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UHRF1BP1L (UHRF1 binding protein 1 like)

Identity

Alias_symbol (synonym)KIAA0701
Other aliasSHIP164
HGNC (Hugo) UHRF1BP1L
LocusID (NCBI) 23074
Atlas_Id 54752
Location 12q23.1  [Link to chromosome band 12q23]
Location_base_pair Starts at 100037085 and ends at 100142864 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)
PCBP2 (12q13.13) / UHRF1BP1L (12q23.1)UHRF1BP1L (12q23.1) / ANKS1B (12q23.1)UHRF1BP1L (12q23.1) / DENND1A (9q33.3)
UHRF1BP1L (12q23.1) / DEPDC4 (12q23.1)UHRF1BP1L (12q23.1) / PXK (3p14.3)UHRF1BP1L 12q23.1 / ANKS1B 12q23.1
UHRF1BP1L 12q23.1 / DENND1A 9q33.3UHRF1BP1L 12q23.1 / DEPDC4 12q23.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(9;12)(q33;q23) UHRF1BP1L/DENND1A
t(12;12)(q13;q23) PCBP2/UHRF1BP1L
UHRF1BP1L/ANKS1B (12q23)
UHRF1BP1L/DEPDC4 (12q23)


External links

Nomenclature
HGNC (Hugo)UHRF1BP1L   29102
Cards
Entrez_Gene (NCBI)UHRF1BP1L  23074  UHRF1 binding protein 1 like
AliasesSHIP164
GeneCards (Weizmann)UHRF1BP1L
Ensembl hg19 (Hinxton)ENSG00000111647 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111647 [Gene_View]  ENSG00000111647 [Sequence]  chr12:100037085-100142864 [Contig_View]  UHRF1BP1L [Vega]
ICGC DataPortalENSG00000111647
TCGA cBioPortalUHRF1BP1L
AceView (NCBI)UHRF1BP1L
Genatlas (Paris)UHRF1BP1L
WikiGenes23074
SOURCE (Princeton)UHRF1BP1L
Genetics Home Reference (NIH)UHRF1BP1L
Genomic and cartography
GoldenPath hg38 (UCSC)UHRF1BP1L  -     chr12:100037085-100142864 -  12q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UHRF1BP1L  -     12q23.1   [Description]    (hg19-Feb_2009)
EnsemblUHRF1BP1L - 12q23.1 [CytoView hg19]  UHRF1BP1L - 12q23.1 [CytoView hg38]
Mapping of homologs : NCBIUHRF1BP1L [Mapview hg19]  UHRF1BP1L [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB014601 AK026472 AK125813 AL136821 AL833850
RefSeq transcript (Entrez)NM_001006947 NM_015054
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UHRF1BP1L
Cluster EST : UnigeneHs.620701 [ NCBI ]
CGAP (NCI)Hs.620701
Alternative Splicing GalleryENSG00000111647
Gene ExpressionUHRF1BP1L [ NCBI-GEO ]   UHRF1BP1L [ EBI - ARRAY_EXPRESS ]   UHRF1BP1L [ SEEK ]   UHRF1BP1L [ MEM ]
Gene Expression Viewer (FireBrowse)UHRF1BP1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23074
GTEX Portal (Tissue expression)UHRF1BP1L
Human Protein AtlasENSG00000111647-UHRF1BP1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA0JNW5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA0JNW5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA0JNW5
Splice isoforms : SwissVarA0JNW5
PhosPhoSitePlusA0JNW5
Domains : Interpro (EBI)UHRF1BP1-like    VPS13_N   
Domain families : Pfam (Sanger)Chorein_N (PF12624)   
Domain families : Pfam (NCBI)pfam12624   
Conserved Domain (NCBI)UHRF1BP1L
DMDM Disease mutations23074
Blocks (Seattle)UHRF1BP1L
SuperfamilyA0JNW5
Human Protein Atlas [tissue]ENSG00000111647-UHRF1BP1L [tissue]
Peptide AtlasA0JNW5
HPRD13811
IPIIPI00479669   IPI00157895   IPI01021411   IPI01021562   IPI01021740   IPI01021926   IPI01020795   IPI01020963   IPI01013356   
Protein Interaction databases
DIP (DOE-UCLA)A0JNW5
IntAct (EBI)A0JNW5
FunCoupENSG00000111647
BioGRIDUHRF1BP1L
STRING (EMBL)UHRF1BP1L
ZODIACUHRF1BP1L
Ontologies - Pathways
QuickGOA0JNW5
Ontology : AmiGOprotein binding  early endosome  cytosol  protein homodimerization activity  protein-containing complex binding  
Ontology : EGO-EBIprotein binding  early endosome  cytosol  protein homodimerization activity  protein-containing complex binding  
NDEx NetworkUHRF1BP1L
Atlas of Cancer Signalling NetworkUHRF1BP1L
Wikipedia pathwaysUHRF1BP1L
Orthology - Evolution
OrthoDB23074
GeneTree (enSembl)ENSG00000111647
Phylogenetic Trees/Animal Genes : TreeFamUHRF1BP1L
HOVERGENA0JNW5
HOGENOMA0JNW5
Homologs : HomoloGeneUHRF1BP1L
Homology/Alignments : Family Browser (UCSC)UHRF1BP1L
Gene fusions - Rearrangements
Fusion : MitelmanPCBP2/UHRF1BP1L [12q13.13/12q23.1]  [t(12;12)(q13;q23)]  
Fusion : MitelmanUHRF1BP1L/ANKS1B [12q23.1/12q23.1]  [t(12;12)(q23;q23)]  
Fusion : MitelmanUHRF1BP1L/DENND1A [12q23.1/9q33.3]  [t(9;12)(q33;q23)]  
Fusion : MitelmanUHRF1BP1L/DEPDC4 [12q23.1/12q23.1]  [t(12;12)(q23;q23)]  
Fusion PortalUHRF1BP1L 12q23.1 ANKS1B 12q23.1 LUSC
Fusion PortalUHRF1BP1L 12q23.1 DENND1A 9q33.3 BRCA
Fusion PortalUHRF1BP1L 12q23.1 DEPDC4 12q23.1 BRCA
Fusion : QuiverUHRF1BP1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUHRF1BP1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UHRF1BP1L
dbVarUHRF1BP1L
ClinVarUHRF1BP1L
1000_GenomesUHRF1BP1L 
Exome Variant ServerUHRF1BP1L
ExAC (Exome Aggregation Consortium)ENSG00000111647
GNOMAD BrowserENSG00000111647
Varsome BrowserUHRF1BP1L
Genetic variants : HAPMAP23074
Genomic Variants (DGV)UHRF1BP1L [DGVbeta]
DECIPHERUHRF1BP1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUHRF1BP1L 
Mutations
ICGC Data PortalUHRF1BP1L 
TCGA Data PortalUHRF1BP1L 
Broad Tumor PortalUHRF1BP1L
OASIS PortalUHRF1BP1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUHRF1BP1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUHRF1BP1L
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 UHRF1BP1L
DgiDB (Drug Gene Interaction Database)UHRF1BP1L
DoCM (Curated mutations)UHRF1BP1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UHRF1BP1L (select a term)
intoGenUHRF1BP1L
Cancer3DUHRF1BP1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETUHRF1BP1L
MedgenUHRF1BP1L
Genetic Testing Registry UHRF1BP1L
NextProtA0JNW5 [Medical]
TSGene23074
GENETestsUHRF1BP1L
Target ValidationUHRF1BP1L
Huge Navigator UHRF1BP1L [HugePedia]
snp3D : Map Gene to Disease23074
BioCentury BCIQUHRF1BP1L
ClinGenUHRF1BP1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23074
Chemical/Pharm GKB GenePA162408577
Clinical trialUHRF1BP1L
Miscellaneous
canSAR (ICR)UHRF1BP1L (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUHRF1BP1L
EVEXUHRF1BP1L
GoPubMedUHRF1BP1L
iHOPUHRF1BP1L
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 6 11:48:36 CET 2018

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