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Fusion gene ID: 11702 |
FusionGeneSummary for EP400_SFSWAP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EP400_SFSWAP | Fusion gene ID: 11702 | Hgene | Tgene | Gene symbol | EP400 | SFSWAP | Gene ID | 57634 | 6433 |
| Gene name | E1A binding protein p400 | splicing factor SWAP | |
| Synonyms | CAGH32|P400|TNRC12 | SFRS8|SWAP | |
| Cytomap | 12q24.33 | 12q24.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E1A-binding protein p400CAG repeat protein 32domino homologhDominop400 SWI2/SNF2-related proteinp400 kDa SWI2/SNF2-related proteintrinucleotide repeat containing 12trinucleotide repeat-containing gene 12 protein | splicing factor, suppressor of white-apricot homologsplicing factor SWAP homologsplicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila ho | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96L91 | Q12872 | |
| Ensembl transtripts involved in fusion gene | ENST00000330386, ENST00000389561, ENST00000333577, ENST00000332482, ENST00000389562, | ENST00000261674, ENST00000541286, ENST00000539506, | |
| Fusion gene scores | * DoF score | 9 X 7 X 8=504 | 8 X 8 X 8=512 |
| # samples | 9 | 10 | |
| ** MAII score | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/512*10)=-2.35614381022528 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EP400 [Title/Abstract] AND SFSWAP [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 | EP400 | GO:0043967 | histone H4 acetylation | 14966270 |
| Hgene | EP400 | GO:0043968 | histone H2A acetylation | 14966270 |
| 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 | HNSC | TCGA-CQ-7067-01A | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| * 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 | ENST00000330386 | ENST00000261674 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000330386 | ENST00000541286 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| 5CDS-3UTR | ENST00000330386 | ENST00000539506 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000389561 | ENST00000261674 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000389561 | ENST00000541286 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| 5CDS-3UTR | ENST00000389561 | ENST00000539506 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000333577 | ENST00000261674 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000333577 | ENST00000541286 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| 5CDS-3UTR | ENST00000333577 | ENST00000539506 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000332482 | ENST00000261674 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000332482 | ENST00000541286 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| 5CDS-3UTR | ENST00000332482 | ENST00000539506 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000389562 | ENST00000261674 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| Frame-shift | ENST00000389562 | ENST00000541286 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
| 5CDS-3UTR | ENST00000389562 | ENST00000539506 | EP400 | chr12 | 132476001 | + | SFSWAP | chr12 | 132281723 | + |
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FusionProtFeatures for EP400_SFSWAP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EP400 | SFSWAP |
| Component of the NuA4 histone acetyltransferase complexwhich is involved in transcriptional activation of select genesprincipally by acetylation of nucleosomal histones H4 and H2A.This modification may both alter nucleosome - DNA interactions andpromote interaction of the modified histones with other proteinswhich positively regulate transcription. May be required fortranscriptional activation of E2F1 and MYC target genes duringcellular proliferation. The NuA4 complex ATPase and helicaseactivities seem to be, at least in part, contributed by theassociation of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42transcription activity. Component of a SWR1-like complex thatspecifically mediates the removal of histone H2A.Z/H2AFZ from thenucleosome. {ECO:0000269|PubMed:14966270,ECO:0000269|PubMed:24463511}. | Plays a role as an alternative splicing regulator.Regulate its own expression at the level of RNA processing. Alsoregulates the splicing of fibronectin and CD45 genes. May act, atleast in part, by interaction with other R/S-containing splicingfactors. Represses the splicing of MAPT/Tau exon 10.{ECO:0000269|PubMed:8940107}. |
| 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 EP400_SFSWAP |
| 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 EP400_SFSWAP |
| 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 |
| EP400 | TRRAP, MYC, MAX, RUVBL2, RUVBL1, ACTL6A, KAT5, ZMYND11, CTNNB1, MORF4L1, MORF4L2, DMAP1, TBC1D4, H2AFZ, CD2BP2, ESR1, TP53, SOX2, DYRK1B, HECW2, ALAS1, OBSL1, CCDC8, EED, PLAC1, FOXR1, FOXR2, HIST1H2BA, YEATS4, HDAC1, SMARCA4, HDAC2, MED23, ING3, FBXW7, CIITA, NANOG, POU5F1, EPC1, MBTD1, MYCL, MEAF6, MRGBP, STAT2, SSX3 | SFSWAP | RNPS1, JMJD6, CAND1, EAF1, NTRK1, EWSR1, NEIL3, CFAP20, RBM17, CAPN13, TSEN2, DLST |
| - 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 EP400_SFSWAP |
| 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 EP400_SFSWAP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SFSWAP | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
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