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Center for Computational Systems Medicine level1
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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-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AP3D1-AQP3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AP3D1-AQP3
FusionPDB ID: 5273
FusionGDB2.0 ID: 5273
HgeneTgene
Gene symbol

AP3D1

AQP3

Gene ID

8943

360

Gene nameadaptor related protein complex 3 subunit delta 1aquaporin 3 (Gill blood group)
SynonymsADTD|HPS10|hBLVRAQP-3|GIL
Cytomap

19p13.3

9p13.3

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit delta-1AP-3 complex delta subunit, partial CDSadapter-related protein complex 3 subunit delta-1adaptor related protein complex 3 delta 1 subunitdelta adaptinsubunit of putative vesicle coat adaptor complex AP-3aquaporin-3aquaglyceroporin-3aquaporin 3 (GIL blood group)
Modification date2020031320200329
UniProtAcc

O14617

Q92482

Ensembl transtripts involved in fusion geneENST idsENST00000345016, ENST00000350812, 
ENST00000355272, ENST00000356926, 
ENST00000590683, 		ENST00000493581, 
ENST00000297991, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 16 X 10=25603 X 2 X 3=18
# samples 193
** MAII scorelog2(19/2560*10)=-3.75207248655641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AP3D1 [Title/Abstract] AND AQP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AP3D1(2137009)-AQP3(33443890), # samples:1
Anticipated loss of major functional domain due to fusion event.AP3D1-AQP3 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.
AP3D1-AQP3 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.
AP3D1-AQP3 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.
AP3D1-AQP3 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.
AP3D1-AQP3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AP3D1-AQP3 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
TgeneAQP3

GO:0002684

positive regulation of immune system process

17943189

TgeneAQP3

GO:0006833

water transport

30420639

TgeneAQP3

GO:0015793

glycerol transport

30420639

TgeneAQP3

GO:0032526

response to retinoic acid

17943189

TgeneAQP3

GO:0071456

cellular response to hypoxia

24462679


check buttonFusion gene breakpoints across AP3D1 (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 AQP3 (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
ChimerDB4LIHCTCGA-DD-A11DAP3D1chr19

2137009

-AQP3chr9

33443890

-


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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)
ENST00000355272AP3D1chr192137009-ENST00000297991AQP3chr933443890-2221561901331413
ENST00000356926AP3D1chr192137009-ENST00000297991AQP3chr933443890-22375771061347413
ENST00000345016AP3D1chr192137009-ENST00000297991AQP3chr933443890-22465861151356413

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
ENST00000355272ENST00000297991AP3D1chr192137009-AQP3chr933443890-0.001794210.9982058
ENST00000356926ENST00000297991AP3D1chr192137009-AQP3chr933443890-0.0018014540.99819857
ENST00000345016ENST00000297991AP3D1chr192137009-AQP3chr933443890-0.0018180880.99818194

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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

>5273_5273_1_AP3D1-AQP3_AP3D1_chr19_2137009_ENST00000345016_AQP3_chr9_33443890_ENST00000297991_length(amino acids)=413AA_BP=157
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKMFGCGSVAQVVLSRGTHGGFLTI
NLAFGFAVTLGILIAGQVSGAHLNPAVTFAMCFLAREPWIKLPIYTLAQTLGAFLGAGIVFGLYYDAIWHFADNQLFVSGPNGTAGIFAT
YPSGHLDMINGFFDQFIGTASLIVCVLAIVDPYNNPVPRGLEAFTVGLVVLVIGTSMGFNSGYAVNPARDFGPRLFTALAGWGSAVFTTG

--------------------------------------------------------------

>5273_5273_2_AP3D1-AQP3_AP3D1_chr19_2137009_ENST00000355272_AQP3_chr9_33443890_ENST00000297991_length(amino acids)=413AA_BP=157
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKMFGCGSVAQVVLSRGTHGGFLTI
NLAFGFAVTLGILIAGQVSGAHLNPAVTFAMCFLAREPWIKLPIYTLAQTLGAFLGAGIVFGLYYDAIWHFADNQLFVSGPNGTAGIFAT
YPSGHLDMINGFFDQFIGTASLIVCVLAIVDPYNNPVPRGLEAFTVGLVVLVIGTSMGFNSGYAVNPARDFGPRLFTALAGWGSAVFTTG

--------------------------------------------------------------

>5273_5273_3_AP3D1-AQP3_AP3D1_chr19_2137009_ENST00000356926_AQP3_chr9_33443890_ENST00000297991_length(amino acids)=413AA_BP=157
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYLQMLGYDISWAAFNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKMFGCGSVAQVVLSRGTHGGFLTI
NLAFGFAVTLGILIAGQVSGAHLNPAVTFAMCFLAREPWIKLPIYTLAQTLGAFLGAGIVFGLYYDAIWHFADNQLFVSGPNGTAGIFAT
YPSGHLDMINGFFDQFIGTASLIVCVLAIVDPYNNPVPRGLEAFTVGLVVLVIGTSMGFNSGYAVNPARDFGPRLFTALAGWGSAVFTTG

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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/chr19:2137009/chr9:33443890)
- 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
AP3D1

O14617

AQP3

Q92482

FUNCTION: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. Involved in process of CD8+ T-cell and NK cell degranulation (PubMed:26744459). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (By similarity). {ECO:0000250|UniProtKB:O54774, ECO:0000269|PubMed:26744459}.FUNCTION: Water channel required to promote glycerol permeability and water transport across cell membranes (PubMed:12239222, PubMed:30420639). Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct cells. It may play an important role in gastrointestinal tract water transport and in glycerol metabolism (By similarity). {ECO:0000250|UniProtKB:Q8R2N1, ECO:0000269|PubMed:12239222, ECO:0000269|PubMed:30420639}.

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
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-43034_71118.01154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-43077_114118.01154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-43234_71118.01216.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-43277_114118.01216.0RepeatNote=HEAT 2
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106209_22736.0293.0IntramembraneDiscontinuously helical
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910679_9236.0293.0IntramembraneDiscontinuously helical
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106215_21736.0293.0MotifNPA 2
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910683_8536.0293.0MotifNPA 1
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106124_15736.0293.0Topological domainExtracellular
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106179_18836.0293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106228_24436.0293.0Topological domainExtracellular
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106266_29236.0293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910648_5336.0293.0Topological domainExtracellular
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910675_7836.0293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910693_9836.0293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106158_17836.0293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106189_20836.0293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106245_26536.0293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910654_7436.0293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910699_12336.0293.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430659_679118.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430725_756118.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430845_869118.01154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432659_679118.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432725_756118.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432845_869118.01216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430828_893118.01154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432828_893118.01216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430142_179118.01154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430180_216118.01154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430254_292118.01154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430299_336118.01154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430338_373118.01154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430375_409118.01154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430431_468118.01154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430497_535118.01154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430548_585118.01154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432142_179118.01216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432180_216118.01216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432254_292118.01216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432299_336118.01216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432338_373118.01216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432375_409118.01216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432431_468118.01216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432497_535118.01216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432548_585118.01216.0RepeatNote=HEAT 11
TgeneAQP3chr19:2137009chr9:33443890ENST00000297991061_2636.0293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910627_4736.0293.0TransmembraneHelical


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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
AP3D1
AQP3


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 AP3D1-AQP3


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 AP3D1-AQP3


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