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UIMC1 (ubiquitin interaction motif containing 1)

Identity

Alias_symbol (synonym)RAP80
Other aliasX2HRIP110
HGNC (Hugo) UIMC1
LocusID (NCBI) 51720
Atlas_Id 47566
Location 5q35.2  [Link to chromosome band 5q35]
Location_base_pair Starts at 176905005 and ends at 177006794 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)
LOC100507412 (-) / UIMC1 (5q35.2)TXNRD1 (12q23.3) / UIMC1 (5q35.2)UIMC1 (5q35.2) / MALAT1 (11q13.1)
UIMC1 (5q35.2) / NSD1 (5q35.2)UIMC1 (5q35.2) / PMM2 (16p13.2)UIMC1 (5q35.2) / PTPRO (12p12.3)
UIMC1 5q35.2 / PMM2 16p13.2UIMC1 5q35.2 / PTPRO 12p12.3

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)UIMC1   30298
Cards
Entrez_Gene (NCBI)UIMC1  51720  ubiquitin interaction motif containing 1
AliasesRAP80; X2HRIP110
GeneCards (Weizmann)UIMC1
Ensembl hg19 (Hinxton)ENSG00000087206 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087206 [Gene_View]  chr5:176905005-177006794 [Contig_View]  UIMC1 [Vega]
ICGC DataPortalENSG00000087206
TCGA cBioPortalUIMC1
AceView (NCBI)UIMC1
Genatlas (Paris)UIMC1
WikiGenes51720
SOURCE (Princeton)UIMC1
Genetics Home Reference (NIH)UIMC1
Genomic and cartography
GoldenPath hg38 (UCSC)UIMC1  -     chr5:176905005-177006794 -  5q35.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UIMC1  -     5q35.2   [Description]    (hg19-Feb_2009)
EnsemblUIMC1 - 5q35.2 [CytoView hg19]  UIMC1 - 5q35.2 [CytoView hg38]
Mapping of homologs : NCBIUIMC1 [Mapview hg19]  UIMC1 [Mapview hg38]
OMIM609433   
Gene and transcription
Genbank (Entrez)AF113538 AF349313 AK023044 AK304794 AL137375
RefSeq transcript (Entrez)NM_001199297 NM_001199298 NM_001317961 NM_016290
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UIMC1
Cluster EST : UnigeneHs.232721 [ NCBI ]
CGAP (NCI)Hs.232721
Alternative Splicing GalleryENSG00000087206
Gene ExpressionUIMC1 [ NCBI-GEO ]   UIMC1 [ EBI - ARRAY_EXPRESS ]   UIMC1 [ SEEK ]   UIMC1 [ MEM ]
Gene Expression Viewer (FireBrowse)UIMC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51720
GTEX Portal (Tissue expression)UIMC1
Human Protein AtlasENSG00000087206-UIMC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RL1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RL1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RL1
Splice isoforms : SwissVarQ96RL1
PhosPhoSitePlusQ96RL1
Domaine pattern : Prosite (Expaxy)UIM (PS50330)   
Domains : Interpro (EBI)UIM_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)UIM (SM00726)  
Conserved Domain (NCBI)UIMC1
DMDM Disease mutations51720
Blocks (Seattle)UIMC1
PDB (SRS)2MKF    2MKG    2N9E    2RR9   
PDB (PDBSum)2MKF    2MKG    2N9E    2RR9   
PDB (IMB)2MKF    2MKG    2N9E    2RR9   
PDB (RSDB)2MKF    2MKG    2N9E    2RR9   
Structural Biology KnowledgeBase2MKF    2MKG    2N9E    2RR9   
SCOP (Structural Classification of Proteins)2MKF    2MKG    2N9E    2RR9   
CATH (Classification of proteins structures)2MKF    2MKG    2N9E    2RR9   
SuperfamilyQ96RL1
Human Protein Atlas [tissue]ENSG00000087206-UIMC1 [tissue]
Peptide AtlasQ96RL1
HPRD11482
IPIIPI00396071   IPI00552059   IPI00910121   IPI00872390   IPI00384342   IPI00743129   IPI00328521   IPI00968039   IPI00967980   IPI00969079   IPI00968234   IPI00967719   
Protein Interaction databases
DIP (DOE-UCLA)Q96RL1
IntAct (EBI)Q96RL1
FunCoupENSG00000087206
BioGRIDUIMC1
STRING (EMBL)UIMC1
ZODIACUIMC1
Ontologies - Pathways
QuickGOQ96RL1
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  double-strand break repair  double-strand break repair via nonhomologous end joining  transcription, DNA-templated  response to ionizing radiation  protein deubiquitination  nuclear body  G2 DNA damage checkpoint  histone binding  positive regulation of DNA repair  negative regulation of transcription, DNA-templated  K63-linked polyubiquitin binding  BRCA1-A complex  histone H2A K63-linked deubiquitination  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  double-strand break repair  double-strand break repair via nonhomologous end joining  transcription, DNA-templated  response to ionizing radiation  protein deubiquitination  nuclear body  G2 DNA damage checkpoint  histone binding  positive regulation of DNA repair  negative regulation of transcription, DNA-templated  K63-linked polyubiquitin binding  BRCA1-A complex  histone H2A K63-linked deubiquitination  
NDEx NetworkUIMC1
Atlas of Cancer Signalling NetworkUIMC1
Wikipedia pathwaysUIMC1
Orthology - Evolution
OrthoDB51720
GeneTree (enSembl)ENSG00000087206
Phylogenetic Trees/Animal Genes : TreeFamUIMC1
HOVERGENQ96RL1
HOGENOMQ96RL1
Homologs : HomoloGeneUIMC1
Homology/Alignments : Family Browser (UCSC)UIMC1
Gene fusions - Rearrangements
Fusion : MitelmanUIMC1/PMM2 [5q35.2/16p13.2]  
Fusion : MitelmanUIMC1/PTPRO [5q35.2/12p12.3]  [t(5;12)(q35;p12)]  
Fusion: TCGA_MDACCUIMC1 5q35.2 PMM2 16p13.2 BRCA
Fusion: TCGA_MDACCUIMC1 5q35.2 PTPRO 12p12.3 BRCA
Tumor Fusion PortalUIMC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUIMC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UIMC1
dbVarUIMC1
ClinVarUIMC1
1000_GenomesUIMC1 
Exome Variant ServerUIMC1
ExAC (Exome Aggregation Consortium)ENSG00000087206
GNOMAD BrowserENSG00000087206
Genetic variants : HAPMAP51720
Genomic Variants (DGV)UIMC1 [DGVbeta]
DECIPHERUIMC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUIMC1 
Mutations
ICGC Data PortalUIMC1 
TCGA Data PortalUIMC1 
Broad Tumor PortalUIMC1
OASIS PortalUIMC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUIMC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUIMC1
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 UIMC1
DgiDB (Drug Gene Interaction Database)UIMC1
DoCM (Curated mutations)UIMC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UIMC1 (select a term)
intoGenUIMC1
Cancer3DUIMC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609433   
Orphanet
DisGeNETUIMC1
MedgenUIMC1
Genetic Testing Registry UIMC1
NextProtQ96RL1 [Medical]
TSGene51720
GENETestsUIMC1
Target ValidationUIMC1
Huge Navigator UIMC1 [HugePedia]
snp3D : Map Gene to Disease51720
BioCentury BCIQUIMC1
ClinGenUIMC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51720
Chemical/Pharm GKB GenePA162408624
Clinical trialUIMC1
Miscellaneous
canSAR (ICR)UIMC1 (select the gene name)
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUIMC1
EVEXUIMC1
GoPubMedUIMC1
iHOPUIMC1
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 14:40:48 CET 2017

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