FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 31515

FusionGeneSummary for RNF213_CARD14

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF213_CARD14
Fusion gene ID: 31515
HgeneTgene
Gene symbol

RNF213

CARD14

Gene ID

57674

79092

Gene namering finger protein 213caspase recruitment domain family member 14
SynonymsALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57BIMP2|CARMA2|PRP|PSORS2|PSS1
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterincaspase recruitment domain-containing protein 14CARD-containing MAGUK protein 2bcl10-interacting maguk protein 2
Modification date2018052720180519
UniProtAcc

Q63HN8

Q9BXL6

Ensembl transtripts involved in fusion geneENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000573882, ENST00000344227, 
ENST00000570421, ENST00000392434, 
ENST00000573754, 
Fusion gene scores* DoF score22 X 22 X 12=58081 X 1 X 1=1
# samples 301
** MAII scorelog2(30/5808*10)=-4.27500704749987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RNF213 [Title/Abstract] AND CARD14 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneRNF213

GO:0016567

protein ubiquitination

21799892

HgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

HgeneRNF213

GO:0051865

protein autoubiquitination

21799892

TgeneCARD14

GO:0001934

positive regulation of protein phosphorylation

11278692


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-BH-A0B1-01ARNF213chr17

78269613

+CARD14chr17

78162176

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000508628ENST00000573882RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000508628ENST00000344227RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000508628ENST00000570421RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-5UTRENST00000508628ENST00000392434RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-3UTRENST00000508628ENST00000573754RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000456466ENST00000573882RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000456466ENST00000344227RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000456466ENST00000570421RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-5UTRENST00000456466ENST00000392434RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-3UTRENST00000456466ENST00000573754RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000582970ENST00000573882RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000582970ENST00000344227RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000582970ENST00000570421RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-5UTRENST00000582970ENST00000392434RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-3UTRENST00000582970ENST00000573754RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000319921ENST00000573882RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000319921ENST00000344227RNF213chr17

78269613

+CARD14chr17

78162176

+
Frame-shitENST00000319921ENST00000570421RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-5UTRENST00000319921ENST00000392434RNF213chr17

78269613

+CARD14chr17

78162176

+
5CDS-3UTRENST00000319921ENST00000573754RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3CDSENST00000336301ENST00000573882RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3CDSENST00000336301ENST00000344227RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3CDSENST00000336301ENST00000570421RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-5UTRENST00000336301ENST00000392434RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3UTRENST00000336301ENST00000573754RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3CDSENST00000427003ENST00000573882RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3CDSENST00000427003ENST00000344227RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3CDSENST00000427003ENST00000570421RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-5UTRENST00000427003ENST00000392434RNF213chr17

78269613

+CARD14chr17

78162176

+
intron-3UTRENST00000427003ENST00000573754RNF213chr17

78269613

+CARD14chr17

78162176

+

Top

FusionProtFeatures for RNF213_CARD14


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF213

Q63HN8

CARD14

Q9BXL6

Acts as a scaffolding protein that can activate theinflammatory transcription factor NF-kappa-B and p38/JNK MAPkinase signaling pathways. Forms a signaling complex with BCL10and MALT1, and activates MALT1 proteolytic activity andinflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases(PubMed:11278692, PubMed:21302310, PubMed:27113748,PubMed:27071417). May play a role in signaling mediated by TRAF2,TRAF3 and TRAF6 and protects cells against apoptosis.{ECO:0000269|PubMed:11278692, ECO:0000269|PubMed:21302310,ECO:0000269|PubMed:27071417, ECO:0000269|PubMed:27113748}. Isoform 3: Not able to activate the inflammatorytranscription factor NF-kappa-B and may fuction as a dominantnegative regulator (PubMed:21302310, PubMed:26358359).{ECO:0000269|PubMed:21302310, ECO:0000269|PubMed:26358359}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for RNF213_CARD14


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for RNF213_CARD14


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
RNF213UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLDCARD14TRIP13, BCL10, HECW2, ZNF471, MAP3K1, PPME1, PCGF1, RNF7, MALT1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for RNF213_CARD14


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for RNF213_CARD14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT
TgeneCARD14C0033860Psoriasis2CTD_human
TgeneCARD14C1864497PSORIASIS 22UNIPROT
TgeneCARD14C0032027Pityriasis Rubra Pilaris1ORPHANET;UNIPROT