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MAML3 (mastermind like transcriptional coactivator 3)

Identity

Alias_namesTNRC3
trinucleotide repeat containing 3
mastermind-like 3 (Drosophila)
Alias_symbol (synonym)KIAA1816
MAM2
CAGH3
GDN
Other aliasERDA3
MAM-2
mam-3
HGNC (Hugo) MAML3
LocusID (NCBI) 55534
Atlas_Id 55830
Location 4q31.1  [Link to chromosome band 4q31]
Location_base_pair Starts at 139716391 and ends at 140154079 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)
MAML3 (4q31.1) / ARHGAP10 (4q31.23)MAML3 (4q31.1) / CLGN (4q31.1)MAML3 (4q31.1) / FADS3 (11q12.2)
MAML3 (4q31.1) / MAML3 (4q31.1)MAML3 (4q31.1) / POU3F2 (6q16.1)MAML3 (4q31.1) / SERPINE2 (2q36.1)
PAX3 (2q36.1) / MAML3 (4q31.1)

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(4;4)(q21;q31) MAML3/CCNG2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(2;4)(q36;q31) PAX3/MAML3
MAML3/CLGN (4q31)
t(4;17)(q31;q21) UBTF/MAML3
t(4;18)(q31;q21) TCF4/MAML3
t(X;4)(p11;q31) BCOR/MAML3
t(X;4)(p11;q31) BCOR/MAML3

External links

Nomenclature
HGNC (Hugo)MAML3   16272
Cards
Entrez_Gene (NCBI)MAML3  55534  mastermind like transcriptional coactivator 3
AliasesCAGH3; ERDA3; GDN; MAM-2; 
MAM2; TNRC3; mam-3
GeneCards (Weizmann)MAML3
Ensembl hg19 (Hinxton)ENSG00000196782 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196782 [Gene_View]  ENSG00000196782 [Sequence]  chr4:139716391-140154079 [Contig_View]  MAML3 [Vega]
ICGC DataPortalENSG00000196782
TCGA cBioPortalMAML3
AceView (NCBI)MAML3
Genatlas (Paris)MAML3
WikiGenes55534
SOURCE (Princeton)MAML3
Genetics Home Reference (NIH)MAML3
Genomic and cartography
GoldenPath hg38 (UCSC)MAML3  -     chr4:139716391-140154079 -  4q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAML3  -     4q31.1   [Description]    (hg19-Feb_2009)
EnsemblMAML3 - 4q31.1 [CytoView hg19]  MAML3 - 4q31.1 [CytoView hg38]
Mapping of homologs : NCBIMAML3 [Mapview hg19]  MAML3 [Mapview hg38]
OMIM608991   
Gene and transcription
Genbank (Entrez)AA236382 AK123604 AK296891 AL359614 AW136739
RefSeq transcript (Entrez)NM_018717
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAML3
Cluster EST : UnigeneHs.586165 [ NCBI ]
CGAP (NCI)Hs.586165
Alternative Splicing GalleryENSG00000196782
Gene ExpressionMAML3 [ NCBI-GEO ]   MAML3 [ EBI - ARRAY_EXPRESS ]   MAML3 [ SEEK ]   MAML3 [ MEM ]
Gene Expression Viewer (FireBrowse)MAML3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55534
GTEX Portal (Tissue expression)MAML3
Human Protein AtlasENSG00000196782-MAML3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JK9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JK9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JK9
Splice isoforms : SwissVarQ96JK9
PhosPhoSitePlusQ96JK9
Domains : Interpro (EBI)Neuroggenic_mastermind-like_N   
Domain families : Pfam (Sanger)MamL-1 (PF09596)   
Domain families : Pfam (NCBI)pfam09596   
Domain families : Smart (EMBL)MamL-1 (SM01275)  
Conserved Domain (NCBI)MAML3
DMDM Disease mutations55534
Blocks (Seattle)MAML3
SuperfamilyQ96JK9
Human Protein Atlas [tissue]ENSG00000196782-MAML3 [tissue]
Peptide AtlasQ96JK9
HPRD10066
IPIIPI00966404   IPI00382621   IPI00953276   IPI00965570   
Protein Interaction databases
DIP (DOE-UCLA)Q96JK9
IntAct (EBI)Q96JK9
FunCoupENSG00000196782
BioGRIDMAML3
STRING (EMBL)MAML3
ZODIACMAML3
Ontologies - Pathways
QuickGOQ96JK9
Ontology : AmiGOtranscription coactivator activity  transcription coactivator activity  nucleus  nucleoplasm  nucleoplasm  transcription initiation from RNA polymerase II promoter  Notch signaling pathway  Notch signaling pathway  positive regulation of transcription of Notch receptor target  positive regulation of transcription of Notch receptor target  nuclear speck  positive regulation of Notch signaling pathway  positive regulation of transcription by RNA polymerase II  
Ontology : EGO-EBItranscription coactivator activity  transcription coactivator activity  nucleus  nucleoplasm  nucleoplasm  transcription initiation from RNA polymerase II promoter  Notch signaling pathway  Notch signaling pathway  positive regulation of transcription of Notch receptor target  positive regulation of transcription of Notch receptor target  nuclear speck  positive regulation of Notch signaling pathway  positive regulation of transcription by RNA polymerase II  
Pathways : KEGGNotch signaling pathway   
NDEx NetworkMAML3
Atlas of Cancer Signalling NetworkMAML3
Wikipedia pathwaysMAML3
Orthology - Evolution
OrthoDB55534
GeneTree (enSembl)ENSG00000196782
Phylogenetic Trees/Animal Genes : TreeFamMAML3
HOVERGENQ96JK9
HOGENOMQ96JK9
Homologs : HomoloGeneMAML3
Homology/Alignments : Family Browser (UCSC)MAML3
Gene fusions - Rearrangements
Fusion : QuiverMAML3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAML3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAML3
dbVarMAML3
ClinVarMAML3
1000_GenomesMAML3 
Exome Variant ServerMAML3
ExAC (Exome Aggregation Consortium)ENSG00000196782
GNOMAD BrowserENSG00000196782
Varsome BrowserMAML3
Genetic variants : HAPMAP55534
Genomic Variants (DGV)MAML3 [DGVbeta]
DECIPHERMAML3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAML3 
Mutations
ICGC Data PortalMAML3 
TCGA Data PortalMAML3 
Broad Tumor PortalMAML3
OASIS PortalMAML3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAML3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAML3
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 MAML3
DgiDB (Drug Gene Interaction Database)MAML3
DoCM (Curated mutations)MAML3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAML3 (select a term)
intoGenMAML3
Cancer3DMAML3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608991   
Orphanet
DisGeNETMAML3
MedgenMAML3
Genetic Testing Registry MAML3
NextProtQ96JK9 [Medical]
TSGene55534
GENETestsMAML3
Target ValidationMAML3
Huge Navigator MAML3 [HugePedia]
snp3D : Map Gene to Disease55534
BioCentury BCIQMAML3
ClinGenMAML3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55534
Chemical/Pharm GKB GenePA134953776
Clinical trialMAML3
Miscellaneous
canSAR (ICR)MAML3 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAML3
EVEXMAML3
GoPubMedMAML3
iHOPMAML3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:18:38 CET 2018
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