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Fusion gene ID: 11860 |
FusionGeneSummary for EPS15L1_ZNF675 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPS15L1_ZNF675 | Fusion gene ID: 11860 | Hgene | Tgene | Gene symbol | EPS15L1 | ZNF675 | Gene ID | 58513 | 171392 |
| Gene name | epidermal growth factor receptor pathway substrate 15 like 1 | zinc finger protein 675 | |
| Synonyms | EPS15R | TBZF|TIZ | |
| Cytomap | 19p13.11 | 19p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | epidermal growth factor receptor substrate 15-like 1epidermal growth factor receptor substrate EPS15Reps15-related protein | zinc finger protein 675TRAF6 inhibitory zinc fingerTRAF6-binding zinc finger proteinTRAF6-inhibitory zinc finger protein | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q9UBC2 | Q8TD23 | |
| Ensembl transtripts involved in fusion gene | ENST00000455140, ENST00000248070, ENST00000535753, ENST00000594975, ENST00000602009, ENST00000597937, | ENST00000601935, ENST00000600313, ENST00000596211, ENST00000359788, ENST00000601010, ENST00000599168, | |
| Fusion gene scores | * DoF score | 15 X 11 X 10=1650 | 3 X 2 X 3=18 |
| # samples | 18 | 3 | |
| ** MAII score | log2(18/1650*10)=-3.1963972128035 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EPS15L1 [Title/Abstract] AND ZNF675 [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 | ZNF675 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11751921 |
| Tgene | ZNF675 | GO:0007249 | I-kappaB kinase/NF-kappaB signaling | 11751921 |
| Tgene | ZNF675 | GO:0010804 | negative regulation of tumor necrosis factor-mediated signaling pathway | 11751921 |
| Tgene | ZNF675 | GO:0019221 | cytokine-mediated signaling pathway | 11751921 |
| Tgene | ZNF675 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 11751921 |
| Tgene | ZNF675 | GO:0043508 | negative regulation of JUN kinase activity | 11751921 |
| Tgene | ZNF675 | GO:0045671 | negative regulation of osteoclast differentiation | 11751921|11851921 |
| Tgene | ZNF675 | GO:0046329 | negative regulation of JNK cascade | 11751921 |
| Tgene | ZNF675 | GO:2000660 | negative regulation of interleukin-1-mediated signaling pathway | 11751921 |
| Tgene | ZNF675 | GO:2000678 | negative regulation of transcription regulatory region DNA binding | 11751921 |
| 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-B6-A0RL-01A | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| * 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-intron | ENST00000455140 | ENST00000601935 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000455140 | ENST00000600313 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000455140 | ENST00000596211 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000455140 | ENST00000359788 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000455140 | ENST00000601010 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000455140 | ENST00000599168 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000248070 | ENST00000601935 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000248070 | ENST00000600313 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000248070 | ENST00000596211 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000248070 | ENST00000359788 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000248070 | ENST00000601010 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000248070 | ENST00000599168 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000535753 | ENST00000601935 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000535753 | ENST00000600313 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000535753 | ENST00000596211 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000535753 | ENST00000359788 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000535753 | ENST00000601010 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000535753 | ENST00000599168 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000594975 | ENST00000601935 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000594975 | ENST00000600313 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000594975 | ENST00000596211 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000594975 | ENST00000359788 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000594975 | ENST00000601010 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000594975 | ENST00000599168 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000602009 | ENST00000601935 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000602009 | ENST00000600313 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000602009 | ENST00000596211 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000602009 | ENST00000359788 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000602009 | ENST00000601010 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000602009 | ENST00000599168 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000597937 | ENST00000601935 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000597937 | ENST00000600313 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000597937 | ENST00000596211 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000597937 | ENST00000359788 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000597937 | ENST00000601010 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
| 5CDS-intron | ENST00000597937 | ENST00000599168 | EPS15L1 | chr19 | 16524584 | - | ZNF675 | chr19 | 23757034 | - |
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FusionProtFeatures for EPS15L1_ZNF675 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPS15L1 | ZNF675 |
| Seems to be a constitutive component of clathrin-coatedpits that is required for receptor-mediated endocytosis. Involvedin endocytosis of integrin beta-1 (ITGB1) and transferrin receptor(TFR); internalization of ITGB1 as DAB2-dependent cargo but notTFR seems to require association with DAB2.{ECO:0000269|PubMed:22648170, ECO:0000269|PubMed:9407958}. | May be involved in transcriptional regulation. May playa role during osteoclast differentiation by modulating TRAF6signaling activity. |
| 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 EPS15L1_ZNF675 |
| 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 EPS15L1_ZNF675 |
| 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 |
| EPS15L1 | AGFG1, STON2, EPN1, ITSN1, ITSN2, UBQLN1, GRB2, BIRC6, GBF1, NCAPG, PRPF4, ZZEF1, AP2M1, GNG5, TRAPPC2B, MOV10, NXF1, AGFG2, SPC25, NTRK1, MED4, XPO1, PLK1, KIAA1107, CDH1, AP2S1, RUNDC3A, LSR, FCHO1, NCKIPSD, CDR2, AURKA, UBC, DCAF7, USP15, SPAG9, MCM2, MCM4, MCM6, IVNS1ABP, GTF3C4, SMC1A, GAPVD1, ANK3, SBNO1, SMC3, CDK11A, SOX4, HSF1, TRIM25, TXNIP | ZNF675 | TRAF6, TNFSF11, IL1B, LMO4 |
| - 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 EPS15L1_ZNF675 |
| 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 EPS15L1_ZNF675 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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