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Fusion gene ID: 42392 |
FusionGeneSummary for YWHAE_ERCC8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: YWHAE_ERCC8 | Fusion gene ID: 42392 | Hgene | Tgene | Gene symbol | YWHAE | ERCC8 | Gene ID | 7531 | 1161 |
| Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | |
| Synonyms | 14-3-3E|HEL2|KCIP-1|MDCR|MDS | CKN1|CSA|UVSS2 | |
| Cytomap | 17p13.3 | 5q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine | DNA excision repair protein ERCC-8Cockayne syndrome WD-repeat protein CSAcockayne syndrome WD repeat protein CSAexcision repair cross-complementation group 8excision repair cross-complementing rodent repair deficiency, complementation group 8 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | P62258 | Q13216 | |
| Ensembl transtripts involved in fusion gene | ENST00000264335, ENST00000571732, ENST00000573026, ENST00000575977, ENST00000498643, | ENST00000426742, ENST00000265038, ENST00000462279, ENST00000543101, | |
| Fusion gene scores | * DoF score | 15 X 4 X 8=480 | 4 X 4 X 5=80 |
| # samples | 15 | 6 | |
| ** MAII score | log2(15/480*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: YWHAE [Title/Abstract] AND ERCC8 [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 | YWHAE | GO:0000165 | MAPK cascade | 12917326 |
| Hgene | YWHAE | GO:0034605 | cellular response to heat | 12917326 |
| Hgene | YWHAE | GO:0046827 | positive regulation of protein export from nucleus | 12917326 |
| Hgene | YWHAE | GO:0051480 | regulation of cytosolic calcium ion concentration | 18029012 |
| Hgene | YWHAE | GO:0060306 | regulation of membrane repolarization | 11953308 |
| Hgene | YWHAE | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 11953308 |
| Hgene | YWHAE | GO:1901020 | negative regulation of calcium ion transmembrane transporter activity | 18029012 |
| Hgene | YWHAE | GO:1902309 | negative regulation of peptidyl-serine dephosphorylation | 11953308 |
| Hgene | YWHAE | GO:1905913 | negative regulation of calcium ion export across plasma membrane | 18029012 |
| Tgene | ERCC8 | GO:0000209 | protein polyubiquitination | 12732143 |
| Tgene | ERCC8 | GO:0006283 | transcription-coupled nucleotide-excision repair | 12732143 |
| Tgene | ERCC8 | GO:0006974 | cellular response to DNA damage stimulus | 11782547 |
| Tgene | ERCC8 | GO:0006979 | response to oxidative stress | 11782547 |
| Tgene | ERCC8 | GO:0009411 | response to UV | 12732143 |
| Tgene | ERCC8 | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 16751180 |
| Tgene | ERCC8 | GO:0051865 | protein autoubiquitination | 12732143 |
| 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 | COAD | TCGA-CM-5348-01A | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| * 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 | ENST00000264335 | ENST00000426742 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000264335 | ENST00000265038 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-intron | ENST00000264335 | ENST00000462279 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000264335 | ENST00000543101 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-5UTR | ENST00000571732 | ENST00000426742 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-5UTR | ENST00000571732 | ENST00000265038 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-intron | ENST00000571732 | ENST00000462279 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-5UTR | ENST00000571732 | ENST00000543101 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000573026 | ENST00000426742 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000573026 | ENST00000265038 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-intron | ENST00000573026 | ENST00000462279 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000573026 | ENST00000543101 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000575977 | ENST00000426742 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000575977 | ENST00000265038 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-intron | ENST00000575977 | ENST00000462279 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5CDS-5UTR | ENST00000575977 | ENST00000543101 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-5UTR | ENST00000498643 | ENST00000426742 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-5UTR | ENST00000498643 | ENST00000265038 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-intron | ENST00000498643 | ENST00000462279 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
| 5UTR-5UTR | ENST00000498643 | ENST00000543101 | YWHAE | chr17 | 1303341 | - | ERCC8 | chr5 | 60224786 | - |
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FusionProtFeatures for YWHAE_ERCC8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| YWHAE | ERCC8 |
| Substrate-recognition component of the CSA complex, aDCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex,involved in transcription-coupled nucleotide excision repair. TheCSA complex (DCX(ERCC8) complex) promotes the ubiquitination andsubsequent proteasomal degradation of ERCC6 in a UV-dependentmanner; ERCC6 degradation is essential for the recovery of RNAsynthesis after transcription-coupled repair. It is required forthe recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blockinglesions from the transcribed strand of active genes.{ECO:0000269|PubMed:16751180, ECO:0000269|PubMed:16916636,ECO:0000269|PubMed:16964240}. |
| 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 YWHAE_ERCC8 |
| 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 YWHAE_ERCC8 |
| 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 |
| YWHAE | IGF1R, GPRIN2, SORBS2, GRAP2, MAPK7, NDEL1, HDAC4, HDAC5, REM1, BAD, MAP3K10, CDC25C, MAP3K3, MAP3K1, MAP3K2, IRS1, NGFRAP1, SYN2, KCNH2, TNFAIP3, RAF1, CDC25B, TOP2A, TGFB1, CDC25A, USP43, POLR3H, HDAC7, MDM4, FOXO3, HIVEP2, LRMP, COX2, MYH10, PNLIP, SSFA2, YWHAB, YWHAZ, YWHAG, ARAF, YWHAH, HDAC9, KIAA0232, TLK1, CHAF1A, CAP2, YWHAQ, RAP1GAP2, SH3BP4, WWTR1, FAM13B, MSL2, ZNF839, RASAL3, WNK1, ENKD1, TBC1D3F, CGNL1, CEP95, ANKHD1-EIF4EBP3, ING1, SRRM2, FAN1, EMD, SAMSN1, EXO1, H2AFX, MYC, PRKAA1, PARD6G, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, DISC1, UBE3A, GAPDH, KAT8, HIST1H3A, HIST1H4A, TCEB3, BRD4, CALM1, FBXO4, CDKN1B, TRAT1, RARRES3, ARRB1, ARRB2, CBL, ACD, POT1, CUL3, CDK2, CUL1, DCUN1D1, NEDD8, PTPN14, MARK3, MARK2, MEX3B, LRRK2, AKT1, ACTA2, CBX3, HNF1A, HSP90AB1, NPM1, ATP5B, ATP5A1, STOML2, CLNS1A, IPO8, KPNB1, RPLP0, RPL6, RPL4, RPS3, RPS8, DNAJA1, EIF4B, EIF3E, EEF1G, EEF1A2, HNRNPA2B1, ILF2, RUVBL2, RCN2, TUBB, TUBB4B, TUBB2B, PRPSAP1, TUBA3E, DDX21, ADH1B, ADH4, AGXT, HIST2H4B, HNRNPA3, HNRNPC, RBMY1A1, SF3B1, PCBP1, RBM10, MAP3K7, TBK1, PPM1B, SPIN1, CDC37, PHB, PRPSAP2, PRPS1, QPCTL, TMPO, C11orf84, HDX, CFAP43, VCP, ATXN1, FN1, VCAM1, BRAF, MAP2K1, PARD3, KIF5B, KLC2, LMO7, TBC1D4, HSPA1A, KLC3, KLC4, KLC1, CLASP2, LIMA1, TSC2, CLASP1, HSPA8, PAK4, RAB11FIP2, MAST3, TBC1D1, KIF1C, OSBPL3, TIAM1, ABLIM1, LARP1, BAIAP2, IRS2, SHROOM2, LSR, KIF1B, RAB11FIP1, MLLT4, MAST2, PFKFB2, CDK18, PKP2, DENND4A, TP53BP2, CGN, ZFP36L2, TUBA1A, KSR1, RABEP1, EIF4E2, CSNK1A1, PDZD11, PRKCI, DCAF7, NADK, USP8, C1QBP, TSC1, REEP1, KIF23, SLC25A6, SRGAP2, FAM53C, TRIP11, BCAR1, CRTC1, RASSF8, CEP250, VAMP8, GRB2, TRIM32, NOS2, IL7R, UBL4A, ITGA4, CBX4, ABL1, MST1R, PAN2, RAD52, BAG3, GSTA1, FTH1, CDK11B, SRSF1, SRSF6, SRSF4, NOLC1, TRA2B, PLEKHO2, HMHA1, SRSF7, NCBP1, DOK3, VASP, KIAA0930, GAB2, KIAA0226, PIK3R4, SGK223, RCHY1, IGHG1, UVRAG, SRSF2, FBXO6, RASSF2, SAV1, YAP1, PARK2, PAFAH1B2, PPP1R2, PROSC, RAP1GDS1, TMOD3, TNFAIP8, TUBB2A, UBXN1, VCL, XPO1, ALDH7A1, ASNS, ATIC, CAPN2, CAPNS1, EIF5, FERMT2, G6PD, GSS, ISOC1, MCTS1, STK26, OGFOD1, PAK2, PDHB, PDIA4, PTMA, SCPEP1, TBCB, TWF2, UBE2R2, IRS4, SIK3, SIK2, CEP57, TP53, GRB10, DTL, HUWE1, FBXW11, CUL7, OBSL1, CCDC8, MAST1, CDK16, TNK1, BTRC, NKD2, DMTN, TEX33, EPB41L3, WWC1, HNRNPA1, HSPB1, UNK, ACAT2, CALR, CENPE, MACF1, MAPK14, MCFD2, POLR2D, PSMB2, SHMT2, SNRPD1, ACTR6, HNRNPL, NPM3, PGK1, PSMC1, ZPR1, NTRK1, LCA5, CENPJ, PRICKLE3, MYH11, TSNAX, CCDC88A, CRY1, CRY2, MCM2, CDC5L, ERRFI1, U2AF2, PRDX6, NFATC2, SNF8, ANKZF1, SMAGP, TCEANC, LCP2, METAP2, MAGEB4, CHST11, ZC3HC1, MCM10, DDX54, C8orf59, NAF1, FGF12, GSTM3, STAC, FAM64A, ATP6V0B, FLJ25758, CDC73, WWP2, CDH1, CEP131, PCM1, PPM1H, PTPN3, SSH1, TENC1, SMTNL2, PLEKHG5, SAMD4A, SPATA13, RIN1, TFEB, TESPA1, SAMD4B, FAM163A, CRTC2, FAM189A2, PAK6, RBM3, RAB3IP, CBY1, CEP170, INPP5E, CYLD, COX15, DLD, DLST, DNM1L, SDHA, SOAT1, VDAC1, TRIM25, BRCA1, BRD1, BRMS1 | ERCC8 | XAB2, COPS5, COPS6, DDB1, ERCC6, CSNK2B, POLR2A, EP300, HMGN1, DDB2, CUL4A, GPS1, RBX1, COPS2, COPS3, COPS4, COPS7A, COPS8, CUL4B, CUL5, GTF2H2, TP53, MDM2, OGG1, SSBP1, DDA1, RFWD2, TOP1, ZNF24, RUVBL2, UVSSA, PCNA, H1F0, VCP, UBXN7, PCGF1, DPPA4, BCOR, NANOG, POU5F1, PFDN4, TRIM25 |
| - 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 YWHAE_ERCC8 |
| 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 YWHAE_ERCC8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | YWHAE | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | YWHAE | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | YWHAE | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | ERCC8 | C0751039 | Cockayne Syndrome, Type I | 3 | ORPHANET;UNIPROT |
| Tgene | ERCC8 | C0009207 | Cockayne Syndrome | 2 | CTD_human |
| Tgene | ERCC8 | C3553298 | UV-SENSITIVE SYNDROME 2 | 1 | UNIPROT |
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