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Fusion gene ID: 33478 |
FusionGeneSummary for SFMBT1_HPS3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SFMBT1_HPS3 | Fusion gene ID: 33478 | Hgene | Tgene | Gene symbol | SFMBT1 | HPS3 | Gene ID | 51460 | 84343 |
| Gene name | Scm like with four mbt domains 1 | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 | |
| Synonyms | RU1|SFMBT|hSFMBT | BLOC2S1|SUTAL | |
| Cytomap | 3p21.1 | 3q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | scm-like with four MBT domains protein 1Scm-related gene containing four mbt domainsScm-related gene product containing four mbt domainsrenal ubiquitous protein 1 | Hermansky-Pudlak syndrome 3 protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9UHJ3 | Q969F9 | |
| Ensembl transtripts involved in fusion gene | ENST00000394752, ENST00000394750, ENST00000358080, ENST00000296295, ENST00000470575, | ENST00000296051, ENST00000460120, ENST00000494327, | |
| Fusion gene scores | * DoF score | 11 X 8 X 8=704 | 3 X 3 X 2=18 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/704*10)=-2.55254102302878 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SFMBT1 [Title/Abstract] AND HPS3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | SFMBT1 | GO:0045892 | negative regulation of transcription, DNA-templated | 23592795 |
| 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 | LIHC | TCGA-BC-A10T-01A | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000394752 | ENST00000296051 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| Frame-shift | ENST00000394752 | ENST00000460120 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| 5CDS-intron | ENST00000394752 | ENST00000494327 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| In-frame | ENST00000394750 | ENST00000296051 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| In-frame | ENST00000394750 | ENST00000460120 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| 5CDS-intron | ENST00000394750 | ENST00000494327 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| In-frame | ENST00000358080 | ENST00000296051 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| In-frame | ENST00000358080 | ENST00000460120 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| 5CDS-intron | ENST00000358080 | ENST00000494327 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| Frame-shift | ENST00000296295 | ENST00000296051 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| Frame-shift | ENST00000296295 | ENST00000460120 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| 5CDS-intron | ENST00000296295 | ENST00000494327 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| intron-3CDS | ENST00000470575 | ENST00000296051 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| intron-3CDS | ENST00000470575 | ENST00000460120 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
| intron-intron | ENST00000470575 | ENST00000494327 | SFMBT1 | chr3 | 52966078 | - | HPS3 | chr3 | 148877833 | + |
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FusionProtFeatures for SFMBT1_HPS3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SFMBT1 | HPS3 |
| Histone-binding protein, which is part of variouscorepressor complexes. Mediates the recruitment of corepressorcomplexes to target genes, followed by chromatin compaction andrepression of transcription. Plays a role during myogenesis:required for the maintenance of undifferentiated states ofmyogenic progenitor cells via interaction with MYOD1. Interactionwith MYOD1 leads to the recruitment of associated corepressors andsilencing of MYOD1 target genes. Part of the SLC complex in germcells, where it may play a role during spermatogenesis.{ECO:0000269|PubMed:17599839, ECO:0000269|PubMed:23349461,ECO:0000269|PubMed:23592795}. | Involved in early stages of melanosome biogenesis andmaturation. {ECO:0000250|UniProtKB:Q91VB4}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SFMBT1_HPS3 |
| 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_SFMBT1_ENST00000394750_chr3_52966078_-_HPS3_ENST00000296051_chr3_148877833_+_614aa MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAVRTDPETYWVATVITTCEQLLLLRYDGYGED RRADFWCDIRKADLYPIGWCEQNKKTLEAPEGIRDKVSDWDEFLRQTLIGACSPPVPLLEGLRNGRNPLDLIAPGSRLECQAFQDSLSTW IVTVVENIGGRLKLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQGYELQPPSGISSKSGSDVLCGXAKASAPYSLXSFYEEYXSFNCHE LSKEAGYFWVFIDLSDIDQGSSGSENGRSXHAQKXNEKPFRDEVGMWLHSGTSAVDSTEKGTDCSNRACTSLEGNSAWIACGFSSGLAEE QQNWNXRSRFLFXGALCXGXRYNSSALGRLLGSSASGMSPRCGTSGTLFQTHITVHLEIVXEAASXHHTIANIGGSDKCLXSLWLNLSMG SRRNIIXFFSXXKLYRRSFKITVSYMWSFIXHSFHYSVLGATFRRHYCRPQCPCSVSYTLERVXTVHRHTVREMPGGSHSICXSXTERRE >In-frame_SFMBT1_ENST00000394750_chr3_52966078_-_HPS3_ENST00000460120_chr3_148877833_+_614aa MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAVRTDPETYWVATVITTCEQLLLLRYDGYGED RRADFWCDIRKADLYPIGWCEQNKKTLEAPEGIRDKVSDWDEFLRQTLIGACSPPVPLLEGLRNGRNPLDLIAPGSRLECQAFQDSLSTW IVTVVENIGGRLKLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQGYELQPPSGISSKSGSDVLCGXAKASAPYSLXSFYEEYXSFNCHE LSKEAGYFWVFIDLSDIDQGSSGSENGRSXHAQKXNEKPFRDEVGMWLHSGTSAVDSTEKGTDCSNRACTSLEGNSAWIACGFSSGLAEE QQNWNXRSRFLFXGALCXGXRYNSSALGRLLGSSASGMSPRCGTSGTLFQTHITVHLEIVXEAASXHHTIANIGGSDKCLXSLWLNLSMG SRRNIIXFFSXXKLYRRSFKITVSYMWSFIXHSFHYSVLGATFRRHYCRPQCPCSVSYTLERVXTVHRHTVREMPGGSHSICXSXTERRE >In-frame_SFMBT1_ENST00000358080_chr3_52966078_-_HPS3_ENST00000296051_chr3_148877833_+_614aa MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAVRTDPETYWVATVITTCEQLLLLRYDGYGED RRADFWCDIRKADLYPIGWCEQNKKTLEAPEGIRDKVSDWDEFLRQTLIGACSPPVPLLEGLRNGRNPLDLIAPGSRLECQAFQDSLSTW IVTVVENIGGRLKLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQGYELQPPSGISSKSGSDVLCGXAKASAPYSLXSFYEEYXSFNCHE LSKEAGYFWVFIDLSDIDQGSSGSENGRSXHAQKXNEKPFRDEVGMWLHSGTSAVDSTEKGTDCSNRACTSLEGNSAWIACGFSSGLAEE QQNWNXRSRFLFXGALCXGXRYNSSALGRLLGSSASGMSPRCGTSGTLFQTHITVHLEIVXEAASXHHTIANIGGSDKCLXSLWLNLSMG SRRNIIXFFSXXKLYRRSFKITVSYMWSFIXHSFHYSVLGATFRRHYCRPQCPCSVSYTLERVXTVHRHTVREMPGGSHSICXSXTERRE >In-frame_SFMBT1_ENST00000358080_chr3_52966078_-_HPS3_ENST00000460120_chr3_148877833_+_614aa MNGEQQLDADAGSGMEEVELSWEDYLEETGSTAVPYGSFKHVDTRLQNGFAPGMKLEVAVRTDPETYWVATVITTCEQLLLLRYDGYGED RRADFWCDIRKADLYPIGWCEQNKKTLEAPEGIRDKVSDWDEFLRQTLIGACSPPVPLLEGLRNGRNPLDLIAPGSRLECQAFQDSLSTW IVTVVENIGGRLKLRYEGLESSDNYEHWLYYLDPFLHHVGWAAQQGYELQPPSGISSKSGSDVLCGXAKASAPYSLXSFYEEYXSFNCHE LSKEAGYFWVFIDLSDIDQGSSGSENGRSXHAQKXNEKPFRDEVGMWLHSGTSAVDSTEKGTDCSNRACTSLEGNSAWIACGFSSGLAEE QQNWNXRSRFLFXGALCXGXRYNSSALGRLLGSSASGMSPRCGTSGTLFQTHITVHLEIVXEAASXHHTIANIGGSDKCLXSLWLNLSMG SRRNIIXFFSXXKLYRRSFKITVSYMWSFIXHSFHYSVLGATFRRHYCRPQCPCSVSYTLERVXTVHRHTVREMPGGSHSICXSXTERRE |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SFMBT1_ENST00000394750_chr3_52966078_-_HPS3_ENST00000296051_chr3_148877833_+_1843nt ATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGG TCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTG AGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGAT CGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCA GAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAG GGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGG ATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAAGTTCTGACAATTATGAACATTGGTTGTAT TACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGT TCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAG CTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGA CATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAA GGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAA CAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTT TTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAACTCACATCACAGTACATCTGGAGATTGTC TAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGT TCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATT TGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTT GAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAA CCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATT AAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTT >In-frame_SFMBT1_ENST00000394750_chr3_52966078_-_HPS3_ENST00000460120_chr3_148877833_+_1843nt ATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGG TCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTG AGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGAT CGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCA GAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAG GGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGG ATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAAGTTCTGACAATTATGAACATTGGTTGTAT TACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGT TCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAG CTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGA CATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAA GGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAA CAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTT TTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAACTCACATCACAGTACATCTGGAGATTGTC TAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGT TCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATT TGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTT GAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAA CCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATT AAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTT >In-frame_SFMBT1_ENST00000358080_chr3_52966078_-_HPS3_ENST00000296051_chr3_148877833_+_1843nt ATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGG TCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTG AGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGAT CGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCA GAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAG GGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGG ATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAAGTTCTGACAATTATGAACATTGGTTGTAT TACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGT TCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAG CTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGA CATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAA GGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAA CAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTT TTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAACTCACATCACAGTACATCTGGAGATTGTC TAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGT TCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATT TGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTT GAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAA CCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATT AAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTT >In-frame_SFMBT1_ENST00000358080_chr3_52966078_-_HPS3_ENST00000460120_chr3_148877833_+_1843nt ATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGG TCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTG AGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGAT CGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCA GAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAG GGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGG ATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAAGTTCTGACAATTATGAACATTGGTTGTAT TACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGT TCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAG CTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGA CATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAA GGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAA CAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTT TTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAACTCACATCACAGTACATCTGGAGATTGTC TAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGT TCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATT TGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTT GAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAA CCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATT AAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SFMBT1_ENST00000394750_chr3_52966078_-_HPS3_ENST00000296051_chr3_148877833_+_3922nt GGCCCGGGCGGTCGCTGCGCGGTGGCGGAGCGTCTAGTGGCCGCCGCAACCGGTGGCTCCGGGCCGCCGTTGTGAAGTGAGCGGGCCTCT CCCGCGCCGCGGCCCGCCGGGCACCGCCGCTGGACCCCGCGCCGACCCGGCAGCGCCCCGACCTGCCGCTCGGGAGGTCCGCGACCGTTT CGATTTCTGTTCCTAAAGTCCGATTTTGGACGCTGAAAAGGAGGCTGTGGAGGGGCGAGCGGCGTCCTGGGAAGCAAGGCCTGCTCTGTG CGGAGCAGAAACGCCTTGTGCGAACAGAAATAAATTCCCGCGGAAAGGATGAAGGTGGACTTTTAAATATTCTCCACTGAAGCAAATGCT GCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCACTTTCATTT GGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTTTGTTTTGGG AGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAA GCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTG CTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCC TTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTG AGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAG CATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTC AAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAA GTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGC CCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATG AAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCA GCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTG GAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTT GTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAA GATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAA CTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGT AGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAA TTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTC AGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCA TATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGA GAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTC CCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCATTTGAAAAAT ACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCACACACACACA CACACACACACACACACACACACACATATATGATACAAATGCTTTCAGGCTGCTTACCTTACCGTGTAGTGGTAACTATTCACTTCTTAA TTTATGACCTCAATCAATTTAATTGTCTAGAATGTAAAAAGTCTTTAAGACATAAGAATTCCTCAAAGAAGCCATACATTTTTTAAGGTG GGGATTGACTTTTATTCCAAGGAACAACATCAGTTCACTGTTGTTGGAGACATGACAATCATTTTCATCCCAAGAACACTTTAAGGAAAC ATTTTACAAGTATGCTTGAAAGAATGTCACTAACTGGTCCAGAATTTTATCTTCTTGATTTTTCCAGATTTCTCTATGTTTTTGAGAAAG ATGTTAATGTTTTGCCATGGTAAAAGATTTCAAACCTCATTTTTTTTGTTCCTTTTCTTGTTACTTTTAAGAAAACTCATGCTCTGTTTC TCTGAATCAAATGAAGTAGAAGTTTACAAAGCTAACTTTCTTCTTGTCTAGCTATTAACATGATTTGTCAAATGCATGTTTTTTTCAGCC AAAGCCTTGTTTCCATTTTTGTTGATGTGTACTCTTGCTCTTTTAGCTAGAGTGTATGTGAAAATAAAGAAATACATCATTGTATTCACA ACCATGTGTCTTCATTTATAACTTTTTGTTTAAAAAATTTTTAGTTCAAGTTTAGTTCATTGATATTATCCTCTGAATGCAGTTAAGGCT GGGCAGAAATTCTACTCATGTGACATCTGCCACAGGTCTATTTTGAAGCTTTTCTTCTAATGGCAATGTTTGTCCTTACCAGGATTTAAT CTATAGAATTGTCTCTCAACTCTGCTTTTCTCCAGTTCCAGATAACGTCCTTAAGACCATCTGTTCAGGGGTTCACAAAACTCAAATTTG TGTCATTCTATTTTATTTATTTTATTTTTTATTTCCTTCCCTCATACCTTGCCCATTCCCTCTGAATATTAGGTGTGATGTCAACAGCAT GTTAGAAGGATCAATGGGAAGGCAATGATTGAAAACATTTCAATGAACCTTAATAGTGTTCCTTTGAGGAGCACCCAGGAGAATATCTGG TCATAGATCTTTTTTTAAATGCAGTTTTATAAAACCCTAACAGCGGTGATATCATTAGACTGTATGAATCAGTTTTATTACCTAGTGTAC AAGTGTCAGTCATGTATCATTATATAGTCTGTTGATCTTTCCATTTGCAAAAAATTAATAGTTTTCCCCCACAAATGTACAAAGTTGTAT GCTTCCAGTCTTCTTTTAATGTTTATAGTCATTCCAAAGTAACATTCTATTTTACACTTTCACATACATTGTTATGAATCATTGGTTTTT >In-frame_SFMBT1_ENST00000394750_chr3_52966078_-_HPS3_ENST00000460120_chr3_148877833_+_2551nt GGCCCGGGCGGTCGCTGCGCGGTGGCGGAGCGTCTAGTGGCCGCCGCAACCGGTGGCTCCGGGCCGCCGTTGTGAAGTGAGCGGGCCTCT CCCGCGCCGCGGCCCGCCGGGCACCGCCGCTGGACCCCGCGCCGACCCGGCAGCGCCCCGACCTGCCGCTCGGGAGGTCCGCGACCGTTT CGATTTCTGTTCCTAAAGTCCGATTTTGGACGCTGAAAAGGAGGCTGTGGAGGGGCGAGCGGCGTCCTGGGAAGCAAGGCCTGCTCTGTG CGGAGCAGAAACGCCTTGTGCGAACAGAAATAAATTCCCGCGGAAAGGATGAAGGTGGACTTTTAAATATTCTCCACTGAAGCAAATGCT GCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCACTTTCATTT GGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTTTGTTTTGGG AGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGGTAGAATTAA GCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAAATGGATTTG CTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGCAGTTGCTCC TTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTGGGTGGTGTG AGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCCTGATAGGAG CATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGACTAGAATGTC AAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAGGACTTGAAA GTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATGAGCTTCAGC CCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGTCCTTCTATG AAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAGGCA GCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGCTTCATTCTG GAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTGCTT GTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCTAAGGATGAA GATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTCAAA CTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATAAATGCCTGT AGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCAAAA TTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATTGCCGGCCTC AGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATTCCA TATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAATGTGGTGGA GAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTTCTC CCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCATTTGAAAAAT ACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCACACACACACA >In-frame_SFMBT1_ENST00000358080_chr3_52966078_-_HPS3_ENST00000296051_chr3_148877833_+_3841nt CGCGGAGCGCCGCCGCCGCCTCCGCCGGAGCGCGGGTGGAGGGGGGCGGGGAGAGCTGCCGGCCGCCCCGCTCCGCCGAACCCAGCAGGA AGGAGGGCGCGAGCGGGCGAGCGCGGGCAGCACGGGAGGAAAAAGCTTCCGCGCGGGGGAGCGAAAAGACGGAAAGAAAGAAAGAAAACG AGCGCGAGAGGGGGAAAAGCGAGCGATCGAGCGAGCGCGCGCGCGAAAACTCCGGGCAGGAAGGTGGACTTTTAAATATTCTCCACTGAA GCAAATGCTGCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCA CTTTCATTTGGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTT TGTTTTGGGAGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGG TAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAA ATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGC AGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTG GGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCC TGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGAC TAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAG GACTTGAAAGTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATG AGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGT CCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTG ACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGC TTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCT GGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCT AAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTC TTTTTCAAACTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATA AATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGAT CTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATT GCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCA GTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAA TGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATG AATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCAT TTGAAAAATACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCAC ACACACACACACACACACACACACACACACACACATATATGATACAAATGCTTTCAGGCTGCTTACCTTACCGTGTAGTGGTAACTATTC ACTTCTTAATTTATGACCTCAATCAATTTAATTGTCTAGAATGTAAAAAGTCTTTAAGACATAAGAATTCCTCAAAGAAGCCATACATTT TTTAAGGTGGGGATTGACTTTTATTCCAAGGAACAACATCAGTTCACTGTTGTTGGAGACATGACAATCATTTTCATCCCAAGAACACTT TAAGGAAACATTTTACAAGTATGCTTGAAAGAATGTCACTAACTGGTCCAGAATTTTATCTTCTTGATTTTTCCAGATTTCTCTATGTTT TTGAGAAAGATGTTAATGTTTTGCCATGGTAAAAGATTTCAAACCTCATTTTTTTTGTTCCTTTTCTTGTTACTTTTAAGAAAACTCATG CTCTGTTTCTCTGAATCAAATGAAGTAGAAGTTTACAAAGCTAACTTTCTTCTTGTCTAGCTATTAACATGATTTGTCAAATGCATGTTT TTTTCAGCCAAAGCCTTGTTTCCATTTTTGTTGATGTGTACTCTTGCTCTTTTAGCTAGAGTGTATGTGAAAATAAAGAAATACATCATT GTATTCACAACCATGTGTCTTCATTTATAACTTTTTGTTTAAAAAATTTTTAGTTCAAGTTTAGTTCATTGATATTATCCTCTGAATGCA GTTAAGGCTGGGCAGAAATTCTACTCATGTGACATCTGCCACAGGTCTATTTTGAAGCTTTTCTTCTAATGGCAATGTTTGTCCTTACCA GGATTTAATCTATAGAATTGTCTCTCAACTCTGCTTTTCTCCAGTTCCAGATAACGTCCTTAAGACCATCTGTTCAGGGGTTCACAAAAC TCAAATTTGTGTCATTCTATTTTATTTATTTTATTTTTTATTTCCTTCCCTCATACCTTGCCCATTCCCTCTGAATATTAGGTGTGATGT CAACAGCATGTTAGAAGGATCAATGGGAAGGCAATGATTGAAAACATTTCAATGAACCTTAATAGTGTTCCTTTGAGGAGCACCCAGGAG AATATCTGGTCATAGATCTTTTTTTAAATGCAGTTTTATAAAACCCTAACAGCGGTGATATCATTAGACTGTATGAATCAGTTTTATTAC CTAGTGTACAAGTGTCAGTCATGTATCATTATATAGTCTGTTGATCTTTCCATTTGCAAAAAATTAATAGTTTTCCCCCACAAATGTACA AAGTTGTATGCTTCCAGTCTTCTTTTAATGTTTATAGTCATTCCAAAGTAACATTCTATTTTACACTTTCACATACATTGTTATGAATCA >In-frame_SFMBT1_ENST00000358080_chr3_52966078_-_HPS3_ENST00000460120_chr3_148877833_+_2470nt CGCGGAGCGCCGCCGCCGCCTCCGCCGGAGCGCGGGTGGAGGGGGGCGGGGAGAGCTGCCGGCCGCCCCGCTCCGCCGAACCCAGCAGGA AGGAGGGCGCGAGCGGGCGAGCGCGGGCAGCACGGGAGGAAAAAGCTTCCGCGCGGGGGAGCGAAAAGACGGAAAGAAAGAAAGAAAACG AGCGCGAGAGGGGGAAAAGCGAGCGATCGAGCGAGCGCGCGCGCGAAAACTCCGGGCAGGAAGGTGGACTTTTAAATATTCTCCACTGAA GCAAATGCTGCAACAATTTGCATTTCCTTCACCAATGTCGTCTTGTGCCTTTTCTTGTTCCTACTGTAAAGGAGATGGGTTAGATGTTCA CTTTCATTTGGACCCGTGGATACCCATTGAACAGATGCTTGAAACCTGCAAGTAATCTTCAGATCCTAGCAGAACCATAGGCCTTTCCTT TGTTTTGGGAGGATATAGCCTGCCTATATGCTGTGGAAATGAACGGGGAGCAGCAGCTTGATGCAGATGCCGGCTCTGGTATGGAAGAGG TAGAATTAAGCTGGGAAGATTATCTAGAAGAAACAGGGTCCACAGCAGTTCCCTATGGGTCTTTTAAACATGTGGACACACGTTTGCAAA ATGGATTTGCTCCTGGGATGAAGCTGGAGGTGGCTGTGAGAACAGATCCTGAGACCTACTGGGTTGCCACCGTTATCACTACCTGTGAGC AGTTGCTCCTTCTCCGCTATGATGGCTATGGGGAGGATCGGAGAGCAGATTTCTGGTGTGACATCAGGAAGGCTGATCTCTACCCCATTG GGTGGTGTGAGCAGAATAAGAAGACCCTTGAAGCCCCAGAAGGCATCAGAGATAAAGTATCTGACTGGGATGAGTTTCTGCGGCAGACCC TGATAGGAGCATGTAGTCCTCCTGTTCCGCTGCTAGAGGGCCTCCGTAATGGGAGGAATCCTTTAGATCTCATTGCTCCAGGATCCAGAC TAGAATGTCAAGCTTTCCAGGACTCTTTAAGCACTTGGATTGTTACTGTAGTAGAAAACATTGGAGGAAGGCTGAAGCTACGTTATGAAG GACTTGAAAGTTCTGACAATTATGAACATTGGTTGTATTACTTGGATCCATTTCTTCATCACGTTGGTTGGGCTGCTCAACAGGGATATG AGCTTCAGCCCCCTTCAGGAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAGCAAGTGCCCCATATTCTCTGTAGT CCTTCTATGAAGAATATTAATCCTTTAACTGCCATGAGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTG ACCAAGGCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCATTCAGAGATGAAGTTGGTATGTGGC TTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGAAAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCT GGATTGCTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGATTCCTTTTTTAAGGTGCTTTGTGCT AAGGATGAAGATACAATTCCTCAGCTCTTGGTAGACTTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTC TTTTTCAAACTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCATTGCGAACATCGGAGGATCTGATA AATGCCTGTAGTCATTATGGCTTAATTTATCCATGGGTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGAT CTTTCAAAATTACAGTCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTGGAGCCACTTTCAGAAGACACTATT GCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGCTTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCA GTCATTCCATATGCTAATCATGAACTGAAAGAAGAGAACCGGACTCTGTGGTGGAAAAAACTGTTGCCTGAACTTTGTCAGAGAATAAAA TGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCATTAAAAGAAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATG AATGTTCTCCCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAGAAACCATTGACTTAAAGGTATCAT TTGAAAAATACCATAATGGCATTTGAGACTGAATTTCTAAAAATTGAATGCCAAAGTACAAGTAGAGGAGTTTTTTATTTTATATATCAC |
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FusionGenePPI for SFMBT1_HPS3 |
| 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 |
| SFMBT1 | PHC1, ACP1, PHC2, HIST1H3A, HIST1H4A, PSMA1, SRPK1, ZCCHC10, CLNK, KIF22, RBPJ, HDAC1, HMG20A | HPS3 | NXF1, EFNB2, SKAP1, CHIA, THBS3, TCL1B, HERC2, HPS6, SIRT6 |
| - 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 SFMBT1_HPS3 |
| 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 SFMBT1_HPS3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HPS3 | C3888001 | HERMANSKY-PUDLAK SYNDROME 3 | 1 | UNIPROT |
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