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RNF217 (ring finger protein 217)

Identity

Alias (NCBI)C6orf172
IBRDC1
OSTL
dJ84N20.1
HGNC (Hugo) RNF217
HGNC Alias symbMGC26996
dJ84N20.1
HGNC Previous nameC6orf172
 IBRDC1
HGNC Previous namechromosome 6 open reading frame 172
 IBR domain containing 1
LocusID (NCBI) 154214
Atlas_Id 55518
Location 6q22.31  [Link to chromosome band 6q22]
Location_base_pair Starts at 124983368 and ends at 125092631 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)
ETV6 (12p13.2)::RNF217 (6q22.31)NKAIN2 (6q22.31)::RNF217 (6q22.31)RNF217 (6q22.31)::MRPS27 (5q13.2)
RNF217 (6q22.31)::PRDM1 (6q21)TRMT11 (6q22.32)::RNF217 (6q22.31)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;12)(q22;p13) ETV6::RNF217


External links

 

Nomenclature
HGNC (Hugo)RNF217   21487
Cards
Entrez_Gene (NCBI)RNF217    ring finger protein 217
AliasesC6orf172; IBRDC1; OSTL; dJ84N20.1
GeneCards (Weizmann)RNF217
Ensembl hg19 (Hinxton)ENSG00000146373 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146373 [Gene_View]  ENSG00000146373 [Sequence]  chr6:124983368-125092631 [Contig_View]  RNF217 [Vega]
ICGC DataPortalENSG00000146373
TCGA cBioPortalRNF217
AceView (NCBI)RNF217
Genatlas (Paris)RNF217
SOURCE (Princeton)RNF217
Genetics Home Reference (NIH)RNF217
Genomic and cartography
GoldenPath hg38 (UCSC)RNF217  -     chr6:124983368-125092631 +  6q22.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RNF217  -     6q22.31   [Description]    (hg19-Feb_2009)
GoldenPathRNF217 - 6q22.31 [CytoView hg19]  RNF217 - 6q22.31 [CytoView hg38]
ImmunoBaseENSG00000146373
Genome Data Viewer NCBIRNF217 [Mapview hg19]  
OMIM618592   
Gene and transcription
Genbank (Entrez)AA782081 AK023584 AK057943 AK093417 AK122811
RefSeq transcript (Entrez)NM_001286398 NM_152553
Consensus coding sequences : CCDS (NCBI)RNF217
Gene ExpressionRNF217 [ NCBI-GEO ]   RNF217 [ EBI - ARRAY_EXPRESS ]   RNF217 [ SEEK ]   RNF217 [ MEM ]
Gene Expression Viewer (FireBrowse)RNF217 [ Firebrowse - Broad ]
GenevisibleExpression of RNF217 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)154214
GTEX Portal (Tissue expression)RNF217
Human Protein AtlasENSG00000146373-RNF217 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TC41   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TC41  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TC41
PhosPhoSitePlusQ8TC41
Domaine pattern : Prosite (Expaxy)TRIAD (PS51873)   
Domains : Interpro (EBI)E3_UB_ligase_RBR    IBR_dom    TRIAD_supradom    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)IBR (PF01485)   
Domain families : Pfam (NCBI)pfam01485   
Domain families : Smart (EMBL)IBR (SM00647)  
Conserved Domain (NCBI)RNF217
SuperfamilyQ8TC41
AlphaFold pdb e-kbQ8TC41   
Human Protein Atlas [tissue]ENSG00000146373-RNF217 [tissue]
HPRD17125
Protein Interaction databases
DIP (DOE-UCLA)Q8TC41
IntAct (EBI)Q8TC41
BioGRIDRNF217
STRING (EMBL)RNF217
ZODIACRNF217
Ontologies - Pathways
QuickGOQ8TC41
Ontology : AmiGOubiquitin ligase complex  protein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  cytoplasm  cytosol  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  integral component of membrane  ubiquitin conjugating enzyme binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  metal ion binding  ubiquitin protein ligase activity  
Ontology : EGO-EBIubiquitin ligase complex  protein polyubiquitination  protein polyubiquitination  ubiquitin-protein transferase activity  cytoplasm  cytosol  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  integral component of membrane  ubiquitin conjugating enzyme binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  metal ion binding  ubiquitin protein ligase activity  
NDEx NetworkRNF217
Atlas of Cancer Signalling NetworkRNF217
Wikipedia pathwaysRNF217
Orthology - Evolution
OrthoDB154214
GeneTree (enSembl)ENSG00000146373
Phylogenetic Trees/Animal Genes : TreeFamRNF217
Homologs : HomoloGeneRNF217
Homology/Alignments : Family Browser (UCSC)RNF217
Gene fusions - Rearrangements
Fusion : QuiverRNF217
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRNF217 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RNF217
dbVarRNF217
ClinVarRNF217
MonarchRNF217
1000_GenomesRNF217 
Exome Variant ServerRNF217
GNOMAD BrowserENSG00000146373
Varsome BrowserRNF217
ACMGRNF217 variants
VarityQ8TC41
Genomic Variants (DGV)RNF217 [DGVbeta]
DECIPHERRNF217 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRNF217 
Mutations
ICGC Data PortalRNF217 
TCGA Data PortalRNF217 
Broad Tumor PortalRNF217
OASIS PortalRNF217 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRNF217  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRNF217
Mutations and Diseases : HGMDRNF217
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRNF217
DgiDB (Drug Gene Interaction Database)RNF217
DoCM (Curated mutations)RNF217
CIViC (Clinical Interpretations of Variants in Cancer)RNF217
Cancer3DRNF217
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618592   
Orphanet
DisGeNETRNF217
MedgenRNF217
Genetic Testing Registry RNF217
NextProtQ8TC41 [Medical]
GENETestsRNF217
Target ValidationRNF217
Huge Navigator RNF217 [HugePedia]
ClinGenRNF217
Clinical trials, drugs, therapy
MyCancerGenomeRNF217
Protein Interactions : CTDRNF217
Pharm GKB GenePA162401868
PharosQ8TC41
Clinical trialRNF217
Miscellaneous
canSAR (ICR)RNF217
HarmonizomeRNF217
ARCHS4RNF217
DataMed IndexRNF217
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRNF217
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:31:32 CET 2022

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