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Fusion gene ID: 29691 |
FusionGeneSummary for PUS1_SFSWAP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PUS1_SFSWAP | Fusion gene ID: 29691 | Hgene | Tgene | Gene symbol | PUS1 | SFSWAP | Gene ID | 80324 | 6433 |
| Gene name | pseudouridylate synthase 1 | splicing factor SWAP | |
| Synonyms | MLASA1 | SFRS8|SWAP | |
| Cytomap | 12q24.33 | 12q24.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tRNA pseudouridine synthase Amitochondrial tRNA pseudouridine synthase AtRNA pseudouridine synthase A, mitochondrialtRNA pseudouridine(38-40) synthasetRNA pseudouridylate synthase ItRNA uridine isomerase I | 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 | 20180523 | 20180523 | |
| UniProtAcc | Q9Y606 | Q12872 | |
| Ensembl transtripts involved in fusion gene | ENST00000443358, ENST00000376649, ENST00000440818, ENST00000542167, ENST00000535067, | ENST00000261674, ENST00000541286, ENST00000539506, | |
| Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 8 X 8 X 8=512 |
| # samples | 3 | 10 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: PUS1 [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 |
| 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-E2-A108-01A | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| * 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 | ENST00000443358 | ENST00000261674 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000443358 | ENST00000541286 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| 5CDS-intron | ENST00000443358 | ENST00000539506 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000376649 | ENST00000261674 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000376649 | ENST00000541286 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| 5CDS-intron | ENST00000376649 | ENST00000539506 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000440818 | ENST00000261674 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000440818 | ENST00000541286 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| 5CDS-intron | ENST00000440818 | ENST00000539506 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000542167 | ENST00000261674 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| In-frame | ENST00000542167 | ENST00000541286 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| 5CDS-intron | ENST00000542167 | ENST00000539506 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| intron-3CDS | ENST00000535067 | ENST00000261674 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| intron-3CDS | ENST00000535067 | ENST00000541286 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
| intron-intron | ENST00000535067 | ENST00000539506 | PUS1 | chr12 | 132423820 | + | SFSWAP | chr12 | 132250663 | + |
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FusionProtFeatures for PUS1_SFSWAP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PUS1 | SFSWAP |
| Converts specific uridines to PSI in a number of tRNAsubstrates. Acts on positions 27/28 in the anticodon stem and alsopositions 34 and 36 in the anticodon of an intron containing tRNA.Involved in regulation of nuclear receptor activity throughpseudouridylation of SRA1 RNA. {ECO:0000269|PubMed:24722331}. | 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 |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 660_663 | 650 | 952 | Compositional bias | Note=Poly-Ala |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 754_763 | 650 | 952 | Compositional bias | Note=Poly-Lys |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 789_951 | 650 | 952 | Compositional bias | Note=Arg/Ser-rich (RS domain) |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 850_853 | 650 | 952 | Compositional bias | Note=Poly-Lys |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 660_663 | 650 | 1004 | Compositional bias | Note=Poly-Ala |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 754_763 | 650 | 1004 | Compositional bias | Note=Poly-Lys |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 789_951 | 650 | 1004 | Compositional bias | Note=Arg/Ser-rich (RS domain) |
| Tgene | >SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 850_853 | 650 | 1004 | Compositional bias | Note=Poly-Lys |
| - 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 |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 165_168 | 650 | 952 | Compositional bias | Note=Poly-Glu |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 287_290 | 650 | 952 | Compositional bias | Note=Poly-Asp |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 382_385 | 650 | 952 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 413_416 | 650 | 952 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 420_424 | 650 | 952 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 434_440 | 650 | 952 | Compositional bias | Note=Poly-Thr |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 451_454 | 650 | 952 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 616_619 | 650 | 952 | Compositional bias | Note=Poly-Ser |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 165_168 | 650 | 1004 | Compositional bias | Note=Poly-Glu |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 287_290 | 650 | 1004 | Compositional bias | Note=Poly-Asp |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 382_385 | 650 | 1004 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 413_416 | 650 | 1004 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 420_424 | 650 | 1004 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 434_440 | 650 | 1004 | Compositional bias | Note=Poly-Thr |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 451_454 | 650 | 1004 | Compositional bias | Note=Poly-Pro |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 616_619 | 650 | 1004 | Compositional bias | Note=Poly-Ser |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 211_253 | 650 | 952 | Repeat | Note=SURP motif 1 |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000261674 | + | 11 | 18 | 459_499 | 650 | 952 | Repeat | Note=SURP motif 2 |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 211_253 | 650 | 1004 | Repeat | Note=SURP motif 1 |
| Tgene | SFSWAP | chr12:132423820 | chr12:132250663 | ENST00000541286 | + | 11 | 19 | 459_499 | 650 | 1004 | Repeat | Note=SURP motif 2 |
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FusionGeneSequence for PUS1_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. |
| >In-frame_PUS1_ENST00000443358_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_455aa MAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVS ALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILAKQKLEDRLAAAAREKLAQASKESKEK QLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRT RSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRSRSRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRSR SRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGSSQERSRGVSQEKEAQISSAIVSSVQSKITQDLMAKVRAMLAASKNLQ >In-frame_PUS1_ENST00000443358_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_507aa MAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVS ALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILAKQKLEDRLAAAAREKLAQASKESKEK QLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRT RSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRVTASPGTLRAEPCQSSASVTAAAEPGSYQAASTTTRFDSASSFEGKPGKTSRSR SRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPV >In-frame_PUS1_ENST00000376649_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_483aa MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLM AYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRI LAKQKLEDRLAAAAREKLAQASKESKEKQLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPD RPSSKSKDPPREEEKEKKKKKHKKRSRTRSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRSRSRSPRRRAHSPERRREERSVPTAY RVSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGSSQERSRGVSQEKEAQISSA >In-frame_PUS1_ENST00000376649_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_535aa MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLM AYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRI LAKQKLEDRLAAAAREKLAQASKESKEKQLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPD RPSSKSKDPPREEEKEKKKKKHKKRSRTRSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRVTASPGTLRAEPCQSSASVTAAAEPG SYQAASTTTRFDSASSFEGKPGKTSRSRSRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQ >In-frame_PUS1_ENST00000440818_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_455aa MAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVS ALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILAKQKLEDRLAAAAREKLAQASKESKEK QLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRT RSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRSRSRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRSR SRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGSSQERSRGVSQEKEAQISSAIVSSVQSKITQDLMAKVRAMLAASKNLQ >In-frame_PUS1_ENST00000440818_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_507aa MAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVS ALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILAKQKLEDRLAAAAREKLAQASKESKEK QLQAERKRKAALFLQTLKNPLPEAEAGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRT RSRSPKYHSSSKSRSRSHSKAKHSLPSAYRTVRRSRVTASPGTLRAEPCQSSASVTAAAEPGSYQAASTTTRFDSASSFEGKPGKTSRSR SRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPV >In-frame_PUS1_ENST00000542167_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_430aa MSVAAHTCNLSTSGGQRSKRPGVRDQPGQHHGDLCLQNIKSVFVSFFQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCA RTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILAKQKLEDRLAAAAREKLAQASKESKEKQLQAERKRKAALFLQTLKNPLPEAE AGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRTRSRSPKYHSSSKSRSRSHSKAKHSL PSAYRTVRRSRSRSRSPRRRAHSPERRREERSVPTAYRVSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAP >In-frame_PUS1_ENST00000542167_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_482aa MSVAAHTCNLSTSGGQRSKRPGVRDQPGQHHGDLCLQNIKSVFVSFFQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCA RTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILAKQKLEDRLAAAAREKLAQASKESKEKQLQAERKRKAALFLQTLKNPLPEAE AGKIEESPFSVEESSTTPCPLLTGGRPLPTLEVKPPDRPSSKSKDPPREEEKEKKKKKHKKRSRTRSRSPKYHSSSKSRSRSHSKAKHSL PSAYRTVRRSRVTASPGTLRAEPCQSSASVTAAAEPGSYQAASTTTRFDSASSFEGKPGKTSRSRSRSPRRRAHSPERRREERSVPTAYR VSRSPGASRKRTRSRSPHEKKKKRRSRSRTKSKARSQSVSPSKQAAPRPAAPAAHSAHSASVSPVESRGSSQERSRGVSQEKEAQISSAI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PUS1_ENST00000443358_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_1365nt ATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTC TGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTG CTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCC GCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGT GTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATT CGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAA CAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAG GAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCA CCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACA AGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGG ACAGTGCGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACT GCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGG TCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCG CACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCT TCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAA >In-frame_PUS1_ENST00000443358_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_1521nt ATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTC TGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTG CTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCC GCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGT GTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATT CGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAA CAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAG GAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCA CCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACA AGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGG ACAGTGCGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTGCGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAGCGGCAGCCGAG CCAGGAAGTTATCAGGCAGCCTCGACCACCACCAGATTTGACTCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAAACGTCAAGGTCCCGC TCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCT GGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGG TCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTG GAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAG >In-frame_PUS1_ENST00000376649_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_1449nt ATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGACGGTGGACCCTGCGCCTGGGACCGCGTCCGTCCTGCTCGCCGCGCATGGCC GGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAG GACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATG GCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTC GTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCC GCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATT CTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTT CAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGT CCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGAT AGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCA CGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTG CGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTAC CGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGG ACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCA GCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCA ATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGC >In-frame_PUS1_ENST00000376649_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_1605nt ATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGACGGTGGACCCTGCGCCTGGGACCGCGTCCGTCCTGCTCGCCGCGCATGGCC GGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAG GACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATG GCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTC GTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCC GCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATT CTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTT CAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGT CCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGAT AGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCA CGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTG CGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTGCGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAGCGGCAGCCGAGCCAGGA AGTTATCAGGCAGCCTCGACCACCACCAGATTTGACTCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAAACGTCAAGGTCCCGCTCCCGG TCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCC AGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAG TCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGT CGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAA >In-frame_PUS1_ENST00000440818_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_1365nt ATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTC TGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTG CTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCC GCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGT GTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATT CGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAA CAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAG GAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCA CCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACA AGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGG ACAGTGCGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACT GCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGG TCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCG CACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCT TCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAA >In-frame_PUS1_ENST00000440818_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_1521nt ATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTC TGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTG CTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCC GCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGT GTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATT CGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAA CAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAG GAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCA CCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACA AGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGG ACAGTGCGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTGCGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAGCGGCAGCCGAG CCAGGAAGTTATCAGGCAGCCTCGACCACCACCAGATTTGACTCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAAACGTCAAGGTCCCGC TCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCT GGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGG TCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTG GAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAG >In-frame_PUS1_ENST00000542167_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_1290nt ATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAGCGGCCAGGAGTTCGAGACCAGCCTGGGCAACAT CATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAA GATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCC CGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCAC CTTCCCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAG GAGTCAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAA GCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACT TTAGAAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAA AAAAGATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTT CCCAGTGCCTATCGGACAGTGCGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAG AGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAG AAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCC GCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAA GAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCT >In-frame_PUS1_ENST00000542167_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_1446nt ATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAGCGGCCAGGAGTTCGAGACCAGCCTGGGCAACAT CATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAA GATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCC CGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCAC CTTCCCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAG GAGTCAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAA GCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACT TTAGAAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAA AAAAGATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTT CCCAGTGCCTATCGGACAGTGCGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTGCGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTG ACAGCGGCAGCCGAGCCAGGAAGTTATCAGGCAGCCTCGACCACCACCAGATTTGACTCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAA ACGTCAAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGC GTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACC AAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCC AGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATC GTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGCGCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PUS1_ENST00000443358_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_1805nt AGTTTTGTCCGCGCTCGGCCGCCGTGCAGTCGGTCGTTCCACTTCCGCCTTCGCCCACGTGGTCCGGCTCCGGCTCAGTCAGCCGCGTCG CGAATGGGGCAGGAGCGAGCCTCTCTGGTCCCGACGCGGGTGGCCCGGGTCTCCTCGACTCCTGAGGAAAGCCCACCGGGCGGGGCGGGA GCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGG GCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGA AGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATG ACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGA CAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTC CCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGT CAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTG GGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAG AAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAA GATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCA GTGCCTATCGGACAGTGCGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGA GTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGA GGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGG CCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAG CCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCA AAAACCTGCAAACCAGCGCTTCCTGAGACGGGGCCAGCGGAGGCAGAGCCGGGAGGCTGCGTGGGCTTCTGGGCAGGCTCACGCAGACGC CGGCCACACCATCCACCTGGCCGCCTCCATGGACCCTTGGTGGCTTTTGTAAATTAATTTTTGATGACATTTTGAGTTTTAAGATTTCTG ACCAGCAGTCTCTTACCTGTATATTTGTAAATATATCATGTTTCTGTGAAAATGTATTATGAAATAAAATGGGAGGAAACACCTTTTCTA >In-frame_PUS1_ENST00000443358_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_1826nt AGTTTTGTCCGCGCTCGGCCGCCGTGCAGTCGGTCGTTCCACTTCCGCCTTCGCCCACGTGGTCCGGCTCCGGCTCAGTCAGCCGCGTCG CGAATGGGGCAGGAGCGAGCCTCTCTGGTCCCGACGCGGGTGGCCCGGGTCTCCTCGACTCCTGAGGAAAGCCCACCGGGCGGGGCGGGA GCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGG GCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGA AGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATG ACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGA CAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTC CCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGT CAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTG GGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAG AAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAA GATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCA GTGCCTATCGGACAGTGCGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTGCGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAG CGGCAGCCGAGCCAGGAAGTTATCAGGCAGCCTCGACCACCACCAGATTTGACTCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAAACGT CAAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGA GCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGT CCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCG TCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTT CTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGCGCTTCCT GAGACGGGGCCAGCGGAGGCAGAGCCGGGAGGCTGCGTGGGCTTCTGGGCAGGCTCACGCAGACGCCGGCCACACCATCCACCTGGCCGC >In-frame_PUS1_ENST00000376649_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_2198nt GTGCAGTCGGTCGTTCCACTTCCGCCTTCGCCCACGTGGTCCGGCTCCGGCTCAGTCAGCCGCGTCGCGAATGGGGCAGGAGCGAGCCTC TCTGGTCCCGACGCGGGTGGCCCGGGTCTCCTCGACTCCTGAGGAAAGCCCACCGGGCGGGGCGGGAGGTGAAGAGGCTGGGGAAGTCAG AGGTTAACCTGGGCGTCAGGGGACGTTGGAGTTGATCCGTCAGGGTCCCGGGGCGGTCTGGGGGCAGTAGAGACGGGGCTTGGGCGCGGG GCCTGAGAGGTCAGGGGTCAGCAGGAGTGAGGCTGGGGCGTCCAGGTCCGAGAGGTCAGGGGTCAGCTGGAGAGGGGCTGGGGCGCCGGT TTCCCGGAGGTCAGGGGTCAGAAGGAACAGGGCTGCAGCGTCAGGGTCCGAGAGGTTAGGGGTCGGCAGAGGCGGAGCTGGGGCACTGGG GGTCAGGGGTCGGGGATCAGGGCGGGGTCGGGTGCACTGGTAGCCTGCGCATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGAC GGTGGACCCTGCGCCTGGGACCGCGTCCGTCCTGCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCC AGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCG ACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATG TCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACA TGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTG ACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTG CCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGA CCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTC TACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAG AGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTA GATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTGCGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAG CCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCC GCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCA AGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGG AGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCA TGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGCGCTTCCTGAGACGGGGCCAGCGGAGGCAGAGCCGGGAGGC TGCGTGGGCTTCTGGGCAGGCTCACGCAGACGCCGGCCACACCATCCACCTGGCCGCCTCCATGGACCCTTGGTGGCTTTTGTAAATTAA TTTTTGATGACATTTTGAGTTTTAAGATTTCTGACCAGCAGTCTCTTACCTGTATATTTGTAAATATATCATGTTTCTGTGAAAATGTAT >In-frame_PUS1_ENST00000376649_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_2219nt GTGCAGTCGGTCGTTCCACTTCCGCCTTCGCCCACGTGGTCCGGCTCCGGCTCAGTCAGCCGCGTCGCGAATGGGGCAGGAGCGAGCCTC TCTGGTCCCGACGCGGGTGGCCCGGGTCTCCTCGACTCCTGAGGAAAGCCCACCGGGCGGGGCGGGAGGTGAAGAGGCTGGGGAAGTCAG AGGTTAACCTGGGCGTCAGGGGACGTTGGAGTTGATCCGTCAGGGTCCCGGGGCGGTCTGGGGGCAGTAGAGACGGGGCTTGGGCGCGGG GCCTGAGAGGTCAGGGGTCAGCAGGAGTGAGGCTGGGGCGTCCAGGTCCGAGAGGTCAGGGGTCAGCTGGAGAGGGGCTGGGGCGCCGGT TTCCCGGAGGTCAGGGGTCAGAAGGAACAGGGCTGCAGCGTCAGGGTCCGAGAGGTTAGGGGTCGGCAGAGGCGGAGCTGGGGCACTGGG GGTCAGGGGTCGGGGATCAGGGCGGGGTCGGGTGCACTGGTAGCCTGCGCATGGGCCTCCAGCTTCGCGCGCTGTTGGGAGCCTTCGGAC GGTGGACCCTGCGCCTGGGACCGCGTCCGTCCTGCTCGCCGCGCATGGCCGGGAACGCGGAGCCGCCGCCCGCCGGAGCCGCATGCCCCC AGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACATCCGGCGAAGAAGCTCAAGAGCGGTGGCG ACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGCAAGGGCTACCACGGCATGCAGAGGAATG TCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAGGACA TGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTGATTG ACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCTGCTG CCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTACAGA CCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGCCCTC TACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAAGAAG AGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGGTCTA GATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTGCGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTGCGCG CGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAGCGGCAGCCGAGCCAGGAAGTTATCAGGCAGCCTCGACCACCACCAGATTTGACTCCG CGAGCTCTTTTGAGGGAAAACCTGGTAAAACGTCAAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGG AAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGA AGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGG CCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGG AAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTG CAGCTTCCAAAAACCTGCAAACCAGCGCTTCCTGAGACGGGGCCAGCGGAGGCAGAGCCGGGAGGCTGCGTGGGCTTCTGGGCAGGCTCA >In-frame_PUS1_ENST00000440818_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_1776nt CCCACGTGGTCCGGCTCCGGCTCAGTCAGCCGCGTCGCGAATGGGGCAGGAGCGAGCCTCTCTGGTCCCGACGCGGGTGGCCCGGGTCTC CTCGACTCCTGAGGAAAGCCCACCGGGCGGGGCGGGAGGTGAAGAGGCTGGGGAAGTCAGAGCTCGCCGCGCATGGCCGGGAACGCGGAG CCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACAT CCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGC AAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGC TGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAG GTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGCAAAGCAA AAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTTCAAGCAGAACGT AAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTC GAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGATAGGCCTTCGAGC AAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCACGTTCTCCCAAG TACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTGCGGCGGTCGAGG TCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGC AGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAG GCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCC CCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCC GTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGCGCTTCCTGAGAC GGGGCCAGCGGAGGCAGAGCCGGGAGGCTGCGTGGGCTTCTGGGCAGGCTCACGCAGACGCCGGCCACACCATCCACCTGGCCGCCTCCA TGGACCCTTGGTGGCTTTTGTAAATTAATTTTTGATGACATTTTGAGTTTTAAGATTTCTGACCAGCAGTCTCTTACCTGTATATTTGTA >In-frame_PUS1_ENST00000440818_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_1797nt CCCACGTGGTCCGGCTCCGGCTCAGTCAGCCGCGTCGCGAATGGGGCAGGAGCGAGCCTCTCTGGTCCCGACGCGGGTGGCCCGGGTCTC CTCGACTCCTGAGGAAAGCCCACCGGGCGGGGCGGGAGGTGAAGAGGCTGGGGAAGTCAGAGCTCGCCGCGCATGGCCGGGAACGCGGAG CCGCCGCCCGCCGGAGCCGCATGCCCCCAGGACCGGAGGTCCTGCAGCGGCCGGGCCGGGGGCGACCGCGTCTGGGAGGACGGAGAACAT CCGGCGAAGAAGCTCAAGAGCGGTGGCGACGAGGAGCGGCGCGAGAAGCCGCCCAAGCGGAAGATCGTGCTGCTCATGGCCTATTCGGGC AAGGGCTACCACGGCATGCAGAGGAATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGC TGTATTCCTGAAAATCATGGTGAGGACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAG GTGGTATCCCTGAAGGTGTGGCTGATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGCAAAGCAA AAGCTGGAAGATCGCCTCGCAGCTGCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTTCAAGCAGAACGT AAAAGGAAAGCGGCGTTATTTTTACAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTC GAGGAATCCAGCACTACGCCCTGCCCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGATAGGCCTTCGAGC AAAAGCAAAGATCCACCGAGAGAAGAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCACGTTCTCCCAAG TACCATTCGTCATCCAAGTCCAGGTCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTGCGGCGGTCGAGA GTCACAGCCTCCCCAGGGACGCTGCGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAGCGGCAGCCGAGCCAGGAAGTTATCAGGCA GCCTCGACCACCACCAGATTTGACTCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAAACGTCAAGGTCCCGCTCCCGGTCCCCTCGGAGG AGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGG ACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCC AGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGC CAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGAT CTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGCGCTTCCTGAGACGGGGCCAGCGGAGGCAGAGCCGGG >In-frame_PUS1_ENST00000542167_chr12_132423820_+_SFSWAP_ENST00000261674_chr12_132250663_+_2292nt AGTCAGCCGCGTCGCGAATGGGGCAGGAGCGAGCCTCTCTGGTCCCGACGCGGGTGGCCCGGGTCTCCTCGACTCCTGAGGAAAGCCCAC CGGGCGGGGCGGGAGGTGAAGAGGCTGGGGAAGTCAGAGGTTAACCTGGGCGTCAGGGGACGTTGGAGTTGATCCGTCAGGGTCCCGGGG CGGTCTGGGGGCAGTAGAGACGGGGCTTGGGCGCGGGGCCTGAGAGGTCAGGGGTCACCTCCTGAGTCACTGGGATTAAAAGCATACCTA ATTATTTATTTATTTATTTATTTTTGAGACAGAGTTTTCCTCTGTCACCTAGGCTGGAGTGCAGTGGTACATTATCAGTTCACTGCAACC TCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAAGAGCCCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTC ACCATGTTGGCCAGACTGGTCTCGAACTCCTGATCTCAAGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACTGCACCTGGCCATAGATTACTTTATAGTCAATGTTTTTTTTTTAAAGTATAGGTAGCACCCACGGCACTGATTTTGTAACTGACAGAT TGTGGAAGTAGGTGTATGCACAGGTTCAATCAAACCTGTGTTTTGATTCCATTCCACACTACCCACCCCCTAGCATGGAGCAGCCCGGCC CCAGGGTGAGTGAGCAGAAAACAGTGTTTTCACATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAG CGGCCAGGAGTTCGAGACCAGCCTGGGCAACATCATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGG AATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAG GACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTG ATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCT GCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTA CAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGC CCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAA GAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGG TCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTGCGGCGGTCGAGGTCCCGCTCCCGGTCCCCTCGGAGG AGAGCCCACTCCCCTGAGAGACGGAGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGG ACCCGCTCCAGAAGTCCCCACGAGAAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCC AGCAAGCAGGCAGCGCCCCGGCCCGCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGC CAGGAGCGCTCCAGGGGAGTCTCTCAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGAT CTCATGGCCAAAGTCAGAGCGATGCTTGCAGCTTCCAAAAACCTGCAAACCAGCGCTTCCTGAGACGGGGCCAGCGGAGGCAGAGCCGGG AGGCTGCGTGGGCTTCTGGGCAGGCTCACGCAGACGCCGGCCACACCATCCACCTGGCCGCCTCCATGGACCCTTGGTGGCTTTTGTAAA TTAATTTTTGATGACATTTTGAGTTTTAAGATTTCTGACCAGCAGTCTCTTACCTGTATATTTGTAAATATATCATGTTTCTGTGAAAAT >In-frame_PUS1_ENST00000542167_chr12_132423820_+_SFSWAP_ENST00000541286_chr12_132250663_+_2313nt AGTCAGCCGCGTCGCGAATGGGGCAGGAGCGAGCCTCTCTGGTCCCGACGCGGGTGGCCCGGGTCTCCTCGACTCCTGAGGAAAGCCCAC CGGGCGGGGCGGGAGGTGAAGAGGCTGGGGAAGTCAGAGGTTAACCTGGGCGTCAGGGGACGTTGGAGTTGATCCGTCAGGGTCCCGGGG CGGTCTGGGGGCAGTAGAGACGGGGCTTGGGCGCGGGGCCTGAGAGGTCAGGGGTCACCTCCTGAGTCACTGGGATTAAAAGCATACCTA ATTATTTATTTATTTATTTATTTTTGAGACAGAGTTTTCCTCTGTCACCTAGGCTGGAGTGCAGTGGTACATTATCAGTTCACTGCAACC TCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAAGAGCCCGGCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTC ACCATGTTGGCCAGACTGGTCTCGAACTCCTGATCTCAAGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACTGCACCTGGCCATAGATTACTTTATAGTCAATGTTTTTTTTTTAAAGTATAGGTAGCACCCACGGCACTGATTTTGTAACTGACAGAT TGTGGAAGTAGGTGTATGCACAGGTTCAATCAAACCTGTGTTTTGATTCCATTCCACACTACCCACCCCCTAGCATGGAGCAGCCCGGCC CCAGGGTGAGTGAGCAGAAAACAGTGTTTTCACATGAGCGTGGCAGCTCACACTTGTAATCTCAGCACTTCAGGAGGCCAGAGGAGTAAG CGGCCAGGAGTTCGAGACCAGCCTGGGCAACATCATGGCGACCTCTGTCTGCAAAATATAAAATCTGTTTTTGTCTCCTTTTTCCAGAGG AATGTCGGGTCCTCACAATTCAAAACAATTGAAGATGACTTGGTGTCCGCCCTCGTCCGGTCAGGCTGTATTCCTGAAAATCATGGTGAG GACATGAGGAAAATGTCCTTCCAGCGCTGCGCCCGGACAGACAAGGGTGTGTCCGCAGCCGGCCAGGTGGTATCCCTGAAGGTGTGGCTG ATTGACGACATTCTAGAAAAGATCAACAGCCACCTTCCCTCTCACATTCGGATTCTGGCAAAGCAAAAGCTGGAAGATCGCCTCGCAGCT GCTGCCCGGGAAAAGCTGGCCCAGGCGTCTAAGGAGTCAAAAGAGAAACAGCTTCAAGCAGAACGTAAAAGGAAAGCGGCGTTATTTTTA CAGACCCTCAAAAATCCTCTGCCGGAAGCAGAAGCTGGGAAAATTGAGGAGAGTCCTTTCAGTGTCGAGGAATCCAGCACTACGCCCTGC CCTCTACTGACTGGAGGCAGGCCTCTGCCTACTTTAGAAGTTAAACCACCCGATAGGCCTTCGAGCAAAAGCAAAGATCCACCGAGAGAA GAAGAGAAAGAAAAGAAAAAGAAAAAGCACAAAAAAAGATCTCGAACAAGATCACGTTCTCCCAAGTACCATTCGTCATCCAAGTCCAGG TCTAGATCACACTCAAAAGCAAAGCATTCTCTTCCCAGTGCCTATCGGACAGTGCGGCGGTCGAGAGTCACAGCCTCCCCAGGGACGCTG CGCGCGGAGCCCTGTCAGAGCAGCGCGTCAGTGACAGCGGCAGCCGAGCCAGGAAGTTATCAGGCAGCCTCGACCACCACCAGATTTGAC TCCGCGAGCTCTTTTGAGGGAAAACCTGGTAAAACGTCAAGGTCCCGCTCCCGGTCCCCTCGGAGGAGAGCCCACTCCCCTGAGAGACGG AGGGAAGAGAGGAGTGTGCCCACTGCCTACCGCGTGAGCCGCAGCCCTGGGGCCAGTAGGAAGCGGACCCGCTCCAGAAGTCCCCACGAG AAGAAGAAGAAGAGGCGGTCCCGGTCGCGGACCAAGTCCAAGGCCAGGTCTCAGTCGGTGTCACCCAGCAAGCAGGCAGCGCCCCGGCCC GCGGCCCCCGCGGCCCACTCGGCGCACTCAGCCAGCGTCTCCCCTGTGGAGAGTCGGGGCTCCAGCCAGGAGCGCTCCAGGGGAGTCTCT CAGGAAAAAGAAGCCCAGATCTCTTCAGCAATCGTTTCTTCCGTGCAGAGCAAAATCACTCAGGATCTCATGGCCAAAGTCAGAGCGATG CTTGCAGCTTCCAAAAACCTGCAAACCAGCGCTTCCTGAGACGGGGCCAGCGGAGGCAGAGCCGGGAGGCTGCGTGGGCTTCTGGGCAGG |
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FusionGenePPI for PUS1_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 |
| PUS1 | ICT1, PSMD11, ECT2, ACTR3, AGL, ARPC2, BCAT1, FARSA, IDE, NCBP1, NRD1, NSUN2, PFDN1, PFDN5, GTF2F1, P3H1, NARS, PPP1R12A, VPS25, RPA1, SP100, VPS29, EGFR, FBXW11, THUMPD1, TRPV5, OXLD1, NMD3, PCNA, PFDN4, PSMD8, TRMT6, WDR12, WDR3, CEP19, PPM1G, THUMPD3, MRPL12, ATP5D, PCDHB11, YBEY, TSFM, TUFM, GATC, HSPD1, USP47, MRPS11 | 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 PUS1_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 PUS1_SFSWAP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PUS1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | PUS1 | C1838103 | MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SFSWAP | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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