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in Kim Lab

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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AP3D1-AQP3 (FusionGDB2 ID:HG8943TG360)

Fusion Gene Summary for AP3D1-AQP3

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3D1-AQP3
Fusion gene ID: hg8943tg360
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('AP3D1')('AQP3')

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.

Q92482

Ensembl transtripts involved in fusion geneENST00000345016, ENST00000350812, 
ENST00000355272, ENST00000356926, 
ENST00000590683, 
Fusion gene scores* 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

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

Most frequent breakpointAP3D1(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

check button Fusion gene information
* 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 Gene ORF analysis for AP3D1-AQP3

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000345016ENST00000493581AP3D1chr19

2137009

-AQP3chr9

33443890

-
5CDS-5UTRENST00000350812ENST00000493581AP3D1chr19

2137009

-AQP3chr9

33443890

-
5CDS-5UTRENST00000355272ENST00000493581AP3D1chr19

2137009

-AQP3chr9

33443890

-
5CDS-5UTRENST00000356926ENST00000493581AP3D1chr19

2137009

-AQP3chr9

33443890

-
Frame-shiftENST00000350812ENST00000297991AP3D1chr19

2137009

-AQP3chr9

33443890

-
In-frameENST00000345016ENST00000297991AP3D1chr19

2137009

-AQP3chr9

33443890

-
In-frameENST00000355272ENST00000297991AP3D1chr19

2137009

-AQP3chr9

33443890

-
In-frameENST00000356926ENST00000297991AP3D1chr19

2137009

-AQP3chr9

33443890

-
intron-3CDSENST00000590683ENST00000297991AP3D1chr19

2137009

-AQP3chr9

33443890

-
intron-5UTRENST00000590683ENST00000493581AP3D1chr19

2137009

-AQP3chr9

33443890

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
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 Genomic Features for AP3D1-AQP3


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.
genomic feature

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Fusion Protein Features for AP3D1-AQP3


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
.AQP3

Q92482

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-43034_711181154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-43077_1141181154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-43234_711181216.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-43277_1141181216.0RepeatNote=HEAT 2
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106209_22736293.0IntramembraneDiscontinuously helical
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910679_9236293.0IntramembraneDiscontinuously helical
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106215_21736293.0MotifNPA 2
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910683_8536293.0MotifNPA 1
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106124_15736293.0Topological domainExtracellular
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106179_18836293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106228_24436293.0Topological domainExtracellular
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106266_29236293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910648_5336293.0Topological domainExtracellular
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910675_7836293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910693_9836293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106158_17836293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106189_20836293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST0000029799106245_26536293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910654_7436293.0TransmembraneHelical
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910699_12336293.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430659_6791181154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430725_7561181154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430845_8691181154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432659_6791181216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432725_7561181216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432845_8691181216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430828_8931181154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432828_8931181216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430142_1791181154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430180_2161181154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430254_2921181154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430299_3361181154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430338_3731181154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430375_4091181154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430431_4681181154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430497_5351181154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2137009chr9:33443890ENST00000345016-430548_5851181154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432142_1791181216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432180_2161181216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432254_2921181216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432299_3361181216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432338_3731181216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432375_4091181216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432431_4681181216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432497_5351181216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2137009chr9:33443890ENST00000355272-432548_5851181216.0RepeatNote=HEAT 11
TgeneAQP3chr19:2137009chr9:33443890ENST00000297991061_2636293.0Topological domainCytoplasmic
TgeneAQP3chr19:2137009chr9:33443890ENST000002979910627_4736293.0TransmembraneHelical


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Fusion Gene Sequence for AP3D1-AQP3


check button 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.
>5273_5273_1_AP3D1-AQP3_AP3D1_chr19_2137009_ENST00000345016_AQP3_chr9_33443890_ENST00000297991_length(transcript)=2246nt_BP=586nt
GCCGCCATCTTGTCCGCCATTTGCAAGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGAC
CCCGCCGCCGCCCTGGCCTGGGAGCTTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCC
TCACGGCGCCCAGCCGCGGGCCTCCCGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCAT
GTTCGACAAGAATCTGCAGGACTTGGTCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGAT
CAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTACAGATGTTGGGATACGACATCAG
CTGGGCCGCCTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCA
CGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGATGTTTGGCTGTGGCTCCGTGGCCCAGGTTGTGCTCAGCCGGGG
CACCCACGGTGGTTTCCTCACCATCAACCTGGCCTTTGGCTTTGCTGTCACTCTGGGCATCCTCATCGCTGGCCAGGTCTCTGGGGCCCA
CCTGAACCCTGCCGTGACCTTTGCCATGTGCTTCCTGGCTCGTGAGCCCTGGATCAAGCTGCCCATCTACACCCTGGCACAGACGCTGGG
AGCCTTCTTGGGTGCTGGAATAGTTTTTGGGCTGTATTATGATGCAATCTGGCACTTCGCCGACAACCAGCTTTTTGTTTCGGGCCCCAA
TGGCACAGCCGGCATCTTTGCTACCTACCCCTCTGGACACTTGGATATGATCAATGGCTTCTTTGACCAGTTCATAGGCACAGCCTCCCT
TATCGTGTGTGTGCTGGCCATTGTTGACCCCTACAACAACCCCGTCCCCCGAGGCCTGGAGGCCTTCACCGTGGGCCTGGTGGTCCTGGT
CATTGGCACCTCCATGGGCTTCAACTCCGGCTATGCCGTCAACCCTGCCCGGGACTTTGGCCCCCGCCTTTTTACAGCCCTTGCGGGCTG
GGGCTCTGCAGTCTTCACGACCGGCCAGCATTGGTGGTGGGTGCCCATCGTGTCCCCACTCCTGGGCTCCATTGCGGGTGTCTTCGTGTA
CCAGCTGATGATCGGCTGCCACCTGGAGCAGCCCCCACCCTCCAACGAGGAAGAGAATGTGAAGCTGGCCCATGTGAAGCACAAGGAGCA
GATCTGAGTGGGCAGGGGCCATCTCCCCACTCCGCTGCCCTGGCCTTGAGCATCCACTGACTGTCCAAGGGCCACTCCCAAGAAGCCCCC
TTCACGATCCACCCTTTCAGGCTAAGGAGCTCCCTATCTACCCTCACCCCACGAGACAGCCCCTTCAGGATTTCCACTGGACCTTGCCCA
AATAGCACCTTAGGCCACTGCCCCTAAGCTGGGGTGGAACCGGAATTTGGGTCAATACATCCTTTTGTCTCCCAAGGGAAGAGAATGGGC
AGCAGGTATGTGTGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCAGGGGTGTGTGTGTGTGGGGGGGGTTCCCAGATATTCAG
GGCAAGGGACCAGTCGGAAGGGATTCTGGCTATTGGGGGAGCCCAGAGACAGGGGAAGGCAGCCTGTCCATCTGTGCATAAGGAGAGGAA
AGTTCCAGGGTGTGTATGTTTCAGGGGCTTCACATGGAGGAGCTGCAGATAGATATGTGTTTCTGTGTATGTGTATGTCTGCCTTTTTTT
CTAAGTGGGGGCTTCTACAGGCTTTTGGGAAGTAGGGTGGATGTGGGTAGGGCTGGGAGGAGGGGGCCACAGCTTAGGTTTGGAGCTCTG
GATGTACATACATAAGTAGGAGCAGTGGGACGTGTTTCTGTCATAATGCAGGCATGAAGGGTGGAGTGAAGTCAGGTCATAAGTTTCATG
TTTGCTTTTGTTTTGTTTTGTTTTTAATGTATGTAGCAGATGTTACAGTCTTAGGGATCCGGGATGGGAGACCCCACTTTAGAAAGGGTC
GTCACTCCTTTAATCCTCTACTCAACAATGTACTCTTTTACTTTTATATTAAAAAAAATAAAATAAATATGTGCCTAAAACCTCCA

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

--------------------------------------------------------------
>5273_5273_2_AP3D1-AQP3_AP3D1_chr19_2137009_ENST00000355272_AQP3_chr9_33443890_ENST00000297991_length(transcript)=2221nt_BP=561nt
AGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGACCCCGCCGCCGCCCTGGCCTGGGAGC
TTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCCTCACGGCGCCCAGCCGCGGGCCTCC
CGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCATGTTCGACAAGAATCTGCAGGACTTG
GTCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAAC
ATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTACAGATGTTGGGATACGACATCAGCTGGGCCGCCTTCAACATCATAGAA
GTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTG
ACCACCAATCAGATCCGTAAGATGTTTGGCTGTGGCTCCGTGGCCCAGGTTGTGCTCAGCCGGGGCACCCACGGTGGTTTCCTCACCATC
AACCTGGCCTTTGGCTTTGCTGTCACTCTGGGCATCCTCATCGCTGGCCAGGTCTCTGGGGCCCACCTGAACCCTGCCGTGACCTTTGCC
ATGTGCTTCCTGGCTCGTGAGCCCTGGATCAAGCTGCCCATCTACACCCTGGCACAGACGCTGGGAGCCTTCTTGGGTGCTGGAATAGTT
TTTGGGCTGTATTATGATGCAATCTGGCACTTCGCCGACAACCAGCTTTTTGTTTCGGGCCCCAATGGCACAGCCGGCATCTTTGCTACC
TACCCCTCTGGACACTTGGATATGATCAATGGCTTCTTTGACCAGTTCATAGGCACAGCCTCCCTTATCGTGTGTGTGCTGGCCATTGTT
GACCCCTACAACAACCCCGTCCCCCGAGGCCTGGAGGCCTTCACCGTGGGCCTGGTGGTCCTGGTCATTGGCACCTCCATGGGCTTCAAC
TCCGGCTATGCCGTCAACCCTGCCCGGGACTTTGGCCCCCGCCTTTTTACAGCCCTTGCGGGCTGGGGCTCTGCAGTCTTCACGACCGGC
CAGCATTGGTGGTGGGTGCCCATCGTGTCCCCACTCCTGGGCTCCATTGCGGGTGTCTTCGTGTACCAGCTGATGATCGGCTGCCACCTG
GAGCAGCCCCCACCCTCCAACGAGGAAGAGAATGTGAAGCTGGCCCATGTGAAGCACAAGGAGCAGATCTGAGTGGGCAGGGGCCATCTC
CCCACTCCGCTGCCCTGGCCTTGAGCATCCACTGACTGTCCAAGGGCCACTCCCAAGAAGCCCCCTTCACGATCCACCCTTTCAGGCTAA
GGAGCTCCCTATCTACCCTCACCCCACGAGACAGCCCCTTCAGGATTTCCACTGGACCTTGCCCAAATAGCACCTTAGGCCACTGCCCCT
AAGCTGGGGTGGAACCGGAATTTGGGTCAATACATCCTTTTGTCTCCCAAGGGAAGAGAATGGGCAGCAGGTATGTGTGTGTGTGCATGT
GTGTGCATGTGTGTGCATGTGTGTGCAGGGGTGTGTGTGTGTGGGGGGGGTTCCCAGATATTCAGGGCAAGGGACCAGTCGGAAGGGATT
CTGGCTATTGGGGGAGCCCAGAGACAGGGGAAGGCAGCCTGTCCATCTGTGCATAAGGAGAGGAAAGTTCCAGGGTGTGTATGTTTCAGG
GGCTTCACATGGAGGAGCTGCAGATAGATATGTGTTTCTGTGTATGTGTATGTCTGCCTTTTTTTCTAAGTGGGGGCTTCTACAGGCTTT
TGGGAAGTAGGGTGGATGTGGGTAGGGCTGGGAGGAGGGGGCCACAGCTTAGGTTTGGAGCTCTGGATGTACATACATAAGTAGGAGCAG
TGGGACGTGTTTCTGTCATAATGCAGGCATGAAGGGTGGAGTGAAGTCAGGTCATAAGTTTCATGTTTGCTTTTGTTTTGTTTTGTTTTT
AATGTATGTAGCAGATGTTACAGTCTTAGGGATCCGGGATGGGAGACCCCACTTTAGAAAGGGTCGTCACTCCTTTAATCCTCTACTCAA
CAATGTACTCTTTTACTTTTATATTAAAAAAAATAAAATAAATATGTGCCTAAAACCTCCA

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

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>5273_5273_3_AP3D1-AQP3_AP3D1_chr19_2137009_ENST00000356926_AQP3_chr9_33443890_ENST00000297991_length(transcript)=2237nt_BP=577nt
TTGTCCGCCATTTGCAAGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGACCCCGCCGCC
GCCCTGGCCTGGGAGCTTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCCTCACGGCGC
CCAGCCGCGGGCCTCCCGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCATGTTCGACAA
GAATCTGCAGGACTTGGTCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGA
GCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTACAGATGTTGGGATACGACATCAGCTGGGCCGC
CTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTACCTCGCTGCTTCCCAGAGCTTTCACGAAGGCAC
CGACGTCATCATGCTGACCACCAATCAGATCCGTAAGATGTTTGGCTGTGGCTCCGTGGCCCAGGTTGTGCTCAGCCGGGGCACCCACGG
TGGTTTCCTCACCATCAACCTGGCCTTTGGCTTTGCTGTCACTCTGGGCATCCTCATCGCTGGCCAGGTCTCTGGGGCCCACCTGAACCC
TGCCGTGACCTTTGCCATGTGCTTCCTGGCTCGTGAGCCCTGGATCAAGCTGCCCATCTACACCCTGGCACAGACGCTGGGAGCCTTCTT
GGGTGCTGGAATAGTTTTTGGGCTGTATTATGATGCAATCTGGCACTTCGCCGACAACCAGCTTTTTGTTTCGGGCCCCAATGGCACAGC
CGGCATCTTTGCTACCTACCCCTCTGGACACTTGGATATGATCAATGGCTTCTTTGACCAGTTCATAGGCACAGCCTCCCTTATCGTGTG
TGTGCTGGCCATTGTTGACCCCTACAACAACCCCGTCCCCCGAGGCCTGGAGGCCTTCACCGTGGGCCTGGTGGTCCTGGTCATTGGCAC
CTCCATGGGCTTCAACTCCGGCTATGCCGTCAACCCTGCCCGGGACTTTGGCCCCCGCCTTTTTACAGCCCTTGCGGGCTGGGGCTCTGC
AGTCTTCACGACCGGCCAGCATTGGTGGTGGGTGCCCATCGTGTCCCCACTCCTGGGCTCCATTGCGGGTGTCTTCGTGTACCAGCTGAT
GATCGGCTGCCACCTGGAGCAGCCCCCACCCTCCAACGAGGAAGAGAATGTGAAGCTGGCCCATGTGAAGCACAAGGAGCAGATCTGAGT
GGGCAGGGGCCATCTCCCCACTCCGCTGCCCTGGCCTTGAGCATCCACTGACTGTCCAAGGGCCACTCCCAAGAAGCCCCCTTCACGATC
CACCCTTTCAGGCTAAGGAGCTCCCTATCTACCCTCACCCCACGAGACAGCCCCTTCAGGATTTCCACTGGACCTTGCCCAAATAGCACC
TTAGGCCACTGCCCCTAAGCTGGGGTGGAACCGGAATTTGGGTCAATACATCCTTTTGTCTCCCAAGGGAAGAGAATGGGCAGCAGGTAT
GTGTGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCAGGGGTGTGTGTGTGTGGGGGGGGTTCCCAGATATTCAGGGCAAGGGA
CCAGTCGGAAGGGATTCTGGCTATTGGGGGAGCCCAGAGACAGGGGAAGGCAGCCTGTCCATCTGTGCATAAGGAGAGGAAAGTTCCAGG
GTGTGTATGTTTCAGGGGCTTCACATGGAGGAGCTGCAGATAGATATGTGTTTCTGTGTATGTGTATGTCTGCCTTTTTTTCTAAGTGGG
GGCTTCTACAGGCTTTTGGGAAGTAGGGTGGATGTGGGTAGGGCTGGGAGGAGGGGGCCACAGCTTAGGTTTGGAGCTCTGGATGTACAT
ACATAAGTAGGAGCAGTGGGACGTGTTTCTGTCATAATGCAGGCATGAAGGGTGGAGTGAAGTCAGGTCATAAGTTTCATGTTTGCTTTT
GTTTTGTTTTGTTTTTAATGTATGTAGCAGATGTTACAGTCTTAGGGATCCGGGATGGGAGACCCCACTTTAGAAAGGGTCGTCACTCCT
TTAATCCTCTACTCAACAATGTACTCTTTTACTTTTATATTAAAAAAAATAAAATAAATATGTGCCTAAAACCTCCA

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

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Fusion Gene PPI Analysis for AP3D1-AQP3


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for AP3D1-AQP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AP3D1-AQP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3D1C0001916Albinism1GENOMICS_ENGLAND
HgeneAP3D1C0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneAP3D1C0027947Neutropenia1GENOMICS_ENGLAND
HgeneAP3D1C0036572Seizures1GENOMICS_ENGLAND
HgeneAP3D1C0078917Albinism, Ocular1ORPHANET
HgeneAP3D1C0079504Hermanski-Pudlak Syndrome1CTD_human;GENOMICS_ENGLAND
HgeneAP3D1C4310746HERMANSKY-PUDLAK SYNDROME 101GENOMICS_ENGLAND
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0040411Tongue Neoplasms1CTD_human
TgeneC0153349Malignant neoplasm of tongue1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human