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MUM1 (melanoma associated antigen (mutated) 1)

Identity

Alias_symbol (synonym)MUM-1
EXPAND1
Other aliasHSPC211
HGNC (Hugo) MUM1
LocusID (NCBI) 84939
Atlas_Id 41462
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 1354976 and ends at 1378430 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AP3D1 (19p13.3) / MUM1 (19p13.3)EEA1 (12q22) / MUM1 (19p13.3)MUM1 (19p13.3) / MUM1 (19p13.3)
SH3GL1 (19p13.3) / MUM1 (19p13.3)TP73-AS1 (1p36.32) / MUM1 (19p13.3)AP3D1 19p13.3 / MUM1 19p13.3
SH3GL1 19p13.3 / MUM1 19p13.3

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

 


External links

Nomenclature
HGNC (Hugo)MUM1   29641
Cards
Entrez_Gene (NCBI)MUM1  84939  melanoma associated antigen (mutated) 1
AliasesEXPAND1; HSPC211; MUM-1
GeneCards (Weizmann)MUM1
Ensembl hg19 (Hinxton)ENSG00000160953 [Gene_View]  chr19:1354976-1378430 [Contig_View]  MUM1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160953 [Gene_View]  chr19:1354976-1378430 [Contig_View]  MUM1 [Vega]
ICGC DataPortalENSG00000160953
TCGA cBioPortalMUM1
AceView (NCBI)MUM1
Genatlas (Paris)MUM1
WikiGenes84939
SOURCE (Princeton)MUM1
Genetics Home Reference (NIH)MUM1
Genomic and cartography
GoldenPath hg19 (UCSC)MUM1  -     chr19:1354976-1378430 +  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MUM1  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblMUM1 - 19p13.3 [CytoView hg19]  MUM1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIMUM1 [Mapview hg19]  MUM1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF151045 AK025936 AK027774 AK075241 AK309092
RefSeq transcript (Entrez)NM_032853
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)MUM1
Cluster EST : UnigeneHs.515016 [ NCBI ]
CGAP (NCI)Hs.515016
Alternative Splicing GalleryENSG00000160953
Gene ExpressionMUM1 [ NCBI-GEO ]   MUM1 [ EBI - ARRAY_EXPRESS ]   MUM1 [ SEEK ]   MUM1 [ MEM ]
Gene Expression Viewer (FireBrowse)MUM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84939
GTEX Portal (Tissue expression)MUM1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ2TAK8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ2TAK8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ2TAK8
Splice isoforms : SwissVarQ2TAK8
PhosPhoSitePlusQ2TAK8
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MUM1
DMDM Disease mutations84939
Blocks (Seattle)MUM1
PDB (SRS)3PMI   
PDB (PDBSum)3PMI   
PDB (IMB)3PMI   
PDB (RSDB)3PMI   
Structural Biology KnowledgeBase3PMI   
SCOP (Structural Classification of Proteins)3PMI   
CATH (Classification of proteins structures)3PMI   
SuperfamilyQ2TAK8
Human Protein AtlasENSG00000160953
Peptide AtlasQ2TAK8
HPRD14789
IPIIPI00479698   IPI00922531   IPI00384525   IPI00011840   IPI00383594   
Protein Interaction databases
DIP (DOE-UCLA)Q2TAK8
IntAct (EBI)Q2TAK8
FunCoupENSG00000160953
BioGRIDMUM1
STRING (EMBL)MUM1
ZODIACMUM1
Ontologies - Pathways
QuickGOQ2TAK8
Ontology : AmiGOprotein binding  nucleus  cytoplasm  DNA repair  chromatin organization  nucleosome binding  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  DNA repair  chromatin organization  nucleosome binding  
NDEx NetworkMUM1
Atlas of Cancer Signalling NetworkMUM1
Wikipedia pathwaysMUM1
Orthology - Evolution
OrthoDB84939
GeneTree (enSembl)ENSG00000160953
Phylogenetic Trees/Animal Genes : TreeFamMUM1
HOVERGENQ2TAK8
HOGENOMQ2TAK8
Homologs : HomoloGeneMUM1
Homology/Alignments : Family Browser (UCSC)MUM1
Gene fusions - Rearrangements
Fusion : MitelmanAP3D1/MUM1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSH3GL1/MUM1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion: TCGAAP3D1 19p13.3 MUM1 19p13.3 LUAD
Fusion: TCGASH3GL1 19p13.3 MUM1 19p13.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMUM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUM1
dbVarMUM1
ClinVarMUM1
1000_GenomesMUM1 
Exome Variant ServerMUM1
ExAC (Exome Aggregation Consortium)MUM1 (select the gene name)
Genetic variants : HAPMAP84939
Genomic Variants (DGV)MUM1 [DGVbeta]
DECIPHER (Syndromes)19:1354976-1378430  ENSG00000160953
CONAN: Copy Number AnalysisMUM1 
Mutations
ICGC Data PortalMUM1 
TCGA Data PortalMUM1 
Broad Tumor PortalMUM1
OASIS PortalMUM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMUM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMUM1
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 MUM1
DgiDB (Drug Gene Interaction Database)MUM1
DoCM (Curated mutations)MUM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MUM1 (select a term)
intoGenMUM1
Cancer3DMUM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenMUM1
Genetic Testing Registry MUM1
NextProtQ2TAK8 [Medical]
TSGene84939
GENETestsMUM1
Huge Navigator MUM1 [HugePedia]
snp3D : Map Gene to Disease84939
BioCentury BCIQMUM1
ClinGenMUM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84939
Chemical/Pharm GKB GenePA164742142
Clinical trialMUM1
Miscellaneous
canSAR (ICR)MUM1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMUM1
EVEXMUM1
GoPubMedMUM1
iHOPMUM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:17:43 CET 2017

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