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Fusion gene ID: 11766 |
FusionGeneSummary for EPB41_POLR2L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EPB41_POLR2L | Fusion gene ID: 11766 | Hgene | Tgene | Gene symbol | EPB41 | POLR2L | Gene ID | 2035 | 5441 |
| Gene name | erythrocyte membrane protein band 4.1 | RNA polymerase II subunit L | |
| Synonyms | 4.1R|EL1|HE | RBP10|RPABC5|RPB10|RPB10beta|RPB7.6|hRPB7.6 | |
| Cytomap | 1p35.3 | 11p15.5 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein 4.1EPB4.1P4.1band 4.1elliptocytosis 1, RH-linkederythrocyte surface protein band 4.1 | DNA-directed RNA polymerases I, II, and III subunit RPABC5DNA-directed RNA polymerase III subunit LRNA polymerase II 7.6 kDa subunitRNA polymerases I, II, and III subunit ABC5RPB10 homologpolymerase (RNA) II (DNA directed) polypeptide L, 7.6kDapolym | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P11171 | P62875 | |
| Ensembl transtripts involved in fusion gene | ENST00000356093, ENST00000398863, ENST00000343067, ENST00000349460, ENST00000373800, ENST00000347529, ENST00000373798, ENST00000373797, ENST00000460378, | ENST00000322028, | |
| Fusion gene scores | * DoF score | 14 X 12 X 9=1512 | 2 X 1 X 2=4 |
| # samples | 16 | 2 | |
| ** MAII score | log2(16/1512*10)=-3.24031432933371 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: EPB41 [Title/Abstract] AND POLR2L [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 | EPB41 | GO:0032092 | positive regulation of protein binding | 3693401 |
| Tgene | POLR2L | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| 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 | ESCA | TCGA-2H-A9GJ-01A | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| * 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-3CDS | ENST00000356093 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| 5UTR-3CDS | ENST00000398863 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| 5UTR-3CDS | ENST00000343067 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| 5UTR-3CDS | ENST00000349460 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| 5UTR-3CDS | ENST00000373800 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| 5UTR-3CDS | ENST00000347529 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| intron-3CDS | ENST00000373798 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| intron-3CDS | ENST00000373797 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
| intron-3CDS | ENST00000460378 | ENST00000322028 | EPB41 | chr1 | 29213722 | + | POLR2L | chr11 | 840480 | - |
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FusionProtFeatures for EPB41_POLR2L |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EPB41 | POLR2L |
| DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Common component of RNA polymerases I, II and IIIwhich synthesize ribosomal RNA precursors, mRNA precursors andmany functional non-coding RNAs, and a small RNAs, such as 5S rRNAand tRNAs, respectively. Pol II is the central component of thebasal RNA polymerase II transcription machinery. Pols are composedof mobile elements that move relative to each other. In Pol II,POLR2L/RBP10 is part of the core element with the central largecleft (By similarity). {ECO:0000250, ECO:0000269|PubMed:9852112}. |
| 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 EPB41_POLR2L |
| 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 EPB41_POLR2L |
| 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 |
| EPB41 | NUMA1, MYH9, CDK2, VARS, PAICS, TAGLN2, ECHS1, CALR, PFAS, DLG1, NPPA, CASK, TJP2, DYNC1H1, DCTN1, SPTAN1, SPTB, CENPJ, KPNA2, EIF3G, FN1, CLNS1A, RWDD2B, ZCCHC10, ABCE1, SF3A1, SF3A3, NTRK1, MED4, CDH1, TRIM25 | POLR2L | NOV, CCDC85B, MED10, MED29, MED19, MED28, MED26, POLR2A, POLR2B, POLR2C, POLR2E, POLR2G, POLR2H, POLR1A, INTS5, INTS6, POLR2D, CHEK2, SNX7, EXOSC5, ESR1, SRC, PSMB9, TCEB3, PHC2, REL, TP53BP2, ZBTB14, COIL, SPAG5, RPAP1, BANP, THAP1, L3MBTL3, GPN3, PIH1D1, RPRD1B, GPN2, POLR2M, SKAP1, POLR3D, POLR1D, POLR2I, IMP3, POLR1B, POLR1C, POLR3C, SMARCD1, MUS81, SNCA, SUPT5H, POLR3GL, RCCD1, LMO2, ASB6, 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 EPB41_POLR2L |
| 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 EPB41_POLR2L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EPB41 | C0025202 | melanoma | 1 | CTD_human |
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