Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RUFY1 (RUN and FYVE domain containing 1)

Identity

Alias_symbol (synonym)FLJ22251
ZFYVE12
RABIP4
Other alias
HGNC (Hugo) RUFY1
LocusID (NCBI) 80230
Atlas_Id 57849
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 179550561 and ends at 179610026 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)
FOXP1 (3p13) / RUFY1 (5q35.3)LIMK2 (22q12.2) / RUFY1 (5q35.3)RRBP1 (20p12.1) / RUFY1 (5q35.3)
RUFY1 (5q35.3) / GLUL (1q25.3)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(3;5)(p13;q35) FOXP1/RUFY1
t(5;22)(q35;q12) LIMK2/RUFY1

External links

Nomenclature
HGNC (Hugo)RUFY1   19760
Cards
Entrez_Gene (NCBI)RUFY1  80230  RUN and FYVE domain containing 1
AliasesRABIP4; ZFYVE12
GeneCards (Weizmann)RUFY1
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr5:179550561-179610026 [Contig_View]  RUFY1 [Vega]
TCGA cBioPortalRUFY1
AceView (NCBI)RUFY1
Genatlas (Paris)RUFY1
WikiGenes80230
SOURCE (Princeton)RUFY1
Genetics Home Reference (NIH)RUFY1
Genomic and cartography
GoldenPath hg38 (UCSC)RUFY1  -     chr5:179550561-179610026 +  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RUFY1  -     5q35.3   [Description]    (hg19-Feb_2009)
GoldenPathRUFY1 - 5q35.3 [CytoView hg19]  RUFY1 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIRUFY1 [Mapview hg19]  RUFY1 [Mapview hg38]
OMIM610327   
Gene and transcription
Genbank (Entrez)AB209507 AF312367 AF361055 AK025904 AK075021
RefSeq transcript (Entrez)NM_001040451 NM_001040452 NM_025158
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RUFY1
Cluster EST : UnigeneHs.306769 [ NCBI ]
CGAP (NCI)Hs.306769
Gene ExpressionRUFY1 [ NCBI-GEO ]   RUFY1 [ EBI - ARRAY_EXPRESS ]   RUFY1 [ SEEK ]   RUFY1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUFY1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80230
GTEX Portal (Tissue expression)RUFY1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T51   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T51  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T51
Splice isoforms : SwissVarQ96T51
PhosPhoSitePlusQ96T51
Domaine pattern : Prosite (Expaxy)RUN (PS50826)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)Run_dom    Run_dom_sf    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)    RUN (PF02759)   
Domain families : Pfam (NCBI)pfam01363    pfam02759   
Domain families : Smart (EMBL)FYVE (SM00064)  RUN (SM00593)  
Conserved Domain (NCBI)RUFY1
DMDM Disease mutations80230
Blocks (Seattle)RUFY1
PDB (RSDB)2YQM    2YW8   
PDB Europe2YQM    2YW8   
PDB (PDBSum)2YQM    2YW8   
PDB (IMB)2YQM    2YW8   
Structural Biology KnowledgeBase2YQM    2YW8   
SCOP (Structural Classification of Proteins)2YQM    2YW8   
CATH (Classification of proteins structures)2YQM    2YW8   
SuperfamilyQ96T51
Peptide AtlasQ96T51
IPIIPI00744637   IPI00465429   IPI00556586   IPI00874125   IPI00964980   IPI00966686   IPI00965286   
Protein Interaction databases
DIP (DOE-UCLA)Q96T51
IntAct (EBI)Q96T51
BioGRIDRUFY1
STRING (EMBL)RUFY1
ZODIACRUFY1
Ontologies - Pathways
QuickGOQ96T51
Ontology : AmiGOprotein binding  nucleus  cytoplasm  endosome  cytosol  cytosol  phosphatidylinositol biosynthetic process  endocytosis  small GTPase mediated signal transduction  lipid binding  protein transport  nuclear speck  SH3 domain binding  regulation of endocytosis  regulation of endocytosis  early endosome membrane  SH2 domain binding  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  metal ion binding  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  endosome  cytosol  cytosol  phosphatidylinositol biosynthetic process  endocytosis  small GTPase mediated signal transduction  lipid binding  protein transport  nuclear speck  SH3 domain binding  regulation of endocytosis  regulation of endocytosis  early endosome membrane  SH2 domain binding  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  metal ion binding  
Pathways : KEGGEndocytosis   
NDEx NetworkRUFY1
Atlas of Cancer Signalling NetworkRUFY1
Wikipedia pathwaysRUFY1
Orthology - Evolution
OrthoDB80230
Phylogenetic Trees/Animal Genes : TreeFamRUFY1
HOGENOMQ96T51
Homologs : HomoloGeneRUFY1
Homology/Alignments : Family Browser (UCSC)RUFY1
Gene fusions - Rearrangements
Fusion : QuiverRUFY1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUFY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUFY1
dbVarRUFY1
ClinVarRUFY1
1000_GenomesRUFY1 
Exome Variant ServerRUFY1
Varsome BrowserRUFY1
Genetic variants : HAPMAP80230
Genomic Variants (DGV)RUFY1 [DGVbeta]
DECIPHERRUFY1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRUFY1 
Mutations
ICGC Data PortalRUFY1 
TCGA Data PortalRUFY1 
Broad Tumor PortalRUFY1
OASIS PortalRUFY1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRUFY1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRUFY1
Mutations and Diseases : HGMDRUFY1
BioMutasearch RUFY1
DgiDB (Drug Gene Interaction Database)RUFY1
DoCM (Curated mutations)RUFY1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RUFY1 (select a term)
intoGenRUFY1
Cancer3DRUFY1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610327   
Orphanet
DisGeNETRUFY1
MedgenRUFY1
Genetic Testing Registry RUFY1
NextProtQ96T51 [Medical]
TSGene80230
GENETestsRUFY1
Target ValidationRUFY1
Huge Navigator RUFY1 [HugePedia]
snp3D : Map Gene to Disease80230
BioCentury BCIQRUFY1
ClinGenRUFY1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80230
Chemical/Pharm GKB GenePA134944787
Clinical trialRUFY1
Miscellaneous
canSAR (ICR)RUFY1 (select the gene name)
DataMed IndexRUFY1
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRUFY1
EVEXRUFY1
GoPubMedRUFY1
iHOPRUFY1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:05:56 CET 2019
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