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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:HPS4-UBE2L3 (FusionGDB2 ID:37540) |
Fusion Gene Summary for HPS4-UBE2L3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HPS4-UBE2L3 | Fusion gene ID: 37540 | Hgene | Tgene | Gene symbol | HPS4 | UBE2L3 | Gene ID | 89781 | 7332 |
| Gene name | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | ubiquitin conjugating enzyme E2 L3 | |
| Synonyms | BLOC3S2|LE | E2-F1|L-UBC|UBCH7|UbcM4 | |
| Cytomap | 22q12.1 | 22q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Hermansky-Pudlak syndrome 4 proteinlight-ear protein homolog | ubiquitin-conjugating enzyme E2 L3E2 ubiquitin-conjugating enzyme L3ubiquitin carrier protein L3ubiquitin conjugating enzyme E2L 3ubiquitin-conjugating enzyme E2-F1ubiquitin-conjugating enzyme UBCH7ubiquitin-protein ligase L3 | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | Q9NQG7 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000336873, ENST00000398141, ENST00000398145, ENST00000402105, ENST00000493455, | ENST00000545681, ENST00000342192, ENST00000458578, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 20 X 14 X 7=1960 |
| # samples | 3 | 22 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(22/1960*10)=-3.15527822547791 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HPS4 [Title/Abstract] AND UBE2L3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HPS4(26859883)-UBE2L3(21947150), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | HPS4-UBE2L3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | HPS4 | GO:0006605 | protein targeting | 12663659 |
| Hgene | HPS4 | GO:0007040 | lysosome organization | 12663659 |
| Hgene | HPS4 | GO:1903232 | melanosome assembly | 23084991 |
| Tgene | UBE2L3 | GO:0000209 | protein polyubiquitination | 10888878|14765125 |
| Tgene | UBE2L3 | GO:0006355 | regulation of transcription, DNA-templated | 17003263 |
| Tgene | UBE2L3 | GO:0016567 | protein ubiquitination | 9990509|21532592 |
| Tgene | UBE2L3 | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
| Tgene | UBE2L3 | GO:0071385 | cellular response to glucocorticoid stimulus | 17003263 |
| Fusion gene breakpoints across HPS4 (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 UBE2L3 (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 |
| ChimerDB4 | SKCM | TCGA-XV-A9W2-01A | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
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Fusion Gene ORF analysis for HPS4-UBE2L3 |
| 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 |
| 5CDS-intron | ENST00000336873 | ENST00000545681 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 5CDS-intron | ENST00000398141 | ENST00000545681 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 5CDS-intron | ENST00000398145 | ENST00000545681 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 5CDS-intron | ENST00000402105 | ENST00000545681 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 5UTR-3CDS | ENST00000493455 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 5UTR-3CDS | ENST00000493455 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 5UTR-intron | ENST00000493455 | ENST00000545681 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| Frame-shift | ENST00000398145 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| Frame-shift | ENST00000398145 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| In-frame | ENST00000336873 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| In-frame | ENST00000336873 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| In-frame | ENST00000398141 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| In-frame | ENST00000398141 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| In-frame | ENST00000402105 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| In-frame | ENST00000402105 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + |
| 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) |
| ENST00000398141 | HPS4 | chr22 | 26859883 | - | ENST00000458578 | UBE2L3 | chr22 | 21947150 | + | 2773 | 1752 | 0 | 2189 | 729 |
| ENST00000398141 | HPS4 | chr22 | 26859883 | - | ENST00000342192 | UBE2L3 | chr22 | 21947150 | + | 4555 | 1752 | 0 | 2189 | 729 |
| ENST00000402105 | HPS4 | chr22 | 26859883 | - | ENST00000458578 | UBE2L3 | chr22 | 21947150 | + | 3019 | 1998 | 246 | 2435 | 729 |
| ENST00000402105 | HPS4 | chr22 | 26859883 | - | ENST00000342192 | UBE2L3 | chr22 | 21947150 | + | 4801 | 1998 | 246 | 2435 | 729 |
| ENST00000336873 | HPS4 | chr22 | 26859883 | - | ENST00000458578 | UBE2L3 | chr22 | 21947150 | + | 3243 | 2222 | 509 | 2659 | 716 |
| ENST00000336873 | HPS4 | chr22 | 26859883 | - | ENST00000342192 | UBE2L3 | chr22 | 21947150 | + | 5025 | 2222 | 509 | 2659 | 716 |
| 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 |
| ENST00000398141 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + | 0.002915076 | 0.9970849 |
| ENST00000398141 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + | 0.002364864 | 0.9976351 |
| ENST00000402105 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + | 0.00244612 | 0.9975539 |
| ENST00000402105 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + | 0.002227766 | 0.99777216 |
| ENST00000336873 | ENST00000458578 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + | 0.002978964 | 0.997021 |
| ENST00000336873 | ENST00000342192 | HPS4 | chr22 | 26859883 | - | UBE2L3 | chr22 | 21947150 | + | 0.002563818 | 0.9974362 |
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Fusion Genomic Features for HPS4-UBE2L3 |
| 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) |
| HPS4 | chr22 | 26859882 | - | UBE2L3 | chr22 | 21947149 | + | 4.09E-06 | 0.99999595 |
| HPS4 | chr22 | 26859882 | - | UBE2L3 | chr22 | 21947149 | + | 4.09E-06 | 0.99999595 |
| 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 HPS4-UBE2L3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:26859883/chr22:21947150) - 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 |
| HPS4 | . |
| FUNCTION: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}. | 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 |
| Tgene | UBE2L3 | chr22:26859883 | chr22:21947150 | ENST00000545681 | 0 | 3 | 2_149 | 0 | 123.0 | Domain | UBC core |
| - 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 | UBE2L3 | chr22:26859883 | chr22:21947150 | ENST00000342192 | 0 | 4 | 2_149 | 9 | 155.0 | Domain | UBC core | |
| Tgene | UBE2L3 | chr22:26859883 | chr22:21947150 | ENST00000458578 | 0 | 4 | 2_149 | 67 | 213.0 | Domain | UBC core |
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Fusion Gene Sequence for HPS4-UBE2L3 |
| 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. |
| >37540_37540_1_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000336873_UBE2L3_chr22_21947150_ENST00000342192_length(transcript)=5025nt_BP=2222nt GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT ATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTC CTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCC CTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTT CTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCT GGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG CTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTC AGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGA CCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAG CCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATC CCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGAC TGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTG AAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTT ACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTC CTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTC TCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGG ATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCT CTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGC TGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGA TGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGG GAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACA TCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCA TAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGA ATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACC CCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAA CTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGT TTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCC ATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTT TCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGT GGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACA CCCCTCCTCCAGTCCTTCTCCTCAGTTCTTGTGTGAAACTCCAGCTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGT CAGTGTGTGTAACTGACCTCTGGCCTGGCCTGCACAGAGAAGCCCTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAG TCAGGAGGATGCTGTGCACACTGTGTGTGATGAATCTCGCCAGAAAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGT AGAAGATCTGCTGGTCCTTGCAGGCAAAGCTACAGCCAGAATGTCCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATG TGCCACGGAGCTTGCTCTCCACTTCCTCCGTGCAGTGGCCCTGCCACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATT AGCAGGACTCGGCTATTTAAAGCACCAGTCTGGGGTCGCCTGGGCCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAAC AAGACGGACTTCCTCTCCCTTCGGACTCACAGCCTTTGCAGAGTCAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTT TATATTGTTTTGACTGCCTTTTTTTGTAGAAATAAAAATTGACCTTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATG TCTTTTCAAGGCAAATGGGATTGTCCCCGCACTAGTAGAGAATCCATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTG TGTCACCAACCCCGCTTCTGCCACTGGCGGCTTCCCTTCTTGGCTCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGC TTTTTGTTTTAATTTTAATTCTATAACTTGAGATCTTTCCGGGGCCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGG GAGTGATGGGCAGGTTCGGCAGCCTAACATTGTTCAGGCGCATGGCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTAC GCCAAGGGCAGGTTTCTGGAGACTCCCTTGTGCCCGGGATGGCAAGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAA GTGATGATGGATTTTATTTCACTCACACTCCAGTTTGTAATAAAATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTG TTGCTTCTCTGGATCCAGAAATGTTGCCATTCTTGGAAACTGTCCCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAAC CCCTCACTGCACTCTGCTCATCACGGGAGGATACCTGTGTGCCGGCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTT GGCCCCGTCAGCAGAGGCTTGGCTTTCGAGCCAGTGGGTGTCTCTCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGG TAGGCTCTGAGCAAGCTGGCGAACAGCCCTGGCTGCTCCAAAACCAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCA CCCACTGCTGCCCCAAGCTCACTCAGGAATTCACACCCGCCTGGTTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCAC >37540_37540_1_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000336873_UBE2L3_chr22_21947150_ENST00000342192_length(amino acids)=716AA_BP=571 MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDY LWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSL ASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHS SQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKI -------------------------------------------------------------- >37540_37540_2_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000336873_UBE2L3_chr22_21947150_ENST00000458578_length(transcript)=3243nt_BP=2222nt GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT ATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTC CTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCC CTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTT CTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCT GGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG CTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTC AGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGA CCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAG CCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATC CCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGAC TGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTG AAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTT ACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTC CTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTC TCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGG ATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCT CTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGC TGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGA TGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGG GAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACA TCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCA TAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGA ATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACC CCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAA CTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGT TTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCC ATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTT TCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGT GGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACA >37540_37540_2_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000336873_UBE2L3_chr22_21947150_ENST00000458578_length(amino acids)=716AA_BP=571 MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDY LWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSL ASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKEL VFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHS SQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEINFPAEYPFKPPKI -------------------------------------------------------------- >37540_37540_3_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000398141_UBE2L3_chr22_21947150_ENST00000342192_length(transcript)=4555nt_BP=1752nt ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAAAATGGATGTTATGGAGCTTCAAGAAT CGAGTTACCCACCAGAACCCTAATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGT CTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGT GGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCT TGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGT GAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCT CAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGC GCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCAT GGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGG CCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTC TGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCC AGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCT GAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATC CAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATC AACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTC TGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCC CAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAG AAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACA CCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAAT CAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAA TCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGA AAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAG ACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGG GAGTTGGTTTAAATTCTCCTGACTCCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACACCCCTCCTCCAGTCCTTCTC CTCAGTTCTTGTGTGAAACTCCAGCTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGTCAGTGTGTGTAACTGACCTC TGGCCTGGCCTGCACAGAGAAGCCCTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAGTCAGGAGGATGCTGTGCACA CTGTGTGTGATGAATCTCGCCAGAAAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGTAGAAGATCTGCTGGTCCTTG CAGGCAAAGCTACAGCCAGAATGTCCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATGTGCCACGGAGCTTGCTCTCC ACTTCCTCCGTGCAGTGGCCCTGCCACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATTAGCAGGACTCGGCTATTTAA AGCACCAGTCTGGGGTCGCCTGGGCCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAACAAGACGGACTTCCTCTCCCT TCGGACTCACAGCCTTTGCAGAGTCAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTTTATATTGTTTTGACTGCCTT TTTTTGTAGAAATAAAAATTGACCTTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATGTCTTTTCAAGGCAAATGGGA TTGTCCCCGCACTAGTAGAGAATCCATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTGTGTCACCAACCCCGCTTCTG CCACTGGCGGCTTCCCTTCTTGGCTCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGCTTTTTGTTTTAATTTTAATT CTATAACTTGAGATCTTTCCGGGGCCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGGGAGTGATGGGCAGGTTCGGC AGCCTAACATTGTTCAGGCGCATGGCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTACGCCAAGGGCAGGTTTCTGGA GACTCCCTTGTGCCCGGGATGGCAAGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAAGTGATGATGGATTTTATTTC ACTCACACTCCAGTTTGTAATAAAATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTGTTGCTTCTCTGGATCCAGAA ATGTTGCCATTCTTGGAAACTGTCCCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAACCCCTCACTGCACTCTGCTCA TCACGGGAGGATACCTGTGTGCCGGCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTTGGCCCCGTCAGCAGAGGCTT GGCTTTCGAGCCAGTGGGTGTCTCTCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGGTAGGCTCTGAGCAAGCTGGC GAACAGCCCTGGCTGCTCCAAAACCAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCACCCACTGCTGCCCCAAGCTC ACTCAGGAATTCACACCCGCCTGGTTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCACCACGGCAGAGAATAGGCTTT >37540_37540_3_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000398141_UBE2L3_chr22_21947150_ENST00000342192_length(amino acids)=729AA_BP=584 MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAIS LHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARG EVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQH GAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISS RLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEI NFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTK -------------------------------------------------------------- >37540_37540_4_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000398141_UBE2L3_chr22_21947150_ENST00000458578_length(transcript)=2773nt_BP=1752nt ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGGAAAATGGATGTTATGGAGCTTCAAGAAT CGAGTTACCCACCAGAACCCTAATGGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGT CTCCACGAGTTCCCGGTGGAACAGATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGT GGGAGCACATCTGCCCTGAAAGAAAACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCT TGTCCAGATGGCAGGAAGGAGAACGGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGT GAGGTTCTTGGCCTCAGCTCCTCCCTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCT CAGGAAGTGGAAATGGCCTCAGGTCATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGC GCCTCCAGCAGCCTGGAACCCACGCCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCAT GGAGCCCAAGAGCAGCTCGAAGACCATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGG CCCTTGTTATTGCCTCGCTTAGATCCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTC TGTGAAAGCCACGCAGCCCCTGGTCTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCC AGGCTGACACCAGCAGAGTCCTGCATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCT GAGGAGCCGCTGCTGGGAGACAGCGCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATC CAGGTTGATGAAGCTAATTTATTGACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATC AACTTTCCAGCAGAGTACCCATTCAAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTC TGTCTGCCAGTAATTAGTGCCGAAAACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCC CAGCCTGAGCACCCGCTTCGGGCTGACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAG AAATATGGGGAAAAGCGACCTGTGGACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACA CCCCGCAAAGCAGGACTCTGTGGAAATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAAT CAAAAGTGGTCTAGGTAACCTGTAAAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAA TCTACTTCAAAAGAATGGTGTTTCTTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGA AAAAAAACGGTTGTGGTTCCCTTTCTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAG ACCCCGGGCTCGCCTCCACAAAGGAGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGG >37540_37540_4_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000398141_UBE2L3_chr22_21947150_ENST00000458578_length(amino acids)=729AA_BP=584 MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAIS LHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARG EVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQH GAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISS RLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEI NFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTK -------------------------------------------------------------- >37540_37540_5_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000402105_UBE2L3_chr22_21947150_ENST00000342192_length(transcript)=4801nt_BP=1998nt AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGA CAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAA GTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTC TTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAA ATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAG GCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTC CCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACAT GGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAG ATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAA AACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAAC GGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCC CTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGT CATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACG CCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGAC CATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGAT CCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGT CTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGC ATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGC GCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTG ACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTC AAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAA AACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCT GACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTG GACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGA AATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTA AAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTC TTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTT CTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGG AGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACT CCAGTTTATAACATCCTTTTAAAAAATTTAAAAACAAACAGCCACACCCCTCCTCCAGTCCTTCTCCTCAGTTCTTGTGTGAAACTCCAG CTGATGTTACCACAGTAACATCAGTTAATTGGGCAAGCCCTGATGTCAGTGTGTGTAACTGACCTCTGGCCTGGCCTGCACAGAGAAGCC CTATAATCACAGGTCTGTGGTGGCCCCGAAATGGGGGGCCTGCTAGTCAGGAGGATGCTGTGCACACTGTGTGTGATGAATCTCGCCAGA AAGGCTCCTGAGGTCCCAGGTTGGCACTTCTCCCTGCAGCCATTGTAGAAGATCTGCTGGTCCTTGCAGGCAAAGCTACAGCCAGAATGT CCGTTTGAAACTCCTAGCTCATCTGTCACCGAGCTTCATCCGAATGTGCCACGGAGCTTGCTCTCCACTTCCTCCGTGCAGTGGCCCTGC CACAGCCCTCCCTCGGCACACTTTGACCCTTTGTAGGATTGGAATTAGCAGGACTCGGCTATTTAAAGCACCAGTCTGGGGTCGCCTGGG CCCCTGCTGACCCCCTCCTCCAGAGCAGCCAGCCCAGCCCGGGAACAAGACGGACTTCCTCTCCCTTCGGACTCACAGCCTTTGCAGAGT CAAGCTCCACTTGAAGCTCACTCAGTAATATCCTTTCAATGTGTTTTATATTGTTTTGACTGCCTTTTTTTGTAGAAATAAAAATTGACC TTAGAATTTATCGTCAGATAAACTTGTAAAGATTTGAATATTAATGTCTTTTCAAGGCAAATGGGATTGTCCCCGCACTAGTAGAGAATC CATGTCGCTCTGACACCCCAAGGAAGCCGACGATCCAAATGCCGTGTGTCACCAACCCCGCTTCTGCCACTGGCGGCTTCCCTTCTTGGC TCTTGGGGGGGACTAGATCCTGTGGAGAAGATGACTTAAACTTTGCTTTTTGTTTTAATTTTAATTCTATAACTTGAGATCTTTCCGGGG CCTACAGGCGTGTAAGACAGCTTGGTCTGGTCTGTGCAGAAGTGGGGAGTGATGGGCAGGTTCGGCAGCCTAACATTGTTCAGGCGCATG GCCCCTGCGGTGTGTACACGAACTCGGCTTCTTTTGTCCTAGGTACGCCAAGGGCAGGTTTCTGGAGACTCCCTTGTGCCCGGGATGGCA AGGGCACCGGGCTGGCGTTTCCACATCTGTCTTCATTAGCAGAAAAGTGATGATGGATTTTATTTCACTCACACTCCAGTTTGTAATAAA ATGCCAAATTCTGTCAGCTATCCAAACAAGCCACCATTTGTTCTTGTTGCTTCTCTGGATCCAGAAATGTTGCCATTCTTGGAAACTGTC CCATTGCTTCGTATTTCTGCCAACGTAGCTCTGCCTGCCTGTCAACCCCTCACTGCACTCTGCTCATCACGGGAGGATACCTGTGTGCCG GCAGCCCCTCAGGGACTCTCAGCCCTGGCACTGGCACCCCAGGGTTGGCCCCGTCAGCAGAGGCTTGGCTTTCGAGCCAGTGGGTGTCTC TCCTTTGGGCCTGGGCGGCTTGCTCCTGCCAGCCATGCCTTCAGGGTAGGCTCTGAGCAAGCTGGCGAACAGCCCTGGCTGCTCCAAAAC CAAAAAGCTGGGTCCTCTGGAGGAGGGGCGAGCTGTGGAGCAGCCACCCACTGCTGCCCCAAGCTCACTCAGGAATTCACACCCGCCTGG TTTCTTGAAGTGTGCTGGGTCCTTCCCTCTGCTCCCTACTCCCCACCACGGCAGAGAATAGGCTTTCTAAGATGCTGCGATCCCGTTCTG >37540_37540_5_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000402105_UBE2L3_chr22_21947150_ENST00000342192_length(amino acids)=729AA_BP=584 MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRL RKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTK VEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAIS LHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARG EVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQH GAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISS RLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEI NFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTK -------------------------------------------------------------- >37540_37540_6_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000402105_UBE2L3_chr22_21947150_ENST00000458578_length(transcript)=3019nt_BP=1998nt AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGA CAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAA GTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTC TTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAA ATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAG GCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTC CCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACAT GGAGCGGCATTGCCCCCGAATGTCCAGATTATCCCTGTTTTTGTGACCAAAGAGGAAGCCATTAGTCTCCACGAGTTCCCGGTGGAACAG ATGACAAGGTCTCTAGCATCTCCAGCAGGACTCCAGGATGGTTCAGCCCAGCACCATCCAAAGGGTGGGAGCACATCTGCCCTGAAAGAA AACGCCACTGGCCATGTGGAATCCATGGCCTGGACCACCCCAGATCCCACATCCCCTGACGAAGCTTGTCCAGATGGCAGGAAGGAGAAC GGATGCTTGTCTGGCCATGATCTGGAGAGCATCAGGCCCGCAGGACTGCACAACTCTGCCAGGGGTGAGGTTCTTGGCCTCAGCTCCTCC CTGGGGAAGGAACTAGTCTTTCTCCAAGAAGAACTCGACTTGTCTGAAATCCACATTCCAGAGGCTCAGGAAGTGGAAATGGCCTCAGGT CATTTTGCCTTCCTACATGTGCCTGTTCCAGATGGCAGGGCTCCTTACTGCAAGGCATCTCTCAGCGCCTCCAGCAGCCTGGAACCCACG CCTCCTGAGGACACAGCCATCAGCAGCTTGCGCCCTCCCTCTGCTCCTGAGATGCTGACCCAGCATGGAGCCCAAGAGCAGCTCGAAGAC CATCCTGGCCATAGCAGCCAAGCCCCCATTCCCAGAGCAGACCCTCTCCCCAGAAGGACCCGCAGGCCCTTGTTATTGCCTCGCTTAGAT CCAGGACAGAGAGGAAACAAGCTTCCCACGGGGGAACAAGGCCTGGATGAGGATGTTGATGGGGTCTGTGAAAGCCACGCAGCCCCTGGT CTGGAATGCAGTTCAGGCTCAGCAAACTGTCAGGGTGCTGGCCCCTCTGCAGATGGAATCAGCTCCAGGCTGACACCAGCAGAGTCCTGC ATGGGGCTCGTGAGGATGAATCTCTACACTCACTGCGTCAAAGGGCTGGTGCTGTCCCTGCTGGCTGAGGAGCCGCTGCTGGGAGACAGC GCAGCCATAGAGGAAGTGGAGCTTGAAGAAATCCGCAAATGTGGGATGAAAAACTTCCGTAACATCCAGGTTGATGAAGCTAATTTATTG ACTTGGCAAGGGCTTATTGTTCCTGACAACCCTCCATATGATAAGGGAGCCTTCAGAATCGAAATCAACTTTCCAGCAGAGTACCCATTC AAACCACCGAAGATCACATTTAAAACAAAGATCTATCACCCAAACATCGACGAAAAGGGGCAGGTCTGTCTGCCAGTAATTAGTGCCGAA AACTGGAAGCCAGCAACCAAAACCGACCAAGTAATCCAGTCCCTCATAGCACTGGTGAATGACCCCCAGCCTGAGCACCCGCTTCGGGCT GACCTAGCTGAAGAATACTCTAAGGACCGTAAAAAATTCTGTAAGAATGCTGAAGAGTTTACAAAGAAATATGGGGAAAAGCGACCTGTG GACTAAAATCTGCCACGATTGGTTCCAGCAAGTGTGAGCAGAGACCCCGTGCAGTGCATTCAGACACCCCGCAAAGCAGGACTCTGTGGA AATTGACACGTGCCACCGCCTGGCGTTCGCTTGTGGCAGTTACTAACTTTCTACAGTTTTCTTAATCAAAAGTGGTCTAGGTAACCTGTA AAGAAAGGATTAAAAATTTAAGATGTTCTAGTTCTGCTCTCTTTGTTTTAAAAATCACTGCTTCAATCTACTTCAAAAGAATGGTGTTTC TTTTCTTGTCCAATTTTATCCAAAATCTTCAAGTTACATTTAACCCATAAGGTTTAAAAAAAAGGAAAAAAAACGGTTGTGGTTCCCTTT CTTCCCTACCCTTGCCACTCCCACTTTCTGGCACCGAGTTTATTTTTCACTTACTTACTTCCCCAGACCCCGGGCTCGCCTCCACAAAGG AGAAAAGACTGCCCTGGCGGTCCTGGTGGCTTTTCTTAGCATGTGTGGCACTGTTGCCCAGTGTGGGAGTTGGTTTAAATTCTCCTGACT >37540_37540_6_HPS4-UBE2L3_HPS4_chr22_26859883_ENST00000402105_UBE2L3_chr22_21947150_ENST00000458578_length(amino acids)=729AA_BP=584 MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRL RKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTK VEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAIS LHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARG EVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQH GAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISS RLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVELEEIRKCGMKNFRNIQVDEANLLTWQGLIVPDNPPYDKGAFRIEI NFPAEYPFKPPKITFKTKIYHPNIDEKGQVCLPVISAENWKPATKTDQVIQSLIALVNDPQPEHPLRADLAEEYSKDRKKFCKNAEEFTK -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for HPS4-UBE2L3 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for HPS4-UBE2L3 |
| 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 HPS4-UBE2L3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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