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RNF213 (lymphoma oligomerization partner on chromosome 17)

Written2003-08Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesC17orf27
KIAA1618
MYMY2
chromosome 17 open reading frame 27
KIAA1618
moyamoya disease 2
Moyamoya disease 2
Alias_symbol (synonym)KIAA1554
NET57
Other aliasALO17 (ALK lymphoma oligomerization partner on chromosome 17)
HGNC (Hugo) RNF213
LocusID (NCBI) 57674
Atlas_Id 480
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80260861 and ends at 80321462 bp from pter ( according to hg19-Feb_2009)  [Mapping RNF213.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGDIA (17q25.3) / RNF213 (17q25.3)FRA10AC1 (10q23.33) / RNF213 (17q25.3)NELFE (6p21.33) / RNF213 (17q25.3)
RNF213 (17q25.3) / ALK (2p23.2)RNF213 (17q25.3) / BAIAP2 (17q25.3)RNF213 (17q25.3) / CA11 (19q13.33)
RNF213 (17q25.3) / ETV5 (3q27.2)RNF213 (17q25.3) / IL22RA1 (1p36.11)RNF213 (17q25.3) / MYC (8q24.21)
RNF213 (17q25.3) / PPM1L (3q25.33)RNF213 (17q25.3) / PRPF38B (1p13.3)RNF213 (17q25.3) / PSAP (10q22.1)
RNF213 (17q25.3) / RNF213 (17q25.3)RNF213 (17q25.3) / SIT1 (9p13.3)RNF213 (17q25.3) / SLC26A11 (17q25.3)
RNF213 (17q25.3) / SLC37A1 (21q22.3)RNF213 (17q25.3) / TPP1 (11p15.4)RPL10 (Xq28) / RNF213 (17q25.3)
RPS6KB1 (17q23.1) / RNF213 (17q25.3)RPTOR (17q25.3) / RNF213 (17q25.3)SLC16A3 (17q25.3) / RNF213 (17q25.3)
TBC1D16 (17q25.3) / RNF213 (17q25.3)UBE2O (17q25.1) / RNF213 (17q25.3)

DNA/RNA

Transcription alternate spicing; 5185 and 5332 bp cDNA

Protein

Description 1550 and 1599 amino acids if the sequence is complete; putative zinc finger in the N term, and AraC motif in the C term

Implicated in

Note
  
Entity Anaplasic large cell lymphoma (ALCL) with t(2;17)(p23;q25) --> ALK- RNF213
Disease ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset.
Prognosis Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly
Hybrid/Mutated Gene 5' ALO17 - 3' ALK
Abnormal Protein NH2 ALO17 - COOH ALK
  

Bibliography

Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.
Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P
Genes, chromosomes & cancer. 2002 ; 34 (4) : 354-362.
PMID 12112524
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
ALO17 (ALK lymphoma oligomerization partner on chromosome 17)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):220-220.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ALO17ID480.html


Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias AnaplLargeCelLymphID2103 t0217p23q25ID1289 TL_t0817q24q25ID3151 TL_t1717q25q25ID3152 TL_t1717q25q25ID3243


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]

Solid Tumors TT_t0117p36q25ID104238 TT_t0317q27q25ID105682 TT_t1717q23q25ID102783 TT_t1717q25q25ID102815 TT_t1717q25q25ID102849
TT_t1717q25q25ID102851 TT_t1717q25q25ID102877


External links

Nomenclature
HGNC (Hugo)RNF213   14539
Cards
AtlasALO17ID480
Entrez_Gene (NCBI)RNF213  57674  ring finger protein 213
AliasesALO17; C17orf27; KIAA1618; MYMY2; 
MYSTR; NET57
GeneCards (Weizmann)RNF213
Ensembl hg19 (Hinxton)ENSG00000173821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173821 [Gene_View]  ENSG00000173821 [Sequence]  chr17:80260861-80321462 [Contig_View]  RNF213 [Vega]
ICGC DataPortalENSG00000173821
TCGA cBioPortalRNF213
AceView (NCBI)RNF213
Genatlas (Paris)RNF213
WikiGenes57674
SOURCE (Princeton)RNF213
Genetics Home Reference (NIH)RNF213
Genomic and cartography
GoldenPath hg38 (UCSC)RNF213  -     chr17:80260861-80321462 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RNF213  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathRNF213 - 17q25.3 [CytoView hg19]  RNF213 - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000173821
Mapping of homologs : NCBIRNF213 [Mapview hg19]  RNF213 [Mapview hg38]
OMIM607151   613768   
Gene and transcription
Genbank (Entrez)AB046774 AB046838 AB537889 AF397204 AF397205
RefSeq transcript (Entrez)NM_001256071 NM_020914 NM_020954
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RNF213
Cluster EST : UnigeneHs.745415 [ NCBI ]
CGAP (NCI)Hs.745415
Alternative Splicing GalleryENSG00000173821
Gene ExpressionRNF213 [ NCBI-GEO ]   RNF213 [ EBI - ARRAY_EXPRESS ]   RNF213 [ SEEK ]   RNF213 [ MEM ]
Gene Expression Viewer (FireBrowse)RNF213 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57674
GTEX Portal (Tissue expression)RNF213
Human Protein AtlasENSG00000173821-RNF213 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ63HN8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ63HN8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ63HN8
Splice isoforms : SwissVarQ63HN8
PhosPhoSitePlusQ63HN8
Domaine pattern : Prosite (Expaxy)ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)AAA+_ATPase    P-loop_NTPase    RNF213    Znf_C3HC4_RING-type    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)zf-C3HC4 (PF00097)   
Domain families : Pfam (NCBI)pfam00097   
Domain families : Smart (EMBL)AAA (SM00382)  RING (SM00184)  
Conserved Domain (NCBI)RNF213
DMDM Disease mutations57674
Blocks (Seattle)RNF213
SuperfamilyQ63HN8
Human Protein Atlas [tissue]ENSG00000173821-RNF213 [tissue]
Peptide AtlasQ63HN8
HPRD10716
IPIIPI00965321   IPI00470478   IPI00642126   IPI00217287   IPI00782972   IPI00103821   IPI00828098   
Protein Interaction databases
DIP (DOE-UCLA)Q63HN8
IntAct (EBI)Q63HN8
FunCoupENSG00000173821
BioGRIDRNF213
STRING (EMBL)RNF213
ZODIACRNF213
Ontologies - Pathways
QuickGOQ63HN8
Ontology : AmiGOprotein polyubiquitination  angiogenesis  sprouting angiogenesis  sprouting angiogenesis  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  nucleolus  nucleolus  cytoplasm  cytoplasm  cytosol  cytosol  cytosol  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  membrane  protein ubiquitination  ATPase activity  metal ion binding  protein homooligomerization  protein autoubiquitination  negative regulation of non-canonical Wnt signaling pathway  negative regulation of non-canonical Wnt signaling pathway  
Ontology : EGO-EBIprotein polyubiquitination  angiogenesis  sprouting angiogenesis  sprouting angiogenesis  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  nucleolus  nucleolus  cytoplasm  cytoplasm  cytosol  cytosol  cytosol  ubiquitin-dependent protein catabolic process  ubiquitin-dependent protein catabolic process  membrane  protein ubiquitination  ATPase activity  metal ion binding  protein homooligomerization  protein autoubiquitination  negative regulation of non-canonical Wnt signaling pathway  negative regulation of non-canonical Wnt signaling pathway  
NDEx NetworkRNF213
Atlas of Cancer Signalling NetworkRNF213
Wikipedia pathwaysRNF213
Orthology - Evolution
OrthoDB57674
GeneTree (enSembl)ENSG00000173821
Phylogenetic Trees/Animal Genes : TreeFamRNF213
HOGENOMQ63HN8
Homologs : HomoloGeneRNF213
Homology/Alignments : Family Browser (UCSC)RNF213
Gene fusions - Rearrangements
Fusion : MitelmanARHGDIA/RNF213 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanRNF213/ALK [17q25.3/2p23.2]  [t(2;17)(p23;q25)]  
Fusion : MitelmanRNF213/ETV5 [17q25.3/3q27.2]  [t(3;17)(q27;q25)]  
Fusion : MitelmanRNF213/IL22RA1 [17q25.3/1p36.11]  [t(1;17)(p36;q25)]  
Fusion : MitelmanRNF213/MYC [17q25.3/8q24.21]  [t(8;17)(q24;q25)]  
Fusion : MitelmanRNF213/SLC26A11 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanRPS6KB1/RNF213 [17q23.1/17q25.3]  [t(17;17)(q23;q25)]  
Fusion : MitelmanRPTOR/RNF213 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanTBC1D16/RNF213 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanUBE2O/RNF213 [17q25.1/17q25.3]  [t(17;17)(q25;q25)]  
Fusion PortalARHGDIA 17q25.3 RNF213 17q25.3 LUAD
Fusion PortalRNF213 17q25.3 ETV5 3q27.2 BRCA
Fusion PortalRNF213 17q25.3 IL22RA1 1p36.11 BLCA
Fusion PortalRNF213 17q25.3 SLC26A11 17q25.3 BRCA
Fusion PortalRPS6KB1 17q23.1 RNF213 17q25.3 BRCA
Fusion PortalRPTOR 17q25.3 RNF213 17q25.3 BRCA
Fusion PortalUBE2O 17q25.1 RNF213 17q25.3 BRCA
Fusion : TICdbRNF213 [17q25.3]  -  ALK [2p23.2]
Fusion Cancer (Beijing)RNF213 [17q25.3]  -  SLC26A11 [17q25.3]  [FUSC001666]
Fusion Cancer (Beijing)cytochrome_b [RNF213]  -  17q25.3 [FUSC004466]
Fusion : FusionGDB11597    13794    13862    23417    2488    31513    31514    31515    31516    31517    31518    31519    31520    31521    31522   
31523    31524    31525    31526    31527    31528    31529    31530    31531    31532    31533    31534    31771    32154    32210   
34076    40469    8635   
Fusion : Fusion_HubABL1--RNF213    ABR--RNF213    ADSS--RNF213    ALK--RNF213    ARHGDIA--RNF213    BBS1--RNF213    C17ORF66--RNF213    CD248--RNF213    CTSB--RNF213    CYP24A1--RNF213    CYTOCHROME_B--RNF213    FLG-AS1--RNF213    FOXK2--RNF213    FRA10AC1--RNF213    IGKC--RNF213   
LDLRAD4--RNF213    MGMT--RNF213    MKL1--RNF213    MX1--RNF213    MYC--RNF213    NAPSA--RNF213    PLAUR--RNF213    PPARD--RNF213    PRKCB--RNF213    PROSC--RNF213    RHOC--RNF213    RNF213--ACTG1    RNF213--ALK    RNF213--AP1G2    RNF213--BAIAP2   
RNF213--C14ORF159    RNF213--CA11    RNF213--CANT1    RNF213--CARD14    RNF213--CDK5RAP3    RNF213--CENPT    RNF213--CFI    RNF213--CIB1    RNF213--CSNK1D    RNF213--CTSB    RNF213--DLG2    RNF213--DMPK    RNF213--DOCK6    RNF213--DYSFIP1    RNF213--EEF2   
RNF213--ELF1    RNF213--ETV5    RNF213--FAM156A    RNF213--FAM178A    RNF213--GABPB1    RNF213--GLI4    RNF213--HERPUD1    RNF213--HGS    RNF213--HNRNPH1    RNF213--IGLL5    RNF213--IL22RA1    RNF213--INTS8    RNF213--MB    RNF213--MYH6    RNF213--MYO19   
RNF213--N4BP2L2    RNF213--NVL    RNF213--PLCD4    RNF213--PPM1L    RNF213--PRPF38B    RNF213--PSAP    RNF213--RNF213    RNF213--RPS6KB1    RNF213--SAR1A    RNF213--SFTPC    RNF213--SIT1    RNF213--SLC25A19    RNF213--SLC26A11    RNF213--SLC37A1    RNF213--TBCD   
RNF213--TPP1    RNF213--TRIM65    RNF213--UBAP2L    RNF213--VIM    RNF213--WSB1    RNF213--ZNF330    RNF213--ZNF384    RNF213--ZNF652    RP11-281O15.3.1--RNF213    RPL10--RNF213    RPS20--RNF213    RPS6KB1--RNF213    RPTOR--RNF213    SLC16A3--RNF213    SLC26A11--RNF213   
SLFN5--RNF213    TUBA1B--RNF213    TYSND1--RNF213    UBE2O--RNF213   
Fusion : QuiverRNF213
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRNF213 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RNF213
dbVarRNF213
ClinVarRNF213
1000_GenomesRNF213 
Exome Variant ServerRNF213
ExAC (Exome Aggregation Consortium)ENSG00000173821
GNOMAD BrowserENSG00000173821
Varsome BrowserRNF213
Genetic variants : HAPMAP57674
Genomic Variants (DGV)RNF213 [DGVbeta]
DECIPHERRNF213 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRNF213 
Mutations
ICGC Data PortalRNF213 
TCGA Data PortalRNF213 
Broad Tumor PortalRNF213
OASIS PortalRNF213 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRNF213  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRNF213
Mutations and Diseases : HGMDRNF213
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 RNF213
DgiDB (Drug Gene Interaction Database)RNF213
DoCM (Curated mutations)RNF213 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RNF213 (select a term)
intoGenRNF213
NCG5 (London)RNF213
Cancer3DRNF213(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607151    613768   
Orphanet2373   
DisGeNETRNF213
MedgenRNF213
Genetic Testing Registry RNF213
NextProtQ63HN8 [Medical]
TSGene57674
GENETestsRNF213
Target ValidationRNF213
Huge Navigator RNF213 [HugePedia]
snp3D : Map Gene to Disease57674
BioCentury BCIQRNF213
ClinGenRNF213
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57674
Chemical/Pharm GKB GenePA162401681
Clinical trialRNF213
Miscellaneous
canSAR (ICR)RNF213 (select the gene name)
DataMed IndexRNF213
Probes
Litterature
PubMed99 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRNF213
EVEXRNF213
GoPubMedRNF213
iHOPRNF213
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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