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Fusion gene ID: 11881 |
FusionGeneSummary for EPS8_PLEKHA5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPS8_PLEKHA5 | Fusion gene ID: 11881 | Hgene | Tgene | Gene symbol | EPS8 | PLEKHA5 | Gene ID | 2059 | 54477 |
| Gene name | epidermal growth factor receptor pathway substrate 8 | pleckstrin homology domain containing A5 | |
| Synonyms | DFNB102 | PEPP-2|PEPP2 | |
| Cytomap | 12p12.3 | 12p12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epidermal growth factor receptor kinase substrate 8 | pleckstrin homology domain-containing family A member 5PH domain-containing family A member 5phosphoinositol 3-phosphate-binding protein-2pleckstrin homology domain containing, family A member 5 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q12929 | Q9HAU0 | |
| Ensembl transtripts involved in fusion gene | ENST00000543523, ENST00000281172, ENST00000543612, ENST00000540613, ENST00000542903, | ENST00000309364, ENST00000359180, ENST00000317589, ENST00000355397, ENST00000429027, ENST00000539256, ENST00000299275, ENST00000538714, ENST00000543806, ENST00000424268, ENST00000540972, ENST00000510738, | |
| Fusion gene scores | * DoF score | 10 X 4 X 6=240 | 21 X 8 X 13=2184 |
| # samples | 10 | 22 | |
| ** MAII score | log2(10/240*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2184*10)=-3.31139742739519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPS8 [Title/Abstract] AND PLEKHA5 [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 |
| 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 | RV | OV | TCGA-61-2102-01A | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| * 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-intron | ENST00000543523 | ENST00000309364 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000359180 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000317589 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000355397 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000429027 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000539256 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000299275 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000538714 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000543806 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000424268 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000540972 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000543523 | ENST00000510738 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000309364 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000359180 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000317589 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000355397 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000429027 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000539256 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000299275 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000538714 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000543806 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000424268 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000540972 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| 5UTR-intron | ENST00000281172 | ENST00000510738 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000309364 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000359180 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000317589 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000355397 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000429027 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000539256 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000299275 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000538714 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000543806 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000424268 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000540972 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000543612 | ENST00000510738 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000309364 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000359180 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000317589 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000355397 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000429027 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000539256 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000299275 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000538714 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000543806 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000424268 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000540972 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000540613 | ENST00000510738 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000309364 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000359180 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000317589 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000355397 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000429027 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000539256 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000299275 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000538714 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000543806 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000424268 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000540972 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
| intron-intron | ENST00000542903 | ENST00000510738 | EPS8 | chr12 | 15942095 | - | PLEKHA5 | chr12 | 19489449 | + |
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FusionProtFeatures for EPS8_PLEKHA5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPS8 | PLEKHA5 |
| Signaling adapter that controls various cellularprotrusions by regulating actin cytoskeleton dynamics andarchitecture. Depending on its association with other signaltransducers, can regulate different processes. Together with SOS1and ABI1, forms a trimeric complex that participates intransduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Actsas a direct regulator of actin dynamics by binding actin filamentsand has both barbed-end actin filament capping and actin bundlingactivities depending on the context. Displays barbed-end actincapping activity when associated with ABI1, thereby regulatingactin-based motility process: capping activity is auto-inhibitedand inhibition is relieved upon ABI1 interaction. Also shows actinbundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodialprotrusions. Involved in the regulation of processes such asaxonal filopodia growth, stereocilia length, dendritic cellmigration and cancer cell migration and invasion. Acts as aregulator of axonal filopodia formation in neurons: in the absenceof neurotrophic factors, negatively regulates axonal filopodiaformation via actin-capping activity. In contrast, it isphosphorylated in the presence of BDNF leading to inhibition ofits actin-capping activity and stimulation of filopodia formation.Component of a complex with WHRN and MYO15A that localizes atstereocilia tips and is required for elongation of the stereociliaactin core. Indirectly involved in cell cycle progression; itsdegradation following ubiquitination being required during G2phase to promote cell shape changes. {ECO:0000269|PubMed:15558031,ECO:0000269|PubMed:17115031}. |
| 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 EPS8_PLEKHA5 |
| 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 EPS8_PLEKHA5 |
| 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 |
| EPS8 | DVL1, BLOC1S6, CCDC85B, AIMP2, PCM1, HOOK2, TEX28, BAIAP2, EPS8, ABI1, SOS1, DNALI1, MRPL20, MYO15A, SHC1, SRC, SHB, MAP1LC3B, C8orf33, EGFR, MDC1, CFTR, SOX2, ALDH7A1, CTNNA3, CSNK2B, SLC27A4, TDP2, XRCC6, CXCL2, MAP3K11, NFKB2, RFXAP, BCKDK, SF3B3, ZZZ3, GULP1, ADAM22, ARMC1, SCRN3, NACC2, PROSER2, TPRN, ANKRD28, BAIAP2L1, BYSL, RUNX1T1, GRB2, HNRNPC, SMARCE1, INPP5J, C17orf59, C19orf25, GOLGA8EP, XAGE2, CBL, C6orf141, RCAN3, RSPH14, SERPINA5, AMPD2, FGL1 | PLEKHA5 | DES, EVPL, EXTL3, KRT19, KTN1, LAMB2, PLEC, SPTAN1, SPTBN1, PROM1, CEP350, KIF3A, CEP250, PLEKHA6, ARHGEF9, PPP1R13B, BLOC1S6, KRT20, MAX, PLEKHA5, CCDC186, CCDC92, SH3BP5L, CCDC88B, KANSL1, SOGA1, WASH2P, ELAVL1, SH3KBP1, LSM4, UPF1, LATS2, YWHAB, CIAO1, AURKB, PDZD11, FHL3, GINM1, SRPK2, KIAA0753, SPICE1, DCTN1, DYNLT1, POC1A, TMEM17, XPO1, CLTC, HIF1A, KIF11, PPP2CB, PPP2R1A, SEC16A, CDH1, SSSCA1, IL17RA, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, SRSF12, SYDE1, AGAP1, MAST3, RTKN, PPM1H, CDC25B, CDK16, CBY1, RAB3IP |
| - 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 EPS8_PLEKHA5 |
| 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 EPS8_PLEKHA5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EPS8 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
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