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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:AHI1-HBS1L (FusionGDB2 ID:HG54806TG10767) |
Fusion Gene Summary for AHI1-HBS1L |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AHI1-HBS1L | Fusion gene ID: hg54806tg10767 | Hgene | Tgene | Gene symbol | AHI1 | HBS1L | Gene ID | 54806 | 10767 |
| Gene name | Abelson helper integration site 1 | HBS1 like translational GTPase | |
| Synonyms | AHI-1|JBTS3|ORF1|dJ71N10.1 | EF-1a|ERFS|HBS1|HSPC276|eRF3c | |
| Cytomap | ('AHI1')('HBS1L') 6q23.3 | 6q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | HBS1-like proteinERF3-similar proteinHsp70 subfamily B suppressor 1-like proteineRF3 family member | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8N157 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000327035, ENST00000367800, ENST00000417892, ENST00000457866, ENST00000367798, ENST00000488690, ENST00000528103, ENST00000531527, ENST00000534469, | ENST00000327035, ENST00000367798, ENST00000417892, ENST00000488690, ENST00000528103, ENST00000531527, ENST00000534469, ENST00000367800, ENST00000457866, | |
| Fusion gene scores | * DoF score | 10 X 11 X 6=660 | 7 X 7 X 3=147 |
| # samples | 10 | 8 | |
| ** MAII score | log2(10/660*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AHI1 [Title/Abstract] AND HBS1L [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | AHI1(135715914)-HBS1L(135287611), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | AHI1-HBS1L seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AHI1-HBS1L seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AHI1-HBS1L seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. AHI1-HBS1L seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. AHI1-HBS1L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AHI1-HBS1L seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. HBS1L-AHI1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. HBS1L-AHI1 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 |
| Fusion gene breakpoints across AHI1 (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 HBS1L (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 * 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 | PAAD | TCGA-IB-A7LX-01A | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| ChimerDB4 | PAAD | TCGA-IB-A7LX | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
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Fusion Gene ORF analysis for AHI1-HBS1L |
| 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 | ENST00000327035 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000327035 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000327035 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000327035 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000367800 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000367800 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000367800 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000367800 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000417892 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000417892 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000417892 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000417892 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000457866 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000457866 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000457866 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 5CDS-intron | ENST00000457866 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000327035 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000327035 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000327035 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000327035 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000327035 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000327035 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000457866 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000457866 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000457866 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000457866 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000457866 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| Frame-shift | ENST00000457866 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000367800 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000367800 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000367800 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000367800 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000367800 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000367800 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000417892 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000417892 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000417892 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000417892 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000417892 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| In-frame | ENST00000417892 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000367798 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000367798 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000367798 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000367798 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000367798 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000367798 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000488690 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000488690 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000488690 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000488690 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000488690 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000488690 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000528103 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000528103 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000528103 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000528103 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000528103 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000528103 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000531527 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000531527 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000531527 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000531527 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000531527 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000531527 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000534469 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000534469 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000534469 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000534469 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000534469 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-3CDS | ENST00000534469 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000367798 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000367798 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000367798 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000367798 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000488690 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000488690 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000488690 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000488690 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000528103 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000528103 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000528103 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000528103 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000531527 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000531527 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000531527 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000531527 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000534469 | ENST00000314674 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000534469 | ENST00000367820 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000534469 | ENST00000367822 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| intron-intron | ENST00000534469 | ENST00000525067 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - |
| 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) |
| ENST00000367800 | AHI1 | chr6 | 135715914 | - | ENST00000367837 | HBS1L | chr6 | 135287611 | - | 8384 | 3326 | 217 | 3333 | 1038 |
| ENST00000367800 | AHI1 | chr6 | 135715914 | - | ENST00000527578 | HBS1L | chr6 | 135287611 | - | 4133 | 3326 | 217 | 3333 | 1038 |
| ENST00000367800 | AHI1 | chr6 | 135715914 | - | ENST00000415177 | HBS1L | chr6 | 135287611 | - | 4131 | 3326 | 217 | 3333 | 1038 |
| ENST00000367800 | AHI1 | chr6 | 135715914 | - | ENST00000367826 | HBS1L | chr6 | 135287611 | - | 4129 | 3326 | 217 | 3333 | 1038 |
| ENST00000367800 | AHI1 | chr6 | 135715914 | - | ENST00000367824 | HBS1L | chr6 | 135287611 | - | 3920 | 3326 | 217 | 3333 | 1038 |
| ENST00000367800 | AHI1 | chr6 | 135715914 | - | ENST00000445176 | HBS1L | chr6 | 135287611 | - | 3598 | 3326 | 217 | 3333 | 1038 |
| ENST00000417892 | AHI1 | chr6 | 135715914 | - | ENST00000367837 | HBS1L | chr6 | 135287611 | - | 6359 | 1301 | 130 | 1308 | 392 |
| ENST00000417892 | AHI1 | chr6 | 135715914 | - | ENST00000527578 | HBS1L | chr6 | 135287611 | - | 2108 | 1301 | 130 | 1308 | 392 |
| ENST00000417892 | AHI1 | chr6 | 135715914 | - | ENST00000415177 | HBS1L | chr6 | 135287611 | - | 2106 | 1301 | 130 | 1308 | 392 |
| ENST00000417892 | AHI1 | chr6 | 135715914 | - | ENST00000367826 | HBS1L | chr6 | 135287611 | - | 2104 | 1301 | 130 | 1308 | 392 |
| ENST00000417892 | AHI1 | chr6 | 135715914 | - | ENST00000367824 | HBS1L | chr6 | 135287611 | - | 1895 | 1301 | 130 | 1308 | 392 |
| ENST00000417892 | AHI1 | chr6 | 135715914 | - | ENST00000445176 | HBS1L | chr6 | 135287611 | - | 1573 | 1301 | 130 | 1308 | 392 |
| 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 |
| ENST00000367800 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 4.40E-05 | 0.999956 |
| ENST00000367800 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 7.87E-05 | 0.9999213 |
| ENST00000367800 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 7.97E-05 | 0.99992025 |
| ENST00000367800 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 8.06E-05 | 0.9999194 |
| ENST00000367800 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000100437 | 0.9998995 |
| ENST00000367800 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000101304 | 0.9998987 |
| ENST00000417892 | ENST00000367837 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 9.69E-05 | 0.9999031 |
| ENST00000417892 | ENST00000527578 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000139965 | 0.99986005 |
| ENST00000417892 | ENST00000415177 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000142971 | 0.99985695 |
| ENST00000417892 | ENST00000367826 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000146016 | 0.99985397 |
| ENST00000417892 | ENST00000367824 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000223504 | 0.99977654 |
| ENST00000417892 | ENST00000445176 | AHI1 | chr6 | 135715914 | - | HBS1L | chr6 | 135287611 | - | 0.000282565 | 0.9997174 |
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Fusion Genomic Features for AHI1-HBS1L |
| 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) |
| 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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Fusion Protein Features for AHI1-HBS1L |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:135715914/chr6:135287611) - 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 |
| AHI1 | . |
| FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}. | 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 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 13_45 | 1036 | 1054.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 13_45 | 1036 | 1197.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 13_45 | 1036 | 1197.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 234_239 | 1036 | 1054.0 | Compositional bias | Note=Poly-Lys |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 234_239 | 1036 | 1197.0 | Compositional bias | Note=Poly-Lys |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 234_239 | 1036 | 1197.0 | Compositional bias | Note=Poly-Lys |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 607_649 | 1036 | 1054.0 | Repeat | Note=WD 1 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 652_691 | 1036 | 1054.0 | Repeat | Note=WD 2 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 695_735 | 1036 | 1054.0 | Repeat | Note=WD 3 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 742_781 | 1036 | 1054.0 | Repeat | Note=WD 4 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 797_837 | 1036 | 1054.0 | Repeat | Note=WD 5 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 841_880 | 1036 | 1054.0 | Repeat | Note=WD 6 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 885_926 | 1036 | 1054.0 | Repeat | Note=WD 7 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 607_649 | 1036 | 1197.0 | Repeat | Note=WD 1 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 652_691 | 1036 | 1197.0 | Repeat | Note=WD 2 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 695_735 | 1036 | 1197.0 | Repeat | Note=WD 3 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 742_781 | 1036 | 1197.0 | Repeat | Note=WD 4 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 797_837 | 1036 | 1197.0 | Repeat | Note=WD 5 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 841_880 | 1036 | 1197.0 | Repeat | Note=WD 6 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 885_926 | 1036 | 1197.0 | Repeat | Note=WD 7 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 607_649 | 1036 | 1197.0 | Repeat | Note=WD 1 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 652_691 | 1036 | 1197.0 | Repeat | Note=WD 2 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 695_735 | 1036 | 1197.0 | Repeat | Note=WD 3 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 742_781 | 1036 | 1197.0 | Repeat | Note=WD 4 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 797_837 | 1036 | 1197.0 | Repeat | Note=WD 5 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 841_880 | 1036 | 1197.0 | Repeat | Note=WD 6 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 885_926 | 1036 | 1197.0 | Repeat | Note=WD 7 |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 258_482 | 0 | 633.0 | Domain | tr-type G | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 344_348 | 0 | 633.0 | Nucleotide binding | GTP | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 267_274 | 0 | 633.0 | Region | G1 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 323_327 | 0 | 633.0 | Region | G2 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 344_347 | 0 | 633.0 | Region | G3 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 406_409 | 0 | 633.0 | Region | G4 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367822 | 0 | 5 | 445_447 | 0 | 633.0 | Region | G5 |
| - 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 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 1051_1111 | 1036 | 1054.0 | Domain | SH3 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 1051_1111 | 1036 | 1197.0 | Domain | SH3 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 1051_1111 | 1036 | 1197.0 | Domain | SH3 |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 258_482 | 590 | 643.0 | Domain | tr-type G | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 258_482 | 632 | 685.0 | Domain | tr-type G | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 344_348 | 590 | 643.0 | Nucleotide binding | GTP | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 344_348 | 632 | 685.0 | Nucleotide binding | GTP | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 267_274 | 590 | 643.0 | Region | G1 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 323_327 | 590 | 643.0 | Region | G2 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 344_347 | 590 | 643.0 | Region | G3 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 406_409 | 590 | 643.0 | Region | G4 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367826 | 14 | 17 | 445_447 | 590 | 643.0 | Region | G5 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 267_274 | 632 | 685.0 | Region | G1 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 323_327 | 632 | 685.0 | Region | G2 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 344_347 | 632 | 685.0 | Region | G3 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 406_409 | 632 | 685.0 | Region | G4 | |
| Tgene | HBS1L | chr6:135715914 | chr6:135287611 | ENST00000367837 | 15 | 18 | 445_447 | 632 | 685.0 | Region | G5 |
Top |
Fusion Gene Sequence for AHI1-HBS1L |
| 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. |
| >3094_3094_1_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000367824_length(transcript)=3920nt_BP=3326nt GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCGATCCTGATTGAGTCAA TGCTTTGCATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGA ATTGCTTAAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACAC TATTAGAAGCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTAC AAGTGATGATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAAC TGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTAC ACAAGACCTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCA GAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGA AGAAATGGCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGA CAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACAC AGTTGAAGGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAG CACAGAAGACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGT TGATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTA CATTCACCGAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATA TGTCAAGAAAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATA TGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGA TGAGAGTCCTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGA ATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCT ATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATC AACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGG TAAACCAGTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAA ACGACTCCCTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTC CCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAG AGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGC CAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGC TGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCG ACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGAT TGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTT TAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGA TCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCT GTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTC ACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTA CGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGC CCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCT AGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGC AGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTT TTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGACCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGG TTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTCACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTG GATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTAAGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAG AAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCACCTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATG TTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTTTGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACT GAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTATTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAA >3094_3094_1_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000367824_length(amino acids)=1038AA_BP= MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI -------------------------------------------------------------- >3094_3094_2_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000367826_length(transcript)=4129nt_BP=3326nt GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCGATCCTGATTGAGTCAA TGCTTTGCATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGA ATTGCTTAAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACAC TATTAGAAGCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTAC AAGTGATGATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAAC TGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTAC ACAAGACCTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCA GAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGA AGAAATGGCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGA CAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACAC AGTTGAAGGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAG CACAGAAGACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGT TGATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTA CATTCACCGAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATA TGTCAAGAAAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATA TGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGA TGAGAGTCCTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGA ATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCT ATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATC AACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGG TAAACCAGTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAA ACGACTCCCTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTC CCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAG AGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGC CAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGC TGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCG ACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGAT TGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTT TAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGA TCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCT GTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTC ACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTA CGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGC CCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCT AGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGC AGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTT TTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGACCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGG TTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTCACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTG GATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTAAGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAG AAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCACCTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATG TTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTTTGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACT GAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTATTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAA GGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACCTAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGA TTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAATGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAAT >3094_3094_2_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000367826_length(amino acids)=1038AA_BP= MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI -------------------------------------------------------------- >3094_3094_3_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000367837_length(transcript)=8384nt_BP=3326nt GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCGATCCTGATTGAGTCAA TGCTTTGCATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGA ATTGCTTAAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACAC TATTAGAAGCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTAC AAGTGATGATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAAC TGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTAC ACAAGACCTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCA GAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGA AGAAATGGCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGA CAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACAC AGTTGAAGGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAG CACAGAAGACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGT TGATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTA CATTCACCGAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATA TGTCAAGAAAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATA TGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGA TGAGAGTCCTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGA ATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCT ATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATC AACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGG TAAACCAGTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAA ACGACTCCCTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTC CCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAG AGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGC CAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGC TGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCG ACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGAT TGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTT TAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGA TCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCT GTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTC ACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTA CGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGC CCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCT AGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGC AGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTT TTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGACCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGG TTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTCACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTG GATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTAAGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAG AAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCACCTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATG TTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTTTGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACT GAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTATTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAA GGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACCTAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGA TTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAATGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAAT TAGTGGAAGCTGTTCCTTTGAAAGCCAAGATATTATTTAAGTTGTAAAGCCAGCTAATAAAATGCCTTAGTTTGAGCATAATACAAACTG TGTTTTGTTCTTTAGACATTTATGAGATTCTCTGCCACTAACAGTAAATATGATTTAGGGGTTTTGTGGGATCTTTTTCACCTAAGAGTT TCCTAGCTCTGTCACATGAATTCTTTTTTATCCTAATGGCAGATCCAATTTCATCTCATTCATTTTTTTAACCATAACTTGCTTTTCCCA TTCTCACTTTTAGAATTATACCTATGATGGCCCTTTCTTTATCTTGCTTACCTTATAGATTATAAGTCCCCTGTGAGTAAGTAAGAGTCA TGTTTTTCTTTAAAGTTTCAACAACAAACCCCAAGGTTTATTTATTTAACAACAGGTATTCGTTGAGGTGCCTTCTGGGTGCAAGGAGCT TTAGAGTAGATTTTGACCTCAGCTGAACCTGGAACTCTGATCTGATAGACTGTTTATGATAAGCTTTTTTTTTTATTAGCAGCGTGATTT GTATATCGATGGCTTAACATATACAACAGCATTTCTTCTCCCTGCACCTTTTCGTGAACCTGACATTTTGAACATAAGCAATAACATCTG TATGGTAAAGTAGGCAGATTATACATGTGTTGCTTAGTGAATGATTACCAAGTGAACACACTTGGTATATTGCTTTACCAAAATACATGT GTAGTTGTCACTTCAGATTCACTGAGTTAAGAAAGTTTTATTTAAATATTAATATTAATCAAGAATTTAACAGATATATGTGACAGAAAT CTAACTTCAAGTGACTGAAGCAGAAAGAAAAATTTTTGAATGACATAACTGAGAAAATTAGAGGTAGCTCTAGCTTTGATTCCATTTAGA TCGAGCAGCTCACACAATGTTAGCAAGGACTCATCTCCACTCTGCCTTCCCTGGTGCTGGTTTTGCTCTCAAACTCTATATAGAACTCTC GGCCGGGCGCGGTGGCTCACACCTGTAATCAAAACACTTTGGGAGGCTGAGTCGGGAGGATAGCGTGAGCCCAGGAGTTTGAGACCAGCT AAGGCAATATAGTGAGACCATGTCTCTACAGAAAAAATTTAAAAACAGATCAGCTGGGTGTGGTGCCACATGCCTGTAGTCCCAGCTTCT CAGGAGGCTGGGGTGGGAAGATCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCCATGATCACATCACTGCAGTCCAGCCTGGGTGAC AGAGCAAGACCTGTCACCCTGCCACCCATAAAAAACCTCTTCTGTAATGCCAGGTTCTTGACAAGATGTGATAATTCCACACTTACATCC TCAGATCTCCCATCCAGGGCAAGGACAGACTAAAAGAGCATATCTTCTCCAGAAGTCCTAGAAACATCTCATCATTGACTATGATTGAAT TTTATTTATTAATACTTCCCTAGGATATCCTGTGTTTGAGTGTGAAGTTAATATCACACAAAGCATGTAGCTAACAGTTGTGTGAGGGTT GGAAATTCAGGGTGCTGTTAGGAAGGGGAAATGGATTGGGGTTTAAGGTAGGGGGAGTAAAAACAAGAAACCATCCACTCTGTATATTAT ATAAGACTGTGATCGAATTAAGAATTTTAGTTTACAGTTTAGCATAAACAAATAGTAGTAGAAATGAATGCATTTATTCATTCCTTCCTT CTCCAATAGTGTTTAAGTACAATCTTTTTATTTGCATTTTATTGATGATTGATTGTGGTTGAAAGGAGTGGTGATATTATTTCGAGGATC CACTGTGTAAGAAGACTGTTGGCAGTGGAAGGCTCGAGTTGATTAAGTGACAAAGAGGTAAAGCAGACATGCCCAAGCTTGGTTATGCTC TGATTTCCTACCCTGTTACTTTCATCCATAATTTATAGTACATCCATTTTGTGTCATTTTGCTTCAGGTATTTCTTGTCCTGACTGTCTT CTTTTTTATGATTTTACTGTTTCTTCACACTAATGGCTTTGTCCTCTGACTTTGACTCTTTGTGAGATTCTTCTGAGCAGTTAACCTCTA GGATAATGTGGCTTGAACACATTACAGAACTATGTTTTGACTTGTTAGTATTATTCACACATTCATGACAATTGAGCCTCTCTACTGTGA GAAATGTTTTAGAGGCCAGTTTCTAGGCATAGCTGTTTTTCTCCCATGAGTATGCAAATCAATAGTTTTAACCATTGTTAAAATGCAATC ATAGTGACTTCAGAAAATTTGGAAAATACAGAAAATATAGGGAAGAATAAAATTAACCCACAGTTCTGTCACCTAAAGGTAACTGCTGCC AATGTTTTCATGTATTTCTTTTCTGTCTCTCCAATGCATTTTTTTACATAGTTGTGAGCGTTAGCCAAGTTATTTTCATGTTGTTATGTA ATCAATATTTTTCAATAGAAGTATTAGAGGTTTTTTTTATTGATATAAAAATAACAATTACAGATCCTGATATATAGAAGTTATTCAAAA TTATACAGTTTTCAAAAAATCAAGACAAGTAGGCCCAATACAAACTACTGAATCATCTTCTAATTTCCCTCTAAAATATTTATAGAAATA TGTAAGTAGAAAAACATTCATCCTTTCCTCGTCTAATTATGATCCTGCCATATTCCAGGCACAAGAGAAAGCTCTGGGGCTTGAGTCTTA ATAGGGCTGATAGTCCAACCAGGGGACAGGGTATCATAAAGAGATAATTCAAAACTTTAAGATTGGAGGGTAGGTGATGGTAGAAAATTC TGCGGCAAACATTTGTTGATGCTCATCATTTGTTGATGTCATCAAAGATCACCAGGGCATAATTATAATCAAAATTAGTTTTATTGATGC TTGCTGCAGCAAGAGAGACTGCACACCACTGGGGTCTATGGGTGCTTCTCAGTGGGAAGGTGTAAGGAGGGGCTTGCTAAGAATTTGAGC ACATGTAGCTAATTTTAAGGAGGGCTCAAGTGAGCAAGGGTTTCTTCTGGATTGAGTGCTGTCAGAAAGTGGATTGAGTGCTGTCAGAAA GTGGGAGTGATTTTGCAACTGGGTATCTTAATTTTTATGTTGTGGGTGGGAGGAAAGGAAAGAAGCAACAGTCACCCATGTTAGCCACAA GAAGAGGTTGGCTGTTTATGGTTTGCACAGTGACTTTGTTTTTATCTGTGCTCAGGCATGATTACAGTATCTCATTTTATCCGGATTACA GTGACCTCATCTGATGTTAGAGATTTGAGAATTGTTAAATGTTCAGCAGGAGAACGCCACCGCCTAGTGTGAATGCTAGGTCAGAAGCTG CTTTTTCACACTGAAACCATTTAAGTATGTACAAATAAGTTAATAGTGTAAATGTAGGTGTAAAATACAATGCAAAACAAAATAATGAAG TAAGTGAATTAAATTATTGCACCAAATATGGGGATATGAAATAGGGAAAGAAAAGCATTAAGTTACTTATAGTCCATAAAGGGACTACAT TATTTTGTTACTCTGATAATCCCATAAAACAAAGTTTTAAGAATGTTTACAGTAACCATGAATGGAATTAGTGAAACTATTCATATCAAT GCAAAAAAAAAAAAAAAAAAAGCAAAGAAACTAAGTCTGTACAGCAAAAGATGGAAAGGAAACAAGAAAATTAAATGAAGACAAAGGTTG TGATTATTACAGTAAATGAAAATAGGTTTTTATCTTTAAAATGTAGACTCAAACTGCAAAGCTAATGATATGCTATCTGCAAAATATTCC TATTTTGTAAATAAATAAAACCATAGATTTAAAGAAGAAAGGGCACAGATGTACTGGGGAGACAAAAATAACTGATCCGTTGGGTGTATA CCATGTGCCAAGCAATTTTCATATACTCATTTAACATGACATATCTATAATTATATGAGGCAGATATTATTAACCTCAGTCTATAGATGA GAAGACTAAAGCTCAGAGGGATTGCTAAAAACTAGTAAATAAATTATGGAACCATGATTTGAATTTAGATTTAAGTCTGACTGAGGCATG TTCAGAGACACTACACTGCCTCTCCAGAAATCAGGAGTAGCAATATTAACACTGGACAAAGAATTTAAAGCAAGTAAAAAAAAATTAAGA GAATTTCATATTAATAACAAGTATAATGCACAATAAAACTGTACCAAATGACATAAAAATGCATAATGAAATTTATTAGAAATTAAAAAT TAAAGGGCATAGTTACAATTATTGAGGAATTCTCATAGCTCTGCCTTATAGATCATGTAAACAAACAAGGTCATAGAGGACTTAAATAGC >3094_3094_3_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000367837_length(amino acids)=1038AA_BP= MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI -------------------------------------------------------------- >3094_3094_4_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000415177_length(transcript)=4131nt_BP=3326nt GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCGATCCTGATTGAGTCAA TGCTTTGCATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGA ATTGCTTAAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACAC TATTAGAAGCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTAC AAGTGATGATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAAC TGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTAC ACAAGACCTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCA GAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGA AGAAATGGCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGA CAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACAC AGTTGAAGGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAG CACAGAAGACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGT TGATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTA CATTCACCGAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATA TGTCAAGAAAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATA TGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGA TGAGAGTCCTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGA ATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCT ATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATC AACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGG TAAACCAGTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAA ACGACTCCCTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTC CCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAG AGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGC CAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGC TGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCG ACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGAT TGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTT TAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGA TCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCT GTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTC ACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTA CGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGC CCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCT AGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGC AGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTT TTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGACCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGG TTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTCACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTG GATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTAAGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAG AAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCACCTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATG TTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTTTGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACT GAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTATTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAA GGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACCTAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGA TTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAATGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAAT >3094_3094_4_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000415177_length(amino acids)=1038AA_BP= MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI -------------------------------------------------------------- >3094_3094_5_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000445176_length(transcript)=3598nt_BP=3326nt GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCGATCCTGATTGAGTCAA TGCTTTGCATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGA ATTGCTTAAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACAC TATTAGAAGCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTAC AAGTGATGATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAAC TGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTAC ACAAGACCTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCA GAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGA AGAAATGGCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGA CAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACAC AGTTGAAGGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAG CACAGAAGACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGT TGATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTA CATTCACCGAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATA TGTCAAGAAAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATA TGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGA TGAGAGTCCTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGA ATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCT ATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATC AACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGG TAAACCAGTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAA ACGACTCCCTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTC CCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAG AGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGC CAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGC TGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCG ACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGAT TGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTT TAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGA TCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCT GTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTC ACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTA CGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGC CCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCT AGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGC AGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTT TTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGACCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGG TTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTCACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTG >3094_3094_5_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000445176_length(amino acids)=1038AA_BP= MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI -------------------------------------------------------------- >3094_3094_6_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000527578_length(transcript)=4133nt_BP=3326nt GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCGATCCTGATTGAGTCAA TGCTTTGCATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGA ATTGCTTAAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACAC TATTAGAAGCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTAC AAGTGATGATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAAC TGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTAC ACAAGACCTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCA GAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGA AGAAATGGCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGA CAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACAC AGTTGAAGGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAG CACAGAAGACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGT TGATGGTGATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTA CATTCACCGAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATA TGTCAAGAAAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATA TGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGA TGAGAGTCCTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGA ATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCT ATATTACCCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATC AACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGG TAAACCAGTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAA ACGACTCCCTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTC CCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAG AGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGC CAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGC TGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCG ACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGAT TGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTT TAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGA TCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCT GTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTC ACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTA CGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGC CCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCT AGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTGTGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGC AGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTT TTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGACCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGG TTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTCACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTG GATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTAAGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAG AAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCACCTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATG TTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTTTGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACT GAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTATTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAA GGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACCTAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGA TTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAATGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAAT >3094_3094_6_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000367800_HBS1L_chr6_135287611_ENST00000527578_length(amino acids)=1038AA_BP= MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN MVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVI -------------------------------------------------------------- >3094_3094_7_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000367824_length(transcript)=1895nt_BP=1301nt CTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGG ATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTC AAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGT TTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACG GATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGA TACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTC AGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAA ACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTA TCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGA AACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGC ATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTA CAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGAT TGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTG TGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGAC CGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTTTTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGA CCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGGTTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTC ACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTGGATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTA AGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAGAAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCAC CTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATGTTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTT TGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACTGAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTA TTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAAGGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACC >3094_3094_7_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000367824_length(amino acids)=392AA_BP= MRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAIL VRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRI MDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY IYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSP -------------------------------------------------------------- >3094_3094_8_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000367826_length(transcript)=2104nt_BP=1301nt CTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGG ATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTC AAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGT TTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACG GATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGA TACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTC AGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAA ACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTA TCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGA AACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGC ATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTA CAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGAT TGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTG TGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGAC CGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTTTTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGA CCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGGTTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTC ACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTGGATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTA AGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAGAAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCAC CTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATGTTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTT TGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACTGAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTA TTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAAGGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACC TAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGATTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAA TGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAATTAGTGGAAGCTGTTCCTTTGAAAGCCAAGATATTATTTAAGTTGT >3094_3094_8_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000367826_length(amino acids)=392AA_BP= MRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAIL VRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRI MDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY IYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSP -------------------------------------------------------------- >3094_3094_9_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000367837_length(transcript)=6359nt_BP=1301nt CTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGG ATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTC AAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGT TTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACG GATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGA TACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTC AGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAA ACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTA TCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGA AACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGC ATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTA CAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGAT TGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTG TGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGAC CGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTTTTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGA CCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGGTTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTC ACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTGGATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTA AGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAGAAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCAC CTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATGTTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTT TGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACTGAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTA TTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAAGGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACC TAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGATTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAA TGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAATTAGTGGAAGCTGTTCCTTTGAAAGCCAAGATATTATTTAAGTTGT AAAGCCAGCTAATAAAATGCCTTAGTTTGAGCATAATACAAACTGTGTTTTGTTCTTTAGACATTTATGAGATTCTCTGCCACTAACAGT AAATATGATTTAGGGGTTTTGTGGGATCTTTTTCACCTAAGAGTTTCCTAGCTCTGTCACATGAATTCTTTTTTATCCTAATGGCAGATC CAATTTCATCTCATTCATTTTTTTAACCATAACTTGCTTTTCCCATTCTCACTTTTAGAATTATACCTATGATGGCCCTTTCTTTATCTT GCTTACCTTATAGATTATAAGTCCCCTGTGAGTAAGTAAGAGTCATGTTTTTCTTTAAAGTTTCAACAACAAACCCCAAGGTTTATTTAT TTAACAACAGGTATTCGTTGAGGTGCCTTCTGGGTGCAAGGAGCTTTAGAGTAGATTTTGACCTCAGCTGAACCTGGAACTCTGATCTGA TAGACTGTTTATGATAAGCTTTTTTTTTTATTAGCAGCGTGATTTGTATATCGATGGCTTAACATATACAACAGCATTTCTTCTCCCTGC ACCTTTTCGTGAACCTGACATTTTGAACATAAGCAATAACATCTGTATGGTAAAGTAGGCAGATTATACATGTGTTGCTTAGTGAATGAT TACCAAGTGAACACACTTGGTATATTGCTTTACCAAAATACATGTGTAGTTGTCACTTCAGATTCACTGAGTTAAGAAAGTTTTATTTAA ATATTAATATTAATCAAGAATTTAACAGATATATGTGACAGAAATCTAACTTCAAGTGACTGAAGCAGAAAGAAAAATTTTTGAATGACA TAACTGAGAAAATTAGAGGTAGCTCTAGCTTTGATTCCATTTAGATCGAGCAGCTCACACAATGTTAGCAAGGACTCATCTCCACTCTGC CTTCCCTGGTGCTGGTTTTGCTCTCAAACTCTATATAGAACTCTCGGCCGGGCGCGGTGGCTCACACCTGTAATCAAAACACTTTGGGAG GCTGAGTCGGGAGGATAGCGTGAGCCCAGGAGTTTGAGACCAGCTAAGGCAATATAGTGAGACCATGTCTCTACAGAAAAAATTTAAAAA CAGATCAGCTGGGTGTGGTGCCACATGCCTGTAGTCCCAGCTTCTCAGGAGGCTGGGGTGGGAAGATCACTTGAGCCCAGGAGGTCGAGG CTGCAGTGAGCCATGATCACATCACTGCAGTCCAGCCTGGGTGACAGAGCAAGACCTGTCACCCTGCCACCCATAAAAAACCTCTTCTGT AATGCCAGGTTCTTGACAAGATGTGATAATTCCACACTTACATCCTCAGATCTCCCATCCAGGGCAAGGACAGACTAAAAGAGCATATCT TCTCCAGAAGTCCTAGAAACATCTCATCATTGACTATGATTGAATTTTATTTATTAATACTTCCCTAGGATATCCTGTGTTTGAGTGTGA AGTTAATATCACACAAAGCATGTAGCTAACAGTTGTGTGAGGGTTGGAAATTCAGGGTGCTGTTAGGAAGGGGAAATGGATTGGGGTTTA AGGTAGGGGGAGTAAAAACAAGAAACCATCCACTCTGTATATTATATAAGACTGTGATCGAATTAAGAATTTTAGTTTACAGTTTAGCAT AAACAAATAGTAGTAGAAATGAATGCATTTATTCATTCCTTCCTTCTCCAATAGTGTTTAAGTACAATCTTTTTATTTGCATTTTATTGA TGATTGATTGTGGTTGAAAGGAGTGGTGATATTATTTCGAGGATCCACTGTGTAAGAAGACTGTTGGCAGTGGAAGGCTCGAGTTGATTA AGTGACAAAGAGGTAAAGCAGACATGCCCAAGCTTGGTTATGCTCTGATTTCCTACCCTGTTACTTTCATCCATAATTTATAGTACATCC ATTTTGTGTCATTTTGCTTCAGGTATTTCTTGTCCTGACTGTCTTCTTTTTTATGATTTTACTGTTTCTTCACACTAATGGCTTTGTCCT CTGACTTTGACTCTTTGTGAGATTCTTCTGAGCAGTTAACCTCTAGGATAATGTGGCTTGAACACATTACAGAACTATGTTTTGACTTGT TAGTATTATTCACACATTCATGACAATTGAGCCTCTCTACTGTGAGAAATGTTTTAGAGGCCAGTTTCTAGGCATAGCTGTTTTTCTCCC ATGAGTATGCAAATCAATAGTTTTAACCATTGTTAAAATGCAATCATAGTGACTTCAGAAAATTTGGAAAATACAGAAAATATAGGGAAG AATAAAATTAACCCACAGTTCTGTCACCTAAAGGTAACTGCTGCCAATGTTTTCATGTATTTCTTTTCTGTCTCTCCAATGCATTTTTTT ACATAGTTGTGAGCGTTAGCCAAGTTATTTTCATGTTGTTATGTAATCAATATTTTTCAATAGAAGTATTAGAGGTTTTTTTTATTGATA TAAAAATAACAATTACAGATCCTGATATATAGAAGTTATTCAAAATTATACAGTTTTCAAAAAATCAAGACAAGTAGGCCCAATACAAAC TACTGAATCATCTTCTAATTTCCCTCTAAAATATTTATAGAAATATGTAAGTAGAAAAACATTCATCCTTTCCTCGTCTAATTATGATCC TGCCATATTCCAGGCACAAGAGAAAGCTCTGGGGCTTGAGTCTTAATAGGGCTGATAGTCCAACCAGGGGACAGGGTATCATAAAGAGAT AATTCAAAACTTTAAGATTGGAGGGTAGGTGATGGTAGAAAATTCTGCGGCAAACATTTGTTGATGCTCATCATTTGTTGATGTCATCAA AGATCACCAGGGCATAATTATAATCAAAATTAGTTTTATTGATGCTTGCTGCAGCAAGAGAGACTGCACACCACTGGGGTCTATGGGTGC TTCTCAGTGGGAAGGTGTAAGGAGGGGCTTGCTAAGAATTTGAGCACATGTAGCTAATTTTAAGGAGGGCTCAAGTGAGCAAGGGTTTCT TCTGGATTGAGTGCTGTCAGAAAGTGGATTGAGTGCTGTCAGAAAGTGGGAGTGATTTTGCAACTGGGTATCTTAATTTTTATGTTGTGG GTGGGAGGAAAGGAAAGAAGCAACAGTCACCCATGTTAGCCACAAGAAGAGGTTGGCTGTTTATGGTTTGCACAGTGACTTTGTTTTTAT CTGTGCTCAGGCATGATTACAGTATCTCATTTTATCCGGATTACAGTGACCTCATCTGATGTTAGAGATTTGAGAATTGTTAAATGTTCA GCAGGAGAACGCCACCGCCTAGTGTGAATGCTAGGTCAGAAGCTGCTTTTTCACACTGAAACCATTTAAGTATGTACAAATAAGTTAATA GTGTAAATGTAGGTGTAAAATACAATGCAAAACAAAATAATGAAGTAAGTGAATTAAATTATTGCACCAAATATGGGGATATGAAATAGG GAAAGAAAAGCATTAAGTTACTTATAGTCCATAAAGGGACTACATTATTTTGTTACTCTGATAATCCCATAAAACAAAGTTTTAAGAATG TTTACAGTAACCATGAATGGAATTAGTGAAACTATTCATATCAATGCAAAAAAAAAAAAAAAAAAAGCAAAGAAACTAAGTCTGTACAGC AAAAGATGGAAAGGAAACAAGAAAATTAAATGAAGACAAAGGTTGTGATTATTACAGTAAATGAAAATAGGTTTTTATCTTTAAAATGTA GACTCAAACTGCAAAGCTAATGATATGCTATCTGCAAAATATTCCTATTTTGTAAATAAATAAAACCATAGATTTAAAGAAGAAAGGGCA CAGATGTACTGGGGAGACAAAAATAACTGATCCGTTGGGTGTATACCATGTGCCAAGCAATTTTCATATACTCATTTAACATGACATATC TATAATTATATGAGGCAGATATTATTAACCTCAGTCTATAGATGAGAAGACTAAAGCTCAGAGGGATTGCTAAAAACTAGTAAATAAATT ATGGAACCATGATTTGAATTTAGATTTAAGTCTGACTGAGGCATGTTCAGAGACACTACACTGCCTCTCCAGAAATCAGGAGTAGCAATA TTAACACTGGACAAAGAATTTAAAGCAAGTAAAAAAAAATTAAGAGAATTTCATATTAATAACAAGTATAATGCACAATAAAACTGTACC AAATGACATAAAAATGCATAATGAAATTTATTAGAAATTAAAAATTAAAGGGCATAGTTACAATTATTGAGGAATTCTCATAGCTCTGCC >3094_3094_9_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000367837_length(amino acids)=392AA_BP= MRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAIL VRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRI MDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY IYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSP -------------------------------------------------------------- >3094_3094_10_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000415177_length(transcript)=2106nt_BP=1301nt CTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGG ATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTC AAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGT TTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACG GATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGA TACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTC AGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAA ACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTA TCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGA AACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGC ATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTA CAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGAT TGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTG TGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGAC CGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTTTTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGA CCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGGTTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTC ACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTGGATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTA AGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAGAAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCAC CTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATGTTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTT TGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACTGAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTA TTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAAGGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACC TAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGATTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAA TGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAATTAGTGGAAGCTGTTCCTTTGAAAGCCAAGATATTATTTAAGTTGT >3094_3094_10_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000415177_length(amino acids)=392AA_BP= MRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAIL VRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRI MDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY IYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSP -------------------------------------------------------------- >3094_3094_11_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000445176_length(transcript)=1573nt_BP=1301nt CTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGG ATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTC AAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGT TTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACG GATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGA TACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTC AGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAA ACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTA TCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGA AACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGC ATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTA CAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGAT TGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTG TGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGAC CGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTTTTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGA CCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGGTTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTC ACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTGGATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTA >3094_3094_11_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000445176_length(amino acids)=392AA_BP= MRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAIL VRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRI MDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY IYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSP -------------------------------------------------------------- >3094_3094_12_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000527578_length(transcript)=2108nt_BP=1301nt CTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGG ATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTTTCCTGGTC AAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAATACAAATACTTTCAGAGT TTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCCATGATACG GATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGA TACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTGGAACATTC AGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAA ACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTA TCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGA AACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAATATGGTTGC ATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGTTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTA CAATGGAACATTTCCATTACCTGGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCTTTTCAGAT TGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAACAGAGGCTTGAAACTGTCACAGAGGTGATACGTTCCTG TGCTGCAAAAGTCAACAAAAATCTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAACATGCTGAC CGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCGGTTTTTGACTAAAGGCCAGAATGCATTGGTAGAGCTACAGACACAAAGA CCAATAGCTCTTGAGCTATATAAAGACTTTAAAGAGCTGGGGAGGTTCATGCTACGTTACGGTGGTTCTACAATAGCTGCTGGTGTTGTC ACTGAGATAAAAGAATGATGGGTCAGAATTTCTACCACGTTTCTGGATACAGTGAAATAGCTAACCTCTGTTTCAAGAATGCAGTTATTA AGTCAAAGGAACAATGTGCAATTGATATGTTTTTAGATGAGAGAGAAAAATTAAAGCTAAAATTAGCTGCAAAGAAGTATTAATAATCAC CTCTGCAAAAATTCTAAGTTGCCAACTGGCAAAGAAAGTCTAATGTTAAAAACAACTTTGCCTTTGAAACGTTAATAAATGGATTTACTT TGCTAAGATTTATGGCAAGTGTCAAAAATAGTATCTGAAGATACTGAATCATCATGAAATGAACTCTACTTCTGGCCAAAGCACAATGTA TTTGCAGTTTTCTCTTTTGATTCAATTATACTGCACATGTTTTAAGGAAAAGTAACTTAATTGGGTTTTTCAGGCAGTTGATATTTGACC TAAGCTTTTTTTTTTTTTTTTTTTCCAGTTAATGCTAAGAAAAGATTTGGGGAAGGTTATAATAAAAGTATTTTGTGGTGACCATAAGAA TGTCCCTCCCCAAACAAGTAAACTTGTGAAAGTTTAATTTGGAATTAGTGGAAGCTGTTCCTTTGAAAGCCAAGATATTATTTAAGTTGT >3094_3094_12_AHI1-HBS1L_AHI1_chr6_135715914_ENST00000417892_HBS1L_chr6_135287611_ENST00000527578_length(amino acids)=392AA_BP= MRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAIL VRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRI MDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY IYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSP -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for AHI1-HBS1L |
| 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 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000327035 | - | 22 | 23 | 141_434 | 1036.3333333333333 | 1054.0 | HAP1 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000367800 | - | 21 | 27 | 141_434 | 1036.3333333333333 | 1197.0 | HAP1 |
| Hgene | AHI1 | chr6:135715914 | chr6:135287611 | ENST00000457866 | - | 22 | 28 | 141_434 | 1036.3333333333333 | 1197.0 | HAP1 |
| - 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 AHI1-HBS1L |
| 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 AHI1-HBS1L |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AHI1 | C1837713 | JOUBERT SYNDROME 3 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | AHI1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | AHI1 | C0007760 | Cerebellar Diseases | 1 | CTD_human |
| Hgene | AHI1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
| Hgene | AHI1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
| Hgene | AHI1 | C0035304 | Retinal Degeneration | 1 | CTD_human |
| Hgene | AHI1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | AHI1 | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND |
| Hgene | AHI1 | C0162538 | Immunoglobulin A deficiency (disorder) | 1 | CTD_human |
| Hgene | AHI1 | C0431399 | Familial aplasia of the vermis | 1 | GENOMICS_ENGLAND;ORPHANET |
| Hgene | AHI1 | C0917816 | Mental deficiency | 1 | CTD_human |
| Hgene | AHI1 | C3553264 | JOUBERT SYNDROME 17 | 1 | GENOMICS_ENGLAND |
| Hgene | AHI1 | C3714756 | Intellectual Disability | 1 | CTD_human |
| Hgene | AHI1 | C4274118 | Joubert syndrome with ocular defect | 1 | ORPHANET |
| Hgene | AHI1 | C4551568 | Joubert syndrome 1 | 1 | ORPHANET |
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