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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: 4593

FusionGeneSummary for BZW2_KLHL7

check button Fusion gene summary
Fusion gene informationFusion gene name: BZW2_KLHL7
Fusion gene ID: 4593
HgeneTgene
Gene symbol

BZW2

KLHL7

Gene ID

28969

55975

Gene namebasic leucine zipper and W2 domains 2kelch like family member 7
SynonymsHSPC028|MST017|MSTP017CISS3|KLHL6|SBBI26
Cytomap

7p21.1

7p15.3

Type of geneprotein-codingprotein-coding
Descriptionbasic leucine zipper and W2 domain-containing protein 2kelch-like protein 7kelch-like 6kelch-like 7kelch/BTB
Modification date2018052320180522
UniProtAcc

Q9Y6E2

Q8IXQ5

Ensembl transtripts involved in fusion geneENST00000258761, ENST00000433922, 
ENST00000432311, ENST00000452975, 
ENST00000405202, ENST00000407633, 
ENST00000322231, ENST00000339077, 
ENST00000539124, ENST00000542558, 
ENST00000409689, ENST00000545443, 
ENST00000479288, ENST00000322275, 
ENST00000410047, ENST00000545771, 
Fusion gene scores* DoF score8 X 6 X 5=2403 X 2 X 3=18
# samples 83
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BZW2 [Title/Abstract] AND KLHL7 [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
TgeneKLHL7

GO:0016567

protein ubiquitination

21828050


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
TCGALDBRCATCGA-EW-A1P4-01ABZW2chr7

16744294

+KLHL7chr7

23195610

+
* 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
5CDS-intronENST00000258761ENST00000322231BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000339077BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000539124BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000542558BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000409689BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000545443BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000479288BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000322275BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000410047BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000258761ENST00000545771BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000322231BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000339077BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000539124BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000542558BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000409689BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000545443BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000479288BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000322275BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000410047BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000433922ENST00000545771BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000322231BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000339077BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000539124BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000542558BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000409689BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000545443BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000479288BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000322275BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000410047BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000432311ENST00000545771BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000322231BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000339077BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000539124BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000542558BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000409689BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000545443BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000479288BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000322275BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000410047BZW2chr7

16744294

+KLHL7chr7

23195610

+
intron-intronENST00000452975ENST00000545771BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000322231BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000339077BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000539124BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000542558BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000409689BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000545443BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000479288BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000322275BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000410047BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000405202ENST00000545771BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000322231BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000339077BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000539124BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000542558BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000409689BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000545443BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000479288BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000322275BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000410047BZW2chr7

16744294

+KLHL7chr7

23195610

+
5CDS-intronENST00000407633ENST00000545771BZW2chr7

16744294

+KLHL7chr7

23195610

+

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FusionProtFeatures for BZW2_KLHL7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BZW2

Q9Y6E2

KLHL7

Q8IXQ5

May be involved in neuronal differentiation.{ECO:0000250}. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediatingubiquitination and subsequent degradation of substrate proteins.Probably mediates 'Lys-48'-linked ubiquitination.{ECO:0000269|PubMed:21828050}.

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 BZW2_KLHL7


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 BZW2_KLHL7


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
BZW2BZW1, PSTPIP1, GSK3B, ELAVL1, VCP, FN1, EGFR, ABHD14A, CAPN1, CNBP, DFFA, EIF6, HSPA9, PFAS, CTSA, PPP5C, C11orf58, GINS3, PAFAH1B2, PHKG2, PTPLAD1, EIF2A, EIF2B1, EIF3A, STX12, RAB1B, CD68, GPR183, LYPD3, SCN2B, CYFIP1, EIF5, HSD17B10, STAG2, NTRK1, CDH1, PTPRE, MUL1, EXOG, NT5C3A, CANT1, ENDOD1, TMEM43, TMEM206, ZFPL1, SCCPDH, GYPB, MRS2, MAVS, OMA1, TVP23C, NXT1, RRAS, NRAS, VIPR2, SLC27A2, PTPRN, TPTE, SMDT1, EIF2B2, EIF2B4KLHL7CUL3, RBX1, KLHL7, UBC, MOV10, NXF1, NUP50, C9orf41, NR2C2, YWHAZ, CKAP5, NUP153, FERMT3, BOD1L1, MSRB3, KLHL6, ARIH1, SDC2, STAT5A, CEP44, GLI3


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 BZW2_KLHL7


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 BZW2_KLHL7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKLHL7C2751986RETINITIS PIGMENTOSA 421CTD_human;UNIPROT