Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RFFL (ring finger and FYVE-like domain containing E3 ubiquitin protein ligase)

Identity

Alias_namesring finger and FYVE-like domain containing
Alias_symbol (synonym)rififylin
fring
RNF189
RNF34L
CARP2
CARP-2
Other aliasFRING
RIFIFYLIN
HGNC (Hugo) RFFL
LocusID (NCBI) 117584
Atlas_Id 53751
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 33336131 and ends at 33390759 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
IPO11 (5q12.1) / RFFL (17q12)RFFL (17q12) / FLNA (Xq28)RFFL (17q12) / RFFL (17q12)

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)RFFL   24821
Cards
Entrez_Gene (NCBI)RFFL  117584  ring finger and FYVE-like domain containing E3 ubiquitin protein ligase
AliasesCARP-2; CARP2; FRING; RIFIFYLIN; 
RNF189; RNF34L
GeneCards (Weizmann)RFFL
Ensembl hg19 (Hinxton)ENSG00000092871 [Gene_View]  chr17:33336131-33390759 [Contig_View]  RFFL [Vega]
Ensembl hg38 (Hinxton)ENSG00000092871 [Gene_View]  chr17:33336131-33390759 [Contig_View]  RFFL [Vega]
ICGC DataPortalENSG00000092871
TCGA cBioPortalRFFL
AceView (NCBI)RFFL
Genatlas (Paris)RFFL
WikiGenes117584
SOURCE (Princeton)RFFL
Genetics Home Reference (NIH)RFFL
Genomic and cartography
GoldenPath hg19 (UCSC)RFFL  -     chr17:33336131-33390759 -  17q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RFFL  -     17q12   [Description]    (hg38-Dec_2013)
EnsemblRFFL - 17q12 [CytoView hg19]  RFFL - 17q12 [CytoView hg38]
Mapping of homologs : NCBIRFFL [Mapview hg19]  RFFL [Mapview hg38]
OMIM609735   
Gene and transcription
Genbank (Entrez)AF434816 AK093112 AK308689 AY098935 BC015681
RefSeq transcript (Entrez)NM_001017368 NM_057178
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)RFFL
Cluster EST : UnigeneHs.13680 [ NCBI ]
CGAP (NCI)Hs.13680
Alternative Splicing GalleryENSG00000092871
Gene ExpressionRFFL [ NCBI-GEO ]   RFFL [ EBI - ARRAY_EXPRESS ]   RFFL [ SEEK ]   RFFL [ MEM ]
Gene Expression Viewer (FireBrowse)RFFL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117584
GTEX Portal (Tissue expression)RFFL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZ73   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WZ73  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WZ73
Splice isoforms : SwissVarQ8WZ73
PhosPhoSitePlusQ8WZ73
Domaine pattern : Prosite (Expaxy)ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Znf_FYVE_PHD    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RING (SM00184)  
Conserved Domain (NCBI)RFFL
DMDM Disease mutations117584
Blocks (Seattle)RFFL
PDB (SRS)1Y02   
PDB (PDBSum)1Y02   
PDB (IMB)1Y02   
PDB (RSDB)1Y02   
Structural Biology KnowledgeBase1Y02   
SCOP (Structural Classification of Proteins)1Y02   
CATH (Classification of proteins structures)1Y02   
SuperfamilyQ8WZ73
Human Protein AtlasENSG00000092871
Peptide AtlasQ8WZ73
HPRD11489
IPIIPI00103867   IPI00651650   IPI00290939   IPI00788704   IPI00789894   
Protein Interaction databases
DIP (DOE-UCLA)Q8WZ73
IntAct (EBI)Q8WZ73
FunCoupENSG00000092871
BioGRIDRFFL
STRING (EMBL)RFFL
ZODIACRFFL
Ontologies - Pathways
QuickGOQ8WZ73
Ontology : AmiGOGolgi membrane  protease binding  p53 binding  tumor necrosis factor receptor superfamily complex  protein binding  nucleoplasm  cytoplasm  lysosome  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  zinc ion binding  endosome membrane  regulation of fibroblast migration  negative regulation of tumor necrosis factor-mediated signaling pathway  membrane  ligase activity  protein kinase binding  ubiquitin protein ligase binding  regulation of TOR signaling  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  recycling endosome membrane  ubiquitin protein ligase activity  ubiquitin protein ligase activity  protein K48-linked ubiquitination  negative regulation of signal transduction by p53 class mediator  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis  
Ontology : EGO-EBIGolgi membrane  protease binding  p53 binding  tumor necrosis factor receptor superfamily complex  protein binding  nucleoplasm  cytoplasm  lysosome  cytosol  plasma membrane  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  zinc ion binding  endosome membrane  regulation of fibroblast migration  negative regulation of tumor necrosis factor-mediated signaling pathway  membrane  ligase activity  protein kinase binding  ubiquitin protein ligase binding  regulation of TOR signaling  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  recycling endosome membrane  ubiquitin protein ligase activity  ubiquitin protein ligase activity  protein K48-linked ubiquitination  negative regulation of signal transduction by p53 class mediator  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis  
NDEx NetworkRFFL
Atlas of Cancer Signalling NetworkRFFL
Wikipedia pathwaysRFFL
Orthology - Evolution
OrthoDB117584
GeneTree (enSembl)ENSG00000092871
Phylogenetic Trees/Animal Genes : TreeFamRFFL
HOVERGENQ8WZ73
HOGENOMQ8WZ73
Homologs : HomoloGeneRFFL
Homology/Alignments : Family Browser (UCSC)RFFL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRFFL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RFFL
dbVarRFFL
ClinVarRFFL
1000_GenomesRFFL 
Exome Variant ServerRFFL
ExAC (Exome Aggregation Consortium)RFFL (select the gene name)
Genetic variants : HAPMAP117584
Genomic Variants (DGV)RFFL [DGVbeta]
DECIPHER (Syndromes)17:33336131-33390759  ENSG00000092871
CONAN: Copy Number AnalysisRFFL 
Mutations
ICGC Data PortalRFFL 
TCGA Data PortalRFFL 
Broad Tumor PortalRFFL
OASIS PortalRFFL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRFFL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRFFL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RFFL
DgiDB (Drug Gene Interaction Database)RFFL
DoCM (Curated mutations)RFFL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RFFL (select a term)
intoGenRFFL
Cancer3DRFFL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609735   
Orphanet
MedgenRFFL
Genetic Testing Registry RFFL
NextProtQ8WZ73 [Medical]
TSGene117584
GENETestsRFFL
Huge Navigator RFFL [HugePedia]
snp3D : Map Gene to Disease117584
BioCentury BCIQRFFL
ClinGenRFFL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117584
Chemical/Pharm GKB GenePA142671086
Clinical trialRFFL
Miscellaneous
canSAR (ICR)RFFL (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRFFL
EVEXRFFL
GoPubMedRFFL
iHOPRFFL
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 : Thu Mar 30 15:17:16 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.