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Fusion gene ID: 28884 |
FusionGeneSummary for PRPF6_GATA5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRPF6_GATA5 | Fusion gene ID: 28884 | Hgene | Tgene | Gene symbol | PRPF6 | GATA5 | Gene ID | 24148 | 140628 |
| Gene name | pre-mRNA processing factor 6 | GATA binding protein 5 | |
| Synonyms | ANT-1|ANT1|C20orf14|Prp6|RP60|SNRNP102|TOM|U5-102K|hPrp6 | CHTD5|GATAS|bB379O24.1 | |
| Cytomap | 20q13.33 | 20q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pre-mRNA-processing factor 6PRP6 homologPRP6 pre-mRNA processing factor 6 homologU5 snRNP-associated 102 kDa proteinU5-102 kDa proteinandrogen receptor N-terminal domain transactivating protein-1p102 U5 small nuclear ribonucleoprotein particle-bindi | transcription factor GATA-5GATA binding factor-5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O94906 | Q9BWX5 | |
| Ensembl transtripts involved in fusion gene | ENST00000535781, | ENST00000252997, | |
| Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 2 X 2 X 1=4 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: PRPF6 [Title/Abstract] AND GATA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | PRPF6 | GO:0000398 | mRNA splicing, via spliceosome | 28781166 |
| Hgene | PRPF6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16414017 |
| Tgene | GATA5 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14986113 |
| Tgene | GATA5 | GO:0060575 | intestinal epithelial cell differentiation | 9566909 |
| 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-BH-A0HL-01A | PRPF6 | chr20 | 62631112 | + | GATA5 | chr20 | 61041607 | - |
| * 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 |
| In-frame | ENST00000535781 | ENST00000252997 | PRPF6 | chr20 | 62631112 | + | GATA5 | chr20 | 61041607 | - |
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FusionProtFeatures for PRPF6_GATA5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRPF6 | GATA5 |
| Transcription factor required during cardiovasculardevelopment (PubMed:23289003). Plays an important role in thetranscriptional program(s) that underlies smooth muscle celldiversity (By similarity). Binds to the functionally importantCEF-1 nuclear protein binding site in the cardiac-specificslow/cardiac troponin C transcriptional enhancer(PubMed:25543888). {ECO:0000250|UniProtKB:P97489,ECO:0000269|PubMed:23289003, ECO:0000269|PubMed:25543888}. |
| 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 |
| Hgene | PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 67_72 | 341 | 902 | Compositional bias | Note=Poly-Asp |
| Tgene | >GATA5 | chr20:62631112 | chr20:61041607 | ENST00000252997 | - | 2 | 7 | 243_267 | 233 | 398 | Zinc finger | GATA-type 2 |
| - 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 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 384_416 | 341 | 902 | Repeat | Note=HAT 1 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 418_444 | 341 | 902 | Repeat | Note=HAT 2 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 445_476 | 341 | 902 | Repeat | Note=HAT 3 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 554_586 | 341 | 902 | Repeat | Note=HAT 4 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 588_620 | 341 | 902 | Repeat | Note=HAT 5 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 622_654 | 341 | 902 | Repeat | Note=HAT 6 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 689_721 | 341 | 902 | Repeat | Note=HAT 7 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 723_755 | 341 | 902 | Repeat | Note=HAT 8 |
| Hgene | >PRPF6 | chr20:62631112 | chr20:61041607 | ENST00000535781 | + | 8 | 20 | 855_887 | 341 | 902 | Repeat | Note=HAT 9 |
| Tgene | GATA5 | chr20:62631112 | chr20:61041607 | ENST00000252997 | - | 2 | 7 | 189_213 | 233 | 398 | Zinc finger | GATA-type 1 |
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FusionGeneSequence for PRPF6_GATA5 |
| 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. |
| >In-frame_PRPF6_ENST00000535781_chr20_62631112_+_GATA5_ENST00000252997_chr20_61041607_-_506aa MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFS SGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLT PVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDP KGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSSSRRAGLCCTNCHTTNTT LWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PRPF6_ENST00000535781_chr20_62631112_+_GATA5_ENST00000252997_chr20_61041607_-_1518nt ATGAACAAGAAGAAGAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGGGGCGCCACTGGCTTCACCACG CGGTCAGACATTGGGCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATGCACCCCCAGGCAAGAGAACCGTTGGGGACCAGATG AAGAAAAATCAGGCTGCTGACGATGACGACGAGGATCTAAATGACACCAATTACGATGAGTTTAATGGCTATGCTGGGAGCCTCTTCTCA AGTGGACCCTACGAGAAAGATGATGAGGAAGCAGATGCTATCTATGCAGCCCTGGATAAAAGGATGGATGAAAGAAGAAAAGAAAGACGG GAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCCCAAAATCCAACAGCAGTTCTCAGACCTCAAGAGGAAGTTGGCA GAAGTCACAGAAGAAGAGTGGCTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAACCCACGCTATGAGAAGCTGACC CCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGTGGATCCCCGACAAACTCAATTTGGAGGTCTT AACACACCCTATCCAGGTGGACTAAACACTCCATACCCAGGTGGAATGACGCCAGGACTGATGACACCTGGCACAGGTGAGCTGGACATG AGGAAGATTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTCCGTGAGTGGACAGACCGTCGTTGACCCC AAAGGCTACCTGACGGATTTAAATTCCATGATCCCGACACACGGAGGAGACATCAATGATATCAAGAAGGCGCGACTGCTCCTCAAGTCT GTTCGGGAGACGAACCCTCATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAAGTCACTGGGAAGCTACAAGTAGCTCGGAAC CTTATCATGAAGGGGACGGAGATGTGCCCCAAGTCCTCGTCCCGCCGCGCCGGCCTCTGCTGCACCAACTGCCACACGACCAACACCACG CTGTGGCGGCGGAACTCGGAGGGGGAGCCCGTGTGCAATGCCTGCGGCCTCTACATGAAGCTGCACGGGGTGCCGCGGCCTCTGGCTATG AAGAAGGAAAGCATCCAGACACGGAAGCGGAAGCCAAAGACCATCGCCAAGGCCAGGGGCTCCTCAGGATCCACAAGGAATGCCTCGGCC TCCCCATCTGCTGTCGCCAGCACTGACAGCTCAGCAGCCACTTCGAAAGCCAAGCCCAGCCTGGCGTCCCCAGTGTGCCCTGGGCCCAGC ATGGCCCCCCAGGCCTCTGGCCAGGAGGATGACTCTCTTGCCCCCGGCCACTTGGAGTTCAAGTTCGAGCCTGAGGACTTTGCCTTCCCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PRPF6_ENST00000535781_chr20_62631112_+_GATA5_ENST00000252997_chr20_61041607_-_2968nt GGCGACACTTTGCTACGGAGTGCATCGGACGTCGAAGCCTAGAGTCTCTGCGTCTTTCCCTCTTCCGCTGCCTCATTCCTTTCCTTCCTA GCCTTGGTCGTCGCCGCCACCATGAACAAGAAGAAGAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGG GGCGCCACTGGCTTCACCACGCGGTCAGACATTGGGCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATGCACCCCCAGGCAAG AGAACCGTTGGGGACCAGATGAAGAAAAATCAGGCTGCTGACGATGACGACGAGGATCTAAATGACACCAATTACGATGAGTTTAATGGC TATGCTGGGAGCCTCTTCTCAAGTGGACCCTACGAGAAAGATGATGAGGAAGCAGATGCTATCTATGCAGCCCTGGATAAAAGGATGGAT GAAAGAAGAAAAGAAAGACGGGAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCCCAAAATCCAACAGCAGTTCTCA GACCTCAAGAGGAAGTTGGCAGAAGTCACAGAAGAAGAGTGGCTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAAC CCACGCTATGAGAAGCTGACCCCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGTGGATCCCCGA CAAACTCAATTTGGAGGTCTTAACACACCCTATCCAGGTGGACTAAACACTCCATACCCAGGTGGAATGACGCCAGGACTGATGACACCT GGCACAGGTGAGCTGGACATGAGGAAGATTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTCCGTGAGT GGACAGACCGTCGTTGACCCCAAAGGCTACCTGACGGATTTAAATTCCATGATCCCGACACACGGAGGAGACATCAATGATATCAAGAAG GCGCGACTGCTCCTCAAGTCTGTTCGGGAGACGAACCCTCATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAAGTCACTGGG AAGCTACAAGTAGCTCGGAACCTTATCATGAAGGGGACGGAGATGTGCCCCAAGTCCTCGTCCCGCCGCGCCGGCCTCTGCTGCACCAAC TGCCACACGACCAACACCACGCTGTGGCGGCGGAACTCGGAGGGGGAGCCCGTGTGCAATGCCTGCGGCCTCTACATGAAGCTGCACGGG GTGCCGCGGCCTCTGGCTATGAAGAAGGAAAGCATCCAGACACGGAAGCGGAAGCCAAAGACCATCGCCAAGGCCAGGGGCTCCTCAGGA TCCACAAGGAATGCCTCGGCCTCCCCATCTGCTGTCGCCAGCACTGACAGCTCAGCAGCCACTTCGAAAGCCAAGCCCAGCCTGGCGTCC CCAGTGTGCCCTGGGCCCAGCATGGCCCCCCAGGCCTCTGGCCAGGAGGATGACTCTCTTGCCCCCGGCCACTTGGAGTTCAAGTTCGAG CCTGAGGACTTTGCCTTCCCCTCCACGGCCCCAAGCCCCCAGGCTGGCCTCAGGGGGGCTCTGCGCCAAGAGGCCTGGTGTGCGCTGGCC TTGGCCTAGGTCCCCAGGCCAGCCCATGTCAGGGGAACAGCCTGGAACAGACCACCCACTGAGTCACCTCCGTGCCTGCTTTGCTCCAGC ACAGCAGAGACCAGCAGGCCCCCCAACCCAGAGACTGGGTCTGCTGGAGTCTCCACACAGTGGTGGGGAGGCCTTCTGGACAGACGGCAG TCGGGCCCCAGAGCAAGAAGGCTGGTGAGGGAAGGGCTCAGCTTCCCACCCCACGTACAGCAAGGGACTCCCCAGGTGCGGCCCAAGGCT CCGGACCACACTGGCCCCCTGCGGCGGAGGCCAACGCAGGGCACCACCACCACCAACTTGAATTCCGTCATCAATGCTCACCGTCAATAT GTTTACAAGTTGTAGCAGTTGGGGGAAAACAGTCAACCTCCCAGTGTAAAACCAAGATTCCCAGTGAAGCACCTGAGGCCAAGCAGGGGA GAGGAATGAGGGGAGCAGCTGGACATGGGCCTCCTGAGGCCTCGGGGCTGTCCTTCATTGCCCACATGGATAGACGGAGCTGTGGTGCAG AGAACTTTTCCCGCAACAGGTGCAGGACTGCCAGGGATCGGAGTGCGGGCCGCGCACGGTGCCAGGATTCCGCCGAGGGGAAGCCGCTCA CATTGCAGTCATCACAGACTTACGCACTTGTTTGGACAGTTTTTCCAGAGGGGATGGGAAAGGGCCTTGTTCTAGCTGAATCTGTGTATC ATGACCATTTCTGACAGGCAGAATGAATTGTCTGGTAGCCCTGTCCTGACCCATCCAAGCGCTGTTGGGGCTGGTGGTGACGTGGTCACA TGTCCTGGCATATCTGGGGCCACGCAGTTTAGTCTCTTGTCCCAGGAGAATTGTTAGTGACCCCTCTTTCTCTTGCAAGCCCCCTCCACA CTGGGTTGGATGATACCTTAATGAGTGACGCTGGCGAGAGGCACCCTACCCGACGCAGCTGTGAATGGCCGGTGATGTATGTCAGGAGGC CACAGGGAGCAGAGGAGCGGGGCAGGCAGCCACAGGGCCCTGCGGGGAGCACATCCTCGCCTCCGTCCGGCTGCTGCCCTTCAACAACAA GCCCTGATTTTTCCAGCAATGCCAGAAACCTGGATTTTAAGTCTTCCAATTTGATTCAAAAATATTTTTAACATTGTGAGCCAGCTAGAC CCCCAGTGCACCACCCCATATTGAAAAACAGTTGTCTGGCATCAGCTTCAGGAGCGGGTCCGGTCATTCTGAAACTGTCCCTCCAGAGGT |
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FusionGenePPI for PRPF6_GATA5 |
| 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 |
| PRPF6 | TXNL4B, CD2BP2, SNRNP40, RNPS1, RNU11, ARAF, RAF1, TIMM44, PRPF6, YWHAB, AR, USP39, PRPF4, MEPCE, GIGYF2, SMARCA2, TADA2A, MYC, SF3A2, SIRT7, PRPF31, SART1, TXNL4A, EFTUD2, SNRNP200, PRPF8, PRPF3, SNRPD1, SNRPD3, SF3B3, SNRPD2, SNRPA1, SRSF7, NHP2L1, HNRNPM, U2AF1, SRSF5, U2AF2, PRPF19, EIF4A3, ACIN1, SRRM2, SAP18, SON, TPBG, THRAP3, NCSTN, NPM1, RPS13, RPS24, DDX18, RBM14, SUPT16H, TRA2A, ZNF326, NOTCH1, IK, CTNNB1, MMS19, HDAC11, PRPF4B, PARK2, RPA1, RPA2, RPA3, PASK, CUL7, OBSL1, CCDC8, EED, GCFC2, DDX23, TSSC4, BSG, LUC7L2, SF3A1, SNRPA, SF3A3, RNU12, NTRK1, SCARNA22, TP53, KIF21B, RAB4B, SNW1, CDC5L, MEX3C, RC3H1, ZNF746, SNRPG, SNRPE, SNRPN, SNRPF, KIAA1143, GPR156, RBM42, SMU1, RIOK1, ZNHIT2, AAR2, EAPP, DLST, PDHA1, FOXA1, TRIM25, BRCA1, LMNA | GATA5 | KLF2 |
| - 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 PRPF6_GATA5 |
| 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 PRPF6_GATA5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRPF6 | C3151434 | RETINITIS PIGMENTOSA 60 | 1 | UNIPROT |
| Tgene | GATA5 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
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