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Fusion gene ID: 6365 |
FusionGeneSummary for CDC42EP2_CAPN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDC42EP2_CAPN1 | Fusion gene ID: 6365 | Hgene | Tgene | Gene symbol | CDC42EP2 | CAPN1 | Gene ID | 10435 | 823 |
| Gene name | CDC42 effector protein 2 | calpain 1 | |
| Synonyms | BORG1|CEP2 | CANP|CANP1|CANPL1|SPG76|muCANP|muCL | |
| Cytomap | 11q13.1 | 11q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cdc42 effector protein 2CDC42 effector protein (Rho GTPase binding) 2CRIB-containing BOGR1 proteinbinder of Rho GTPases 1 | calpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O14613 | P07384 | |
| Ensembl transtripts involved in fusion gene | ENST00000279249, ENST00000533419, ENST00000544348, | ENST00000533820, ENST00000533129, ENST00000524773, ENST00000279247, ENST00000527469, ENST00000527323, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 7 X 5 X 4=140 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(8/140*10)=-0.807354922057604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDC42EP2 [Title/Abstract] AND CAPN1 [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 |
| Hgene | CDC42EP2 | GO:0008360 | regulation of cell shape | 11035016 |
| Hgene | CDC42EP2 | GO:0030036 | actin cytoskeleton organization | 10430899 |
| Hgene | CDC42EP2 | GO:0030838 | positive regulation of actin filament polymerization | 11035016 |
| Hgene | CDC42EP2 | GO:0031274 | positive regulation of pseudopodium assembly | 11035016 |
| Tgene | CAPN1 | GO:0006508 | proteolysis | 2400579|2407243|16411745|21531719 |
| Tgene | CAPN1 | GO:0050790 | regulation of catalytic activity | 8954105|9271093 |
| Tgene | CAPN1 | GO:0097264 | self proteolysis | 8769305|8954105 |
| 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 | BRCA | TCGA-E2-A14P-01A | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| * 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 |
| 5UTR-3CDS | ENST00000279249 | ENST00000533820 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| 5UTR-3CDS | ENST00000279249 | ENST00000533129 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| 5UTR-3CDS | ENST00000279249 | ENST00000524773 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| 5UTR-3CDS | ENST00000279249 | ENST00000279247 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| 5UTR-intron | ENST00000279249 | ENST00000527469 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| 5UTR-intron | ENST00000279249 | ENST00000527323 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000533419 | ENST00000533820 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000533419 | ENST00000533129 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000533419 | ENST00000524773 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000533419 | ENST00000279247 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-intron | ENST00000533419 | ENST00000527469 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-intron | ENST00000533419 | ENST00000527323 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000544348 | ENST00000533820 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000544348 | ENST00000533129 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000544348 | ENST00000524773 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-3CDS | ENST00000544348 | ENST00000279247 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-intron | ENST00000544348 | ENST00000527469 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
| intron-intron | ENST00000544348 | ENST00000527323 | CDC42EP2 | chr11 | 65082425 | + | CAPN1 | chr11 | 64972154 | + |
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FusionProtFeatures for CDC42EP2_CAPN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDC42EP2 | CAPN1 |
| Probably involved in the organization of the actincytoskeleton. May act downstream of CDC42 to induce actin filamentassembly leading to cell shape changes. Induces pseudopodiaformation in fibroblasts in a CDC42-dependent manner.{ECO:0000269|PubMed:10490598, ECO:0000269|PubMed:11035016}. | Calcium-regulated non-lysosomal thiol-protease whichcatalyzes limited proteolysis of substrates involved incytoskeletal remodeling and signal transduction.{ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:2400579}. |
| 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 CDC42EP2_CAPN1 |
| 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 CDC42EP2_CAPN1 |
| 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 |
| CDC42EP2 | SEPT7, SEPT6, CDC42, RHOQ, SNCA, ARHGAP26, NME7 | CAPN1 | PSEN2, CAST, NFKBIA, FANCA, FANCC, PALB2, FANCG, GAS2, CLEC4G, RAD21, ARRB2, SIRT7, HIF1A, ECT2, FN1, VCAM1, ITGA4, PRMT5, SH3BGR, FHL2, TINAGL1, CREG1, ECHS1, NDUFB7, SLIT3, GPT, CTSC, PTGDS, AES, NFE2L1, ACTC1, MYBPC3, ACTN2, DES, COL1A1, VIM, SPTAN1, BAG3, STAT3, HNRNPD, ASS1, BZW2, BCCIP, CNDP2, EIF4E, EIF6, G6PD, GNS, LDHAL6B, PEPD, PFAS, SLC9A3R1, SMEK2, YWHAQ, CASP7, EEF2, GBP2, GINS2, GINS3, GLA, GLS, HSPA9, MVD, RAP1GDS1, RPS6KA1, TP53, NMT1, ATG5, LGALS3, KNG1, FNTB, CAPNS2, ATP6V1A, GSTO1, MAN2A1, EIF2A, HNRNPR, NIT1, SKIV2L2, SYNCRIP, NTRK1, CEP164, KATNA1, CAPNS1, COG1, POLA2, ANKRD17, CARS2, F2R, GRIN2B, FBXL12, MCM2, CD99L2, TRIP12, CD109, CAPN8, CAPN2, NEFM, RP9, NES, KTN1, FNTA, INA, TBC1D22B, ZIC1 |
| - 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 CDC42EP2_CAPN1 |
| 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 CDC42EP2_CAPN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CAPN1 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | CAPN1 | C0029134 | Optic Neuritis | 1 | CTD_human |
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