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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13794

FusionGeneSummary for FOXK2_RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXK2_RNF213
Fusion gene ID: 13794
HgeneTgene
Gene symbol

FOXK2

RNF213

Gene ID

3607

57674

Gene nameforkhead box K2ring finger protein 213
SynonymsILF|ILF-1|ILF1ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein K2FOXK1cellular transcription factor ILF-1interleukin enhancer-binding factor 1E3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2018052320180527
UniProtAcc

Q01167

Q63HN8

Ensembl transtripts involved in fusion geneENST00000335255, ENST00000529652, 
ENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
Fusion gene scores* DoF score25 X 11 X 12=330012 X 13 X 6=936
# samples 2315
** MAII scorelog2(23/3300*10)=-3.8427602581888
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FOXK2 [Title/Abstract] AND RNF213 [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
HgeneFOXK2

GO:0045944

positive regulation of transcription by RNA polymerase II

9065434

TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


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
TCGARVSTADTCGA-BR-8590-01AFOXK2chr17

80478183

+RNF213chr17

78261614

+
* 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-shitENST00000335255ENST00000508628FOXK2chr17

80478183

+RNF213chr17

78261614

+
Frame-shitENST00000335255ENST00000456466FOXK2chr17

80478183

+RNF213chr17

78261614

+
Frame-shitENST00000335255ENST00000582970FOXK2chr17

80478183

+RNF213chr17

78261614

+
Frame-shitENST00000335255ENST00000319921FOXK2chr17

80478183

+RNF213chr17

78261614

+
5CDS-intronENST00000335255ENST00000336301FOXK2chr17

80478183

+RNF213chr17

78261614

+
5CDS-intronENST00000335255ENST00000427003FOXK2chr17

80478183

+RNF213chr17

78261614

+
intron-3CDSENST00000529652ENST00000508628FOXK2chr17

80478183

+RNF213chr17

78261614

+
intron-3CDSENST00000529652ENST00000456466FOXK2chr17

80478183

+RNF213chr17

78261614

+
intron-3CDSENST00000529652ENST00000582970FOXK2chr17

80478183

+RNF213chr17

78261614

+
intron-3CDSENST00000529652ENST00000319921FOXK2chr17

80478183

+RNF213chr17

78261614

+
intron-intronENST00000529652ENST00000336301FOXK2chr17

80478183

+RNF213chr17

78261614

+
intron-intronENST00000529652ENST00000427003FOXK2chr17

80478183

+RNF213chr17

78261614

+

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FusionProtFeatures for FOXK2_RNF213


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FOXK2

Q01167

RNF213

Q63HN8

Transcriptional regulator that recognizes the coresequence 5'-TAAACA-3'. Binds to NFAT-like motifs (purine-rich) inthe IL2 promoter (PubMed:1339390). Positively regulates WNT/beta-catenin signaling by translocating DVL proteins into the nucleus(PubMed:25805136). Also binds to HIV-1 long terminal repeat. Maybe involved in both positive and negative regulation of importantviral and cellular promoter elements (PubMed:1909027).{ECO:0000269|PubMed:1339390, ECO:0000269|PubMed:1909027,ECO:0000269|PubMed:25805136}.

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


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FusionGeneSequence for FOXK2_RNF213


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).

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FusionGenePPI for FOXK2_RNF213


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
FOXK2BAP1, AMOT, IRF2, CBX6, SOX2, HECW2, GPS2, RBBP7, SMU1, TEAD1, ESR1, BARD1, XPO1, SAP30, CTR9, HCFC1, MAX, TEAD2, FOXE1, FOXK1, SIN3A, ARID4B, BPTF, NCOR1, ARID4A, SMARCA5, TFAP4, MNT, SAP130, SUDS3, SMARCA1, ZBTB10, BRMS1L, KANSL1, TBL1XR1, ASXL2, BRMS1, MAP1B, TPR, CIC, C17orf49, LIG3, KMT2D, ASXL1, CHD4, HDAC2, ING2, MCRS1, PRDM10, RB1, RBBP5, TBP, KDM1B, DVL2, ING1, KDM5A, KANSL3, PHF20L1, CUX1, DMAP1, DRAP1, HIRA, HMGXB4, HOXD13, NCOR2, SATB2, SIN3B, TBL1X, TBL1Y, ADNP, C11orf30, KANSL2, DPY30, GTF3C3, H2AFY, HOXB9, NFYC, NRF1, NUP107, PSIP1, SAP30L, SF3B1, TP53BP1, SNX9, UBR4, RBM26, PUF60, ANKRD52, EIF2AK3, CHEK2, PRRC2C, UHRF1BP1, ANKRD28, SRPK2, CDK11A, KIAA0513, PER1, USP47, FLJ25613, TMF1, ABHD10, EIF5B, KANK2, RSRC2, FAM120A, NHP2, PHF23, SNRNP200, THRAP3, TP53, YTHDC1, HDAC1, NFATC1, DVL3, ZNF428, AHCYL2, TNFRSF1A, TULP3, FAM60A, PDGFRB, IKZF1, TP63, ZBTB39, CPD, TRIM25RNF213UBC, 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, CYLD


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


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RelatedDrugs for FOXK2_RNF213


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

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RelatedDiseases for FOXK2_RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT