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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CHST9-AQP4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CHST9-AQP4
FusionPDB ID: 16715
FusionGDB2.0 ID: 16715
HgeneTgene
Gene symbol

CHST9

AQP4

Gene ID

83539

361

Gene namecarbohydrate sulfotransferase 9aquaporin 4
SynonymsGALNAC4ST-2|GalNAc4ST2MIWC|WCH4
Cytomap

18q11.2

18q11.2

Type of geneprotein-codingprotein-coding
Descriptioncarbohydrate sulfotransferase 9GalNAc-4-sulfotransferase 2N-acetylgalactosamine 4-O-sulfotransferase 2carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9galNAc-4-O-sulfotransferase 2aquaporin-4aquaporin type4mercurial-insensitive water channel
Modification date2020031320200329
UniProtAcc

Q7L1S5

P55087

Ensembl transtripts involved in fusion geneENST idsENST00000284224, ENST00000580774, 
ENST00000581714, 
ENST00000440832, 
ENST00000581374, ENST00000583022, 
ENST00000383168, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 4=1205 X 3 X 4=60
# samples 76
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CHST9 [Title/Abstract] AND AQP4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CHST9(24604080)-AQP4(24442560), # samples:2
Anticipated loss of major functional domain due to fusion event.CHST9-AQP4 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.
CHST9-AQP4 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.
CHST9-AQP4 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CHST9-AQP4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCHST9

GO:0006790

sulfur compound metabolic process

11445554

TgeneAQP4

GO:0006833

water transport

8601457|19383790

TgeneAQP4

GO:0051289

protein homotetramerization

19383790

TgeneAQP4

GO:0071346

cellular response to interferon-gamma

17645239


check buttonFusion gene breakpoints across CHST9 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across AQP4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerTCGA-91-6828-11ACHST9chr18

24604080

-AQP4chr18

24442560

-
ChimerDB4Non-CancerTCGA-BH-A0DG-11ACHST9chr18

24524292

-AQP4chr18

24442560

-
ChimerDB4Non-CancerTCGA-BH-A18U-11ACHST9chr18

24604080

-AQP4chr18

24442560

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000284224CHST9chr1824604080-ENST00000383168AQP4chr1824442560-55934804391419326
ENST00000580774CHST9chr1824604080-ENST00000383168AQP4chr1824442560-55744614201400326

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000284224ENST00000383168CHST9chr1824604080-AQP4chr1824442560-0.0003312410.9996687
ENST00000580774ENST00000383168CHST9chr1824604080-AQP4chr1824442560-0.0003329840.99966705

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>16715_16715_1_CHST9-AQP4_CHST9_chr18_24604080_ENST00000284224_AQP4_chr18_24442560_ENST00000383168_length(amino acids)=326AA_BP=0
MGTSEVLAACTQNHKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQC
FGHISGGHINPAVTVAMVCTRKISIAKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFAS
CDSKRTDVTGSIALAIGFSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFS

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>16715_16715_2_CHST9-AQP4_CHST9_chr18_24604080_ENST00000580774_AQP4_chr18_24442560_ENST00000383168_length(amino acids)=326AA_BP=0
MGTSEVLAACTQNHKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQC
FGHISGGHINPAVTVAMVCTRKISIAKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFAS
CDSKRTDVTGSIALAIGFSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFS

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr18:24604080/chr18:24442560)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHST9

Q7L1S5

AQP4

P55087

FUNCTION: Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Participates in biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. Has a higher activity toward carbonic anhydrase VI than toward lutropin. Only active against terminal GalNAcbeta1,GalNAcbeta. Isoform 2, but not isoform 1, is active toward chondroitin.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}.

check buttonRetention 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

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCHST9chr18:24604080chr18:24442560ENST00000284224-461_1267.33333333333333444.0Topological domainCytoplasmic
HgeneCHST9chr18:24604080chr18:24442560ENST00000580774-451_1267.3333333333333375.0Topological domainCytoplasmic
HgeneCHST9chr18:24604080chr18:24442560ENST00000581714-351_1267.33333333333333444.0Topological domainCytoplasmic
HgeneCHST9chr18:24604080chr18:24442560ENST00000284224-4613_3367.33333333333333444.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneCHST9chr18:24604080chr18:24442560ENST00000580774-4513_3367.3333333333333375.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneCHST9chr18:24604080chr18:24442560ENST00000581714-3513_3367.33333333333333444.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805209_22210.666666666666666324.0IntramembraneDiscontinuously helical
TgeneAQP4chr18:24604080chr18:24442560ENST000003831680594_10110.666666666666666324.0IntramembraneDiscontinuously helical
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205209_2220302.0IntramembraneDiscontinuously helical
TgeneAQP4chr18:24604080chr18:24442560ENST000004408320594_1010302.0IntramembraneDiscontinuously helical
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404209_2220302.0IntramembraneDiscontinuously helical
TgeneAQP4chr18:24604080chr18:24442560ENST000005813740494_1010302.0IntramembraneDiscontinuously helical
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805213_21510.666666666666666324.0MotifNPA 2
TgeneAQP4chr18:24604080chr18:24442560ENST000003831680597_9910.666666666666666324.0MotifNPA 1
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205213_2150302.0MotifNPA 2
TgeneAQP4chr18:24604080chr18:24442560ENST000004408320597_990302.0MotifNPA 1
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404213_2150302.0MotifNPA 2
TgeneAQP4chr18:24604080chr18:24442560ENST000005813740497_990302.0MotifNPA 1
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805102_11510.666666666666666324.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805137_15510.666666666666666324.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805177_18410.666666666666666324.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805206_20810.666666666666666324.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805223_23110.666666666666666324.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805253_32310.666666666666666324.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST000003831680558_6910.666666666666666324.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST000003831680590_9310.666666666666666324.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205102_1150302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205137_1550302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205177_1840302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST00000440832051_360302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205206_2080302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205223_2310302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205253_3230302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST000004408320558_690302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST000004408320590_930302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404102_1150302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404137_1550302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404177_1840302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST00000581374041_360302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404206_2080302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404223_2310302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404253_3230302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST000005813740458_690302.0Topological domainExtracellular
TgeneAQP4chr18:24604080chr18:24442560ENST000005813740490_930302.0Topological domainCytoplasmic
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805116_13610.666666666666666324.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805156_17610.666666666666666324.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805185_20510.666666666666666324.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000038316805232_25210.666666666666666324.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST000003831680537_5710.666666666666666324.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST000003831680570_8910.666666666666666324.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205116_1360302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205156_1760302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205185_2050302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000044083205232_2520302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST000004408320537_570302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST000004408320570_890302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404116_1360302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404156_1760302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404185_2050302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST0000058137404232_2520302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST000005813740437_570302.0TransmembraneHelical
TgeneAQP4chr18:24604080chr18:24442560ENST000005813740470_890302.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCHST9chr18:24604080chr18:24442560ENST00000284224-46220_22667.33333333333333444.0Nucleotide bindingPAPS
HgeneCHST9chr18:24604080chr18:24442560ENST00000284224-46280_28867.33333333333333444.0Nucleotide bindingPAPS
HgeneCHST9chr18:24604080chr18:24442560ENST00000580774-45220_22667.3333333333333375.0Nucleotide bindingPAPS
HgeneCHST9chr18:24604080chr18:24442560ENST00000580774-45280_28867.3333333333333375.0Nucleotide bindingPAPS
HgeneCHST9chr18:24604080chr18:24442560ENST00000581714-35220_22667.33333333333333444.0Nucleotide bindingPAPS
HgeneCHST9chr18:24604080chr18:24442560ENST00000581714-35280_28867.33333333333333444.0Nucleotide bindingPAPS
HgeneCHST9chr18:24604080chr18:24442560ENST00000284224-4634_44367.33333333333333444.0Topological domainLumenal
HgeneCHST9chr18:24604080chr18:24442560ENST00000580774-4534_44367.3333333333333375.0Topological domainLumenal
HgeneCHST9chr18:24604080chr18:24442560ENST00000581714-3534_44367.33333333333333444.0Topological domainLumenal
TgeneAQP4chr18:24604080chr18:24442560ENST00000383168051_3610.666666666666666324.0Topological domainCytoplasmic


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>604_CHST9_24604080_AQP4_24442560_ranked_0.pdbCHST92460408024604080ENST00000383168AQP4chr1824442560-
MGTSEVLAACTQNHKCGPLCTRENIMVAFKGVWTQAFWKAVTAEFLAMLIFVLLSLGSTINWGGTEKPLPVDMVLISLCFGLSIATMVQC
FGHISGGHINPAVTVAMVCTRKISIAKSVFYIAAQCLGAIIGAGILYLVTPPSVVGGLGVTMVHGNLTAGHGLLVELIITFQLVFTIFAS
CDSKRTDVTGSIALAIGFSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWVGPIIGAVLAGGLYEYVFCPDVEFKRRFKEAFS
326


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
CHST9_pLDDT.png
all structure
all structure
AQP4_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CHST9
AQP4


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CHST9-AQP4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CHST9-AQP4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource