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L3MBTL3 (l(3)mbt-like 3 (Drosophila))

Identity

Alias_symbol (synonym)KIAA1798
Other aliasMBT-1
MBT1
HGNC (Hugo) L3MBTL3
LocusID (NCBI) 84456
Atlas_Id 65154
Location 6q23.1  [Link to chromosome band 6q23]
Location_base_pair Starts at 130018369 and ends at 130141449 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)
L3MBTL3 (6q23.1) / FAM63A (1q21.3)L3MBTL3 (6q23.1) / L3MBTL3 (6q23.1)L3MBTL3 (6q23.1) / PTPRK (6q22.33)
L3MBTL3 (6q23.1) / WDR37 (10p15.3)NCOA7 (6q22.32) / L3MBTL3 (6q23.1)

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) [ 2 ]
  t(6;6)(q22;q23) L3MBTL3/PTPRK
t(6;6)(q22;q23) L3MBTL3/PTPRK


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;10)(q23;p15) L3MBTL3/WDR37


External links

Nomenclature
HGNC (Hugo)L3MBTL3   23035
Cards
Entrez_Gene (NCBI)L3MBTL3  84456  l(3)mbt-like 3 (Drosophila)
AliasesMBT-1; MBT1
GeneCards (Weizmann)L3MBTL3
Ensembl hg19 (Hinxton)ENSG00000198945 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198945 [Gene_View]  chr6:130018369-130141449 [Contig_View]  L3MBTL3 [Vega]
ICGC DataPortalENSG00000198945
TCGA cBioPortalL3MBTL3
AceView (NCBI)L3MBTL3
Genatlas (Paris)L3MBTL3
WikiGenes84456
SOURCE (Princeton)L3MBTL3
Genetics Home Reference (NIH)L3MBTL3
Genomic and cartography
GoldenPath hg38 (UCSC)L3MBTL3  -     chr6:130018369-130141449 +  6q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)L3MBTL3  -     6q23.1   [Description]    (hg19-Feb_2009)
EnsemblL3MBTL3 - 6q23.1 [CytoView hg19]  L3MBTL3 - 6q23.1 [CytoView hg38]
Mapping of homologs : NCBIL3MBTL3 [Mapview hg19]  L3MBTL3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB058701 AI123736 AK092756 AK094137 AK290219
RefSeq transcript (Entrez)NM_001007102 NM_001346550 NM_001346551 NM_032438
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)L3MBTL3
Cluster EST : UnigeneHs.658051 [ NCBI ]
CGAP (NCI)Hs.658051
Alternative Splicing GalleryENSG00000198945
Gene ExpressionL3MBTL3 [ NCBI-GEO ]   L3MBTL3 [ EBI - ARRAY_EXPRESS ]   L3MBTL3 [ SEEK ]   L3MBTL3 [ MEM ]
Gene Expression Viewer (FireBrowse)L3MBTL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84456
GTEX Portal (Tissue expression)L3MBTL3
Human Protein AtlasENSG00000198945-L3MBTL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JM7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JM7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JM7
Splice isoforms : SwissVarQ96JM7
PhosPhoSitePlusQ96JM7
Domaine pattern : Prosite (Expaxy)MBT (PS51079)    SAM_DOMAIN (PS50105)    ZF_CCHHC (PS51802)   
Domains : Interpro (EBI)Mbt    SAM    SAM/pointed   
Domain families : Pfam (Sanger)MBT (PF02820)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam02820    pfam00536   
Domain families : Smart (EMBL)MBT (SM00561)  SAM (SM00454)  
Conserved Domain (NCBI)L3MBTL3
DMDM Disease mutations84456
Blocks (Seattle)L3MBTL3
PDB (SRS)1WJQ    1WJS    3UT1    4FL6    4L59   
PDB (PDBSum)1WJQ    1WJS    3UT1    4FL6    4L59   
PDB (IMB)1WJQ    1WJS    3UT1    4FL6    4L59   
PDB (RSDB)1WJQ    1WJS    3UT1    4FL6    4L59   
Structural Biology KnowledgeBase1WJQ    1WJS    3UT1    4FL6    4L59   
SCOP (Structural Classification of Proteins)1WJQ    1WJS    3UT1    4FL6    4L59   
CATH (Classification of proteins structures)1WJQ    1WJS    3UT1    4FL6    4L59   
SuperfamilyQ96JM7
Human Protein Atlas [tissue]ENSG00000198945-L3MBTL3 [tissue]
Peptide AtlasQ96JM7
HPRD11222
IPIIPI00306511   IPI00477428   IPI00981941   IPI00981614   
Protein Interaction databases
DIP (DOE-UCLA)Q96JM7
IntAct (EBI)Q96JM7
FunCoupENSG00000198945
BioGRIDL3MBTL3
STRING (EMBL)L3MBTL3
ZODIACL3MBTL3
Ontologies - Pathways
QuickGOQ96JM7
Ontology : AmiGO###############################################################################################################################################################################################################################################################                        
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                        
NDEx NetworkL3MBTL3
Atlas of Cancer Signalling NetworkL3MBTL3
Wikipedia pathwaysL3MBTL3
Orthology - Evolution
OrthoDB84456
GeneTree (enSembl)ENSG00000198945
Phylogenetic Trees/Animal Genes : TreeFamL3MBTL3
HOVERGENQ96JM7
HOGENOMQ96JM7
Homologs : HomoloGeneL3MBTL3
Homology/Alignments : Family Browser (UCSC)L3MBTL3
Gene fusions - Rearrangements
Fusion : QuiverL3MBTL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerL3MBTL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)L3MBTL3
dbVarL3MBTL3
ClinVarL3MBTL3
1000_GenomesL3MBTL3 
Exome Variant ServerL3MBTL3
ExAC (Exome Aggregation Consortium)ENSG00000198945
GNOMAD BrowserENSG00000198945
Genetic variants : HAPMAP84456
Genomic Variants (DGV)L3MBTL3 [DGVbeta]
DECIPHERL3MBTL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisL3MBTL3 
Mutations
ICGC Data PortalL3MBTL3 
TCGA Data PortalL3MBTL3 
Broad Tumor PortalL3MBTL3
OASIS PortalL3MBTL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICL3MBTL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDL3MBTL3
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 L3MBTL3
DgiDB (Drug Gene Interaction Database)L3MBTL3
DoCM (Curated mutations)L3MBTL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)L3MBTL3 (select a term)
intoGenL3MBTL3
Cancer3DL3MBTL3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETL3MBTL3
MedgenL3MBTL3
Genetic Testing Registry L3MBTL3
NextProtQ96JM7 [Medical]
TSGene84456
GENETestsL3MBTL3
Target ValidationL3MBTL3
Huge Navigator L3MBTL3 [HugePedia]
snp3D : Map Gene to Disease84456
BioCentury BCIQL3MBTL3
ClinGenL3MBTL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84456
Chemical/Pharm GKB GenePA134943930
Clinical trialL3MBTL3
Miscellaneous
canSAR (ICR)L3MBTL3 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineL3MBTL3
EVEXL3MBTL3
GoPubMedL3MBTL3
iHOPL3MBTL3
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 : Fri Feb 23 18:23:30 CET 2018

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