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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-AHI1 (FusionGDB2 ID:HG54806TG54806) |
Fusion Gene Summary for AHI1-AHI1 |
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Fusion gene information | Fusion gene name: AHI1-AHI1 | Fusion gene ID: hg54806tg54806 | Hgene | Tgene | Gene symbol | AHI1 | AHI1 | Gene ID | 54806 | 54806 |
Gene name | Abelson helper integration site 1 | Abelson helper integration site 1 | |
Synonyms | AHI-1|JBTS3|ORF1|dJ71N10.1 | AHI-1|JBTS3|ORF1|dJ71N10.1 | |
Cytomap | ('AHI1')('AHI1') 6q23.3 | 6q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q8N157 | Q8N157 | |
Ensembl transtripts involved in fusion gene | ENST00000327035, ENST00000367798, ENST00000367800, ENST00000417892, ENST00000457866, ENST00000488690, ENST00000528103, ENST00000531527, ENST00000534469, | ENST00000367800, ENST00000457866, ENST00000327035, ENST00000367798, ENST00000417892, ENST00000488690, ENST00000528103, ENST00000531527, ENST00000534469, | |
Fusion gene scores | * DoF score | 10 X 11 X 6=660 | 9 X 10 X 7=630 |
# samples | 10 | 10 | |
** MAII score | log2(10/660*10)=-2.72246602447109 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: AHI1 [Title/Abstract] AND AHI1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AHI1(135786845)-AHI1(135787429), # samples:1 AHI1(135605233)-AHI1(135605600), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * 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 |
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Fusion Gene ORF analysis for AHI1-AHI1 |
![]() * 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 |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for AHI1-AHI1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for AHI1-AHI1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:135786845/:135787429) - 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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Hgene | Tgene |
AHI1 | 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: 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}. |
![]() * 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 AHI1-AHI1 |
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Fusion Gene PPI Analysis for AHI1-AHI1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for AHI1-AHI1 |
![]() (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-AHI1 |
![]() (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 |
Tgene | C1837713 | JOUBERT SYNDROME 3 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human | |
Tgene | C0007760 | Cerebellar Diseases | 1 | CTD_human | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0035304 | Retinal Degeneration | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | CTD_human | |
Tgene | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND | |
Tgene | C0162538 | Immunoglobulin A deficiency (disorder) | 1 | CTD_human | |
Tgene | C0431399 | Familial aplasia of the vermis | 1 | GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C3553264 | JOUBERT SYNDROME 17 | 1 | GENOMICS_ENGLAND | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human | |
Tgene | C4274118 | Joubert syndrome with ocular defect | 1 | ORPHANET | |
Tgene | C4551568 | Joubert syndrome 1 | 1 | ORPHANET |