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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: 32992

FusionGeneSummary for SDK2_CDC42EP4

check button Fusion gene summary
Fusion gene informationFusion gene name: SDK2_CDC42EP4
Fusion gene ID: 32992
HgeneTgene
Gene symbol

SDK2

CDC42EP4

Gene ID

54549

23580

Gene namesidekick cell adhesion molecule 2CDC42 effector protein 4
Synonyms-BORG4|CEP4|KAIA1777
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionprotein sidekick-2sidekick homolog 2cdc42 effector protein 4CDC42 effector protein (Rho GTPase binding) 4binder of Rho GTPases 4
Modification date2018051920180523
UniProtAcc

Q58EX2

Q9H3Q1

Ensembl transtripts involved in fusion geneENST00000392650, ENST00000388726, 
ENST00000410094, 
ENST00000335793, 
ENST00000439510, ENST00000581014, 
ENST00000582303, 
Fusion gene scores* DoF score3 X 4 X 3=366 X 2 X 7=84
# samples 48
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/84*10)=-0.070389327891398
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SDK2 [Title/Abstract] AND CDC42EP4 [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
TgeneCDC42EP4

GO:0008360

regulation of cell shape

11035016

TgeneCDC42EP4

GO:0031274

positive regulation of pseudopodium assembly

11035016


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
TCGALDHNSCTCGA-D6-6826-01ASDK2chr17

71361397

-CDC42EP4chr17

71282751

-
* 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-5UTRENST00000392650ENST00000335793SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-5UTRENST00000392650ENST00000439510SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-5UTRENST00000392650ENST00000581014SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-intronENST00000392650ENST00000582303SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-5UTRENST00000388726ENST00000335793SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-5UTRENST00000388726ENST00000439510SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-5UTRENST00000388726ENST00000581014SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5CDS-intronENST00000388726ENST00000582303SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5UTR-5UTRENST00000410094ENST00000335793SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5UTR-5UTRENST00000410094ENST00000439510SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5UTR-5UTRENST00000410094ENST00000581014SDK2chr17

71361397

-CDC42EP4chr17

71282751

-
5UTR-intronENST00000410094ENST00000582303SDK2chr17

71361397

-CDC42EP4chr17

71282751

-

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FusionProtFeatures for SDK2_CDC42EP4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SDK2

Q58EX2

CDC42EP4

Q9H3Q1

Adhesion molecule that promotes lamina-specific synapticconnections in the retina and is specifically required for theformation of neuronal circuits that detect motion. Acts bypromoting formation of synapses between two specific retinal celltypes: the retinal ganglion cells W3B-RGCs and the excitatoryamacrine cells VG3-ACs. Formation of synapses between these twocells plays a key role in detection of motion. Promotes synapticconnectivity via homophilic interactions.{ECO:0000250|UniProtKB:Q6V4S5}. Probably involved in the organization of the actincytoskeleton. May act downstream of CDC42 to induce actin filamentassembly leading to cell shape changes. Induces pseudopodiaformation, when overexpressed in fibroblasts.

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 SDK2_CDC42EP4


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 SDK2_CDC42EP4


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
SDK2BRCA1, LGALS3, CEACAM21, SRPK2, CLU, TMEM30B, PCDHGB1, SIGLECL1, RAET1E, ADAM17, IL13RA2CDC42EP4WDR6, POLR3H, CDC42, ELAVL1, LNX1, APP, VCP, SRPK2, FAM9B, RTN4IP1, SEPT4, SEPT2, SEPT7, SEPT5, SEPT6, SEPT8, SEPT11, SEPT9, SEPT3, KLHL15, SEPT10, YBEY, FHL2, CDH1, SEPT14


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 SDK2_CDC42EP4


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 SDK2_CDC42EP4


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