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Fusion gene ID: 32992 |
FusionGeneSummary for SDK2_CDC42EP4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SDK2_CDC42EP4 | Fusion gene ID: 32992 | Hgene | Tgene | Gene symbol | SDK2 | CDC42EP4 | Gene ID | 54549 | 23580 |
Gene name | sidekick cell adhesion molecule 2 | CDC42 effector protein 4 | |
Synonyms | - | BORG4|CEP4|KAIA1777 | |
Cytomap | 17q25.1 | 17q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | protein sidekick-2sidekick homolog 2 | cdc42 effector protein 4CDC42 effector protein (Rho GTPase binding) 4binder of Rho GTPases 4 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q58EX2 | Q9H3Q1 | |
Ensembl transtripts involved in fusion gene | ENST00000392650, ENST00000388726, ENST00000410094, | ENST00000335793, ENST00000439510, ENST00000581014, ENST00000582303, | |
Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 6 X 2 X 7=84 |
# samples | 4 | 8 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CDC42EP4 | GO:0008360 | regulation of cell shape | 11035016 |
Tgene | CDC42EP4 | GO:0031274 | positive regulation of pseudopodium assembly | 11035016 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | HNSC | TCGA-D6-6826-01A | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000392650 | ENST00000335793 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-5UTR | ENST00000392650 | ENST00000439510 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-5UTR | ENST00000392650 | ENST00000581014 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-intron | ENST00000392650 | ENST00000582303 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-5UTR | ENST00000388726 | ENST00000335793 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-5UTR | ENST00000388726 | ENST00000439510 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-5UTR | ENST00000388726 | ENST00000581014 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5CDS-intron | ENST00000388726 | ENST00000582303 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5UTR-5UTR | ENST00000410094 | ENST00000335793 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5UTR-5UTR | ENST00000410094 | ENST00000439510 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5UTR-5UTR | ENST00000410094 | ENST00000581014 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
5UTR-intron | ENST00000410094 | ENST00000582303 | SDK2 | chr17 | 71361397 | - | CDC42EP4 | chr17 | 71282751 | - |
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FusionProtFeatures for SDK2_CDC42EP4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SDK2 | CDC42EP4 |
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. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SDK2_CDC42EP4 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SDK2 | BRCA1, LGALS3, CEACAM21, SRPK2, CLU, TMEM30B, PCDHGB1, SIGLECL1, RAET1E, ADAM17, IL13RA2 | CDC42EP4 | WDR6, POLR3H, CDC42, ELAVL1, LNX1, APP, VCP, SRPK2, FAM9B, RTN4IP1, SEPT4, SEPT2, SEPT7, SEPT5, SEPT6, SEPT8, SEPT11, SEPT9, SEPT3, KLHL15, SEPT10, YBEY, FHL2, CDH1, SEPT14 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SDK2_CDC42EP4 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SDK2_CDC42EP4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |