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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: 19038

FusionGeneSummary for KLHL2_ARHGEF7

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHL2_ARHGEF7
Fusion gene ID: 19038
HgeneTgene
Gene symbol

KLHL2

ARHGEF7

Gene ID

11275

8874

Gene namekelch like family member 2Rho guanine nucleotide exchange factor 7
SynonymsABP-KELCH|MAV|MAYVENBETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB
Cytomap

4q32.3

13q34

Type of geneprotein-codingprotein-coding
Descriptionkelch-like protein 2actin-binding protein Mayvenkelch-like 2, Mayvenrho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein
Modification date2018052220180522
UniProtAcc

O95198

Q14155

Ensembl transtripts involved in fusion geneENST00000226725, ENST00000514860, 
ENST00000538127, ENST00000421009, 
ENST00000506761, ENST00000509028, 
ENST00000317133, ENST00000375741, 
ENST00000375739, ENST00000370623, 
ENST00000544132, ENST00000218789, 
ENST00000375736, ENST00000426073, 
ENST00000375737, ENST00000375723, 
ENST00000478679, ENST00000483189, 
Fusion gene scores* DoF score4 X 3 X 3=366 X 7 X 4=168
# samples 47
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLHL2 [Title/Abstract] AND ARHGEF7 [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
TgeneARHGEF7

GO:0043547

positive regulation of GTPase activity

21048939


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
TCGARVHNSCTCGA-QK-A8ZA-01AKLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
* 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-shiftENST00000226725ENST00000317133KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000375741KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000375739KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000370623KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000544132KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000218789KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000375736KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000426073KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000375737KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000375723KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000226725ENST00000478679KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
5CDS-intronENST00000226725ENST00000483189KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000317133KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000375741KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000375739KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000370623KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000544132KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000218789KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000375736KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000426073KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000375737KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000375723KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000514860ENST00000478679KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
5CDS-intronENST00000514860ENST00000483189KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000317133KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000375741KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000375739KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000370623KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000544132KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000218789KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000375736KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000426073KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000375737KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000375723KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000538127ENST00000478679KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
5CDS-intronENST00000538127ENST00000483189KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000317133KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000375741KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000375739KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000370623KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000544132KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000218789KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000375736KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000426073KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000375737KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000375723KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000421009ENST00000478679KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
5CDS-intronENST00000421009ENST00000483189KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000317133KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000375741KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000375739KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000370623KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000544132KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000218789KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000375736KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000426073KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000375737KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000375723KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
Frame-shiftENST00000506761ENST00000478679KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
5CDS-intronENST00000506761ENST00000483189KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000317133KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000375741KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000375739KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000370623KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000544132KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000218789KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000375736KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000426073KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000375737KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000375723KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-3CDSENST00000509028ENST00000478679KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+
3UTR-intronENST00000509028ENST00000483189KLHL2chr4

166184511

+ARHGEF7chr13

111929934

+

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FusionProtFeatures for KLHL2_ARHGEF7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHL2

O95198

ARHGEF7

Q14155

Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex that mediates the ubiquitinationof target proteins, such as NPTXR, leading most often to theirproteasomal degradation (By similarity). Responsible fordegradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4.Plays a role in the reorganization of the actin cytoskeleton.Promotes growth of cell projections in oligodendrocyte precursors.{ECO:0000250, ECO:0000269|PubMed:15715669,ECO:0000269|PubMed:23838290}.

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 KLHL2_ARHGEF7


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 KLHL2_ARHGEF7


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
KLHL2KLHL12, CUL3, KEAP1, NACC1, KLHL2, ACTC1, WNK1, WNK2, WNK3, WNK4, UBE2D1, CLK2, BCAM, SDCBP, UBE2C, TNPO2, TXNDC12, TMA16, CCDC43, ZNF114, ZFP36, TSPAN5, DCTN2, KLHL3, DCTN1, UCK1, KLHL17, TRIM47, PIK3C2B, SCYL1, TRIM9, DNAJC13, XIAP, USP28, FAM160B1, SIPA1L1, FBXL17, TRIM8, ACTR10, CUL7, FBXW8, UPRT, DCTN6, FBXO33, ACIN1, DCTN5, DCTN4, UCKL1, ACTR1B, PHLDB3, ARHGEF7, GIT2, CCDC8, DCTN3, GPRASP2, DIABLO, ACTR1A, EPDR1, TCF25, CASK, YARS2, RRBP1, SAMD1, OBSL1, IMPDH1, APPL1, RNPS1ARHGEF7SHANK2, SHANK1, CBL, SHANK3, TUBB3, GIT1, PPM1E, PPM1F, PAK1, PAK3, CDC42, CBLB, CALM1, ITCH, LRRK2, PAK2, ADAM15, ARHGEF6, GRB2, ERBB2IP, MEOX2, EGFR, RAC1, NCK2, HSPB1, KDM2A, NTRK1, MED4, SLC33A1, SCRIB, GIT2, FBXO28, LPXN, NCKIPSD, ICAM1, EXOC1, KLHL2, CAMK4, SYNC, C1orf106, POTEB3


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 KLHL2_ARHGEF7


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 KLHL2_ARHGEF7


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