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Fusion gene ID: 11730 |
FusionGeneSummary for EPB41L1_RBBP8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPB41L1_RBBP8 | Fusion gene ID: 11730 | Hgene | Tgene | Gene symbol | EPB41L1 | RBBP8 | Gene ID | 2036 | 5932 |
| Gene name | erythrocyte membrane protein band 4.1 like 1 | RB binding protein 8, endonuclease | |
| Synonyms | 4.1N|MRD11 | COM1|CTIP|JWDS|RIM|SAE2|SCKL2 | |
| Cytomap | 20q11.23 | 18q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | band 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1 | DNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H4G0 | Q99708 | |
| Ensembl transtripts involved in fusion gene | ENST00000202028, ENST00000373950, ENST00000441639, ENST00000373946, ENST00000338074, ENST00000373941, ENST00000479336, | ENST00000327155, ENST00000399722, ENST00000399725, ENST00000360790, ENST00000581687, | |
| Fusion gene scores | * DoF score | 18 X 13 X 11=2574 | 8 X 8 X 5=320 |
| # samples | 23 | 11 | |
| ** MAII score | log2(23/2574*10)=-3.48430628727633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/320*10)=-1.5405683813627 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EPB41L1 [Title/Abstract] AND RBBP8 [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 | RBBP8 | GO:0000724 | double-strand break repair via homologous recombination | 20829486 |
| 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 | BLCA | TCGA-E7-A6MD-01A | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| * 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 | ENST00000202028 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000202028 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000202028 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000202028 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000202028 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373950 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373950 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373950 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373950 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373950 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000441639 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000441639 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000441639 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000441639 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000441639 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373946 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373946 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373946 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373946 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373946 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000338074 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000338074 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000338074 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000338074 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000338074 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373941 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373941 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373941 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373941 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| 5CDS-intron | ENST00000373941 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| intron-intron | ENST00000479336 | ENST00000327155 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| intron-intron | ENST00000479336 | ENST00000399722 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| intron-intron | ENST00000479336 | ENST00000399725 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| intron-intron | ENST00000479336 | ENST00000360790 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
| intron-intron | ENST00000479336 | ENST00000581687 | EPB41L1 | chr20 | 34766594 | + | RBBP8 | chr18 | 20491563 | + |
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FusionProtFeatures for EPB41L1_RBBP8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPB41L1 | RBBP8 |
| Endonuclease that cooperates with the MRE11-RAD50-NBN(MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination(HR) pathway. HR is restricted to S and G2 phases of the cellcycle and preferentially repairs DSBs resulting from replicationfork collapse. Key determinant of DSB repair pathway choice, as itcommits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM,promotes ATR activation and its recruitment to DSBs in the S/G2phase facilitating the generation of ssDNA. Component of theBRCA1-RBBP8 complex that regulates CHEK1 activation and controlscell cycle G2/M checkpoints on DNA damage (PubMed:10764811,PubMed:10910365, PubMed:15485915, PubMed:16581787,PubMed:16818604, PubMed:17965729, PubMed:19202191,PubMed:19759395, PubMed:20064462, PubMed:20829486). Duringimmunoglobulin heavy chain class-switch recombination, promotesmicrohomology-mediated alternative end joining (A-NHEJ) and playsan essential role in chromosomal translocations (By similarity).{ECO:0000250|UniProtKB:Q80YR6, ECO:0000269|PubMed:10764811,ECO:0000269|PubMed:10910365, ECO:0000269|PubMed:15485915,ECO:0000269|PubMed:16581787, ECO:0000269|PubMed:16818604,ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:19202191,ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:20064462,ECO:0000269|PubMed:20829486}. |
| 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 EPB41L1_RBBP8 |
| 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 EPB41L1_RBBP8 |
| 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 |
| EPB41L1 | NUMA1, STARD13, ITPR1, SDC2, DRD2, DRD3, GRIA1, AGAP2, ELAVL1, TERF1, POT1, APP, NOP16, HNRNPUL1, SRPK2, ACACA, CAST, COPS3, COPS4, COPS5, COPS2, COPS7A, GCN1L1, INPPL1, NUP50, POLA2, POP7, RPP30, KIF5B, PSMA4, PSMA5, PSMB3, PSMB4, PSMB5, PSMB7, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, DDAH2, EIF3I, EPB41L3, HSPB1, TMEM17, BRD2, CDH1, PTPRA, EPB41L2, MISP, PRICKLE3, ISG20 | RBBP8 | RBL1, LMO4, LIMS1, HID1, FXR2, PIN1, WDYHV1, ATM, BRCA1, CTBP1, RBBP8, RB1, PRKDC, SIAH1, SIAH2, IKZF1, RBL2, BARD1, RAD50, SPEN, PALB2, UIMC1, ZNF350, NBN, PCNA, CTBP2, EEF1A1, CLU, IGFBP7, RAF1, MAP2K4, IKBKG, RGS17, PRRG4, TMEM54, MDM2, LMO1, FZR1, MRE11A, FANCD2, PLK1, THOC2, KIF7, USP4, DNA2, EXD2, EXO1, BRIX1, DEFA1, XRCC1, SCOC, ERP44, UBC, KLHL15, CUL3, POLN |
| - 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 EPB41L1_RBBP8 |
| 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 EPB41L1_RBBP8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EPB41L1 | C3280285 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 | 1 | UNIPROT |
| Tgene | RBBP8 | C1847572 | SECKEL SYNDROME 2 | 1 | UNIPROT |
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