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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:ASAH1-SF3B3 (FusionGDB2 ID:6944) |
Fusion Gene Summary for ASAH1-SF3B3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASAH1-SF3B3 | Fusion gene ID: 6944 | Hgene | Tgene | Gene symbol | ASAH1 | SF3B3 | Gene ID | 427 | 23450 |
| Gene name | N-acylsphingosine amidohydrolase 1 | splicing factor 3b subunit 3 | |
| Synonyms | AC|ACDase|ASAH|PHP|PHP32|SMAPME | RSE1|SAP130|SF3b130|STAF130 | |
| Cytomap | 8p22 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acid ceramidaseN-acylethanolamine hydrolase ASAH1N-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein | splicing factor 3B subunit 3SAP 130pre-mRNA splicing factor SF3b, 130 kDa subunitspliceosome-associated protein 130 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q13510 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000417108, ENST00000520051, ENST00000262097, ENST00000314146, ENST00000381733, ENST00000520781, | ENST00000302516, | |
| Fusion gene scores | * DoF score | 15 X 16 X 7=1680 | 8 X 10 X 4=320 |
| # samples | 16 | 10 | |
| ** MAII score | log2(16/1680*10)=-3.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/320*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ASAH1 [Title/Abstract] AND SF3B3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ASAH1(17933050)-SF3B3(70575572), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | ASAH1 | GO:0046512 | sphingosine biosynthetic process | 12815059 |
| Hgene | ASAH1 | GO:0046513 | ceramide biosynthetic process | 12764132|12815059 |
| Hgene | ASAH1 | GO:0046514 | ceramide catabolic process | 12815059 |
| Tgene | SF3B3 | GO:0000398 | mRNA splicing, via spliceosome | 28781166|29360106 |
| Tgene | SF3B3 | GO:0042177 | negative regulation of protein catabolic process | 23951410 |
| Fusion gene breakpoints across ASAH1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across SF3B3 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| 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 |
| ChiTaRS5.0 | N/A | DA755770 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
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Fusion Gene ORF analysis for ASAH1-SF3B3 |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5UTR-3CDS | ENST00000417108 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
| 5UTR-3CDS | ENST00000520051 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
| In-frame | ENST00000262097 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
| In-frame | ENST00000314146 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
| In-frame | ENST00000381733 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
| In-frame | ENST00000520781 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + |
| 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) |
| ENST00000262097 | ASAH1 | chr8 | 17933050 | - | ENST00000302516 | SF3B3 | chr16 | 70575572 | + | 6128 | 437 | 15 | 3023 | 1002 |
| ENST00000381733 | ASAH1 | chr8 | 17933050 | - | ENST00000302516 | SF3B3 | chr16 | 70575572 | + | 6031 | 340 | 5 | 2926 | 973 |
| ENST00000520781 | ASAH1 | chr8 | 17933050 | - | ENST00000302516 | SF3B3 | chr16 | 70575572 | + | 6128 | 437 | 15 | 3023 | 1002 |
| ENST00000314146 | ASAH1 | chr8 | 17933050 | - | ENST00000302516 | SF3B3 | chr16 | 70575572 | + | 6048 | 357 | 22 | 2943 | 973 |
| 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 |
| ENST00000262097 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + | 0.000310542 | 0.99968946 |
| ENST00000381733 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + | 0.000741505 | 0.99925846 |
| ENST00000520781 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + | 0.000310542 | 0.99968946 |
| ENST00000314146 | ENST00000302516 | ASAH1 | chr8 | 17933050 | - | SF3B3 | chr16 | 70575572 | + | 0.000744184 | 0.99925584 |
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Fusion Genomic Features for ASAH1-SF3B3 |
| 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) |
| ASAH1 | chr8 | 17933049 | - | SF3B3 | chr16 | 70575571 | + | 1.18E-07 | 0.9999999 |
| ASAH1 | chr8 | 17933049 | - | SF3B3 | chr16 | 70575571 | + | 1.18E-07 | 0.9999999 |
| 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. |
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| 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 ASAH1-SF3B3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:17933050/chr16:70575572) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASAH1 | . |
| FUNCTION: Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821). {ECO:0000250|UniProtKB:Q9WV54, ECO:0000269|PubMed:10610716, ECO:0000269|PubMed:11451951, ECO:0000269|PubMed:12764132, ECO:0000269|PubMed:12815059, ECO:0000269|PubMed:15655246, ECO:0000269|PubMed:17713573, ECO:0000269|PubMed:22261821, ECO:0000269|PubMed:7744740, ECO:0000303|PubMed:10610716}.; FUNCTION: [Isoform 2]: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity. {ECO:0000305|PubMed:22927646}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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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Fusion Gene Sequence for ASAH1-SF3B3 |
| 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. |
| >6944_6944_1_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000262097_SF3B3_chr16_70575572_ENST00000302516_length(transcript)=6128nt_BP=437nt GGCTCGGTCCGACTATTGCCCGCGGTGGGGGAGGGGGATGGATCACGCCACGCGCCAAAGGCGATCGCGACTCTCCTTCTGCAGGTAGCC TGGAAGGCTCTCTCTCTTTCTCTACGCCACCCTTTTCGTGGCACTGAAAAGCCCCGTCCTCTCCTCCCAGTCCCGCCTCCTCCGAGCGTT CCCCCTACTGCCTGGAATGGTGCGGTCCCAGGTCGCGGGTCACGCGGCGGAGGGGGCGTGGCCTGCCCCCGGCCCAGCCGGCTCTTCTTT GCCTCTGCTGGAGTCCGGGGAGTGGCGTTGGCTGCTAGAGCGATGCCGGGCCGGAGTTGCGTCGCCTTAGTCCTCCTGGCTGCCGCCGTC AGCTGTGCCGTCGCGCAGCACGCGCCGCCGTGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACTTACTTATATCAA ATTGCACATCTTGGAGATGATGATGAAGAACCTGAGTTTTCATCAGCCATGCCTCTGGAAGAAGGAGACACATTCTTTTTTCAGCCAAGA CCACTTAAAAACCTTGTGCTGGTTGATGAGTTGGACAGCCTCTCTCCCATTCTGTTTTGCCAGATAGCTGATCTGGCCAATGAAGATACT CCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTGTCAGAAATGGCTGTTTCT GAGCTACCTGGTAACCCCAACGCTGTCTGGACAGTGCGTCGACACATTGAAGATGAGTTTGATGCCTACATCATTGTGTCTTTCGTGAAT GCCACCCTAGTGTTGTCCATTGGAGAAACTGTAGAAGAAGTGACTGACTCTGGGTTCCTGGGGACCACCCCGACCTTGTCCTGCTCCTTA TTAGGAGATGATGCCTTGGTGCAGGTCTATCCAGATGGCATTCGGCACATACGAGCAGACAAGAGAGTCAATGAGTGGAAGACCCCTGGA AAGAAAACAATTGTGAAGTGTGCAGTGAACCAGCGACAAGTGGTGATTGCCCTGACAGGAGGAGAGCTGGTCTATTTCGAGATGGATCCT TCAGGACAGCTGAATGAGTACACAGAACGGAAGGAGATGTCAGCAGATGTGGTGTGCATGAGTCTGGCCAATGTACCCCCTGGAGAGCAG CGGTCTCGCTTCCTGGCTGTGGGGCTTGTGGACAACACTGTCAGAATCATCTCCCTGGATCCCTCAGACTGTTTGCAACCTCTAAGCATG CAGGCTCTCCCAGCCCAGCCTGAGTCCTTGTGTATCGTGGAAATGGGTGGGACTGAGAAGCAGGATGAGCTGGGTGAGAGGGGCTCGATT GGCTTCCTATACCTGAATATTGGGCTACAGAACGGTGTGCTGCTGAGGACTGTCTTGGACCCTGTCACTGGGGATTTGTCTGATACTCGC ACTCGGTACCTGGGGTCCCGTCCTGTGAAGCTCTTCCGAGTCCGAATGCAAGGCCAGGAGGCAGTATTGGCCATGTCAAGCCGCTCATGG TTGAGCTATTCTTACCAATCTCGCTTCCATCTCACCCCACTGTCTTACGAGACACTGGAATTTGCATCGGGTTTTGCCTCGGAACAGTGT CCCGAGGGCATTGTGGCCATCTCCACCAACACCCTACGGATTTTGGCATTAGAGAAGCTCGGTGCTGTCTTCAATCAAGTAGCCTTCCCA CTGCAGTACACACCCAGGAAATTTGTCATCCACCCTGAGAGTAACAACCTTATTATCATTGAAACGGACCACAATGCCTACACTGAGGCC ACGAAAGCTCAGAGAAAGCAGCAGATGGCAGAGGAAATGGTGGAAGCAGCAGGGGAGGATGAGCGGGAGCTGGCCGCAGAGATGGCAGCA GCATTCCTCAATGAAAACCTCCCTGAATCCATCTTTGGAGCTCCCAAGGCTGGCAATGGGCAGTGGGCCTCTGTGATCCGAGTGATGAAT CCCATTCAAGGGAACACACTGGACCTTGTCCAGCTGGAACAGAATGAGGCAGCTTTTAGTGTGGCTGTGTGCAGGTTTTCCAACACTGGT GAAGACTGGTATGTGCTGGTGGGTGTGGCCAAGGACCTGATACTAAACCCCCGATCTGTGGCAGGGGGCTTCGTCTATACTTACAAGCTT GTGAACAATGGGGAAAAACTGGAGTTTTTGCACAAGACTCCTGTGGAAGAGGTCCCTGCTGCTATTGCCCCATTCCAGGGGAGGGTGTTG ATTGGTGTGGGGAAGCTGTTGCGTGTCTATGACCTGGGAAAGAAGAAGTTACTCCGAAAATGTGAGAATAAGCATATTGCCAATTATATC TCTGGGATCCAGACTATCGGACATAGGGTAATTGTATCTGATGTCCAAGAAAGTTTCATCTGGGTTCGCTACAAGCGTAATGAAAACCAG CTTATCATCTTTGCTGATGATACCTACCCCCGATGGGTCACTACAGCCAGCCTCCTGGACTATGACACTGTGGCTGGGGCAGACAAGTTT GGCAACATATGTGTGGTGAGGCTCCCACCTAACACCAATGATGAAGTAGATGAGGATCCTACAGGAAACAAAGCCCTGTGGGACCGTGGC TTGCTCAATGGGGCCTCCCAGAAGGCAGAGGTGATCATGAACTACCATGTCGGGGAGACGGTGCTGTCCTTGCAGAAGACCACGCTGATC CCTGGAGGCTCAGAATCACTTGTCTATACCACCTTGTCTGGAGGAATTGGCATCCTTGTGCCATTCACGTCCCATGAGGACCATGACTTC TTCCAGCATGTGGAAATGCACCTGCGGTCTGAACATCCCCCTCTCTGTGGGCGGGACCACCTCAGCTTTCGCTCCTACTACTTCCCTGTG AAGAATGTGATTGATGGAGACCTCTGTGAGCAGTTCAATTCCATGGAACCCAACAAACAAAAGAACGTCTCTGAAGAACTGGACCGAACC CCACCCGAAGTGTCCAAGAAACTCGAGGATATCCGGACCCGCTACGCCTTCTGAGCCCTCCTTTCCCGGTGGGGCTTGCCAGAGACTGTG TGTTTTGTTTCCCCCACCACCATCACTGCCACCTGGCTTCTGCCATGTGGCAGGAGGGTGACTGGATAATTAAGACTGCATTATGAAAGT CAACAGCTCTTTCCCCTCAGCTCTTCTCCTGGAATGACTGGCTTCCCCTCAAATTGGCACTGAGATTTGCTACACTTCTCCCCACCTGGT ACATGATACATGACCCCAGGTTCCAGTGTAGAACCTGAGTCCCCCATTCCCCAAAGCCATCCCTGCATTGATATGTCTTGACTCTCCTGT CTACTTTTGCACACACCCTTAATTTTTAATTGGTTTTCTTGTAAATACAGTTTTGTACAATGTTATCTCTGTGGGAGGAAGGAGGCAGGC TGTGGTGGGACTGGGTAGGGTATAGTATCACTCCTGAGTTCCACTGCTCTAGAATCTAACCAGAAATAGAAACCTAGTTTTTAAGGTGAC TGGCATCCATGTGTCTTGTTCTGGAGATGAGGATGTAGGTGGGAGGTTTGAACCCAAGTTAGAGCAGGAAGAACTGAGTAGACTCCTTCC TTCCAGATACCGACTTGGACTTGCGGCACTCTGTGGCTCCCCACCCCCAGGTCTGTGGTGGTTTCTTTGTTTTTTCCTGGTTCTTTTTGC TGTGCTGATGAAACATGACCTCAATAACCATGTGTATACCCACCCCTCTTCCCACTGGGTATTGAGGAAGGGTGGCTGATTCTTCCTCCT CTTCTACTCTGAGGATGTTAGTATGGGGATTTTAGCATGAATTCTAGCTGGGGAGTCTTAACAGATGCCCCTTTTACTGATACAGCACCT AAAGCGATCTTTGGCTCCATAGGACCATAGGAAGGGTCAGTACAGAAGAACCTAGATACTGCCCTGCCCCTGAGAACTGTGTATATGTGG GGCCTGTCTGCAGCACCCATCTCAGGTGGGTTCCAGAGGGCCTTTAGGGTATAATGAGAGCCTGTTAGGTGGAAGAGGCCCAGTTCCAGA AATGTTCCAGCCCACCCCTGAGAATTCCTCCTGTTTAGTTGTGTGGGAAGCCCTCGTCTTCCAGGCTGTCCTTGCGCCTTGAACCTGGAG AAGTGAGCTCACTGTTCTCAATACTTCACAAATGTAAAACTTTCTTTCGTCTGCATGTGCTCAGCCATCTAAATTGAGCAAATGATCTGG TGAGCACTGGGTTAGAATCAGGAATGGTGGAATACAATCTGAACCTCTCAGAGCCCAGAACAGAGGGTTCCTGACACTGTGACACTGTCT CCTGGAACTAAGTATCTCTTGAATCATGACTTGGTTTTAGATCAGTCAAGAGAGACCCAGGTTTTGCCAGGAATCGAATCCCTAAATAAC ATGTTTTTTTCTCACTTAGCTCATGAATTTGCATAGTAGACAGTAGTTCTGAATTAGATTTTGAAAACCTAATTTCAGGGCTCATTTTTT CCTGTGGCCCTAAATCCATTCTATCAAATTGTGTGATACTGACATGCAGTCATCTGAGGAACTCAGCGTAGATACTTGAGCAGCTCCTCG CCTCTTTTCTAACTCAAGTTTGACTAAAATACATACACTCCGTACAGAAGGTAGGGGGTTATGTAAGAAAGGAAAACCTAATCTATGGAA TCAGGAGTTGTCACCACCGAGCTTCCTCTGGAAGTCTGCCCATCAGCTTGCTTGTTCTCTGTTAAGAGGAAGGGCTAGGACAAGGATTTG GGCTTGAATATGTGGAAAGGAATTTTCATAGTTGTTGCTGCAGGACCTACAAAAGTTTAAAATTAGATTGGATGTGACTCAATGACAAGT CCCATCTGTGTAATTGTTAAGGGGACCTGATTGACTCCTGTGGTTTGATTGAGCAACCAGGTAAATAGAGACCTCTCTCCAGCTTTGGCA AAACCCATCAGAGGCTGCTGCAGAACTCAGACAGAGGGATCTGCCCTTGGGTTTGCTTCCATCCTGTTCCATTGCTAAGCCCTTGTGACT TGGATCCTAGGACTGAAAAGTTTTTAGCTGCCTCAGCTTTCCCCTGACCTTACTGGCAGAGGTTCTGCAGATGTTTCCTTTGGAAGATCT CTTGCCAAGAATAGCATTCCTTTGGAGGAGGGGGGTTCTAGTTGGAATGTTGCTTTTCTTGGTTAGTGTAAATGTATTGCTAGTGAGACA GCTGCCGGCGCTGGAAAAGGCTCGTCTCACAGGGAGAGTGCTGGTCCCCAGAATGTGTGCTGTTCCCACGCTGCTGCCTTTCTTGAGCTT GTTAGAGGAAAGCCAGAAAGGCATTCAGATGGGATCAGTCTGGCTTTCAAATTTTTTTTAATTCCTAAGTTCTGTTTTATTTTTTAATTT TTTAAAAAAAATTTTATTAGAGACAGTCTCTCTCTCTTGCCTAGCTGGGAGTGCAGTGGAGTGATCATAGCTCACTGAGGCTTGAACTCC TGGGCTCGAGCAATCCACCTCAGCCTCCAGAGTAGGGGAGACTACAGATGTGTGCCACCATACTCAGCTAATTTTTAAACTTTTGTAGAG ACAGGGTCTCCCTGTGTTGCCCAGGCTGGCCTCGAACTCCTGACCTCAAAAAATCTTCCTGCCTTGGCCTCCCAAAGCACTGGGATTATA GGTGTGAGCCATTGCGCCTGGTCATAAATTCTTGTTTTTTTGTTTGTTTGTTTATTAGAGATGGAATCTCTCTCTCTTGACCAGGCTAGA GGGCTGTGGTGCGATCTCAGCCCACTGCAACCTCTATCTCCTGAGCTCAAGCGATCCTCCTTAGCTTCCCAAATAGCTGGAACTACAGGC ATGTGCCATCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGTTTTACCATGTTGGACAGGGTGGTCTCGAACTCCTGGCCTAAAG TGGTCCACCTAGCTCAGCCTACCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCCTCTAAATTCTGTTTTCTATTCAAAGTA AAAATGACATGTGTTTGAGTCATCCACTTGCTCATTTGCATATGGAATATTGTATGTGAATATTTTATTACACCCTTAAAATTAATTTTC >6944_6944_1_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000262097_SF3B3_chr16_70575572_ENST00000302516_length(amino acids)=1002AA_BP=139 MPAVGEGDGSRHAPKAIATLLLQVAWKALSLSLRHPFRGTEKPRPLLPVPPPPSVPPTAWNGAVPGRGSRGGGGVACPRPSRLFFASAGV RGVALAARAMPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYLYQIAHLGDDDEEPEFSSAMPLEEGDTFFFQPRPLKNL VLVDELDSLSPILFCQIADLANEDTPQLYVACGRGPRSSLRVLRHGLEVSEMAVSELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVL SIGETVEEVTDSGFLGTTPTLSCSLLGDDALVQVYPDGIRHIRADKRVNEWKTPGKKTIVKCAVNQRQVVIALTGGELVYFEMDPSGQLN EYTERKEMSADVVCMSLANVPPGEQRSRFLAVGLVDNTVRIISLDPSDCLQPLSMQALPAQPESLCIVEMGGTEKQDELGERGSIGFLYL NIGLQNGVLLRTVLDPVTGDLSDTRTRYLGSRPVKLFRVRMQGQEAVLAMSSRSWLSYSYQSRFHLTPLSYETLEFASGFASEQCPEGIV AISTNTLRILALEKLGAVFNQVAFPLQYTPRKFVIHPESNNLIIIETDHNAYTEATKAQRKQQMAEEMVEAAGEDERELAAEMAAAFLNE NLPESIFGAPKAGNGQWASVIRVMNPIQGNTLDLVQLEQNEAAFSVAVCRFSNTGEDWYVLVGVAKDLILNPRSVAGGFVYTYKLVNNGE KLEFLHKTPVEEVPAAIAPFQGRVLIGVGKLLRVYDLGKKKLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFA DDTYPRWVTTASLLDYDTVAGADKFGNICVVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQKAEVIMNYHVGETVLSLQKTTLIPGGSE SLVYTTLSGGIGILVPFTSHEDHDFFQHVEMHLRSEHPPLCGRDHLSFRSYYFPVKNVIDGDLCEQFNSMEPNKQKNVSEELDRTPPEVS -------------------------------------------------------------- >6944_6944_2_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000314146_SF3B3_chr16_70575572_ENST00000302516_length(transcript)=6048nt_BP=357nt GGGCAGGATTTCCTGCTGGACTTTGAAATCCAACCCGGTCACCTACCCGCGCGACTGTGTCCACGGATGGCACGAAAGCCAAGCGAGTCC CCCTGCCGAGCTACTCGCGTCCGCCTCCTCCCAAGCTGAGCTCTGCTCCGCCCACCTGAGTCCTTCGCCAGTTAGGAGGAAACACAGCCG CTTAATGAACTGCTGCATCGGGCTGGGAGAGAAAGCTCGCGGGTCCCACCGGGCCTCCTACCCAAGTCTCAGCGCGCTTTTCACCGAGGC CTCAATTCTGGGATTTGGCAGCTTTGCTGTGAAAGCCCAATGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACTTA CTTATATCAAATTGCACATCTTGGAGATGATGATGAAGAACCTGAGTTTTCATCAGCCATGCCTCTGGAAGAAGGAGACACATTCTTTTT TCAGCCAAGACCACTTAAAAACCTTGTGCTGGTTGATGAGTTGGACAGCCTCTCTCCCATTCTGTTTTGCCAGATAGCTGATCTGGCCAA TGAAGATACTCCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTGTCAGAAAT GGCTGTTTCTGAGCTACCTGGTAACCCCAACGCTGTCTGGACAGTGCGTCGACACATTGAAGATGAGTTTGATGCCTACATCATTGTGTC TTTCGTGAATGCCACCCTAGTGTTGTCCATTGGAGAAACTGTAGAAGAAGTGACTGACTCTGGGTTCCTGGGGACCACCCCGACCTTGTC CTGCTCCTTATTAGGAGATGATGCCTTGGTGCAGGTCTATCCAGATGGCATTCGGCACATACGAGCAGACAAGAGAGTCAATGAGTGGAA GACCCCTGGAAAGAAAACAATTGTGAAGTGTGCAGTGAACCAGCGACAAGTGGTGATTGCCCTGACAGGAGGAGAGCTGGTCTATTTCGA GATGGATCCTTCAGGACAGCTGAATGAGTACACAGAACGGAAGGAGATGTCAGCAGATGTGGTGTGCATGAGTCTGGCCAATGTACCCCC TGGAGAGCAGCGGTCTCGCTTCCTGGCTGTGGGGCTTGTGGACAACACTGTCAGAATCATCTCCCTGGATCCCTCAGACTGTTTGCAACC TCTAAGCATGCAGGCTCTCCCAGCCCAGCCTGAGTCCTTGTGTATCGTGGAAATGGGTGGGACTGAGAAGCAGGATGAGCTGGGTGAGAG GGGCTCGATTGGCTTCCTATACCTGAATATTGGGCTACAGAACGGTGTGCTGCTGAGGACTGTCTTGGACCCTGTCACTGGGGATTTGTC TGATACTCGCACTCGGTACCTGGGGTCCCGTCCTGTGAAGCTCTTCCGAGTCCGAATGCAAGGCCAGGAGGCAGTATTGGCCATGTCAAG CCGCTCATGGTTGAGCTATTCTTACCAATCTCGCTTCCATCTCACCCCACTGTCTTACGAGACACTGGAATTTGCATCGGGTTTTGCCTC GGAACAGTGTCCCGAGGGCATTGTGGCCATCTCCACCAACACCCTACGGATTTTGGCATTAGAGAAGCTCGGTGCTGTCTTCAATCAAGT AGCCTTCCCACTGCAGTACACACCCAGGAAATTTGTCATCCACCCTGAGAGTAACAACCTTATTATCATTGAAACGGACCACAATGCCTA CACTGAGGCCACGAAAGCTCAGAGAAAGCAGCAGATGGCAGAGGAAATGGTGGAAGCAGCAGGGGAGGATGAGCGGGAGCTGGCCGCAGA GATGGCAGCAGCATTCCTCAATGAAAACCTCCCTGAATCCATCTTTGGAGCTCCCAAGGCTGGCAATGGGCAGTGGGCCTCTGTGATCCG AGTGATGAATCCCATTCAAGGGAACACACTGGACCTTGTCCAGCTGGAACAGAATGAGGCAGCTTTTAGTGTGGCTGTGTGCAGGTTTTC CAACACTGGTGAAGACTGGTATGTGCTGGTGGGTGTGGCCAAGGACCTGATACTAAACCCCCGATCTGTGGCAGGGGGCTTCGTCTATAC TTACAAGCTTGTGAACAATGGGGAAAAACTGGAGTTTTTGCACAAGACTCCTGTGGAAGAGGTCCCTGCTGCTATTGCCCCATTCCAGGG GAGGGTGTTGATTGGTGTGGGGAAGCTGTTGCGTGTCTATGACCTGGGAAAGAAGAAGTTACTCCGAAAATGTGAGAATAAGCATATTGC CAATTATATCTCTGGGATCCAGACTATCGGACATAGGGTAATTGTATCTGATGTCCAAGAAAGTTTCATCTGGGTTCGCTACAAGCGTAA TGAAAACCAGCTTATCATCTTTGCTGATGATACCTACCCCCGATGGGTCACTACAGCCAGCCTCCTGGACTATGACACTGTGGCTGGGGC AGACAAGTTTGGCAACATATGTGTGGTGAGGCTCCCACCTAACACCAATGATGAAGTAGATGAGGATCCTACAGGAAACAAAGCCCTGTG GGACCGTGGCTTGCTCAATGGGGCCTCCCAGAAGGCAGAGGTGATCATGAACTACCATGTCGGGGAGACGGTGCTGTCCTTGCAGAAGAC CACGCTGATCCCTGGAGGCTCAGAATCACTTGTCTATACCACCTTGTCTGGAGGAATTGGCATCCTTGTGCCATTCACGTCCCATGAGGA CCATGACTTCTTCCAGCATGTGGAAATGCACCTGCGGTCTGAACATCCCCCTCTCTGTGGGCGGGACCACCTCAGCTTTCGCTCCTACTA CTTCCCTGTGAAGAATGTGATTGATGGAGACCTCTGTGAGCAGTTCAATTCCATGGAACCCAACAAACAAAAGAACGTCTCTGAAGAACT GGACCGAACCCCACCCGAAGTGTCCAAGAAACTCGAGGATATCCGGACCCGCTACGCCTTCTGAGCCCTCCTTTCCCGGTGGGGCTTGCC AGAGACTGTGTGTTTTGTTTCCCCCACCACCATCACTGCCACCTGGCTTCTGCCATGTGGCAGGAGGGTGACTGGATAATTAAGACTGCA TTATGAAAGTCAACAGCTCTTTCCCCTCAGCTCTTCTCCTGGAATGACTGGCTTCCCCTCAAATTGGCACTGAGATTTGCTACACTTCTC CCCACCTGGTACATGATACATGACCCCAGGTTCCAGTGTAGAACCTGAGTCCCCCATTCCCCAAAGCCATCCCTGCATTGATATGTCTTG ACTCTCCTGTCTACTTTTGCACACACCCTTAATTTTTAATTGGTTTTCTTGTAAATACAGTTTTGTACAATGTTATCTCTGTGGGAGGAA GGAGGCAGGCTGTGGTGGGACTGGGTAGGGTATAGTATCACTCCTGAGTTCCACTGCTCTAGAATCTAACCAGAAATAGAAACCTAGTTT TTAAGGTGACTGGCATCCATGTGTCTTGTTCTGGAGATGAGGATGTAGGTGGGAGGTTTGAACCCAAGTTAGAGCAGGAAGAACTGAGTA GACTCCTTCCTTCCAGATACCGACTTGGACTTGCGGCACTCTGTGGCTCCCCACCCCCAGGTCTGTGGTGGTTTCTTTGTTTTTTCCTGG TTCTTTTTGCTGTGCTGATGAAACATGACCTCAATAACCATGTGTATACCCACCCCTCTTCCCACTGGGTATTGAGGAAGGGTGGCTGAT TCTTCCTCCTCTTCTACTCTGAGGATGTTAGTATGGGGATTTTAGCATGAATTCTAGCTGGGGAGTCTTAACAGATGCCCCTTTTACTGA TACAGCACCTAAAGCGATCTTTGGCTCCATAGGACCATAGGAAGGGTCAGTACAGAAGAACCTAGATACTGCCCTGCCCCTGAGAACTGT GTATATGTGGGGCCTGTCTGCAGCACCCATCTCAGGTGGGTTCCAGAGGGCCTTTAGGGTATAATGAGAGCCTGTTAGGTGGAAGAGGCC CAGTTCCAGAAATGTTCCAGCCCACCCCTGAGAATTCCTCCTGTTTAGTTGTGTGGGAAGCCCTCGTCTTCCAGGCTGTCCTTGCGCCTT GAACCTGGAGAAGTGAGCTCACTGTTCTCAATACTTCACAAATGTAAAACTTTCTTTCGTCTGCATGTGCTCAGCCATCTAAATTGAGCA AATGATCTGGTGAGCACTGGGTTAGAATCAGGAATGGTGGAATACAATCTGAACCTCTCAGAGCCCAGAACAGAGGGTTCCTGACACTGT GACACTGTCTCCTGGAACTAAGTATCTCTTGAATCATGACTTGGTTTTAGATCAGTCAAGAGAGACCCAGGTTTTGCCAGGAATCGAATC CCTAAATAACATGTTTTTTTCTCACTTAGCTCATGAATTTGCATAGTAGACAGTAGTTCTGAATTAGATTTTGAAAACCTAATTTCAGGG CTCATTTTTTCCTGTGGCCCTAAATCCATTCTATCAAATTGTGTGATACTGACATGCAGTCATCTGAGGAACTCAGCGTAGATACTTGAG CAGCTCCTCGCCTCTTTTCTAACTCAAGTTTGACTAAAATACATACACTCCGTACAGAAGGTAGGGGGTTATGTAAGAAAGGAAAACCTA ATCTATGGAATCAGGAGTTGTCACCACCGAGCTTCCTCTGGAAGTCTGCCCATCAGCTTGCTTGTTCTCTGTTAAGAGGAAGGGCTAGGA CAAGGATTTGGGCTTGAATATGTGGAAAGGAATTTTCATAGTTGTTGCTGCAGGACCTACAAAAGTTTAAAATTAGATTGGATGTGACTC AATGACAAGTCCCATCTGTGTAATTGTTAAGGGGACCTGATTGACTCCTGTGGTTTGATTGAGCAACCAGGTAAATAGAGACCTCTCTCC AGCTTTGGCAAAACCCATCAGAGGCTGCTGCAGAACTCAGACAGAGGGATCTGCCCTTGGGTTTGCTTCCATCCTGTTCCATTGCTAAGC CCTTGTGACTTGGATCCTAGGACTGAAAAGTTTTTAGCTGCCTCAGCTTTCCCCTGACCTTACTGGCAGAGGTTCTGCAGATGTTTCCTT TGGAAGATCTCTTGCCAAGAATAGCATTCCTTTGGAGGAGGGGGGTTCTAGTTGGAATGTTGCTTTTCTTGGTTAGTGTAAATGTATTGC TAGTGAGACAGCTGCCGGCGCTGGAAAAGGCTCGTCTCACAGGGAGAGTGCTGGTCCCCAGAATGTGTGCTGTTCCCACGCTGCTGCCTT TCTTGAGCTTGTTAGAGGAAAGCCAGAAAGGCATTCAGATGGGATCAGTCTGGCTTTCAAATTTTTTTTAATTCCTAAGTTCTGTTTTAT TTTTTAATTTTTTAAAAAAAATTTTATTAGAGACAGTCTCTCTCTCTTGCCTAGCTGGGAGTGCAGTGGAGTGATCATAGCTCACTGAGG CTTGAACTCCTGGGCTCGAGCAATCCACCTCAGCCTCCAGAGTAGGGGAGACTACAGATGTGTGCCACCATACTCAGCTAATTTTTAAAC TTTTGTAGAGACAGGGTCTCCCTGTGTTGCCCAGGCTGGCCTCGAACTCCTGACCTCAAAAAATCTTCCTGCCTTGGCCTCCCAAAGCAC TGGGATTATAGGTGTGAGCCATTGCGCCTGGTCATAAATTCTTGTTTTTTTGTTTGTTTGTTTATTAGAGATGGAATCTCTCTCTCTTGA CCAGGCTAGAGGGCTGTGGTGCGATCTCAGCCCACTGCAACCTCTATCTCCTGAGCTCAAGCGATCCTCCTTAGCTTCCCAAATAGCTGG AACTACAGGCATGTGCCATCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGTTTTACCATGTTGGACAGGGTGGTCTCGAACTCC TGGCCTAAAGTGGTCCACCTAGCTCAGCCTACCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCCTCTAAATTCTGTTTTCT ATTCAAAGTAAAAATGACATGTGTTTGAGTCATCCACTTGCTCATTTGCATATGGAATATTGTATGTGAATATTTTATTACACCCTTAAA >6944_6944_2_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000314146_SF3B3_chr16_70575572_ENST00000302516_length(amino acids)=973AA_BP=110 MKSNPVTYPRDCVHGWHESQASPPAELLASASSQAELCSAHLSPSPVRRKHSRLMNCCIGLGEKARGSHRASYPSLSALFTEASILGFGS FAVKAQWTEDCRKSTYPPSGPTYLYQIAHLGDDDEEPEFSSAMPLEEGDTFFFQPRPLKNLVLVDELDSLSPILFCQIADLANEDTPQLY VACGRGPRSSLRVLRHGLEVSEMAVSELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVLSIGETVEEVTDSGFLGTTPTLSCSLLGDD ALVQVYPDGIRHIRADKRVNEWKTPGKKTIVKCAVNQRQVVIALTGGELVYFEMDPSGQLNEYTERKEMSADVVCMSLANVPPGEQRSRF LAVGLVDNTVRIISLDPSDCLQPLSMQALPAQPESLCIVEMGGTEKQDELGERGSIGFLYLNIGLQNGVLLRTVLDPVTGDLSDTRTRYL GSRPVKLFRVRMQGQEAVLAMSSRSWLSYSYQSRFHLTPLSYETLEFASGFASEQCPEGIVAISTNTLRILALEKLGAVFNQVAFPLQYT PRKFVIHPESNNLIIIETDHNAYTEATKAQRKQQMAEEMVEAAGEDERELAAEMAAAFLNENLPESIFGAPKAGNGQWASVIRVMNPIQG NTLDLVQLEQNEAAFSVAVCRFSNTGEDWYVLVGVAKDLILNPRSVAGGFVYTYKLVNNGEKLEFLHKTPVEEVPAAIAPFQGRVLIGVG KLLRVYDLGKKKLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFADDTYPRWVTTASLLDYDTVAGADKFGNIC VVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQKAEVIMNYHVGETVLSLQKTTLIPGGSESLVYTTLSGGIGILVPFTSHEDHDFFQHV -------------------------------------------------------------- >6944_6944_3_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000381733_SF3B3_chr16_70575572_ENST00000302516_length(transcript)=6031nt_BP=340nt GGACTTTGAAATCCAACCCGGTCACCTACCCGCGCGACTGTGTCCACGGATGGCACGAAAGCCAAGCGAGTCCCCCTGCCGAGCTACTCG CGTCCGCCTCCTCCCAAGCTGAGCTCTGCTCCGCCCACCTGAGTCCTTCGCCAGTTAGGAGGAAACACAGCCGCTTAATGAACTGCTGCA TCGGGCTGGGAGAGAAAGCTCGCGGGTCCCACCGGGCCTCCTACCCAAGTCTCAGCGCGCTTTTCACCGAGGCCTCAATTCTGGGATTTG GCAGCTTTGCTGTGAAAGCCCAATGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACTTACTTATATCAAATTGCAC ATCTTGGAGATGATGATGAAGAACCTGAGTTTTCATCAGCCATGCCTCTGGAAGAAGGAGACACATTCTTTTTTCAGCCAAGACCACTTA AAAACCTTGTGCTGGTTGATGAGTTGGACAGCCTCTCTCCCATTCTGTTTTGCCAGATAGCTGATCTGGCCAATGAAGATACTCCACAGT TGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTGTCAGAAATGGCTGTTTCTGAGCTAC CTGGTAACCCCAACGCTGTCTGGACAGTGCGTCGACACATTGAAGATGAGTTTGATGCCTACATCATTGTGTCTTTCGTGAATGCCACCC TAGTGTTGTCCATTGGAGAAACTGTAGAAGAAGTGACTGACTCTGGGTTCCTGGGGACCACCCCGACCTTGTCCTGCTCCTTATTAGGAG ATGATGCCTTGGTGCAGGTCTATCCAGATGGCATTCGGCACATACGAGCAGACAAGAGAGTCAATGAGTGGAAGACCCCTGGAAAGAAAA CAATTGTGAAGTGTGCAGTGAACCAGCGACAAGTGGTGATTGCCCTGACAGGAGGAGAGCTGGTCTATTTCGAGATGGATCCTTCAGGAC AGCTGAATGAGTACACAGAACGGAAGGAGATGTCAGCAGATGTGGTGTGCATGAGTCTGGCCAATGTACCCCCTGGAGAGCAGCGGTCTC GCTTCCTGGCTGTGGGGCTTGTGGACAACACTGTCAGAATCATCTCCCTGGATCCCTCAGACTGTTTGCAACCTCTAAGCATGCAGGCTC TCCCAGCCCAGCCTGAGTCCTTGTGTATCGTGGAAATGGGTGGGACTGAGAAGCAGGATGAGCTGGGTGAGAGGGGCTCGATTGGCTTCC TATACCTGAATATTGGGCTACAGAACGGTGTGCTGCTGAGGACTGTCTTGGACCCTGTCACTGGGGATTTGTCTGATACTCGCACTCGGT ACCTGGGGTCCCGTCCTGTGAAGCTCTTCCGAGTCCGAATGCAAGGCCAGGAGGCAGTATTGGCCATGTCAAGCCGCTCATGGTTGAGCT ATTCTTACCAATCTCGCTTCCATCTCACCCCACTGTCTTACGAGACACTGGAATTTGCATCGGGTTTTGCCTCGGAACAGTGTCCCGAGG GCATTGTGGCCATCTCCACCAACACCCTACGGATTTTGGCATTAGAGAAGCTCGGTGCTGTCTTCAATCAAGTAGCCTTCCCACTGCAGT ACACACCCAGGAAATTTGTCATCCACCCTGAGAGTAACAACCTTATTATCATTGAAACGGACCACAATGCCTACACTGAGGCCACGAAAG CTCAGAGAAAGCAGCAGATGGCAGAGGAAATGGTGGAAGCAGCAGGGGAGGATGAGCGGGAGCTGGCCGCAGAGATGGCAGCAGCATTCC TCAATGAAAACCTCCCTGAATCCATCTTTGGAGCTCCCAAGGCTGGCAATGGGCAGTGGGCCTCTGTGATCCGAGTGATGAATCCCATTC AAGGGAACACACTGGACCTTGTCCAGCTGGAACAGAATGAGGCAGCTTTTAGTGTGGCTGTGTGCAGGTTTTCCAACACTGGTGAAGACT GGTATGTGCTGGTGGGTGTGGCCAAGGACCTGATACTAAACCCCCGATCTGTGGCAGGGGGCTTCGTCTATACTTACAAGCTTGTGAACA ATGGGGAAAAACTGGAGTTTTTGCACAAGACTCCTGTGGAAGAGGTCCCTGCTGCTATTGCCCCATTCCAGGGGAGGGTGTTGATTGGTG TGGGGAAGCTGTTGCGTGTCTATGACCTGGGAAAGAAGAAGTTACTCCGAAAATGTGAGAATAAGCATATTGCCAATTATATCTCTGGGA TCCAGACTATCGGACATAGGGTAATTGTATCTGATGTCCAAGAAAGTTTCATCTGGGTTCGCTACAAGCGTAATGAAAACCAGCTTATCA TCTTTGCTGATGATACCTACCCCCGATGGGTCACTACAGCCAGCCTCCTGGACTATGACACTGTGGCTGGGGCAGACAAGTTTGGCAACA TATGTGTGGTGAGGCTCCCACCTAACACCAATGATGAAGTAGATGAGGATCCTACAGGAAACAAAGCCCTGTGGGACCGTGGCTTGCTCA ATGGGGCCTCCCAGAAGGCAGAGGTGATCATGAACTACCATGTCGGGGAGACGGTGCTGTCCTTGCAGAAGACCACGCTGATCCCTGGAG GCTCAGAATCACTTGTCTATACCACCTTGTCTGGAGGAATTGGCATCCTTGTGCCATTCACGTCCCATGAGGACCATGACTTCTTCCAGC ATGTGGAAATGCACCTGCGGTCTGAACATCCCCCTCTCTGTGGGCGGGACCACCTCAGCTTTCGCTCCTACTACTTCCCTGTGAAGAATG TGATTGATGGAGACCTCTGTGAGCAGTTCAATTCCATGGAACCCAACAAACAAAAGAACGTCTCTGAAGAACTGGACCGAACCCCACCCG AAGTGTCCAAGAAACTCGAGGATATCCGGACCCGCTACGCCTTCTGAGCCCTCCTTTCCCGGTGGGGCTTGCCAGAGACTGTGTGTTTTG TTTCCCCCACCACCATCACTGCCACCTGGCTTCTGCCATGTGGCAGGAGGGTGACTGGATAATTAAGACTGCATTATGAAAGTCAACAGC TCTTTCCCCTCAGCTCTTCTCCTGGAATGACTGGCTTCCCCTCAAATTGGCACTGAGATTTGCTACACTTCTCCCCACCTGGTACATGAT ACATGACCCCAGGTTCCAGTGTAGAACCTGAGTCCCCCATTCCCCAAAGCCATCCCTGCATTGATATGTCTTGACTCTCCTGTCTACTTT TGCACACACCCTTAATTTTTAATTGGTTTTCTTGTAAATACAGTTTTGTACAATGTTATCTCTGTGGGAGGAAGGAGGCAGGCTGTGGTG GGACTGGGTAGGGTATAGTATCACTCCTGAGTTCCACTGCTCTAGAATCTAACCAGAAATAGAAACCTAGTTTTTAAGGTGACTGGCATC CATGTGTCTTGTTCTGGAGATGAGGATGTAGGTGGGAGGTTTGAACCCAAGTTAGAGCAGGAAGAACTGAGTAGACTCCTTCCTTCCAGA TACCGACTTGGACTTGCGGCACTCTGTGGCTCCCCACCCCCAGGTCTGTGGTGGTTTCTTTGTTTTTTCCTGGTTCTTTTTGCTGTGCTG ATGAAACATGACCTCAATAACCATGTGTATACCCACCCCTCTTCCCACTGGGTATTGAGGAAGGGTGGCTGATTCTTCCTCCTCTTCTAC TCTGAGGATGTTAGTATGGGGATTTTAGCATGAATTCTAGCTGGGGAGTCTTAACAGATGCCCCTTTTACTGATACAGCACCTAAAGCGA TCTTTGGCTCCATAGGACCATAGGAAGGGTCAGTACAGAAGAACCTAGATACTGCCCTGCCCCTGAGAACTGTGTATATGTGGGGCCTGT CTGCAGCACCCATCTCAGGTGGGTTCCAGAGGGCCTTTAGGGTATAATGAGAGCCTGTTAGGTGGAAGAGGCCCAGTTCCAGAAATGTTC CAGCCCACCCCTGAGAATTCCTCCTGTTTAGTTGTGTGGGAAGCCCTCGTCTTCCAGGCTGTCCTTGCGCCTTGAACCTGGAGAAGTGAG CTCACTGTTCTCAATACTTCACAAATGTAAAACTTTCTTTCGTCTGCATGTGCTCAGCCATCTAAATTGAGCAAATGATCTGGTGAGCAC TGGGTTAGAATCAGGAATGGTGGAATACAATCTGAACCTCTCAGAGCCCAGAACAGAGGGTTCCTGACACTGTGACACTGTCTCCTGGAA CTAAGTATCTCTTGAATCATGACTTGGTTTTAGATCAGTCAAGAGAGACCCAGGTTTTGCCAGGAATCGAATCCCTAAATAACATGTTTT TTTCTCACTTAGCTCATGAATTTGCATAGTAGACAGTAGTTCTGAATTAGATTTTGAAAACCTAATTTCAGGGCTCATTTTTTCCTGTGG CCCTAAATCCATTCTATCAAATTGTGTGATACTGACATGCAGTCATCTGAGGAACTCAGCGTAGATACTTGAGCAGCTCCTCGCCTCTTT TCTAACTCAAGTTTGACTAAAATACATACACTCCGTACAGAAGGTAGGGGGTTATGTAAGAAAGGAAAACCTAATCTATGGAATCAGGAG TTGTCACCACCGAGCTTCCTCTGGAAGTCTGCCCATCAGCTTGCTTGTTCTCTGTTAAGAGGAAGGGCTAGGACAAGGATTTGGGCTTGA ATATGTGGAAAGGAATTTTCATAGTTGTTGCTGCAGGACCTACAAAAGTTTAAAATTAGATTGGATGTGACTCAATGACAAGTCCCATCT GTGTAATTGTTAAGGGGACCTGATTGACTCCTGTGGTTTGATTGAGCAACCAGGTAAATAGAGACCTCTCTCCAGCTTTGGCAAAACCCA TCAGAGGCTGCTGCAGAACTCAGACAGAGGGATCTGCCCTTGGGTTTGCTTCCATCCTGTTCCATTGCTAAGCCCTTGTGACTTGGATCC TAGGACTGAAAAGTTTTTAGCTGCCTCAGCTTTCCCCTGACCTTACTGGCAGAGGTTCTGCAGATGTTTCCTTTGGAAGATCTCTTGCCA AGAATAGCATTCCTTTGGAGGAGGGGGGTTCTAGTTGGAATGTTGCTTTTCTTGGTTAGTGTAAATGTATTGCTAGTGAGACAGCTGCCG GCGCTGGAAAAGGCTCGTCTCACAGGGAGAGTGCTGGTCCCCAGAATGTGTGCTGTTCCCACGCTGCTGCCTTTCTTGAGCTTGTTAGAG GAAAGCCAGAAAGGCATTCAGATGGGATCAGTCTGGCTTTCAAATTTTTTTTAATTCCTAAGTTCTGTTTTATTTTTTAATTTTTTAAAA AAAATTTTATTAGAGACAGTCTCTCTCTCTTGCCTAGCTGGGAGTGCAGTGGAGTGATCATAGCTCACTGAGGCTTGAACTCCTGGGCTC GAGCAATCCACCTCAGCCTCCAGAGTAGGGGAGACTACAGATGTGTGCCACCATACTCAGCTAATTTTTAAACTTTTGTAGAGACAGGGT CTCCCTGTGTTGCCCAGGCTGGCCTCGAACTCCTGACCTCAAAAAATCTTCCTGCCTTGGCCTCCCAAAGCACTGGGATTATAGGTGTGA GCCATTGCGCCTGGTCATAAATTCTTGTTTTTTTGTTTGTTTGTTTATTAGAGATGGAATCTCTCTCTCTTGACCAGGCTAGAGGGCTGT GGTGCGATCTCAGCCCACTGCAACCTCTATCTCCTGAGCTCAAGCGATCCTCCTTAGCTTCCCAAATAGCTGGAACTACAGGCATGTGCC ATCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGTTTTACCATGTTGGACAGGGTGGTCTCGAACTCCTGGCCTAAAGTGGTCCA CCTAGCTCAGCCTACCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCCTCTAAATTCTGTTTTCTATTCAAAGTAAAAATGA CATGTGTTTGAGTCATCCACTTGCTCATTTGCATATGGAATATTGTATGTGAATATTTTATTACACCCTTAAAATTAATTTTCAAGGGCT >6944_6944_3_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000381733_SF3B3_chr16_70575572_ENST00000302516_length(amino acids)=973AA_BP=110 MKSNPVTYPRDCVHGWHESQASPPAELLASASSQAELCSAHLSPSPVRRKHSRLMNCCIGLGEKARGSHRASYPSLSALFTEASILGFGS FAVKAQWTEDCRKSTYPPSGPTYLYQIAHLGDDDEEPEFSSAMPLEEGDTFFFQPRPLKNLVLVDELDSLSPILFCQIADLANEDTPQLY VACGRGPRSSLRVLRHGLEVSEMAVSELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVLSIGETVEEVTDSGFLGTTPTLSCSLLGDD ALVQVYPDGIRHIRADKRVNEWKTPGKKTIVKCAVNQRQVVIALTGGELVYFEMDPSGQLNEYTERKEMSADVVCMSLANVPPGEQRSRF LAVGLVDNTVRIISLDPSDCLQPLSMQALPAQPESLCIVEMGGTEKQDELGERGSIGFLYLNIGLQNGVLLRTVLDPVTGDLSDTRTRYL GSRPVKLFRVRMQGQEAVLAMSSRSWLSYSYQSRFHLTPLSYETLEFASGFASEQCPEGIVAISTNTLRILALEKLGAVFNQVAFPLQYT PRKFVIHPESNNLIIIETDHNAYTEATKAQRKQQMAEEMVEAAGEDERELAAEMAAAFLNENLPESIFGAPKAGNGQWASVIRVMNPIQG NTLDLVQLEQNEAAFSVAVCRFSNTGEDWYVLVGVAKDLILNPRSVAGGFVYTYKLVNNGEKLEFLHKTPVEEVPAAIAPFQGRVLIGVG KLLRVYDLGKKKLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFADDTYPRWVTTASLLDYDTVAGADKFGNIC VVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQKAEVIMNYHVGETVLSLQKTTLIPGGSESLVYTTLSGGIGILVPFTSHEDHDFFQHV -------------------------------------------------------------- >6944_6944_4_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000520781_SF3B3_chr16_70575572_ENST00000302516_length(transcript)=6128nt_BP=437nt GGCTCGGTCCGACTATTGCCCGCGGTGGGGGAGGGGGATGGATCACGCCACGCGCCAAAGGCGATCGCGACTCTCCTTCTGCAGGTAGCC TGGAAGGCTCTCTCTCTTTCTCTACGCCACCCTTTTCGTGGCACTGAAAAGCCCCGTCCTCTCCTCCCAGTCCCGCCTCCTCCGAGCGTT CCCCCTACTGCCTGGAATGGTGCGGTCCCAGGTCGCGGGTCACGCGGCGGAGGGGGCGTGGCCTGCCCCCGGCCCAGCCGGCTCTTCTTT GCCTCTGCTGGAGTCCGGGGAGTGGCGTTGGCTGCTAGAGCGATGCCGGGCCGGAGTTGCGTCGCCTTAGTCCTCCTGGCTGCCGCCGTC AGCTGTGCCGTCGCGCAGCACGCGCCGCCGTGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACTTACTTATATCAA ATTGCACATCTTGGAGATGATGATGAAGAACCTGAGTTTTCATCAGCCATGCCTCTGGAAGAAGGAGACACATTCTTTTTTCAGCCAAGA CCACTTAAAAACCTTGTGCTGGTTGATGAGTTGGACAGCCTCTCTCCCATTCTGTTTTGCCAGATAGCTGATCTGGCCAATGAAGATACT CCACAGTTGTATGTGGCCTGTGGTAGGGGACCCCGATCATCTCTGAGAGTCCTAAGACATGGACTTGAGGTGTCAGAAATGGCTGTTTCT GAGCTACCTGGTAACCCCAACGCTGTCTGGACAGTGCGTCGACACATTGAAGATGAGTTTGATGCCTACATCATTGTGTCTTTCGTGAAT GCCACCCTAGTGTTGTCCATTGGAGAAACTGTAGAAGAAGTGACTGACTCTGGGTTCCTGGGGACCACCCCGACCTTGTCCTGCTCCTTA TTAGGAGATGATGCCTTGGTGCAGGTCTATCCAGATGGCATTCGGCACATACGAGCAGACAAGAGAGTCAATGAGTGGAAGACCCCTGGA AAGAAAACAATTGTGAAGTGTGCAGTGAACCAGCGACAAGTGGTGATTGCCCTGACAGGAGGAGAGCTGGTCTATTTCGAGATGGATCCT TCAGGACAGCTGAATGAGTACACAGAACGGAAGGAGATGTCAGCAGATGTGGTGTGCATGAGTCTGGCCAATGTACCCCCTGGAGAGCAG CGGTCTCGCTTCCTGGCTGTGGGGCTTGTGGACAACACTGTCAGAATCATCTCCCTGGATCCCTCAGACTGTTTGCAACCTCTAAGCATG CAGGCTCTCCCAGCCCAGCCTGAGTCCTTGTGTATCGTGGAAATGGGTGGGACTGAGAAGCAGGATGAGCTGGGTGAGAGGGGCTCGATT GGCTTCCTATACCTGAATATTGGGCTACAGAACGGTGTGCTGCTGAGGACTGTCTTGGACCCTGTCACTGGGGATTTGTCTGATACTCGC ACTCGGTACCTGGGGTCCCGTCCTGTGAAGCTCTTCCGAGTCCGAATGCAAGGCCAGGAGGCAGTATTGGCCATGTCAAGCCGCTCATGG TTGAGCTATTCTTACCAATCTCGCTTCCATCTCACCCCACTGTCTTACGAGACACTGGAATTTGCATCGGGTTTTGCCTCGGAACAGTGT CCCGAGGGCATTGTGGCCATCTCCACCAACACCCTACGGATTTTGGCATTAGAGAAGCTCGGTGCTGTCTTCAATCAAGTAGCCTTCCCA CTGCAGTACACACCCAGGAAATTTGTCATCCACCCTGAGAGTAACAACCTTATTATCATTGAAACGGACCACAATGCCTACACTGAGGCC ACGAAAGCTCAGAGAAAGCAGCAGATGGCAGAGGAAATGGTGGAAGCAGCAGGGGAGGATGAGCGGGAGCTGGCCGCAGAGATGGCAGCA GCATTCCTCAATGAAAACCTCCCTGAATCCATCTTTGGAGCTCCCAAGGCTGGCAATGGGCAGTGGGCCTCTGTGATCCGAGTGATGAAT CCCATTCAAGGGAACACACTGGACCTTGTCCAGCTGGAACAGAATGAGGCAGCTTTTAGTGTGGCTGTGTGCAGGTTTTCCAACACTGGT GAAGACTGGTATGTGCTGGTGGGTGTGGCCAAGGACCTGATACTAAACCCCCGATCTGTGGCAGGGGGCTTCGTCTATACTTACAAGCTT GTGAACAATGGGGAAAAACTGGAGTTTTTGCACAAGACTCCTGTGGAAGAGGTCCCTGCTGCTATTGCCCCATTCCAGGGGAGGGTGTTG ATTGGTGTGGGGAAGCTGTTGCGTGTCTATGACCTGGGAAAGAAGAAGTTACTCCGAAAATGTGAGAATAAGCATATTGCCAATTATATC TCTGGGATCCAGACTATCGGACATAGGGTAATTGTATCTGATGTCCAAGAAAGTTTCATCTGGGTTCGCTACAAGCGTAATGAAAACCAG CTTATCATCTTTGCTGATGATACCTACCCCCGATGGGTCACTACAGCCAGCCTCCTGGACTATGACACTGTGGCTGGGGCAGACAAGTTT GGCAACATATGTGTGGTGAGGCTCCCACCTAACACCAATGATGAAGTAGATGAGGATCCTACAGGAAACAAAGCCCTGTGGGACCGTGGC TTGCTCAATGGGGCCTCCCAGAAGGCAGAGGTGATCATGAACTACCATGTCGGGGAGACGGTGCTGTCCTTGCAGAAGACCACGCTGATC CCTGGAGGCTCAGAATCACTTGTCTATACCACCTTGTCTGGAGGAATTGGCATCCTTGTGCCATTCACGTCCCATGAGGACCATGACTTC TTCCAGCATGTGGAAATGCACCTGCGGTCTGAACATCCCCCTCTCTGTGGGCGGGACCACCTCAGCTTTCGCTCCTACTACTTCCCTGTG AAGAATGTGATTGATGGAGACCTCTGTGAGCAGTTCAATTCCATGGAACCCAACAAACAAAAGAACGTCTCTGAAGAACTGGACCGAACC CCACCCGAAGTGTCCAAGAAACTCGAGGATATCCGGACCCGCTACGCCTTCTGAGCCCTCCTTTCCCGGTGGGGCTTGCCAGAGACTGTG TGTTTTGTTTCCCCCACCACCATCACTGCCACCTGGCTTCTGCCATGTGGCAGGAGGGTGACTGGATAATTAAGACTGCATTATGAAAGT CAACAGCTCTTTCCCCTCAGCTCTTCTCCTGGAATGACTGGCTTCCCCTCAAATTGGCACTGAGATTTGCTACACTTCTCCCCACCTGGT ACATGATACATGACCCCAGGTTCCAGTGTAGAACCTGAGTCCCCCATTCCCCAAAGCCATCCCTGCATTGATATGTCTTGACTCTCCTGT CTACTTTTGCACACACCCTTAATTTTTAATTGGTTTTCTTGTAAATACAGTTTTGTACAATGTTATCTCTGTGGGAGGAAGGAGGCAGGC TGTGGTGGGACTGGGTAGGGTATAGTATCACTCCTGAGTTCCACTGCTCTAGAATCTAACCAGAAATAGAAACCTAGTTTTTAAGGTGAC TGGCATCCATGTGTCTTGTTCTGGAGATGAGGATGTAGGTGGGAGGTTTGAACCCAAGTTAGAGCAGGAAGAACTGAGTAGACTCCTTCC TTCCAGATACCGACTTGGACTTGCGGCACTCTGTGGCTCCCCACCCCCAGGTCTGTGGTGGTTTCTTTGTTTTTTCCTGGTTCTTTTTGC TGTGCTGATGAAACATGACCTCAATAACCATGTGTATACCCACCCCTCTTCCCACTGGGTATTGAGGAAGGGTGGCTGATTCTTCCTCCT CTTCTACTCTGAGGATGTTAGTATGGGGATTTTAGCATGAATTCTAGCTGGGGAGTCTTAACAGATGCCCCTTTTACTGATACAGCACCT AAAGCGATCTTTGGCTCCATAGGACCATAGGAAGGGTCAGTACAGAAGAACCTAGATACTGCCCTGCCCCTGAGAACTGTGTATATGTGG GGCCTGTCTGCAGCACCCATCTCAGGTGGGTTCCAGAGGGCCTTTAGGGTATAATGAGAGCCTGTTAGGTGGAAGAGGCCCAGTTCCAGA AATGTTCCAGCCCACCCCTGAGAATTCCTCCTGTTTAGTTGTGTGGGAAGCCCTCGTCTTCCAGGCTGTCCTTGCGCCTTGAACCTGGAG AAGTGAGCTCACTGTTCTCAATACTTCACAAATGTAAAACTTTCTTTCGTCTGCATGTGCTCAGCCATCTAAATTGAGCAAATGATCTGG TGAGCACTGGGTTAGAATCAGGAATGGTGGAATACAATCTGAACCTCTCAGAGCCCAGAACAGAGGGTTCCTGACACTGTGACACTGTCT CCTGGAACTAAGTATCTCTTGAATCATGACTTGGTTTTAGATCAGTCAAGAGAGACCCAGGTTTTGCCAGGAATCGAATCCCTAAATAAC ATGTTTTTTTCTCACTTAGCTCATGAATTTGCATAGTAGACAGTAGTTCTGAATTAGATTTTGAAAACCTAATTTCAGGGCTCATTTTTT CCTGTGGCCCTAAATCCATTCTATCAAATTGTGTGATACTGACATGCAGTCATCTGAGGAACTCAGCGTAGATACTTGAGCAGCTCCTCG CCTCTTTTCTAACTCAAGTTTGACTAAAATACATACACTCCGTACAGAAGGTAGGGGGTTATGTAAGAAAGGAAAACCTAATCTATGGAA TCAGGAGTTGTCACCACCGAGCTTCCTCTGGAAGTCTGCCCATCAGCTTGCTTGTTCTCTGTTAAGAGGAAGGGCTAGGACAAGGATTTG GGCTTGAATATGTGGAAAGGAATTTTCATAGTTGTTGCTGCAGGACCTACAAAAGTTTAAAATTAGATTGGATGTGACTCAATGACAAGT CCCATCTGTGTAATTGTTAAGGGGACCTGATTGACTCCTGTGGTTTGATTGAGCAACCAGGTAAATAGAGACCTCTCTCCAGCTTTGGCA AAACCCATCAGAGGCTGCTGCAGAACTCAGACAGAGGGATCTGCCCTTGGGTTTGCTTCCATCCTGTTCCATTGCTAAGCCCTTGTGACT TGGATCCTAGGACTGAAAAGTTTTTAGCTGCCTCAGCTTTCCCCTGACCTTACTGGCAGAGGTTCTGCAGATGTTTCCTTTGGAAGATCT CTTGCCAAGAATAGCATTCCTTTGGAGGAGGGGGGTTCTAGTTGGAATGTTGCTTTTCTTGGTTAGTGTAAATGTATTGCTAGTGAGACA GCTGCCGGCGCTGGAAAAGGCTCGTCTCACAGGGAGAGTGCTGGTCCCCAGAATGTGTGCTGTTCCCACGCTGCTGCCTTTCTTGAGCTT GTTAGAGGAAAGCCAGAAAGGCATTCAGATGGGATCAGTCTGGCTTTCAAATTTTTTTTAATTCCTAAGTTCTGTTTTATTTTTTAATTT TTTAAAAAAAATTTTATTAGAGACAGTCTCTCTCTCTTGCCTAGCTGGGAGTGCAGTGGAGTGATCATAGCTCACTGAGGCTTGAACTCC TGGGCTCGAGCAATCCACCTCAGCCTCCAGAGTAGGGGAGACTACAGATGTGTGCCACCATACTCAGCTAATTTTTAAACTTTTGTAGAG ACAGGGTCTCCCTGTGTTGCCCAGGCTGGCCTCGAACTCCTGACCTCAAAAAATCTTCCTGCCTTGGCCTCCCAAAGCACTGGGATTATA GGTGTGAGCCATTGCGCCTGGTCATAAATTCTTGTTTTTTTGTTTGTTTGTTTATTAGAGATGGAATCTCTCTCTCTTGACCAGGCTAGA GGGCTGTGGTGCGATCTCAGCCCACTGCAACCTCTATCTCCTGAGCTCAAGCGATCCTCCTTAGCTTCCCAAATAGCTGGAACTACAGGC ATGTGCCATCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGTTTTACCATGTTGGACAGGGTGGTCTCGAACTCCTGGCCTAAAG TGGTCCACCTAGCTCAGCCTACCAAAGTGCTGTGATTACAGGCGTGAGCCACCATGCCCAGCCTCTAAATTCTGTTTTCTATTCAAAGTA AAAATGACATGTGTTTGAGTCATCCACTTGCTCATTTGCATATGGAATATTGTATGTGAATATTTTATTACACCCTTAAAATTAATTTTC >6944_6944_4_ASAH1-SF3B3_ASAH1_chr8_17933050_ENST00000520781_SF3B3_chr16_70575572_ENST00000302516_length(amino acids)=1002AA_BP=139 MPAVGEGDGSRHAPKAIATLLLQVAWKALSLSLRHPFRGTEKPRPLLPVPPPPSVPPTAWNGAVPGRGSRGGGGVACPRPSRLFFASAGV RGVALAARAMPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYLYQIAHLGDDDEEPEFSSAMPLEEGDTFFFQPRPLKNL VLVDELDSLSPILFCQIADLANEDTPQLYVACGRGPRSSLRVLRHGLEVSEMAVSELPGNPNAVWTVRRHIEDEFDAYIIVSFVNATLVL SIGETVEEVTDSGFLGTTPTLSCSLLGDDALVQVYPDGIRHIRADKRVNEWKTPGKKTIVKCAVNQRQVVIALTGGELVYFEMDPSGQLN EYTERKEMSADVVCMSLANVPPGEQRSRFLAVGLVDNTVRIISLDPSDCLQPLSMQALPAQPESLCIVEMGGTEKQDELGERGSIGFLYL NIGLQNGVLLRTVLDPVTGDLSDTRTRYLGSRPVKLFRVRMQGQEAVLAMSSRSWLSYSYQSRFHLTPLSYETLEFASGFASEQCPEGIV AISTNTLRILALEKLGAVFNQVAFPLQYTPRKFVIHPESNNLIIIETDHNAYTEATKAQRKQQMAEEMVEAAGEDERELAAEMAAAFLNE NLPESIFGAPKAGNGQWASVIRVMNPIQGNTLDLVQLEQNEAAFSVAVCRFSNTGEDWYVLVGVAKDLILNPRSVAGGFVYTYKLVNNGE KLEFLHKTPVEEVPAAIAPFQGRVLIGVGKLLRVYDLGKKKLLRKCENKHIANYISGIQTIGHRVIVSDVQESFIWVRYKRNENQLIIFA DDTYPRWVTTASLLDYDTVAGADKFGNICVVRLPPNTNDEVDEDPTGNKALWDRGLLNGASQKAEVIMNYHVGETVLSLQKTTLIPGGSE SLVYTTLSGGIGILVPFTSHEDHDFFQHVEMHLRSEHPPLCGRDHLSFRSYYFPVKNVIDGDLCEQFNSMEPNKQKNVSEELDRTPPEVS -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ASAH1-SF3B3 |
| 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 |
| Tgene | SF3B3 | chr8:17933050 | chr16:70575572 | ENST00000302516 | 7 | 26 | 786_804 | 355.6666666666667 | 1218.0 | SF3B1 and SF3B5 | |
| Tgene | SF3B3 | chr8:17933050 | chr16:70575572 | ENST00000302516 | 7 | 26 | 1028_1049 | 355.6666666666667 | 1218.0 | SF3B1 | |
| Tgene | SF3B3 | chr8:17933050 | chr16:70575572 | ENST00000302516 | 7 | 26 | 1100_1123 | 355.6666666666667 | 1218.0 | SF3B5 |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Tgene | SF3B3 | chr8:17933050 | chr16:70575572 | ENST00000302516 | 7 | 26 | 105_119 | 355.6666666666667 | 1218.0 | PHF5A%2C SF3B1 and SF3B5 | |
| Tgene | SF3B3 | chr8:17933050 | chr16:70575572 | ENST00000302516 | 7 | 26 | 145_168 | 355.6666666666667 | 1218.0 | PHF5A%2C SF3B1 and SF3B5 | |
| Tgene | SF3B3 | chr8:17933050 | chr16:70575572 | ENST00000302516 | 7 | 26 | 193_231 | 355.6666666666667 | 1218.0 | SF3B1 and SF3B5 |
| - 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 ASAH1-SF3B3 |
| 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 ASAH1-SF3B3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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