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Fusion gene ID: 12226 |
FusionGeneSummary for EVPL_SRP68 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EVPL_SRP68 | Fusion gene ID: 12226 | Hgene | Tgene | Gene symbol | EVPL | SRP68 | Gene ID | 2125 | 6730 |
| Gene name | envoplakin | signal recognition particle 68 | |
| Synonyms | EVPK | - | |
| Cytomap | 17q25.1 | 17q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | envoplakin210 kDa cornified envelope precursor protein210 kDa paraneoplastic pemphigus antigen | signal recognition particle subunit SRP68signal recognition particle 68 kDa proteinsignal recognition particle 68kDsignal recognition particle 68kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92817 | Q9UHB9 | |
| Ensembl transtripts involved in fusion gene | ENST00000301607, ENST00000586740, | ENST00000307877, ENST00000539137, ENST00000355113, ENST00000602720, ENST00000542536, | |
| Fusion gene scores | * DoF score | 4 X 5 X 5=100 | 10 X 10 X 9=900 |
| # samples | 6 | 15 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/900*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EVPL [Title/Abstract] AND SRP68 [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 | EVPL | GO:0018149 | peptide cross-linking | 10908733 |
| Hgene | EVPL | GO:0030216 | keratinocyte differentiation | 10908733 |
| Tgene | SRP68 | GO:0042493 | response to drug | 18089836 |
| 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 | CESC | TCGA-HM-A6W2-06A | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| TCGA | RV | OV | TCGA-04-1517-01A | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| TCGA | LD | OV | TCGA-23-1116-01A | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| * 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 |
| Frame-shift | ENST00000301607 | ENST00000307877 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-intron | ENST00000301607 | ENST00000539137 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-5UTR | ENST00000301607 | ENST00000355113 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-intron | ENST00000301607 | ENST00000602720 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-intron | ENST00000301607 | ENST00000542536 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| Frame-shift | ENST00000586740 | ENST00000307877 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-intron | ENST00000586740 | ENST00000539137 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-5UTR | ENST00000586740 | ENST00000355113 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-intron | ENST00000586740 | ENST00000602720 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| 5CDS-intron | ENST00000586740 | ENST00000542536 | EVPL | chr17 | 74023182 | - | SRP68 | chr17 | 74063411 | - |
| In-frame | ENST00000301607 | ENST00000307877 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000301607 | ENST00000539137 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000301607 | ENST00000355113 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000301607 | ENST00000602720 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| 5CDS-5UTR | ENST00000301607 | ENST00000542536 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000586740 | ENST00000307877 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000586740 | ENST00000539137 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000586740 | ENST00000355113 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000586740 | ENST00000602720 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| 5CDS-5UTR | ENST00000586740 | ENST00000542536 | EVPL | chr17 | 74019373 | - | SRP68 | chr17 | 74041467 | - |
| In-frame | ENST00000301607 | ENST00000307877 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| In-frame | ENST00000301607 | ENST00000539137 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| In-frame | ENST00000301607 | ENST00000355113 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| 5CDS-5UTR | ENST00000301607 | ENST00000602720 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| 5CDS-5UTR | ENST00000301607 | ENST00000542536 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| In-frame | ENST00000586740 | ENST00000307877 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| In-frame | ENST00000586740 | ENST00000539137 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| In-frame | ENST00000586740 | ENST00000355113 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| 5CDS-5UTR | ENST00000586740 | ENST00000602720 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
| 5CDS-5UTR | ENST00000586740 | ENST00000542536 | EVPL | chr17 | 74013820 | - | SRP68 | chr17 | 74046607 | - |
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FusionProtFeatures for EVPL_SRP68 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EVPL | SRP68 |
| Component of the cornified envelope of keratinocytes.May link the cornified envelope to desmosomes and intermediatefilaments. | Signal-recognition-particle assembly has a crucial rolein targeting secretory proteins to the rough endoplasmic reticulummembrane. SRP68 binds the 7S RNA, SRP72 binds to this complexsubsequently. This ribonucleoprotein complex might interactdirectly with the docking protein in the ER membrane and possiblyparticipate in the elongation arrest function. |
| 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 |
| Hgene | EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 413_470 | 570 | 2034 | Domain | SH3 |
| Hgene | EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 12_28 | 570 | 2034 | Region | Note=4 X 4 AA tandem repeats of K-G-S-P |
| Hgene | EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 12_28 | 160 | 2034 | Region | Note=4 X 4 AA tandem repeats of K-G-S-P |
| Hgene | EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 229_330 | 570 | 2034 | Repeat | Note=Spectrin |
| Tgene | >SRP68 | chr17:74013820 | chr17:74046607 | ENST00000602720 | - | 0 | 9 | 9_24 | -13 | 289 | Compositional bias | Note=Poly-Gly |
| - 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 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 845_1135 | 570 | 2034 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 845_1135 | 160 | 2034 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 413_470 | 160 | 2034 | Domain | SH3 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1674_2033 | 570 | 2034 | Region | Note=Globular 2 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1_841 | 570 | 2034 | Region | Note=Globular 1 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 842_1673 | 570 | 2034 | Region | Note=Central fibrous rod domain |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1674_2033 | 160 | 2034 | Region | Note=Globular 2 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1_841 | 160 | 2034 | Region | Note=Globular 1 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 842_1673 | 160 | 2034 | Region | Note=Central fibrous rod domain |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1185_1226 | 570 | 2034 | Repeat | Note=Plectin 1 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1678_1713 | 570 | 2034 | Repeat | Note=Plectin 2 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1818_1855 | 570 | 2034 | Repeat | Note=Plectin 3 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1856_1893 | 570 | 2034 | Repeat | Note=Plectin 4 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1894_1931 | 570 | 2034 | Repeat | Note=Plectin 5 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1932_1969 | 570 | 2034 | Repeat | Note=Plectin 6 |
| Hgene | >EVPL | chr17:74013820 | chr17:74046607 | ENST00000301607 | - | 14 | 22 | 1970_2007 | 570 | 2034 | Repeat | Note=Plectin 7 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1185_1226 | 160 | 2034 | Repeat | Note=Plectin 1 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1678_1713 | 160 | 2034 | Repeat | Note=Plectin 2 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1818_1855 | 160 | 2034 | Repeat | Note=Plectin 3 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1856_1893 | 160 | 2034 | Repeat | Note=Plectin 4 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1894_1931 | 160 | 2034 | Repeat | Note=Plectin 5 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1932_1969 | 160 | 2034 | Repeat | Note=Plectin 6 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 1970_2007 | 160 | 2034 | Repeat | Note=Plectin 7 |
| Hgene | >EVPL | chr17:74019373 | chr17:74041467 | ENST00000301607 | - | 4 | 22 | 229_330 | 160 | 2034 | Repeat | Note=Spectrin |
| Tgene | SRP68 | chr17:74013820 | chr17:74046607 | ENST00000307877 | - | 7 | 16 | 9_24 | 326 | 628 | Compositional bias | Note=Poly-Gly |
| Tgene | SRP68 | chr17:74013820 | chr17:74046607 | ENST00000539137 | - | 6 | 15 | 9_24 | 288 | 590 | Compositional bias | Note=Poly-Gly |
| Tgene | SRP68 | chr17:74019373 | chr17:74041467 | ENST00000307877 | - | 10 | 16 | 9_24 | 433 | 628 | Compositional bias | Note=Poly-Gly |
| Tgene | SRP68 | chr17:74019373 | chr17:74041467 | ENST00000539137 | - | 9 | 15 | 9_24 | 395 | 590 | Compositional bias | Note=Poly-Gly |
| Tgene | SRP68 | chr17:74019373 | chr17:74041467 | ENST00000602720 | - | 3 | 9 | 9_24 | 94 | 289 | Compositional bias | Note=Poly-Gly |
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FusionGeneSequence for EVPL_SRP68 |
| 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 EVPL_SRP68 |
| 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 |
| EVPL | PPL, PLEKHA5, DSP, ACIN1, RPL27, KRT14, SLC25A17, SUSD3, DDX19B, UGT1A10, ZSCAN20, RBM24, CDA, DROSHA, P4HA1, TSNAX, CDH1, FCF1, CDK15, PDE4DIP, TBC1D22B, FRMD1, CCNYL1, ITGA9, ACAD9, PI4KA, ZSCAN12 | SRP68 | USP7, MEPCE, RNF185, HDGF, SIRT7, CUL3, CAND1, SRP72, KIF5B, SRP9, SRP54, SMN1, METTL18, SOX2, KIF21A, ELP4, KDM3B, NCS1, STAU1, RNF2, NIFK, RPL31, ALDH1B1, ATAD3B, DDX27, FTSJ3, SRP14, NTRK1, IFI16, MED4, XPO1, NOP56, GBA2, MCM2, SNW1, CDC5L, ZNF746, SRP19, FZR1, GIMAP8, RBM34, EPB41L2, AXDND1, RPL26L1, CDC27, KIAA0020, RPL18A, GTPBP4, NOP2, CEBPZ, MYBBP1A, RBM28, RPL3, EBNA1BP2, DDX31, SF3A3, PA2G4, TRAP1, SND1, UBE2N, DLST, PDHA1, UBE2S, BRCA1, TES |
| - 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 EVPL_SRP68 |
| 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 EVPL_SRP68 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SRP68 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Tgene | SRP68 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Tgene | SRP68 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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