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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:AQP4-AQP4 (FusionGDB2 ID:HG361TG361) |
Fusion Gene Summary for AQP4-AQP4 |
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Fusion gene information | Fusion gene name: AQP4-AQP4 | Fusion gene ID: hg361tg361 | Hgene | Tgene | Gene symbol | AQP4 | AQP4 | Gene ID | 361 | 361 |
Gene name | aquaporin 4 | aquaporin 4 | |
Synonyms | MIWC|WCH4 | MIWC|WCH4 | |
Cytomap | ('AQP4')('AQP4') 18q11.2 | 18q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | aquaporin-4aquaporin type4mercurial-insensitive water channel | aquaporin-4aquaporin type4mercurial-insensitive water channel | |
Modification date | 20200329 | 20200329 | |
UniProtAcc | P55087 | P55087 | |
Ensembl transtripts involved in fusion gene | ENST00000583022, ENST00000383168, ENST00000440832, ENST00000581374, | ENST00000383168, ENST00000440832, ENST00000581374, ENST00000583022, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 3 X 4=60 |
# samples | 1 | 6 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/60*10)=0 | |
Context | PubMed: AQP4 [Title/Abstract] AND AQP4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AQP4(24436252)-AQP4(24435347), # 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 |
Hgene | AQP4 | GO:0006833 | water transport | 8601457|19383790 |
Hgene | AQP4 | GO:0051289 | protein homotetramerization | 19383790 |
Hgene | AQP4 | GO:0071346 | cellular response to interferon-gamma | 17645239 |
Tgene | AQP4 | GO:0006833 | water transport | 8601457|19383790 |
Tgene | AQP4 | GO:0051289 | protein homotetramerization | 19383790 |
Tgene | AQP4 | GO:0071346 | cellular response to interferon-gamma | 17645239 |
![]() * 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 AQP4-AQP4 |
![]() * 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 AQP4-AQP4 |
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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 AQP4-AQP4 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:24436252/:24435347) - 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 |
AQP4 | AQP4 |
FUNCTION: Forms a water-specific channel (PubMed:7559426, PubMed:8601457, PubMed:19383790). Plays an important role in brain water homeostasis and in glymphatic solute transport. Required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity). {ECO:0000250|UniProtKB:P55088, ECO:0000269|PubMed:19383790, ECO:0000269|PubMed:7559426, ECO:0000269|PubMed:8601457}. | FUNCTION: Forms a water-specific channel (PubMed:7559426, PubMed:8601457, PubMed:19383790). Plays an important role in brain water homeostasis and in glymphatic solute transport. Required for a normal rate of water exchange across the blood brain interface. Required for normal levels of cerebrospinal fluid influx into the brain cortex and parenchyma along paravascular spaces that surround penetrating arteries, and for normal drainage of interstitial fluid along paravenous drainage pathways. Thereby, it is required for normal clearance of solutes from the brain interstitial fluid, including soluble beta-amyloid peptides derived from APP. Plays a redundant role in urinary water homeostasis and urinary concentrating ability (By similarity). {ECO:0000250|UniProtKB:P55088, ECO:0000269|PubMed:19383790, ECO:0000269|PubMed:7559426, ECO:0000269|PubMed:8601457}. |
![]() * 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 AQP4-AQP4 |
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Fusion Gene PPI Analysis for AQP4-AQP4 |
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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 AQP4-AQP4 |
![]() (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 AQP4-AQP4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AQP4 | C0011570 | Mental Depression | 2 | PSYGENET |
Hgene | AQP4 | C0027873 | Neuromyelitis Optica | 2 | CTD_human |
Hgene | AQP4 | C0036341 | Schizophrenia | 2 | PSYGENET |
Hgene | AQP4 | C0338715 | Drug-induced depressive state | 2 | PSYGENET |
Hgene | AQP4 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | AQP4 | C0011581 | Depressive disorder | 1 | PSYGENET |
Hgene | AQP4 | C0038220 | Status Epilepticus | 1 | CTD_human |
Hgene | AQP4 | C0038644 | Sudden infant death syndrome | 1 | GENOMICS_ENGLAND |
Hgene | AQP4 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Hgene | AQP4 | C0270823 | Petit mal status | 1 | CTD_human |
Hgene | AQP4 | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
Hgene | AQP4 | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
Hgene | AQP4 | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
Hgene | AQP4 | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
Hgene | AQP4 | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
Tgene | C0011570 | Mental Depression | 2 | PSYGENET | |
Tgene | C0027873 | Neuromyelitis Optica | 2 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 2 | PSYGENET | |
Tgene | C0338715 | Drug-induced depressive state | 2 | PSYGENET | |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human | |
Tgene | C0011581 | Depressive disorder | 1 | PSYGENET | |
Tgene | C0038220 | Status Epilepticus | 1 | CTD_human | |
Tgene | C0038644 | Sudden infant death syndrome | 1 | GENOMICS_ENGLAND | |
Tgene | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human | |
Tgene | C0270823 | Petit mal status | 1 | CTD_human | |
Tgene | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human | |
Tgene | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human | |
Tgene | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human | |
Tgene | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human | |
Tgene | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |