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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: 13225

FusionGeneSummary for FBXW7_SETD7

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXW7_SETD7
Fusion gene ID: 13225
HgeneTgene
Gene symbol

FBXW7

SETD7

Gene ID

55294

80854

Gene nameF-box and WD repeat domain containing 7SET domain containing lysine methyltransferase 7
SynonymsAGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4KMT7|SET7|SET7/9|SET9
Cytomap

4q31.3

4q31.1

Type of geneprotein-codingprotein-coding
DescriptionF-box/WD repeat-containing protein 7F-box and WD repeat domain containing 7, E3 ubiquitin protein ligaseF-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)F-box protein FBW7F-box protein FBX30F-box protein SEL-10archipelagohomolog ofhistone-lysine N-methyltransferase SETD7H3-K4-HMTase SETD7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specific methyltransferaselysine N-methyltransferase 7
Modification date2018052720180519
UniProtAcc

Q969H0

Q8WTS6

Ensembl transtripts involved in fusion geneENST00000281708, ENST00000603548, 
ENST00000604872, ENST00000296555, 
ENST00000263981, ENST00000393956, 
ENST00000603841, ENST00000604095, 
ENST00000506866, ENST00000274031, 
ENST00000404104, ENST00000406354, 
ENST00000608958, 
Fusion gene scores* DoF score9 X 5 X 7=3152 X 2 X 2=8
# samples 103
** MAII scorelog2(10/315*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/8*10)=1.90689059560852
Context

PubMed: FBXW7 [Title/Abstract] AND SETD7 [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
HgeneFBXW7

GO:0016567

protein ubiquitination

12354302|15103331

HgeneFBXW7

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331|17434132

HgeneFBXW7

GO:0031398

positive regulation of protein ubiquitination

12628165

HgeneFBXW7

GO:0045741

positive regulation of epidermal growth factor-activated receptor activity

20208556

HgeneFBXW7

GO:0050821

protein stabilization

20208556

HgeneFBXW7

GO:0051443

positive regulation of ubiquitin-protein transferase activity

12628165

HgeneFBXW7

GO:1901800

positive regulation of proteasomal protein catabolic process

23858059

HgeneFBXW7

GO:1903378

positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway

23858059

HgeneFBXW7

GO:2000060

positive regulation of ubiquitin-dependent protein catabolic process

20208556

TgeneSETD7

GO:0006974

cellular response to DNA damage stimulus

23509280

TgeneSETD7

GO:0018026

peptidyl-lysine monomethylation

17108971

TgeneSETD7

GO:0018027

peptidyl-lysine dimethylation

17108971

TgeneSETD7

GO:0070828

heterochromatin organization

23509280


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
TCGALDPRADTCGA-M7-A724-01AFBXW7chr4

153456093

-SETD7chr4

140417675

-
* 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
5UTR-3CDSENST00000281708ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000281708ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-3CDSENST00000603548ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000603548ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-3CDSENST00000604872ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604872ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000296555ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000296555ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000263981ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000263981ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000393956ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000393956ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-3CDSENST00000603841ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
intron-intronENST00000603841ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-3CDSENST00000604095ENST00000506866FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000274031FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000404104FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000406354FBXW7chr4

153456093

-SETD7chr4

140417675

-
5UTR-intronENST00000604095ENST00000608958FBXW7chr4

153456093

-SETD7chr4

140417675

-

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FusionProtFeatures for FBXW7_SETD7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXW7

Q969H0

SETD7

Q8WTS6

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediatesthe ubiquitination and subsequent proteasomal degradation oftarget proteins. Recognizes and binds phosphorylatedsites/phosphodegrons within target proteins and thereafter bringthem to the SCF complex for ubiquitination (PubMed:17434132).Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC,NOTCH1 released notch intracellular domain (NICD), NOTCH2, MCL1,and probably PSEN1 (PubMed:11565034, PubMed:12354302,PubMed:11585921, PubMed:15103331, PubMed:14739463,PubMed:17558397, PubMed:17873522, PubMed:22608923,PubMed:29149593, PubMed:25775507, PubMed:28007894). Acts as anegative regulator of JNK signaling by binding to phosphorylatedJUN and promoting its ubiquitination and subsequent degradation(PubMed:14739463). SCF(FBXW7) complex mediates the ubiquitinationand subsequent degradation of NFE2L1 (By similarity). Involved inbone homeostasis and negative regulation of osteoclastdifferentiation (PubMed:29149593). {ECO:0000250|UniProtKB:Q8VBV4,ECO:0000269|PubMed:11565034, ECO:0000269|PubMed:11585921,ECO:0000269|PubMed:14739463, ECO:0000269|PubMed:15103331,ECO:0000269|PubMed:17434132, ECO:0000269|PubMed:17558397,ECO:0000269|PubMed:17873522, ECO:0000269|PubMed:22608923,ECO:0000269|PubMed:25775507, ECO:0000269|PubMed:28007894,ECO:0000269|PubMed:29149593, ECO:0000305|PubMed:12354302}. Histone methyltransferase that specificallymonomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylationrepresents a specific tag for epigenetic transcriptionalactivation. Plays a central role in the transcriptional activationof genes such as collagenase or insulin. Recruited by IPF1/PDX-1to the insulin promoter, leading to activate transcription. Hasalso methyltransferase activity toward non-histone proteins suchas p53/TP53, TAF10, and possibly TAF7 by recognizing and bindingthe [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189'of TAF10, leading to increase the affinity of TAF10 for RNApolymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizingp53/TP53 and increasing p53/TP53-mediated transcriptionalactivation. {ECO:0000269|PubMed:12540855,ECO:0000269|PubMed:12588998, ECO:0000269|PubMed:15099517,ECO:0000269|PubMed:15525938, ECO:0000269|PubMed:16141209,ECO:0000269|PubMed:17108971}.

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 FBXW7_SETD7


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 FBXW7_SETD7


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
FBXW7NFKB2, CCNE1, PARK2, SKP1, MMS22L, LINGO1, KIAA1875, SUMF2, ARL6IP1, SHPRH, CUL1, PSEN1, NOTCH1, MTOR, MYB, HIPK2, PPARGC1A, MYC, SREBF1, KLF5, GNB2L1, CCNE2, MYCN, AURKA, DCLRE1C, HIF1A, EIF3E, FBXW7, NFE2L1, PIN1, TP63, RBX1, EBNA1BP2, USP28, TOP2A, PSMA2, REST, GSK3B, RICTOR, GLMN, JAG1, BTG1, CDC34, AURKB, MED12, MED1, MED13, MED13L, MED14, MED23, MED16, MED15, MED4, MED8, MED24, MED20, MED22, MED27, MED10, MED9, MED17, MED11, MED19, MED21, MED28, MED29, MED30, MED31, MED6, CCNC, CCDC6, STOML1, CDK2, HSP90AA1, KLF2, PTEN, NCOA3, CSF3R, UBE2QL1, MAP4K1, EYA1, YAP1, DAB2IP, MCL1, MOV10, NXF1, USP36, SNCA, CRY2, GATA3, CUL7, BUB1B, FANCD2, RAB4B, RAG1, RFWD3, KRAS, MAPK3, ANGPTL4, BCAS3, BEX1, IL24, SCGB3A1, TRIM25, GATA2, NFE2L3, RUNX2, FAM83D, RND3, MYCBP2, FBXO45, HECTD1, CCT3, HSF1, FKBP5, DDX39A, YBX1, SERBP1, RAE1, FMR1, RPL29, SF3A3, TSEN34, BCAS2, RPL10L, CPSF3, NMT1, RBM28, SPRYD3, IPO4, CDK8, DDX17, EP400, NAA10, ARID4B, FAM60A, GTF3C2, MAX, TAF9, RCOR1, HIST1H2AD, HIST1H1E, CREB3L2, MORF4L2, CEBPZ, SIN3A, SSRP1, RIOK1, PPP1CB, ACLY, CSNK1A1L, SMU1, GFPT2, ATG16L2, DPM1, HADHA, TUBBP2, TUBA1C, TMOD3, ACTR2, PRPH, MAP7D1, MAGEF1, AP3D1, CLASP1, SNX8, PSMA4, MYO5A, MAGEC2, ENO1, FGA, RERE, GAK, CPSF1, OSGIN2, SPAG11B, MS4A1, CDH19, HERC2P2, PVRL3, SUPT6H, MPPED1, GAMTP1, SSBP1, TXLNGY, SSH2, CYBB, CYLD, PUF60, CMIP, RSBN1L, C6orf136, EPOR, GRM3, NAPG, TBX4, GGCT, MASTL, DDO, KATNAL1, RSPRY1, MOCS1, NDUFB9, NELFE, NCOR1, TRAT1, EXOSC4, TMEM126B, C8orf44, ACTR5, C5orf64, SOX7, GMDS, MEP1A, PTPRN2, CTDP1, UBAC1, NAT8B, RNPC3, VPS16, MTFMT, ZC3H18, SPRED1, SNRNP70, LETM2, EBF3, SPTBN1, PHF20L1, CINP, EIF4E3, COL1A2, SLC35A1, DIDO1, TNFRSF19, TMEM65, LINC00173, AP2A1, EIF4A3, TUBA1B, ZCCHC3, EFHC1, DNAJC21, MMAA, C5orf51, LRRTM1, LCE1B, COPS6, FAM32A, TBCB, ITGAV, POLR2K, SNRPB2, BARX2, CTIF, DUSP16, OR51V1, COL12A1, CDK18, PTGDS, SLC17A1, COPS3, TRIM58, ZFR, SRBD1, SHROOM4, RALYL, NUDT4P1, GRIK3, DLC1, RBMX, PALM2-AKAP2, CDR2, LPA, SPDL1, H2AFY2, C5orf15, SENP7, ALKBH8, ZNF563, PRPSAP1, SNRPF, TJP2, RERG, B3GALNT2, BRAF, JUN, SOX10, DEPTOR, FOXM1, C1orf86, STAT3, PLK1, CDX2, CTNNB1, SOX9, PA2G4, EGLN2, STYX, FBXW2, PRR36, CREB3L1, TRAF2, TP53, MAGEA1, ARHGDIA, EXT1, TSC22D4, PLK2, NONO, HNRNPK, BLM, DISC1SETD7L3MBTL1, DNMT1, RELA, TP53, TAF10, HIST1H3A, ESR1, HIST1H4A, TBP, TAF7, TAF6, E2F1, SIRT1, PPP1R12A, HIST3H3, AR, STAT3, H3F3A, SMARCA4, MYOD1, DPY30, MED1, SERTAD1, A1BG, PRKAR1A, NR2F2, STEAP3, SOX2, KLF4, SETD7, FAM189B, AGTR1, CCR1, ZFP41, CEP170, FOXO1, MDM2, UBXN7, SMAD7, RNF111, SMURF1, SMURF2, PTPN2, ARIH1, TRIM25


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 FBXW7_SETD7


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 FBXW7_SETD7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBXW7C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
HgeneFBXW7C0007117Basal cell carcinoma1CTD_human
HgeneFBXW7C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneFBXW7C0014170Endometrial Neoplasms1CTD_human
HgeneFBXW7C0017638Glioma1CTD_human
HgeneFBXW7C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneFBXW7C0919532Genomic Instability1CTD_human
HgeneFBXW7C1458155Mammary Neoplasms1CTD_human