL1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(7;19)(p15;p13) SH3GL1/TAX1BP1
MAP2K7/SH3GL1 (19p13)
SH3GL1/ANKRD24 (19p13)
SH3GL1/MUM1 (19p13)

External links

Nomenclature
HGNC (Hugo)SH3GL1   10830
Cards
AtlasEENID8
Entrez_Gene (NCBI)SH3GL1  6455  SH3 domain containing GRB2 like 1, endophilin A2
AliasesCNSA1; EEN; SH3D2B; SH3P8
GeneCards (Weizmann)SH3GL1
Ensembl hg19 (Hinxton)ENSG00000141985 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141985 [Gene_View]  ENSG00000141985 [Sequence]  chr19:4360367-4400568 [Contig_View]  SH3GL1 [Vega]
ICGC DataPortalENSG00000141985
TCGA cBioPortalSH3GL1
AceView (NCBI)SH3GL1
Genatlas (Paris)SH3GL1
WikiGenes6455
SOURCE (Princeton)SH3GL1
Genetics Home Reference (NIH)SH3GL1
Genomic and cartography
GoldenPath hg38 (UCSC)SH3GL1  -     chr19:4360367-4400568 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3GL1  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblSH3GL1 - 19p13.3 [CytoView hg19]  SH3GL1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBISH3GL1 [Mapview hg19]  SH3GL1 [Mapview hg38]
OMIM601626   601768   
Gene and transcription
Genbank (Entrez)AK097616 AK299166 AK315450 AY364240 BC000089
RefSeq transcript (Entrez)NM_001199943 NM_001199944 NM_003025
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH3GL1
Cluster EST : UnigeneHs.490415 [ NCBI ]
CGAP (NCI)Hs.490415
Alternative Splicing GalleryENSG00000141985
Gene ExpressionSH3GL1 [ NCBI-GEO ]   SH3GL1 [ EBI - ARRAY_EXPRESS ]   SH3GL1 [ SEEK ]   SH3GL1 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3GL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6455
GTEX Portal (Tissue expression)SH3GL1
Human Protein AtlasENSG00000141985-SH3GL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99961   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99961  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99961
Splice isoforms : SwissVarQ99961
PhosPhoSitePlusQ99961
Domaine pattern : Prosite (Expaxy)BAR (PS51021)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR_dom_sf    BAR_dom    Endophilin-A    Endophilin_A_SH3    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)BAR (PF03114)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam03114    pfam00018   
Domain families : Smart (EMBL)BAR (SM00721)  SH3 (SM00326)  
Conserved Domain (NCBI)SH3GL1
DMDM Disease mutations6455
Blocks (Seattle)SH3GL1
SuperfamilyQ99961
Human Protein Atlas [tissue]ENSG00000141985-SH3GL1 [tissue]
Peptide AtlasQ99961
HPRD03462
IPIIPI00979499   IPI00644418   IPI00019169   
Protein Interaction databases
DIP (DOE-UCLA)Q99961
IntAct (EBI)Q99961
FunCoupENSG00000141985
BioGRIDSH3GL1
STRING (EMBL)SH3GL1
ZODIACSH3GL1
Ontologies - Pathways
QuickGOQ99961
Ontology : AmiGOpodosome  protein binding  cytoplasm  cytosol  signal transduction  central nervous system development  protein C-terminus binding  lipid binding  synaptic vesicle uncoating  SH3 domain binding  phosphatase binding  cell junction  beta-1 adrenergic receptor binding  early endosome membrane  identical protein binding  cell projection  ion channel binding  cadherin binding  GTPase binding  Schaffer collateral - CA1 synapse  hippocampal mossy fiber to CA3 synapse  presynapse  modulation of excitatory postsynaptic potential  glutamatergic synapse  postsynaptic density, intracellular component  positive regulation of synaptic vesicle endocytosis  
Ontology : EGO-EBIpodosome  protein binding  cytoplasm  cytosol  signal transduction  central nervous system development  protein C-terminus binding  lipid binding  synaptic vesicle uncoating  SH3 domain binding  phosphatase binding  cell junction  beta-1 adrenergic receptor binding  early endosome membrane  identical protein binding  cell projection  ion channel binding  cadherin binding  GTPase binding  Schaffer collateral - CA1 synapse  hippocampal mossy fiber to CA3 synapse  presynapse  modulation of excitatory postsynaptic potential  glutamatergic synapse  postsynaptic density, intracellular component  positive regulation of synaptic vesicle endocytosis  
Pathways : KEGGEndocytosis   
REACTOMEQ99961 [protein]
REACTOME PathwaysR-HSA-8875360 [pathway]   
NDEx NetworkSH3GL1
Atlas of Cancer Signalling NetworkSH3GL1
Wikipedia pathwaysSH3GL1
Orthology - Evolution
OrthoDB6455
GeneTree (enSembl)ENSG00000141985
Phylogenetic Trees/Animal Genes : TreeFamSH3GL1
HOVERGENQ99961
HOGENOMQ99961
Homologs : HomoloGeneSH3GL1
Homology/Alignments : Family Browser (UCSC)SH3GL1
Gene fusions - Rearrangements
Fusion : MitelmanMAP2K7/SH3GL1 [19p13.2/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSH3GL1/ANKRD24 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSH3GL1/MUM1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSH3GL1/TAX1BP1 [19p13.3/7p15.2]  [t(7;19)(p15;p13)]  
Fusion : COSMICKMT2A [SH3GL1]  -  1914 [1915]  
Fusion PortalMAP2K7 19p13.2 SH3GL1 19p13.3 BRCA
Fusion PortalSH3GL1 19p13.3 ANKRD24 19p13.3 BRCA
Fusion PortalSH3GL1 19p13.3 MUM1 19p13.3 BRCA
Fusion PortalSH3GL1 19p13.3 TAX1BP1 7p15.2 BRCA
Fusion : TICdbKMT2A [11q23.3]  -  SH3GL1 [19p13.3]
Fusion : QuiverSH3GL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3GL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3GL1
dbVarSH3GL1
ClinVarSH3GL1
1000_GenomesSH3GL1 
Exome Variant ServerSH3GL1
ExAC (Exome Aggregation Consortium)ENSG00000141985
GNOMAD BrowserENSG00000141985
Varsome BrowserSH3GL1
Genetic variants : HAPMAP6455
Genomic Variants (DGV)SH3GL1 [DGVbeta]
DECIPHERSH3GL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH3GL1 
Mutations
ICGC Data PortalSH3GL1 
TCGA Data PortalSH3GL1 
Broad Tumor PortalSH3GL1
OASIS PortalSH3GL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3GL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3GL1
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 SH3GL1
DgiDB (Drug Gene Interaction Database)SH3GL1
DoCM (Curated mutations)SH3GL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3GL1 (select a term)
intoGenSH3GL1
NCG5 (London)SH3GL1
Cancer3DSH3GL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601626    601768   
Orphanet
DisGeNETSH3GL1
MedgenSH3GL1
Genetic Testing Registry SH3GL1
NextProtQ99961 [Medical]
TSGene6455
GENETestsSH3GL1
Target ValidationSH3GL1
Huge Navigator SH3GL1 [HugePedia]
snp3D : Map Gene to Disease6455
BioCentury BCIQSH3GL1
ClinGenSH3GL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6455
Chemical/Pharm GKB GenePA35736
Clinical trialSH3GL1
Miscellaneous
canSAR (ICR)SH3GL1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3GL1
EVEXSH3GL1
GoPubMedSH3GL1
iHOPSH3GL1
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 6 12:15:49 CET 2018
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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.