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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:HBS1L-AHI1 (FusionGDB2 ID:35586) |
Fusion Gene Summary for HBS1L-AHI1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HBS1L-AHI1 | Fusion gene ID: 35586 | Hgene | Tgene | Gene symbol | HBS1L | AHI1 | Gene ID | 10767 | 54806 |
| Gene name | HBS1 like translational GTPase | Abelson helper integration site 1 | |
| Synonyms | EF-1a|ERFS|HBS1|HSPC276|eRF3c | AHI-1|JBTS3|ORF1|dJ71N10.1 | |
| Cytomap | 6q23.3 | 6q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | HBS1-like proteinERF3-similar proteinHsp70 subfamily B suppressor 1-like proteineRF3 family member | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9Y450 | Q8N157 | |
| Ensembl transtripts involved in fusion gene | ENST00000367837, ENST00000527578, ENST00000415177, ENST00000367826, ENST00000367824, ENST00000445176, ENST00000314674, ENST00000367822, ENST00000367820, ENST00000525067, | ENST00000367800, ENST00000457866, ENST00000417892, ENST00000327035, ENST00000488690, ENST00000367798, ENST00000528103, ENST00000534469, ENST00000531527, | |
| Fusion gene scores | * DoF score | 6 X 5 X 6=180 | 9 X 10 X 7=630 |
| # samples | 7 | 10 | |
| ** MAII score | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/630*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HBS1L [Title/Abstract] AND AHI1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | AHI1(135715914)-HBS1L(135287611), # samples:2 HBS1L(135360710)-AHI1(135788772), # samples:1 | ||
| 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 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 HBS1L (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 AHI1 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | ESCA | TCGA-L5-A8NE | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
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Fusion Gene ORF analysis for HBS1L-AHI1 |
| 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 | ENST00000367837 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367837 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367837 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000527578 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000527578 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000527578 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000415177 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000415177 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000415177 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367826 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367826 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367826 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000367824 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000367824 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000367824 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000445176 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-3CDS | ENST00000445176 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| intron-intron | ENST00000445176 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000314674 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000314674 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000314674 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367822 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367822 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367822 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367820 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000367820 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000367820 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000525067 | ENST00000367800 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| Frame-shift | ENST00000525067 | ENST00000457866 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000417892 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000327035 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000488690 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000367798 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000528103 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000534469 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 5CDS-intron | ENST00000525067 | ENST00000531527 | HBS1L | chr6 | 135360710 | - | AHI1 | chr6 | 135788772 | - |
| 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) |
| 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 |
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Fusion Genomic Features for HBS1L-AHI1 |
| 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. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for HBS1L-AHI1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HBS1L | AHI1 |
| FUNCTION: Cotranslational quality control factor involved in the No-Go Decay (NGD) pathway (PubMed:21448132). In the presence of ABCE1 and PELO, is required for 48S complex formation from 80S ribosomes and dissociation of vacant 80S ribosomes (PubMed:21448132). Together with PELO and in presence of ABCE1, recognizes stalled ribosomes and promotes dissociation of elongation complexes assembled on non-stop mRNAs; this triggers endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and to degrade damaged mRNAs as part of the No-Go Decay (NGD) pathway (PubMed:21448132). {ECO:0000269|PubMed:21448132}.; FUNCTION: [Isoform 2]: Facilitates the association of the exosome complex with the SKI complex. {ECO:0000269|PubMed:28204585}. | 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}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for HBS1L-AHI1 |
| 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. |
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Fusion Gene PPI Analysis for HBS1L-AHI1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for HBS1L-AHI1 |
| 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 HBS1L-AHI1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | AHI1 | C1837713 | JOUBERT SYNDROME 3 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | AHI1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | AHI1 | C0007760 | Cerebellar Diseases | 1 | CTD_human |
| Tgene | AHI1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
| Tgene | AHI1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
| Tgene | AHI1 | C0035304 | Retinal Degeneration | 1 | CTD_human |
| Tgene | AHI1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | AHI1 | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND |
| Tgene | AHI1 | C0162538 | Immunoglobulin A deficiency (disorder) | 1 | CTD_human |
| Tgene | AHI1 | C0431399 | Familial aplasia of the vermis | 1 | GENOMICS_ENGLAND;ORPHANET |
| Tgene | AHI1 | C0917816 | Mental deficiency | 1 | CTD_human |
| Tgene | AHI1 | C3553264 | JOUBERT SYNDROME 17 | 1 | GENOMICS_ENGLAND |
| Tgene | AHI1 | C3714756 | Intellectual Disability | 1 | CTD_human |
| Tgene | AHI1 | C4274118 | Joubert syndrome with ocular defect | 1 | ORPHANET |
| Tgene | AHI1 | C4551568 | Joubert syndrome 1 | 1 | ORPHANET |
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