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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:SKI-FAF1 (FusionGDB2 ID:81511) |
Fusion Gene Summary for SKI-FAF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SKI-FAF1 | Fusion gene ID: 81511 | Hgene | Tgene | Gene symbol | SKI | FAF1 | Gene ID | 6497 | 11124 |
| Gene name | SKI proto-oncogene | Fas associated factor 1 | |
| Synonyms | SGS|SKV | CGI-03|HFAF1s|UBXD12|UBXN3A|hFAF1 | |
| Cytomap | 1p36.33-p36.32 | 1p32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ski oncogeneproto-oncogene c-Skiski oncoproteinv-ski avian sarcoma viral oncogene homolog | FAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3A | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | SKI | Q9UNN5 | |
| Ensembl transtripts involved in fusion gene | ENST00000378536, ENST00000478223, | ENST00000396153, ENST00000371778, ENST00000545823, ENST00000472808, | |
| Fusion gene scores | * DoF score | 14 X 8 X 8=896 | 28 X 23 X 14=9016 |
| # samples | 17 | 31 | |
| ** MAII score | log2(17/896*10)=-2.3979639859199 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(31/9016*10)=-4.86214739489798 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SKI [Title/Abstract] AND FAF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SKI(2161174)-FAF1(51267349), # samples:3 FAF1(51425439)-SKI(2234417), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | FAF1-SKI seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. FAF1-SKI seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. FAF1-SKI seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. | ||
| * 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 | SKI | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17469184 |
| Hgene | SKI | GO:0008285 | negative regulation of cell proliferation | 11430826 |
| Hgene | SKI | GO:0014902 | myotube differentiation | 19008232 |
| Hgene | SKI | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 17469184 |
| Hgene | SKI | GO:0030514 | negative regulation of BMP signaling pathway | 14699069 |
| Hgene | SKI | GO:0032926 | negative regulation of activin receptor signaling pathway | 14699069 |
| Hgene | SKI | GO:0043388 | positive regulation of DNA binding | 15107821 |
| Hgene | SKI | GO:0045668 | negative regulation of osteoblast differentiation | 14699069 |
| Hgene | SKI | GO:0060395 | SMAD protein signal transduction | 12874272 |
| Tgene | FAF1 | GO:0010942 | positive regulation of cell death | 15596450 |
| Fusion gene breakpoints across SKI (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across FAF1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-D7-6822-01A | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| ChimerDB4 | STAD | TCGA-D7-6822 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| ChimerDB4 | STAD | TCGA-D7-6822-01A | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
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Fusion Gene ORF analysis for SKI-FAF1 |
| 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 | ENST00000378536 | ENST00000396153 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| In-frame | ENST00000378536 | ENST00000371778 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| 5CDS-intron | ENST00000378536 | ENST00000545823 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| 5CDS-intron | ENST00000378536 | ENST00000472808 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| intron-3CDS | ENST00000478223 | ENST00000396153 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| intron-3CDS | ENST00000478223 | ENST00000371778 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| intron-intron | ENST00000478223 | ENST00000545823 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| intron-intron | ENST00000478223 | ENST00000472808 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000378536 | SKI | chr1 | 2161174 | + | ENST00000396153 | FAF1 | chr1 | 51267349 | - | 4842 | 1041 | 72 | 2879 | 935 |
| ENST00000378536 | SKI | chr1 | 2161174 | + | ENST00000371778 | FAF1 | chr1 | 51267349 | - | 3283 | 1041 | 72 | 2879 | 935 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000378536 | ENST00000396153 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - | 0.000934076 | 0.99906594 |
| ENST00000378536 | ENST00000371778 | SKI | chr1 | 2161174 | + | FAF1 | chr1 | 51267349 | - | 0.002139141 | 0.99786085 |
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Fusion Genomic Features for SKI-FAF1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for SKI-FAF1 |
| Go to FGviewer for the breakpoints of chr1:2161174-chr1:51267349 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SKI | FAF1 |
| 908 | FUNCTION: Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity). {ECO:0000250|UniProtKB:P54731, ECO:0000269|PubMed:19722279, ECO:0000269|PubMed:26842564}. |
| 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 |
| Tgene | FAF1 | chr1:2161174 | chr1:51267349 | ENST00000371778 | 2 | 20 | 569_646 | 38.0 | 651.0 | Domain | UBX | |
| Tgene | FAF1 | chr1:2161174 | chr1:51267349 | ENST00000396153 | 1 | 19 | 569_646 | 38.0 | 651.0 | Domain | UBX |
| - 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 | SKI | chr1:2161174 | chr1:51267349 | ENST00000378536 | + | 1 | 7 | 536_710 | 323.0 | 729.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | FAF1 | chr1:2161174 | chr1:51267349 | ENST00000371778 | 2 | 20 | 1_57 | 38.0 | 651.0 | Domain | UBA | |
| Tgene | FAF1 | chr1:2161174 | chr1:51267349 | ENST00000396153 | 1 | 19 | 1_57 | 38.0 | 651.0 | Domain | UBA |
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Fusion Gene Sequence for SKI-FAF1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >In-frame_ENST00000378536_ENST00000396153_TCGA-D7-6822-01A_SKI_chr1_2161174_+_FAF1_chr1_51267349_length(transcript)=4842nt_BP=1041nt CGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGC GGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCC GCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCA GCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGC TCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATT CTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGAC CAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGC AACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGC AGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAG TGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTC GACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGAC GTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATT CTACAAAGTGAATATGGAGGTGAGACCATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCTTCT TCAGCGTTTCGACCTGTAATGCCATCCAGGCAGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTTGAATACAGAGACAGAAAT GTTGATGTGGTACTTGAAGACACCTGTACTGTTGGAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATGCTG TTAAAAGGCTGGAAGACGGGAGATGTGGAAGACAGTACGGTCCTAAAATCTCTACACTTGCCAAAAAACAACAGTCTTTATGTCCTTACA CCAGATTTGCCACCACCTTCATCATCTAGTCATGCTGGTGCCCTGCAGGAGTCATTAAATCAAAACTTCATGCTGATCATCACCCACCGA GAAGTCCAGCGGGAGTACAACCTGAACTTCTCAGGAAGCAGTACTATTCAAGAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCC GTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCAT CGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAACAAATCACCGATGTTCATATGGTTAGTGATAGC GATGGAGATGACTTTGAAGATGCTACAGAATTTGGGGTGGATGATGGAGAAGTATTTGGCATGGCGTCATCTGCCTTGAGAAAATCTCCA ATGATGCCAGAAAACGCAGAAAATGAAGGAGATGCCTTATTACAATTTACAGCAGAGTTTTCTTCAAGATATGGTGATTGCCATCCTGTA TTTTTTATTGGCTCATTAGAAGCTGCTTTTCAAGAGGCCTTCTATGTGAAAGCCCGAGATAGAAAGCTTCTTGCTATCTACCTCCACCAT GATGAAAGTGTGTTAACCAACGTGTTCTGCTCACAAATGCTTTGTGCTGAATCCATTGTTTCTTATCTGAGTCAAAATTTTATAACCTGG GCTTGGGATCTGACAAAGGACTCCAACAGAGCAAGATTTCTCACTATGTGCAATAGACACTTTGGCAGTGTTGTGGCACAAACCATTCGG ACTCAAAAAACGGATCAGTTTCCGCTTTTCCTGATTATTATGGGAAAGCGATCATCTAATGAAGTGTTGAATGTGATACAAGGGAACACA ACAGTAGATGAGTTAATGATGAGACTCATGGCTGCAATGGAGATCTTCACAGCCCAACAACAGGAAGATATAAAGGACGAGGATGAACGT GAAGCCAGAGAAAATGTGAAGAGAGAGCAAGATGAGGCCTATCGCCTTTCACTTGAGGCTGACAGAGCAAAGAGGGAAGCTCACGAGAGA GAGATGGCAGAACAGTTTCGTTTGGAGCAGATTCGCAAAGAACAAGAAGAGGAACGTGAGGCCATCCGGCTGTCCTTAGAGCAAGCCCTG CCTCCTGAGCCAAAGGAAGAAAATGCTGAGCCTGTGAGCAAACTGCGGATCCGGACCCCCAGTGGCGAGTTCTTGGAGCGGCGTTTCCTG GCCAGCAACAAGCTCCAGATTGTCTTTGATTTTGTAGCTTCCAAAGGATTTCCATGGGATGAGTACAAGTTACTGAGCACCTTTCCTAGG AGAGACGTAACTCAACTGGACCCAAATAAATCATTATTGGAGGTAAAGTTGTTCCCTCAAGAAACCCTTTTCCTTGAAGCAAAAGAGTAA ACACGGCCCAGCGGTGGAACCAGCCATTCCTTGACAAGCCAGCAGCCTGCGTCAGGAGAAGGGCTCCTCGCCAACCCACCCACACGCTCG TCTCACTCAATTCAATGTCACACTTCTGCCTCTTGCAAAATTGCTGGAAAAAGTAATAATAAATATAGCTACTTAAGATTTCCCATCCAT GAGTATATATTCCCAACCCTTATTACAGAGAATTACAACTCTGCCACCCTCCCCTACCCCCTGCACTTCACCCTCCTTCAATGACGAATG CATTGTTCAAGTGTGAGTGATCACTAAATAGAATTTTTACCTCTCCAGTGCCCATCTTTTCCCCACAGTGTCTAGGACAGTTCTGTCTGT TCTGTGACACCAGGATGCTGTATATTTGATATATGTCTTTTTATTTTCATGACTGAATTTCTACTTCATCACCTAATTTTAAGGGGCAGA GGGAAAAAAAGTCAAATGAGACATTGTCGGCATGGAGATTAAACATTGTAGGAAAAAAGTATACCATTTTTGTTAGAACTTTCTGATGGC TTTACTAAGATGTCAGGTTTTGTTTGAGGACTGAATTTGACATATATGCAAGATATTTATTTACTGCTGCTGCCTTGGGTCTCCAGGTTC TACCTAGGAGGTATTTGCTGTTCCATTGCAGCATAGGGAAACTGTTCAAGCACACAATGTGAATGTTGAGATCATGTGCAGAGAGGCCAG TACCAAAACTTCAGTATCTGGCCCAATGGCAAGAGGCTACTGTTAGGTTTGCATTTGGGCAGTTAGAACCTCACAGATACCAGCTCCCAA GTTGCTAGTCCATCAGTGTAAACTGAACACAATTCTCTCTTGCTTTCTCTCTCTCTACTCCCTCACACATTTGGACCTTGTCACTTGGTG TTTAAGCACCTTGCCTATCAACAAAATCTGATGAGCAGCCCCATGGACTCTCCTGTAATAAGGAACTTGCTCTACTATTTTATTCTTTTA ATGTTTTAGTATTTGATATTGGACTCAAATGAAAGGGATCTCATTCTGTGGCTGAAAAATCAGACTTCATATGTTGAAGAGAGCAAACTT GGGGACTCAACTCAGAAGACATGTGTTGCCTGAAACCTGCATATAATAATTTTTGATTTGATTTAGTAAGTGTGGATTTTTCTTAATCTA CAGATTTGGGGTTTGGGGTTTAGATCATGAGAACACCGTTTATACCTTCACAGCCAATGATTTATTTTTAGTCTTGAAATATTTCTCCAT ATCTGTTTTTGTGTCACCTGTGGGTTTTATCCTAGGGGTTGGGATCCTGATTTTAACATTTTGTACTTGTCCAAAAAAGAGTTCAAATGC TGGGTTTGTTCCCCCAGCCTCGGCCAAGGGGTTCTCAGAAGATTCTAACCAAAGCTGGAGATAGGTCTGCTCATTTTCCTTCTGCCCAGA AGTGGATGTTGGCCAGGAAAATTACACCTTGTGTCTTCTCTGATGCTCCAACCAGGGACCTCTCCAGATTACTATCTAGCACAGACTAGT GCTACATCTGCCTAGGTATGGGCTTTCTCTGGCAGCAGGGGTCTCTCTAGGGAGGCTGAGAGACCCATGGGTCTCCCTTCAGGGGAAGTG TTCAGGGGAGTTCAAACTGAACACTTCTCTCCAGCTCTATTCCTATCTTCCTAATCTAATGGCTCTACAAGATAGTCATTTCCAGTGCTA CAGATGCACCAGGGCACCACCTCTTTTTTTTTCTAGGTAGACCTTGTTCTGTAGCTGCTGTGAAGAAGCTGCAGCCCTGAACTCAGGTCA TACTCAGGAACAGCAGCAGGGGTGTGGGTGGGGTTTGAGGGAAGGTACTCTGAATTCACCTTCATGTTTAACCTGTTCCATCTGACTTGG >In-frame_ENST00000378536_ENST00000396153_TCGA-D7-6822-01A_SKI_chr1_2161174_+_FAF1_chr1_51267349_length(amino acids)=935AA_start in transcript=72_stop in transcript=2879 MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEPPPVLHLPAIQPPPPVLPGPF FMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKT DAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENR TCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGNKYKRRVPRAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASA PTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNN SLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESG LSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRY GDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLTMCNRHFGSV VAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAK REAHEREMAEQFRLEQIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASKGFPWDEYKL -------------------------------------------------------------- >In-frame_ENST00000378536_ENST00000371778_TCGA-D7-6822-01A_SKI_chr1_2161174_+_FAF1_chr1_51267349_length(transcript)=3283nt_BP=1041nt CGGGGCGGCGGCGGGGGCCGGGGGGGCCCGGGCGCGCGGGAGCGGGAGCGGCCGGGGGAGCCGGAGCGCACCATGGAGGCGGCGGCAGGC GGCCGCGGCTGTTTCCAGCCGCACCCGGGGCTGCAGAAGACGCTGGAGCAGTTCCACCTGAGCTCCATGAGCTCGCTGGGCGGCCCGGCC GCTTTCTCGGCGCGCTGGGCGCAGGAGGCCTACAAGAAGGAGAGCGCCAAGGAGGCGGGCGCGGCCGCGGTGCCGGCGCCGGTGCCCGCA GCCACCGAGCCGCCGCCCGTGCTGCACCTGCCCGCCATCCAGCCGCCGCCGCCCGTGCTGCCCGGGCCCTTCTTCATGCCGTCCGACCGC TCCACCGAGCGCTGCGAGACCGTACTGGAAGGCGAGACCATCTCGTGCTTCGTGGTGGGAGGCGAGAAGCGCCTGTGTCTGCCGCAGATT CTCAACTCGGTGCTGCGCGACTTCTCGCTGCAGCAGATCAACGCGGTGTGCGACGAGCTCCACATCTACTGCTCGCGCTGCACGGCCGAC CAGCTGGAGATCCTCAAAGTCATGGGCATCCTGCCCTTCTCGGCGCCCTCGTGCGGGCTCATCACCAAGACGGACGCCGAGCGCCTGTGC AACGCGCTGCTCTACGGCGGCGCCTACCCGCCGCCCTGCAAGAAGGAGCTGGCCGCCAGCCTGGCGCTGGGCCTGGAGCTCAGCGAGCGC AGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAG TGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTC GACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGCGCCTCGGCCGCTGCCTGGACGAC GTGAAGGAGAAATTCGACTATGGCAACAAGTACAAGCGGCGGGTGCCCCGGGCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATT CTACAAAGTGAATATGGAGGTGAGACCATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCTTCT TCAGCGTTTCGACCTGTAATGCCATCCAGGCAGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTTGAATACAGAGACAGAAAT GTTGATGTGGTACTTGAAGACACCTGTACTGTTGGAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATGCTG TTAAAAGGCTGGAAGACGGGAGATGTGGAAGACAGTACGGTCCTAAAATCTCTACACTTGCCAAAAAACAACAGTCTTTATGTCCTTACA CCAGATTTGCCACCACCTTCATCATCTAGTCATGCTGGTGCCCTGCAGGAGTCATTAAATCAAAACTTCATGCTGATCATCACCCACCGA GAAGTCCAGCGGGAGTACAACCTGAACTTCTCAGGAAGCAGTACTATTCAAGAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCC GTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACAGACGACTCAATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCAT CGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAACAAATCACCGATGTTCATATGGTTAGTGATAGC GATGGAGATGACTTTGAAGATGCTACAGAATTTGGGGTGGATGATGGAGAAGTATTTGGCATGGCGTCATCTGCCTTGAGAAAATCTCCA ATGATGCCAGAAAACGCAGAAAATGAAGGAGATGCCTTATTACAATTTACAGCAGAGTTTTCTTCAAGATATGGTGATTGCCATCCTGTA TTTTTTATTGGCTCATTAGAAGCTGCTTTTCAAGAGGCCTTCTATGTGAAAGCCCGAGATAGAAAGCTTCTTGCTATCTACCTCCACCAT GATGAAAGTGTGTTAACCAACGTGTTCTGCTCACAAATGCTTTGTGCTGAATCCATTGTTTCTTATCTGAGTCAAAATTTTATAACCTGG GCTTGGGATCTGACAAAGGACTCCAACAGAGCAAGATTTCTCACTATGTGCAATAGACACTTTGGCAGTGTTGTGGCACAAACCATTCGG ACTCAAAAAACGGATCAGTTTCCGCTTTTCCTGATTATTATGGGAAAGCGATCATCTAATGAAGTGTTGAATGTGATACAAGGGAACACA ACAGTAGATGAGTTAATGATGAGACTCATGGCTGCAATGGAGATCTTCACAGCCCAACAACAGGAAGATATAAAGGACGAGGATGAACGT GAAGCCAGAGAAAATGTGAAGAGAGAGCAAGATGAGGCCTATCGCCTTTCACTTGAGGCTGACAGAGCAAAGAGGGAAGCTCACGAGAGA GAGATGGCAGAACAGTTTCGTTTGGAGCAGATTCGCAAAGAACAAGAAGAGGAACGTGAGGCCATCCGGCTGTCCTTAGAGCAAGCCCTG CCTCCTGAGCCAAAGGAAGAAAATGCTGAGCCTGTGAGCAAACTGCGGATCCGGACCCCCAGTGGCGAGTTCTTGGAGCGGCGTTTCCTG GCCAGCAACAAGCTCCAGATTGTCTTTGATTTTGTAGCTTCCAAAGGATTTCCATGGGATGAGTACAAGTTACTGAGCACCTTTCCTAGG AGAGACGTAACTCAACTGGACCCAAATAAATCATTATTGGAGGTAAAGTTGTTCCCTCAAGAAACCCTTTTCCTTGAAGCAAAAGAGTAA ACACGGCCCAGCGGTGGAACCAGCCATTCCTTGACAAGCCAGCAGCCTGCGTCAGGAGAAGGGCTCCTCGCCAACCCACCCACACGCTCG TCTCACTCAATTCAATGTCACACTTCTGCCTCTTGCAAAATTGCTGGAAAAAGTAATAATAAATATAGCTACTTAAGATTTCCCATCCAT GAGTATATATTCCCAACCCTTATTACAGAGAATTACAACTCTGCCACCCTCCCCTACCCCCTGCACTTCACCCTCCTTCAATGACGAATG CATTGTTCAAGTGTGAGTGATCACTAAATAGAATTTTTACCTCTCCAGTGCCCATCTTTTCCCCACAGTGTCTAGGACAGTTCTGTCTGT >In-frame_ENST00000378536_ENST00000371778_TCGA-D7-6822-01A_SKI_chr1_2161174_+_FAF1_chr1_51267349_length(amino acids)=935AA_start in transcript=72_stop in transcript=2879 MEAAAGGRGCFQPHPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKEAGAAAVPAPVPAATEPPPVLHLPAIQPPPPVLPGPF FMPSDRSTERCETVLEGETISCFVVGGEKRLCLPQILNSVLRDFSLQQINAVCDELHIYCSRCTADQLEILKVMGILPFSAPSCGLITKT DAERLCNALLYGGAYPPPCKKELAASLALGLELSERSVRVYHECFGKCKGLLVPELYSSPSAACIQCLDCRLMYPPHKFVVHSHKALENR TCHWGFDSANWRAYILLSQDYTGKEEQARLGRCLDDVKEKFDYGNKYKRRVPRAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASA PTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNN SLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESG LSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRY GDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLTMCNRHFGSV VAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAK REAHEREMAEQFRLEQIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASKGFPWDEYKL -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for SKI-FAF1 |
| 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 |
| - 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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Related Drugs for SKI-FAF1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for SKI-FAF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SKI | C1321551 | Shprintzen-Goldberg syndrome | 4 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | SKI | C1842870 | Chromosome 1p36 Deletion Syndrome | 2 | ORPHANET |
| Hgene | SKI | C0003486 | Aortic Aneurysm | 1 | CTD_human |
| Hgene | SKI | C0011999 | Diastematomyelia | 1 | CTD_human |
| Hgene | SKI | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Hgene | SKI | C0027806 | Neurenteric Cyst | 1 | CTD_human |
| Hgene | SKI | C0080218 | Tethered Cord Syndrome | 1 | CTD_human |
| Hgene | SKI | C0151491 | Congenital musculoskeletal anomalies | 1 | CTD_human |
| Hgene | SKI | C0152234 | Iniencephaly | 1 | CTD_human |
| Hgene | SKI | C0152426 | Craniorachischisis | 1 | CTD_human |
| Hgene | SKI | C0266453 | Exencephaly | 1 | CTD_human |
| Hgene | SKI | C0344479 | Spinal Cord Myelodysplasia | 1 | CTD_human |
| Hgene | SKI | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | SKI | C0702169 | Acrania | 1 | CTD_human |
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