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USHBP1 (Usher syndrome 1C binding protein 1)

Identity

Alias_namesUsher syndrome 1C binding protein 1
Alias_symbol (synonym)MCC2
AIEBP
FLJ38709
Other alias
HGNC (Hugo) USHBP1
LocusID (NCBI) 83878
Atlas_Id 75519
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17360830 and ends at 17375605 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NR2F6 (19p13.11) / USHBP1 (19p13.11)

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)USHBP1   24058
Cards
Entrez_Gene (NCBI)USHBP1  83878  Usher syndrome 1C binding protein 1
AliasesAIEBP; MCC2
GeneCards (Weizmann)USHBP1
Ensembl hg19 (Hinxton)ENSG00000130307 [Gene_View]  chr19:17360830-17375605 [Contig_View]  USHBP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130307 [Gene_View]  chr19:17360830-17375605 [Contig_View]  USHBP1 [Vega]
ICGC DataPortalENSG00000130307
TCGA cBioPortalUSHBP1
AceView (NCBI)USHBP1
Genatlas (Paris)USHBP1
WikiGenes83878
SOURCE (Princeton)USHBP1
Genetics Home Reference (NIH)USHBP1
Genomic and cartography
GoldenPath hg19 (UCSC)USHBP1  -     chr19:17360830-17375605 -  19p13.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)USHBP1  -     19p13.11   [Description]    (hg38-Dec_2013)
EnsemblUSHBP1 - 19p13.11 [CytoView hg19]  USHBP1 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIUSHBP1 [Mapview hg19]  USHBP1 [Mapview hg38]
OMIM611810   
Gene and transcription
Genbank (Entrez)AA551913 AB026290 AB040046 AK075162 AK096028
RefSeq transcript (Entrez)NM_001297703 NM_031941
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)USHBP1
Cluster EST : UnigeneHs.512773 [ NCBI ]
CGAP (NCI)Hs.512773
Alternative Splicing GalleryENSG00000130307
Gene ExpressionUSHBP1 [ NCBI-GEO ]   USHBP1 [ EBI - ARRAY_EXPRESS ]   USHBP1 [ SEEK ]   USHBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)USHBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83878
GTEX Portal (Tissue expression)USHBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N6Y0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N6Y0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N6Y0
Splice isoforms : SwissVarQ8N6Y0
PhosPhoSitePlusQ8N6Y0
Domains : Interpro (EBI)USH1C-bd_PDZ_domain   
Domain families : Pfam (Sanger)MCC-bdg_PDZ (PF10506)   
Domain families : Pfam (NCBI)pfam10506   
Conserved Domain (NCBI)USHBP1
DMDM Disease mutations83878
Blocks (Seattle)USHBP1
SuperfamilyQ8N6Y0
Human Protein AtlasENSG00000130307
Peptide AtlasQ8N6Y0
HPRD18276
IPIIPI00297559   IPI00939377   IPI00171205   
Protein Interaction databases
DIP (DOE-UCLA)Q8N6Y0
IntAct (EBI)Q8N6Y0
FunCoupENSG00000130307
BioGRIDUSHBP1
STRING (EMBL)USHBP1
ZODIACUSHBP1
Ontologies - Pathways
QuickGOQ8N6Y0
Ontology : AmiGOprotein binding  PDZ domain binding  
Ontology : EGO-EBIprotein binding  PDZ domain binding  
NDEx NetworkUSHBP1
Atlas of Cancer Signalling NetworkUSHBP1
Wikipedia pathwaysUSHBP1
Orthology - Evolution
OrthoDB83878
GeneTree (enSembl)ENSG00000130307
Phylogenetic Trees/Animal Genes : TreeFamUSHBP1
HOVERGENQ8N6Y0
HOGENOMQ8N6Y0
Homologs : HomoloGeneUSHBP1
Homology/Alignments : Family Browser (UCSC)USHBP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUSHBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USHBP1
dbVarUSHBP1
ClinVarUSHBP1
1000_GenomesUSHBP1 
Exome Variant ServerUSHBP1
ExAC (Exome Aggregation Consortium)USHBP1 (select the gene name)
Genetic variants : HAPMAP83878
Genomic Variants (DGV)USHBP1 [DGVbeta]
DECIPHER (Syndromes)19:17360830-17375605  ENSG00000130307
CONAN: Copy Number AnalysisUSHBP1 
Mutations
ICGC Data PortalUSHBP1 
TCGA Data PortalUSHBP1 
Broad Tumor PortalUSHBP1
OASIS PortalUSHBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSHBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUSHBP1
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 USHBP1
DgiDB (Drug Gene Interaction Database)USHBP1
DoCM (Curated mutations)USHBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USHBP1 (select a term)
intoGenUSHBP1
Cancer3DUSHBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611810   
Orphanet
MedgenUSHBP1
Genetic Testing Registry USHBP1
NextProtQ8N6Y0 [Medical]
TSGene83878
GENETestsUSHBP1
Huge Navigator USHBP1 [HugePedia]
snp3D : Map Gene to Disease83878
BioCentury BCIQUSHBP1
ClinGenUSHBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83878
Chemical/Pharm GKB GenePA134909077
Clinical trialUSHBP1
Miscellaneous
canSAR (ICR)USHBP1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSHBP1
EVEXUSHBP1
GoPubMedUSHBP1
iHOPUSHBP1
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 12:50:56 CET 2017

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