|
||||||
|
 | 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-FAM91A1 (FusionGDB2 ID:HG89781TG157769) |
Fusion Gene Summary for HPS4-FAM91A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HPS4-FAM91A1 | Fusion gene ID: hg89781tg157769 | Hgene | Tgene | Gene symbol | HPS4 | FAM91A1 | Gene ID | 89781 | 157769 |
| Gene name | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | family with sequence similarity 91 member A1 | |
| Synonyms | BLOC3S2|LE | - | |
| Cytomap | ('HPS4')('FAM91A1') 22q12.1 | 8q24.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Hermansky-Pudlak syndrome 4 proteinlight-ear protein homolog | protein FAM91A1skeletal muscle cells re-entry induced | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | . | Q658Y4 | |
| Ensembl transtripts involved in fusion gene | ENST00000398145, ENST00000336873, ENST00000398141, ENST00000402105, ENST00000493455, | ||
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 3 X 3 X 3=27 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HPS4 [Title/Abstract] AND FAM91A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | HPS4(26862191)-FAM91A1(124796709), # 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 | HPS4 | GO:0006605 | protein targeting | 12663659 |
| Hgene | HPS4 | GO:0007040 | lysosome organization | 12663659 |
| Hgene | HPS4 | GO:1903232 | melanosome assembly | 23084991 |
| Tgene | FAM91A1 | GO:0006886 | intracellular protein transport | 29426865 |
| Tgene | FAM91A1 | GO:0099041 | vesicle tethering to Golgi | 29426865 |
| 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. |
 |
| Fusion gene breakpoints across FAM91A1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene information * 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 | Non-Cancer | TCGA-CV-7425-11A | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
Top |
Fusion Gene ORF analysis for HPS4-FAM91A1 |
| 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 | ENST00000398145 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| Frame-shift | ENST00000398145 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| In-frame | ENST00000336873 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| In-frame | ENST00000336873 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| In-frame | ENST00000398141 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| In-frame | ENST00000398141 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| In-frame | ENST00000402105 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| In-frame | ENST00000402105 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| intron-3CDS | ENST00000493455 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| intron-3CDS | ENST00000493455 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + |
| 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 | 26862191 | - | ENST00000521166 | FAM91A1 | chr8 | 124796709 | + | 2447 | 691 | 0 | 2357 | 785 |
| ENST00000398141 | HPS4 | chr22 | 26862191 | - | ENST00000334705 | FAM91A1 | chr8 | 124796709 | + | 5253 | 691 | 0 | 2504 | 834 |
| ENST00000402105 | HPS4 | chr22 | 26862191 | - | ENST00000521166 | FAM91A1 | chr8 | 124796709 | + | 2747 | 991 | 246 | 2657 | 803 |
| ENST00000402105 | HPS4 | chr22 | 26862191 | - | ENST00000334705 | FAM91A1 | chr8 | 124796709 | + | 5553 | 991 | 246 | 2804 | 852 |
| ENST00000336873 | HPS4 | chr22 | 26862191 | - | ENST00000521166 | FAM91A1 | chr8 | 124796709 | + | 2971 | 1215 | 509 | 2881 | 790 |
| ENST00000336873 | HPS4 | chr22 | 26862191 | - | ENST00000334705 | FAM91A1 | chr8 | 124796709 | + | 5777 | 1215 | 509 | 3028 | 839 |
| 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 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.001003743 | 0.9989963 |
| ENST00000398141 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.000126033 | 0.999874 |
| ENST00000402105 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.000695474 | 0.99930453 |
| ENST00000402105 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.000120632 | 0.99987936 |
| ENST00000336873 | ENST00000521166 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.001480854 | 0.9985191 |
| ENST00000336873 | ENST00000334705 | HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.00017172 | 0.9998282 |
Top |
Fusion Genomic Features for HPS4-FAM91A1 |
| 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 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.007227793 | 0.99277216 |
| HPS4 | chr22 | 26862191 | - | FAM91A1 | chr8 | 124796709 | + | 0.007227793 | 0.99277216 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
 |
Top |
Fusion Protein Features for HPS4-FAM91A1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr22:26862191/chr8:124796709) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | FAM91A1 |
| 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}. | FUNCTION: As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1. {ECO:0000269|PubMed:29426865}. |
| 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 |
Top |
Fusion Gene Sequence for HPS4-FAM91A1 |
| 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. |
| >37539_37539_1_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000336873_FAM91A1_chr8_124796709_ENST00000334705_length(transcript)=5777nt_BP=1215nt GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT ATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTC CTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCC CTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTT CTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCT GGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG CTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTC AGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGTTCCACCTCTTGAAGGTTTTGTAATGAATCGAGTGCAAGGTGATT ATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAGCACACAAATGTTGCAGAGCTTGCAAATGTCCTTGAGATTGACTTAT CCCTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTTGCCCATAAGAAGGGACAAGTAATTAATTTGGATCAACTTCATTCAT CATGGAAGAATGTTCCATCCGTAAACAGATTAAAGAGTACCTTAGATCCACAGAAGATGCTCTTGTCATGGGATGGAGGGGAAAGTAGGA GTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAATAGTCAAGAAGATCCAGCTGACACAGCCAGTGTAAGCAGCCTGAGTC TGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCCACTCTTACTGCCTTCTTAATGATGGGAAATCTTTCACCAAACTTGA AAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGATGAGTCTCTGGACAGCTTTCTTATAGAACTAGAAAAGGTTCAGAGCA CTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACTCTGAGAAACACAATACTGTTTCTGCGTCATAACAAAGATCTAGTTG CGCAAACTGCACAGCCAGACCAACCCAATTATGGTTTTCCTCTGGATCTCTTACGCTGTGAAAGCCTTCTTGGTTTGGACCCTGCAACTT GCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATGGCTCCCCTCACCAATGAAATCCGGCCTGTCAGCAGCTGCACCCCTC AGCATATTGGACCAGCTATCCCAGAAGTCAGCTCTGTCTGGTTTAAACTGTACATTTATCATGTCACTGGACAAGGACCACCATCCCTTT TATTGTCCAAAGGTACAAGACTTCGAAAACTGCCAGATATATTTCAGAGTTATGATCGATTGCTAATAACATCTTGGGGTCATGATCCTG GAGTAGTTCCTACCTCAAATGTGCTCACGATGTTGAATGATGCTTTAACACATTCTGCAGTTTTAATTCAGGGGCATGGTCTGCATGGGA TAGGAGAAACTGTCCATGTCCCATTTCCATTTGATGAAACAGAACTACAAGGAGAGTTCACTCGTGTCAATATGGGTGTTCATAAAGCAT TGCAGATACTAAGGAACAGAGTGGACTTACAGCATCTCTGTGGATATGTCACCATGTTGAATGCTTCCAGCCAACTTGCAGATAGAAAAC TCAGTGATGCTTCTGATGAGAGAGGAGAACCTGATTTGGCTTCTGGCTCAGATGTAAATGGGAGTACAGAGTCATTTGAAATGGTCATTG AGGAAGCAACTATAGATTCAGCAACAAAGCAAACCTCTGGTGCCACAACAGAAGCAGATTGGGTTCCTCTCGAGCTGTGCTTTGGAATTC CACTGTTCAGTTCCGAATTAAACCGGAAAGTTTGTAGGAAAATTGCTGCACATGGCCTTTGCAGAAAAGAGAGCCTTCAAAACCTCTTAC ATTCCAGTAGAAAACTCTCTCTGCAAGTCCTTAACTTTGTTCACTCATTCCAGGAAGGTGCTTCAATATTGGATATTCACACAGAGCCCA GTTTTTCAAGTTTGCTTTCACAGTCATCGTGTGCTGACATGGGTGTTCCACTTCCTGCAAAAAACTTAATATTTAAAGATGGTGTCTTAT CAGAATGGAGTGGACGGTCACCTTCCTCACTTCTTATTGCTAATCTCCATTTGCAATAATTTGGTTACACCATTTGTTGCTCACACTTTC TGCCTTTTTTCTTTCTTAACGTTAGCTTTATAGTGTCAGCCACTAAAAAGCATCCTGCTGCTGCAGTGCAATTCTTGCTTAACTAATATT AAAAGTTGGGGAACATATTCATGTTTTCTGAAGTTTTGCTCATTATTGCACATCTTATTGCGACAAAGTGCTTTTTAGCAGCCAGCACTG TATTTTTTACCTTGAGACAATCTGCATTTCTTTTATAAAACTAAGTATATACTTTATAGGCTTTATGATGACTGTTATGTTTATAAGCAG TCACTATGAAAATTGCAATGGTAATTTTATATGTTAGTTTATCAAACATAAATCTTGTTTAATTTTATATTTTGTTACCTATACTTTGGG GGATCAAGGGAAGAGATGGAACTCTTCCTCTGAAAAGGCTTCTTGGTACTTAAAGTAGTAAAACTATAAAACAATAAACATCCAGTATTG AGAGATGATATGATAGGGCATTATGAATTCCTATGGGTGTCTGTAAATTATGTATGTCAGTTGGACATTGTAGAAGGTATGTAAATCAGC ATAGTTGTGTATAACTTAACCTTGATTTATAAGGTCTTAAGATTATGACTATTCATTGACATCTCATGAGAAGCTTTAGAAGACTTTCTA TTTTTAAACACCATTTATATGTGGACTTCTGTTGTCACTGACTTTGGGCTTTATATTTTCATAGAGTCTTTATGGAAAAAATAGAATTTA TTTTCCACTCTTGTAGCTATAGCTGCTGCACACTTTCACCCTGATTTATTTTTTTGTTTCTTAGCTTTGATGTTTTCAAACCAAGGATTG TGATTTTAGGTTAGAATTACATATTAGAAGCATTAAGACTATGTCTTTGGATCAGAATGCTTTAGTGATAAACCTACTTTGAAGACATAC TCTTAAGCAATCTGGATCTTAAATTTATGTGAATACTTTTTTAGAAAATGATAAAGAAAAATGGAATTACTTCAAAGTGTTTCTTGAGTC ATTGATTCTTTTAGCATCTCAAATGTTAATTAGAATAATTGGAATCACTTTTTAGACTTTTCAAGTTACCTTCCTTGGGAAGTTTGTGCA GTGTTATAGTTTAGTTTAGCTCCTCTTACAGGGTAATGGTTTGCTAGTTTAAAACTGTAACCAAACGAACTGGTCAGACAACATATATCT AAAACACTTAAAATGTTAGGAAGTTTGGGAATGTTATAACCTAAACGTTTTTGCTGGTAACTTTTTGTTATTTATAGATATTTGTGTATT TAACATACATACTTCAGGAAATATATGCCTTTCCTAAAACTTAACCATGCATTCAATACCATGGCCTATCTATAGAATTGAATATTTTGG ACCATGTTATCTGTGGCACAGTCAGTGCTGTGTTTGAGGTAAATGCAGTAACGGTTAGTTTTCTACTTTGTCTTATAGAAGGTAGAAACC ATGTGTATGTTATGTTTGTCTATAAAAGAAAAAATACTAATATTAAATAATTTCTTACGACTCTGAGTCACTCACTTATTTTTCCAATAA TTGATATTGTACATTCCTAGTGCCATTAGGTATGTATGTATGTAACTTTTACAGTTTTTCAGCTGAAAGTTGTAAGTATTTTTTTTTTTT GATCGGGGCTCTTTAATCTCATTTTAATTTCCTTTGTTTGAACTGTAGTTATTTTATTTATTCCTATATTAACCATCTAAACCAACTGTA ATGACATGTACACTAATACAGAATTGAACATTTGTAGTTGTTGGCAGTGAACCCAGTTGTTGGTGAATTTAAAGCTTAAAATATGGGAAT GATTTGCTGCTATATTTCCTTTGAGAGAGAAAGGAGGAAGAAATAGAACCTAATAGTGATCATGAATTTTAGGGAAAGTACCGAAGAACC ATGGGGTCCCCTCTGGTTTCTTGTGTTGAATGAGGCAAGGGTAATCATCTGATTCCGAGCTGAAGACCTCTGGTCCTCTTAAGGAGGGAG AGTGCATTTTTAGAGCTTTTAGCAAAATGTGAAAAGCTGATGTTTGCGCCTTGCTTTGTGAATTTGGCTTTGTTTTACTTATACATTAAC TCATGTAATCTCTTAAATCTTACAAGCATTGATCCATTTCAACAAAAAGGTAAATTTAAAATGCAGACTTTGTTATTTGCCAAAGAAGAT TCATGAAAAATTTACGTCCAATTATTTTGCAAATAGTTAATTTCATTTGGCTTTTTACCATGTTCCTTCCTTTCTTTTTCCCGCTTCCTT AATGTAATTTAAACCCTGGCAAACATTCTTTAGAAACCAAGAGGAAAGAAAGAACAAATATCAAAAAAGACATAGAATTTAATATTGATA CAATTTCACCTCTAAAATGGATTTGAAGAAATGCAACTTTATATCAAAAAATGTCATCTGATTTCCTTTGTTTCTTTTTTAAATTATGTA ATCAGATGATTTTATGTTTTTTTTTCAGGGGAGCGGAATATTGGTTTCTTTTACTTGTTGTTTTCAGTTTTCTCTGCCATTCATGTTTCT TTTTTGTGTTCAGTGTTTCAAATACAATTTGTATTTAAGGATTTTAAAATACCAAACTGTAACTGAGTACAGTGGATCGTTTTCTGTTAG GATGTTAATATTATACAATGAAATCTATAAAGTGTTGTCAATTTGATTATTGACACATATAACATGTTTACAAATAAACTGTGGTATTGA TCAAGTTACTATGAAAA >37539_37539_1_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000336873_FAM91A1_chr8_124796709_ENST00000334705_length(amino acids)=839AA_BP=235 MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDY LWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVA ELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDP ADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTI LFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIY HVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEF TRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEAD WVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQEGASILDIHTEPSFSSLLSQSSCADMGVPLPA KNLIFKDGVLSEWSGRSPSSLLIANLHLQ -------------------------------------------------------------- >37539_37539_2_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000336873_FAM91A1_chr8_124796709_ENST00000521166_length(transcript)=2971nt_BP=1215nt GTGACCTAAGGCCTCTCTGCCGCGCGCGCAGAGCCAAGGCACTGATGTTTGAACTGGAAACTTCAAAACGTTTAATAAGAGTCTTCAGGA TGGGTTTGAACTAGACAAGCTAGAAATTTCTTTAGAACACCAGCTCTAGCATGCATCTCCCACTTTTGGCTTTCCTGGAGAGGAGCTTGA AGAGGTGGTTCTGCAGACAGCCACAGTGATACTTAGGAAACCAGAGGAATGGATTTGACTTTTCTGCTAGGATTCTCTGTTATAGTTTCT CCCTGAGTTGTAAGAGGCATGGAAATATACATGAAACTGAAGAACCTGCAAGGAAGGGAAGTGGAACTTTCCATGCTGAGTGAAAACTAA CCAAGTGGCAGTTGTGACTGAAAACACTGAAACCTACCACGTCCAGATTCACTGGATTGGGGGATAGAGGAACGGTCACAGCTAGGGAGA AAGAAGTGATACCGGAAAAGAAAACCTAAATGAAGAGAATGAGGATGACTGCACAGTAGATGGCCACCTCTACCTCCACAGAGGCAAAGT CAGCCTCGTGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTT ATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTC CTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCC CTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTT CTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCT GGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCG CTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTC AGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGTTCCACCTCTTGAAGGTTTTGTAATGAATCGAGTGCAAGGTGATT ATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAGCACACAAATGTTGCAGAGCTTGCAAATGTCCTTGAGATTGACTTAT CCCTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTTGCCCATAAGAAGGGACAAGTAATTAATTTGGATCAACTTCATTCAT CATGGAAGAATGTTCCATCCGTAAACAGATTAAAGAGTACCTTAGATCCACAGAAGATGCTCTTGTCATGGGATGGAGGGGAAAGTAGGA GTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAATAGTCAAGAAGATCCAGCTGACACAGCCAGTGTAAGCAGCCTGAGTC TGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCCACTCTTACTGCCTTCTTAATGATGGGAAATCTTTCACCAAACTTGA AAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGATGAGTCTCTGGACAGCTTTCTTATAGAACTAGAAAAGGTTCAGAGCA CTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACTCTGAGAAACACAATACTGTTTCTGCGTCATAACAAAGATCTAGTTG CGCAAACTGCACAGCCAGACCAACCCAATTATGGTTTTCCTCTGGATCTCTTACGCTGTGAAAGCCTTCTTGGTTTGGACCCTGCAACTT GCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATGGCTCCCCTCACCAATGAAATCCGGCCTGTCAGCAGCTGCACCCCTC AGCATATTGGACCAGCTATCCCAGAAGTCAGCTCTGTCTGGTTTAAACTGTACATTTATCATGTCACTGGACAAGGACCACCATCCCTTT TATTGTCCAAAGGTACAAGACTTCGAAAACTGCCAGATATATTTCAGAGTTATGATCGATTGCTAATAACATCTTGGGGTCATGATCCTG GAGTAGTTCCTACCTCAAATGTGCTCACGATGTTGAATGATGCTTTAACACATTCTGCAGTTTTAATTCAGGGGCATGGTCTGCATGGGA TAGGAGAAACTGTCCATGTCCCATTTCCATTTGATGAAACAGAACTACAAGGAGAGTTCACTCGTGTCAATATGGGTGTTCATAAAGCAT TGCAGATACTAAGGAACAGAGTGGACTTACAGCATCTCTGTGGATATGTCACCATGTTGAATGCTTCCAGCCAACTTGCAGATAGAAAAC TCAGTGATGCTTCTGATGAGAGAGGAGAACCTGATTTGGCTTCTGGCTCAGATGTAAATGGGAGTACAGAGTCATTTGAAATGGTCATTG AGGAAGCAACTATAGATTCAGCAACAAAGCAAACCTCTGGTGCCACAACAGAAGCAGATTGGGTTCCTCTCGAGCTGTGCTTTGGAATTC CACTGTTCAGTTCCGAATTAAACCGGAAAGTTTGTAGGAAAATTGCTGCACATGGCCTTTGCAGAAAAGAGAGCCTTCAAAACCTCTTAC ATTCCAGTAGAAAACTCTCTCTGCAAGTCCTTAACTTTGTTCACTCATTCCAGGTAACAAAAACCAAAAAGTCCAAATGGTACTTGTACT GAGCTTTAAGTATGCACAACACTTCTGTGTTTGTTTTTGAGTCACCACAGCAGCAAGATATGAAATAAACATTAATTTTATTGTACAAAT G >37539_37539_2_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000336873_FAM91A1_chr8_124796709_ENST00000521166_length(amino acids)=790AA_BP=235 MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDY LWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARIL QTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVA ELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDP ADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTI LFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIY HVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEF TRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEAD WVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQVTKTKKSKWYLY -------------------------------------------------------------- >37539_37539_3_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000398141_FAM91A1_chr8_124796709_ENST00000334705_length(transcript)=5253nt_BP=691nt ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGTTCCACCTCTTGAAGGTTTTGTAATGAAT CGAGTGCAAGGTGATTATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAGCACACAAATGTTGCAGAGCTTGCAAATGTC CTTGAGATTGACTTATCCCTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTTGCCCATAAGAAGGGACAAGTAATTAATTTG GATCAACTTCATTCATCATGGAAGAATGTTCCATCCGTAAACAGATTAAAGAGTACCTTAGATCCACAGAAGATGCTCTTGTCATGGGAT GGAGGGGAAAGTAGGAGTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAATAGTCAAGAAGATCCAGCTGACACAGCCAGT GTAAGCAGCCTGAGTCTGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCCACTCTTACTGCCTTCTTAATGATGGGAAAT CTTTCACCAAACTTGAAAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGATGAGTCTCTGGACAGCTTTCTTATAGAACTA GAAAAGGTTCAGAGCACTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACTCTGAGAAACACAATACTGTTTCTGCGTCAT AACAAAGATCTAGTTGCGCAAACTGCACAGCCAGACCAACCCAATTATGGTTTTCCTCTGGATCTCTTACGCTGTGAAAGCCTTCTTGGT TTGGACCCTGCAACTTGCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATGGCTCCCCTCACCAATGAAATCCGGCCTGTC AGCAGCTGCACCCCTCAGCATATTGGACCAGCTATCCCAGAAGTCAGCTCTGTCTGGTTTAAACTGTACATTTATCATGTCACTGGACAA GGACCACCATCCCTTTTATTGTCCAAAGGTACAAGACTTCGAAAACTGCCAGATATATTTCAGAGTTATGATCGATTGCTAATAACATCT TGGGGTCATGATCCTGGAGTAGTTCCTACCTCAAATGTGCTCACGATGTTGAATGATGCTTTAACACATTCTGCAGTTTTAATTCAGGGG CATGGTCTGCATGGGATAGGAGAAACTGTCCATGTCCCATTTCCATTTGATGAAACAGAACTACAAGGAGAGTTCACTCGTGTCAATATG GGTGTTCATAAAGCATTGCAGATACTAAGGAACAGAGTGGACTTACAGCATCTCTGTGGATATGTCACCATGTTGAATGCTTCCAGCCAA CTTGCAGATAGAAAACTCAGTGATGCTTCTGATGAGAGAGGAGAACCTGATTTGGCTTCTGGCTCAGATGTAAATGGGAGTACAGAGTCA TTTGAAATGGTCATTGAGGAAGCAACTATAGATTCAGCAACAAAGCAAACCTCTGGTGCCACAACAGAAGCAGATTGGGTTCCTCTCGAG CTGTGCTTTGGAATTCCACTGTTCAGTTCCGAATTAAACCGGAAAGTTTGTAGGAAAATTGCTGCACATGGCCTTTGCAGAAAAGAGAGC CTTCAAAACCTCTTACATTCCAGTAGAAAACTCTCTCTGCAAGTCCTTAACTTTGTTCACTCATTCCAGGAAGGTGCTTCAATATTGGAT ATTCACACAGAGCCCAGTTTTTCAAGTTTGCTTTCACAGTCATCGTGTGCTGACATGGGTGTTCCACTTCCTGCAAAAAACTTAATATTT AAAGATGGTGTCTTATCAGAATGGAGTGGACGGTCACCTTCCTCACTTCTTATTGCTAATCTCCATTTGCAATAATTTGGTTACACCATT TGTTGCTCACACTTTCTGCCTTTTTTCTTTCTTAACGTTAGCTTTATAGTGTCAGCCACTAAAAAGCATCCTGCTGCTGCAGTGCAATTC TTGCTTAACTAATATTAAAAGTTGGGGAACATATTCATGTTTTCTGAAGTTTTGCTCATTATTGCACATCTTATTGCGACAAAGTGCTTT TTAGCAGCCAGCACTGTATTTTTTACCTTGAGACAATCTGCATTTCTTTTATAAAACTAAGTATATACTTTATAGGCTTTATGATGACTG TTATGTTTATAAGCAGTCACTATGAAAATTGCAATGGTAATTTTATATGTTAGTTTATCAAACATAAATCTTGTTTAATTTTATATTTTG TTACCTATACTTTGGGGGATCAAGGGAAGAGATGGAACTCTTCCTCTGAAAAGGCTTCTTGGTACTTAAAGTAGTAAAACTATAAAACAA TAAACATCCAGTATTGAGAGATGATATGATAGGGCATTATGAATTCCTATGGGTGTCTGTAAATTATGTATGTCAGTTGGACATTGTAGA AGGTATGTAAATCAGCATAGTTGTGTATAACTTAACCTTGATTTATAAGGTCTTAAGATTATGACTATTCATTGACATCTCATGAGAAGC TTTAGAAGACTTTCTATTTTTAAACACCATTTATATGTGGACTTCTGTTGTCACTGACTTTGGGCTTTATATTTTCATAGAGTCTTTATG GAAAAAATAGAATTTATTTTCCACTCTTGTAGCTATAGCTGCTGCACACTTTCACCCTGATTTATTTTTTTGTTTCTTAGCTTTGATGTT TTCAAACCAAGGATTGTGATTTTAGGTTAGAATTACATATTAGAAGCATTAAGACTATGTCTTTGGATCAGAATGCTTTAGTGATAAACC TACTTTGAAGACATACTCTTAAGCAATCTGGATCTTAAATTTATGTGAATACTTTTTTAGAAAATGATAAAGAAAAATGGAATTACTTCA AAGTGTTTCTTGAGTCATTGATTCTTTTAGCATCTCAAATGTTAATTAGAATAATTGGAATCACTTTTTAGACTTTTCAAGTTACCTTCC TTGGGAAGTTTGTGCAGTGTTATAGTTTAGTTTAGCTCCTCTTACAGGGTAATGGTTTGCTAGTTTAAAACTGTAACCAAACGAACTGGT CAGACAACATATATCTAAAACACTTAAAATGTTAGGAAGTTTGGGAATGTTATAACCTAAACGTTTTTGCTGGTAACTTTTTGTTATTTA TAGATATTTGTGTATTTAACATACATACTTCAGGAAATATATGCCTTTCCTAAAACTTAACCATGCATTCAATACCATGGCCTATCTATA GAATTGAATATTTTGGACCATGTTATCTGTGGCACAGTCAGTGCTGTGTTTGAGGTAAATGCAGTAACGGTTAGTTTTCTACTTTGTCTT ATAGAAGGTAGAAACCATGTGTATGTTATGTTTGTCTATAAAAGAAAAAATACTAATATTAAATAATTTCTTACGACTCTGAGTCACTCA CTTATTTTTCCAATAATTGATATTGTACATTCCTAGTGCCATTAGGTATGTATGTATGTAACTTTTACAGTTTTTCAGCTGAAAGTTGTA AGTATTTTTTTTTTTTGATCGGGGCTCTTTAATCTCATTTTAATTTCCTTTGTTTGAACTGTAGTTATTTTATTTATTCCTATATTAACC ATCTAAACCAACTGTAATGACATGTACACTAATACAGAATTGAACATTTGTAGTTGTTGGCAGTGAACCCAGTTGTTGGTGAATTTAAAG CTTAAAATATGGGAATGATTTGCTGCTATATTTCCTTTGAGAGAGAAAGGAGGAAGAAATAGAACCTAATAGTGATCATGAATTTTAGGG AAAGTACCGAAGAACCATGGGGTCCCCTCTGGTTTCTTGTGTTGAATGAGGCAAGGGTAATCATCTGATTCCGAGCTGAAGACCTCTGGT CCTCTTAAGGAGGGAGAGTGCATTTTTAGAGCTTTTAGCAAAATGTGAAAAGCTGATGTTTGCGCCTTGCTTTGTGAATTTGGCTTTGTT TTACTTATACATTAACTCATGTAATCTCTTAAATCTTACAAGCATTGATCCATTTCAACAAAAAGGTAAATTTAAAATGCAGACTTTGTT ATTTGCCAAAGAAGATTCATGAAAAATTTACGTCCAATTATTTTGCAAATAGTTAATTTCATTTGGCTTTTTACCATGTTCCTTCCTTTC TTTTTCCCGCTTCCTTAATGTAATTTAAACCCTGGCAAACATTCTTTAGAAACCAAGAGGAAAGAAAGAACAAATATCAAAAAAGACATA GAATTTAATATTGATACAATTTCACCTCTAAAATGGATTTGAAGAAATGCAACTTTATATCAAAAAATGTCATCTGATTTCCTTTGTTTC TTTTTTAAATTATGTAATCAGATGATTTTATGTTTTTTTTTCAGGGGAGCGGAATATTGGTTTCTTTTACTTGTTGTTTTCAGTTTTCTC TGCCATTCATGTTTCTTTTTTGTGTTCAGTGTTTCAAATACAATTTGTATTTAAGGATTTTAAAATACCAAACTGTAACTGAGTACAGTG GATCGTTTTCTGTTAGGATGTTAATATTATACAATGAAATCTATAAAGTGTTGTCAATTTGATTATTGACACATATAACATGTTTACAAA TAAACTGTGGTATTGATCAAGTTACTATGAAAA >37539_37539_3_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000398141_FAM91A1_chr8_124796709_ENST00000334705_length(amino acids)=834AA_BP=230 MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANV LEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTAS VSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTILFLRH NKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIYHVTGQ GPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEFTRVNM GVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEADWVPLE LCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQEGASILDIHTEPSFSSLLSQSSCADMGVPLPAKNLIF KDGVLSEWSGRSPSSLLIANLHLQ -------------------------------------------------------------- >37539_37539_4_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000398141_FAM91A1_chr8_124796709_ENST00000521166_length(transcript)=2447nt_BP=691nt ATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAGGTAAAGGAAGAAGGCGATCCAACAAGAGCT GGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGACAGATTGCTGGAGTTGTCCGCTGTGTTTCT GACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAAGTTGATGGAGATTACCTTTGGGTGCTGGGC TGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTCTTTAATTTTTACAATGGACCTGTTTCCCTA GCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAAATTCTGAAAAACACCAGTGATCTGCATAAG ATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAGGCAGCCCGCATTCTGCAGACCTGCCAGCGC TCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTCCCGCCCTCCCTCACCGCCAAGGTCCTGCTT CACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACATGTTCCACCTCTTGAAGGTTTTGTAATGAAT CGAGTGCAAGGTGATTATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAGCACACAAATGTTGCAGAGCTTGCAAATGTC CTTGAGATTGACTTATCCCTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTTGCCCATAAGAAGGGACAAGTAATTAATTTG GATCAACTTCATTCATCATGGAAGAATGTTCCATCCGTAAACAGATTAAAGAGTACCTTAGATCCACAGAAGATGCTCTTGTCATGGGAT GGAGGGGAAAGTAGGAGTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAATAGTCAAGAAGATCCAGCTGACACAGCCAGT GTAAGCAGCCTGAGTCTGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCCACTCTTACTGCCTTCTTAATGATGGGAAAT CTTTCACCAAACTTGAAAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGATGAGTCTCTGGACAGCTTTCTTATAGAACTA GAAAAGGTTCAGAGCACTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACTCTGAGAAACACAATACTGTTTCTGCGTCAT AACAAAGATCTAGTTGCGCAAACTGCACAGCCAGACCAACCCAATTATGGTTTTCCTCTGGATCTCTTACGCTGTGAAAGCCTTCTTGGT TTGGACCCTGCAACTTGCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATGGCTCCCCTCACCAATGAAATCCGGCCTGTC AGCAGCTGCACCCCTCAGCATATTGGACCAGCTATCCCAGAAGTCAGCTCTGTCTGGTTTAAACTGTACATTTATCATGTCACTGGACAA GGACCACCATCCCTTTTATTGTCCAAAGGTACAAGACTTCGAAAACTGCCAGATATATTTCAGAGTTATGATCGATTGCTAATAACATCT TGGGGTCATGATCCTGGAGTAGTTCCTACCTCAAATGTGCTCACGATGTTGAATGATGCTTTAACACATTCTGCAGTTTTAATTCAGGGG CATGGTCTGCATGGGATAGGAGAAACTGTCCATGTCCCATTTCCATTTGATGAAACAGAACTACAAGGAGAGTTCACTCGTGTCAATATG GGTGTTCATAAAGCATTGCAGATACTAAGGAACAGAGTGGACTTACAGCATCTCTGTGGATATGTCACCATGTTGAATGCTTCCAGCCAA CTTGCAGATAGAAAACTCAGTGATGCTTCTGATGAGAGAGGAGAACCTGATTTGGCTTCTGGCTCAGATGTAAATGGGAGTACAGAGTCA TTTGAAATGGTCATTGAGGAAGCAACTATAGATTCAGCAACAAAGCAAACCTCTGGTGCCACAACAGAAGCAGATTGGGTTCCTCTCGAG CTGTGCTTTGGAATTCCACTGTTCAGTTCCGAATTAAACCGGAAAGTTTGTAGGAAAATTGCTGCACATGGCCTTTGCAGAAAAGAGAGC CTTCAAAACCTCTTACATTCCAGTAGAAAACTCTCTCTGCAAGTCCTTAACTTTGTTCACTCATTCCAGGTAACAAAAACCAAAAAGTCC AAATGGTACTTGTACTGAGCTTTAAGTATGCACAACACTTCTGTGTTTGTTTTTGAGTCACCACAGCAGCAAGATATGAAATAAACATTA ATTTTATTGTACAAATG >37539_37539_4_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000398141_FAM91A1_chr8_124796709_ENST00000521166_length(amino acids)=785AA_BP=230 MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIKVDGDYLWVLG CAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTKVEPLLLLKAARILQTCQR SPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANV LEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTAS VSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQRYFDHALTLRNTILFLRH NKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAIPEVSSVWFKLYIYHVTGQ GPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHVPFPFDETELQGEFTRVNM GVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDSATKQTSGATTEADWVPLE LCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQVTKTKKSKWYLY -------------------------------------------------------------- >37539_37539_5_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000402105_FAM91A1_chr8_124796709_ENST00000334705_length(transcript)=5553nt_BP=991nt AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGA CAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAA GTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTC TTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAA ATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAG GCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTC CCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACAT GTTCCACCTCTTGAAGGTTTTGTAATGAATCGAGTGCAAGGTGATTATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAG CACACAAATGTTGCAGAGCTTGCAAATGTCCTTGAGATTGACTTATCCCTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTT GCCCATAAGAAGGGACAAGTAATTAATTTGGATCAACTTCATTCATCATGGAAGAATGTTCCATCCGTAAACAGATTAAAGAGTACCTTA GATCCACAGAAGATGCTCTTGTCATGGGATGGAGGGGAAAGTAGGAGTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAAT AGTCAAGAAGATCCAGCTGACACAGCCAGTGTAAGCAGCCTGAGTCTGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCC ACTCTTACTGCCTTCTTAATGATGGGAAATCTTTCACCAAACTTGAAAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGAT GAGTCTCTGGACAGCTTTCTTATAGAACTAGAAAAGGTTCAGAGCACTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACT CTGAGAAACACAATACTGTTTCTGCGTCATAACAAAGATCTAGTTGCGCAAACTGCACAGCCAGACCAACCCAATTATGGTTTTCCTCTG GATCTCTTACGCTGTGAAAGCCTTCTTGGTTTGGACCCTGCAACTTGCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATG GCTCCCCTCACCAATGAAATCCGGCCTGTCAGCAGCTGCACCCCTCAGCATATTGGACCAGCTATCCCAGAAGTCAGCTCTGTCTGGTTT AAACTGTACATTTATCATGTCACTGGACAAGGACCACCATCCCTTTTATTGTCCAAAGGTACAAGACTTCGAAAACTGCCAGATATATTT CAGAGTTATGATCGATTGCTAATAACATCTTGGGGTCATGATCCTGGAGTAGTTCCTACCTCAAATGTGCTCACGATGTTGAATGATGCT TTAACACATTCTGCAGTTTTAATTCAGGGGCATGGTCTGCATGGGATAGGAGAAACTGTCCATGTCCCATTTCCATTTGATGAAACAGAA CTACAAGGAGAGTTCACTCGTGTCAATATGGGTGTTCATAAAGCATTGCAGATACTAAGGAACAGAGTGGACTTACAGCATCTCTGTGGA TATGTCACCATGTTGAATGCTTCCAGCCAACTTGCAGATAGAAAACTCAGTGATGCTTCTGATGAGAGAGGAGAACCTGATTTGGCTTCT GGCTCAGATGTAAATGGGAGTACAGAGTCATTTGAAATGGTCATTGAGGAAGCAACTATAGATTCAGCAACAAAGCAAACCTCTGGTGCC ACAACAGAAGCAGATTGGGTTCCTCTCGAGCTGTGCTTTGGAATTCCACTGTTCAGTTCCGAATTAAACCGGAAAGTTTGTAGGAAAATT GCTGCACATGGCCTTTGCAGAAAAGAGAGCCTTCAAAACCTCTTACATTCCAGTAGAAAACTCTCTCTGCAAGTCCTTAACTTTGTTCAC TCATTCCAGGAAGGTGCTTCAATATTGGATATTCACACAGAGCCCAGTTTTTCAAGTTTGCTTTCACAGTCATCGTGTGCTGACATGGGT GTTCCACTTCCTGCAAAAAACTTAATATTTAAAGATGGTGTCTTATCAGAATGGAGTGGACGGTCACCTTCCTCACTTCTTATTGCTAAT CTCCATTTGCAATAATTTGGTTACACCATTTGTTGCTCACACTTTCTGCCTTTTTTCTTTCTTAACGTTAGCTTTATAGTGTCAGCCACT AAAAAGCATCCTGCTGCTGCAGTGCAATTCTTGCTTAACTAATATTAAAAGTTGGGGAACATATTCATGTTTTCTGAAGTTTTGCTCATT ATTGCACATCTTATTGCGACAAAGTGCTTTTTAGCAGCCAGCACTGTATTTTTTACCTTGAGACAATCTGCATTTCTTTTATAAAACTAA GTATATACTTTATAGGCTTTATGATGACTGTTATGTTTATAAGCAGTCACTATGAAAATTGCAATGGTAATTTTATATGTTAGTTTATCA AACATAAATCTTGTTTAATTTTATATTTTGTTACCTATACTTTGGGGGATCAAGGGAAGAGATGGAACTCTTCCTCTGAAAAGGCTTCTT GGTACTTAAAGTAGTAAAACTATAAAACAATAAACATCCAGTATTGAGAGATGATATGATAGGGCATTATGAATTCCTATGGGTGTCTGT AAATTATGTATGTCAGTTGGACATTGTAGAAGGTATGTAAATCAGCATAGTTGTGTATAACTTAACCTTGATTTATAAGGTCTTAAGATT ATGACTATTCATTGACATCTCATGAGAAGCTTTAGAAGACTTTCTATTTTTAAACACCATTTATATGTGGACTTCTGTTGTCACTGACTT TGGGCTTTATATTTTCATAGAGTCTTTATGGAAAAAATAGAATTTATTTTCCACTCTTGTAGCTATAGCTGCTGCACACTTTCACCCTGA TTTATTTTTTTGTTTCTTAGCTTTGATGTTTTCAAACCAAGGATTGTGATTTTAGGTTAGAATTACATATTAGAAGCATTAAGACTATGT CTTTGGATCAGAATGCTTTAGTGATAAACCTACTTTGAAGACATACTCTTAAGCAATCTGGATCTTAAATTTATGTGAATACTTTTTTAG AAAATGATAAAGAAAAATGGAATTACTTCAAAGTGTTTCTTGAGTCATTGATTCTTTTAGCATCTCAAATGTTAATTAGAATAATTGGAA TCACTTTTTAGACTTTTCAAGTTACCTTCCTTGGGAAGTTTGTGCAGTGTTATAGTTTAGTTTAGCTCCTCTTACAGGGTAATGGTTTGC TAGTTTAAAACTGTAACCAAACGAACTGGTCAGACAACATATATCTAAAACACTTAAAATGTTAGGAAGTTTGGGAATGTTATAACCTAA ACGTTTTTGCTGGTAACTTTTTGTTATTTATAGATATTTGTGTATTTAACATACATACTTCAGGAAATATATGCCTTTCCTAAAACTTAA CCATGCATTCAATACCATGGCCTATCTATAGAATTGAATATTTTGGACCATGTTATCTGTGGCACAGTCAGTGCTGTGTTTGAGGTAAAT GCAGTAACGGTTAGTTTTCTACTTTGTCTTATAGAAGGTAGAAACCATGTGTATGTTATGTTTGTCTATAAAAGAAAAAATACTAATATT AAATAATTTCTTACGACTCTGAGTCACTCACTTATTTTTCCAATAATTGATATTGTACATTCCTAGTGCCATTAGGTATGTATGTATGTA ACTTTTACAGTTTTTCAGCTGAAAGTTGTAAGTATTTTTTTTTTTTGATCGGGGCTCTTTAATCTCATTTTAATTTCCTTTGTTTGAACT GTAGTTATTTTATTTATTCCTATATTAACCATCTAAACCAACTGTAATGACATGTACACTAATACAGAATTGAACATTTGTAGTTGTTGG CAGTGAACCCAGTTGTTGGTGAATTTAAAGCTTAAAATATGGGAATGATTTGCTGCTATATTTCCTTTGAGAGAGAAAGGAGGAAGAAAT AGAACCTAATAGTGATCATGAATTTTAGGGAAAGTACCGAAGAACCATGGGGTCCCCTCTGGTTTCTTGTGTTGAATGAGGCAAGGGTAA TCATCTGATTCCGAGCTGAAGACCTCTGGTCCTCTTAAGGAGGGAGAGTGCATTTTTAGAGCTTTTAGCAAAATGTGAAAAGCTGATGTT TGCGCCTTGCTTTGTGAATTTGGCTTTGTTTTACTTATACATTAACTCATGTAATCTCTTAAATCTTACAAGCATTGATCCATTTCAACA AAAAGGTAAATTTAAAATGCAGACTTTGTTATTTGCCAAAGAAGATTCATGAAAAATTTACGTCCAATTATTTTGCAAATAGTTAATTTC ATTTGGCTTTTTACCATGTTCCTTCCTTTCTTTTTCCCGCTTCCTTAATGTAATTTAAACCCTGGCAAACATTCTTTAGAAACCAAGAGG AAAGAAAGAACAAATATCAAAAAAGACATAGAATTTAATATTGATACAATTTCACCTCTAAAATGGATTTGAAGAAATGCAACTTTATAT CAAAAAATGTCATCTGATTTCCTTTGTTTCTTTTTTAAATTATGTAATCAGATGATTTTATGTTTTTTTTTCAGGGGAGCGGAATATTGG TTTCTTTTACTTGTTGTTTTCAGTTTTCTCTGCCATTCATGTTTCTTTTTTGTGTTCAGTGTTTCAAATACAATTTGTATTTAAGGATTT TAAAATACCAAACTGTAACTGAGTACAGTGGATCGTTTTCTGTTAGGATGTTAATATTATACAATGAAATCTATAAAGTGTTGTCAATTT GATTATTGACACATATAACATGTTTACAAATAAACTGTGGTATTGATCAAGTTACTATGAAAA >37539_37539_5_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000402105_FAM91A1_chr8_124796709_ENST00000334705_length(amino acids)=852AA_BP=248 MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRL RKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTK VEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHVPPLEGFVMNRVQGDYFETLLY KIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEAS SATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQ RYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAI PEVSSVWFKLYIYHVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHV PFPFDETELQGEFTRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDS ATKQTSGATTEADWVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQEGASILDIHTEPSFSSLLS QSSCADMGVPLPAKNLIFKDGVLSEWSGRSPSSLLIANLHLQ -------------------------------------------------------------- >37539_37539_6_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000402105_FAM91A1_chr8_124796709_ENST00000521166_length(transcript)=2747nt_BP=991nt AGACCATGTGGTTGTATAGTTAAGGTTCAGTGTTTCAAATAAGAGCAGTCATTGTGGGCGCCTCGTTTTTTTTTCTAGCTACTCGTGTCT TCTCCGGCAGATGGTCTAACGGCTGGATAGAGGCATATTTTTAGTTTGAATTTCCTGCGCTTACAGAATGGTTTTATCTAATTTGTAGCT ACTGGGGTTCTTTATTCTCTGGGGCCACCTGAAGGCTTTCAAACACAGTAATAAGCCCTCCTCGGGCTGGGAAACAGGAAGCTGTGTTTT AAATGCCGTGATCACTGGATTAAAGGAAACATGGCTCCACTCTGTTCTCTTGCCAGGTGGAATTATTTTTTTCTTTATGATGGTTCCAAG GTAAAGGAAGAAGGCGATCCAACAAGAGCTGGCATTTGTTACTTTTATCCTTCCCAGACCCTGCTAGACCAACAGGAGTTGCTTTGTGGA CAGATTGCTGGAGTTGTCCGCTGTGTTTCTGACATTTCTGACTCTCCTCCTACTCTTGTTCGTCTGAGAAAACTGAAGTTTGCCATAAAA GTTGATGGAGATTACCTTTGGGTGCTGGGCTGTGCTGTGGAGCTCCCTGATGTCAGCTGCAAGCGGTTTCTGGATCAGCTAGTTGGATTC TTTAATTTTTACAATGGACCTGTTTCCCTAGCTTATGAGAACTGTTCTCAGGAAGAACTGAGCACGGAGTGGGACACCTTCATCGAGCAA ATTCTGAAAAACACCAGTGATCTGCATAAGATTTTCAATTCCCTCTGGAACTTGGACCAAACTAAAGTGGAGCCCCTGTTGTTGCTGAAG GCAGCCCGCATTCTGCAGACCTGCCAGCGCTCGCCTCACATTCTCGCTGGCTGCATCCTCTATAAAGGACTGATTGTCAGCACCCAACTC CCGCCCTCCCTCACCGCCAAGGTCCTGCTTCACCGAACAGCACCTCAGGAGCAGAGACTCCCTACGGGAGAGGATGCCCCGCAGGAACAT GTTCCACCTCTTGAAGGTTTTGTAATGAATCGAGTGCAAGGTGATTATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAG CACACAAATGTTGCAGAGCTTGCAAATGTCCTTGAGATTGACTTATCCCTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTT GCCCATAAGAAGGGACAAGTAATTAATTTGGATCAACTTCATTCATCATGGAAGAATGTTCCATCCGTAAACAGATTAAAGAGTACCTTA GATCCACAGAAGATGCTCTTGTCATGGGATGGAGGGGAAAGTAGGAGTCCTGTACAAGAAGCTTCATCGGCAACTGACACTGATACAAAT AGTCAAGAAGATCCAGCTGACACAGCCAGTGTAAGCAGCCTGAGTCTGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCC ACTCTTACTGCCTTCTTAATGATGGGAAATCTTTCACCAAACTTGAAAAGTCATGCAGTCACAATGTTTGAAGTAGGCAAACTCTCAGAT GAGTCTCTGGACAGCTTTCTTATAGAACTAGAAAAGGTTCAGAGCACTGGTGAAGGAGAAGCACAGAGATATTTTGATCATGCACTTACT CTGAGAAACACAATACTGTTTCTGCGTCATAACAAAGATCTAGTTGCGCAAACTGCACAGCCAGACCAACCCAATTATGGTTTTCCTCTG GATCTCTTACGCTGTGAAAGCCTTCTTGGTTTGGACCCTGCAACTTGCAGCAGAGTTCTAAACAAAAATTACACGCTGCTTGTTTCCATG GCTCCCCTCACCAATGAAATCCGGCCTGTCAGCAGCTGCACCCCTCAGCATATTGGACCAGCTATCCCAGAAGTCAGCTCTGTCTGGTTT AAACTGTACATTTATCATGTCACTGGACAAGGACCACCATCCCTTTTATTGTCCAAAGGTACAAGACTTCGAAAACTGCCAGATATATTT CAGAGTTATGATCGATTGCTAATAACATCTTGGGGTCATGATCCTGGAGTAGTTCCTACCTCAAATGTGCTCACGATGTTGAATGATGCT TTAACACATTCTGCAGTTTTAATTCAGGGGCATGGTCTGCATGGGATAGGAGAAACTGTCCATGTCCCATTTCCATTTGATGAAACAGAA CTACAAGGAGAGTTCACTCGTGTCAATATGGGTGTTCATAAAGCATTGCAGATACTAAGGAACAGAGTGGACTTACAGCATCTCTGTGGA TATGTCACCATGTTGAATGCTTCCAGCCAACTTGCAGATAGAAAACTCAGTGATGCTTCTGATGAGAGAGGAGAACCTGATTTGGCTTCT GGCTCAGATGTAAATGGGAGTACAGAGTCATTTGAAATGGTCATTGAGGAAGCAACTATAGATTCAGCAACAAAGCAAACCTCTGGTGCC ACAACAGAAGCAGATTGGGTTCCTCTCGAGCTGTGCTTTGGAATTCCACTGTTCAGTTCCGAATTAAACCGGAAAGTTTGTAGGAAAATT GCTGCACATGGCCTTTGCAGAAAAGAGAGCCTTCAAAACCTCTTACATTCCAGTAGAAAACTCTCTCTGCAAGTCCTTAACTTTGTTCAC TCATTCCAGGTAACAAAAACCAAAAAGTCCAAATGGTACTTGTACTGAGCTTTAAGTATGCACAACACTTCTGTGTTTGTTTTTGAGTCA CCACAGCAGCAAGATATGAAATAAACATTAATTTTATTGTACAAATG >37539_37539_6_HPS4-FAM91A1_HPS4_chr22_26862191_ENST00000402105_FAM91A1_chr8_124796709_ENST00000521166_length(amino acids)=803AA_BP=248 MGNRKLCFKCRDHWIKGNMAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRL RKLKFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQTK VEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHVPPLEGFVMNRVQGDYFETLLY KIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVPSVNRLKSTLDPQKMLLSWDGGESRSPVQEAS SATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSFLIELEKVQSTGEGEAQ RYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPAI PEVSSVWFKLYIYHVTGQGPPSLLLSKGTRLRKLPDIFQSYDRLLITSWGHDPGVVPTSNVLTMLNDALTHSAVLIQGHGLHGIGETVHV PFPFDETELQGEFTRVNMGVHKALQILRNRVDLQHLCGYVTMLNASSQLADRKLSDASDERGEPDLASGSDVNGSTESFEMVIEEATIDS ATKQTSGATTEADWVPLELCFGIPLFSSELNRKVCRKIAAHGLCRKESLQNLLHSSRKLSLQVLNFVHSFQVTKTKKSKWYLY -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for HPS4-FAM91A1 |
| 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 |
Top |
Related Drugs for HPS4-FAM91A1 |
| 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 |
Top |
Related Diseases for HPS4-FAM91A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HPS4 | C3484357 | HERMANSKY-PUDLAK SYNDROME 4 | 3 | GENOMICS_ENGLAND |
| Hgene | HPS4 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | HPS4 | C0024115 | Lung diseases | 1 | GENOMICS_ENGLAND |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies