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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:AP3D1-AQP3 (FusionGDB2 ID:5273)

Fusion Gene Summary for AP3D1-AQP3

Fusion gene summary

Fusion gene information	Fusion gene name: AP3D1-AQP3
	Fusion gene ID: 5273
		Hgene	Tgene
	Gene symbol	AP3D1	AQP3
	Gene ID	8943	360
	Gene name	adaptor related protein complex 3 subunit delta 1	aquaporin 3 (Gill blood group)
	Synonyms	ADTD\|HPS10\|hBLVR	AQP-3\|GIL
	Cytomap	19p13.3	9p13.3
	Type of gene	protein-coding	protein-coding
	Description	AP-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-3	aquaporin-3aquaglyceroporin-3aquaporin 3 (GIL blood group)
	Modification date	20200313	20200329
	UniProtAcc	O14617	Q92482
	Ensembl transtripts involved in fusion gene	ENST00000345016, ENST00000350812, ENST00000355272, ENST00000356926, ENST00000590683,	ENST00000493581, ENST00000297991,
Fusion gene scores	* DoF score	16 X 16 X 10=2560	3 X 2 X 3=18
	# samples	19	3
	** MAII score	log2(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 breakpoint	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 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	AQP3	GO:0002684	positive regulation of immune system process	17943189
Tgene	AQP3	GO:0006833	water transport	30420639
Tgene	AQP3	GO:0015793	glycerol transport	30420639
Tgene	AQP3	GO:0032526	response to retinoic acid	17943189
Tgene	AQP3	GO:0071456	cellular response to hypoxia	24462679

Fusion 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.

Fusion 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.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	LIHC	TCGA-DD-A11D	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-

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Fusion Gene ORF analysis for AP3D1-AQP3

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-5UTR	ENST00000345016	ENST00000493581	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
5CDS-5UTR	ENST00000350812	ENST00000493581	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
5CDS-5UTR	ENST00000355272	ENST00000493581	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
5CDS-5UTR	ENST00000356926	ENST00000493581	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
Frame-shift	ENST00000350812	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
In-frame	ENST00000345016	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
In-frame	ENST00000355272	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
In-frame	ENST00000356926	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
intron-3CDS	ENST00000590683	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-
intron-5UTR	ENST00000590683	ENST00000493581	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)
ENST00000355272	AP3D1	chr19	2137009	-	ENST00000297991	AQP3	chr9	33443890	-	2221	561	90	1331	413
ENST00000356926	AP3D1	chr19	2137009	-	ENST00000297991	AQP3	chr9	33443890	-	2237	577	106	1347	413
ENST00000345016	AP3D1	chr19	2137009	-	ENST00000297991	AQP3	chr9	33443890	-	2246	586	115	1356	413

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000355272	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-	0.00179421	0.9982058
ENST00000356926	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-	0.001801454	0.99819857
ENST00000345016	ENST00000297991	AP3D1	chr19	2137009	-	AQP3	chr9	33443890	-	0.001818088	0.99818194

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Fusion Genomic Features for AP3D1-AQP3

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for AP3D1-AQP3

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

34_71

118

1154.0

Repeat

Note=HEAT 1

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

77_114

118

1154.0

Repeat

Note=HEAT 2

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

34_71

118

1216.0

Repeat

Note=HEAT 1

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

77_114

118

1216.0

Repeat

Note=HEAT 2

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

209_227

293.0

Intramembrane

Discontinuously helical

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

79_92

293.0

Intramembrane

Discontinuously helical

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

215_217

293.0

Motif

NPA 2

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

83_85

293.0

Motif

NPA 1

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

124_157

293.0

Topological domain

Extracellular

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

179_188

293.0

Topological domain

Cytoplasmic

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

228_244

293.0

Topological domain

Extracellular

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

266_292

293.0

Topological domain

Cytoplasmic

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

48_53

293.0

Topological domain

Extracellular

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

75_78

293.0

Topological domain

Cytoplasmic

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

93_98

293.0

Topological domain

Cytoplasmic

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

158_178

293.0

Transmembrane

Helical

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

189_208

293.0

Transmembrane

Helical

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

245_265

293.0

Transmembrane

Helical

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

54_74

293.0

Transmembrane

Helical

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

99_123

293.0

Transmembrane

Helical

- 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

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

659_679

118

1154.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

725_756

118

1154.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

845_869

118

1154.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

659_679

118

1216.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

725_756

118

1216.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

845_869

118

1216.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

828_893

118

1154.0

Compositional bias

Note=Lys-rich

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

828_893

118

1216.0

Compositional bias

Note=Lys-rich

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

142_179

118

1154.0

Repeat

Note=HEAT 3

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

180_216

118

1154.0

Repeat

Note=HEAT 4

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

254_292

118

1154.0

Repeat

Note=HEAT 5

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

299_336

118

1154.0

Repeat

Note=HEAT 6

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

338_373

118

1154.0

Repeat

Note=HEAT 7

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

375_409

118

1154.0

Repeat

Note=HEAT 8

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

431_468

118

1154.0

Repeat

Note=HEAT 9

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

497_535

118

1154.0

Repeat

Note=HEAT 10

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000345016

548_585

118

1154.0

Repeat

Note=HEAT 11

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

142_179

118

1216.0

Repeat

Note=HEAT 3

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

180_216

118

1216.0

Repeat

Note=HEAT 4

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

254_292

118

1216.0

Repeat

Note=HEAT 5

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

299_336

118

1216.0

Repeat

Note=HEAT 6

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

338_373

118

1216.0

Repeat

Note=HEAT 7

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

375_409

118

1216.0

Repeat

Note=HEAT 8

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

431_468

118

1216.0

Repeat

Note=HEAT 9

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

497_535

118

1216.0

Repeat

Note=HEAT 10

Hgene

AP3D1

chr19:2137009

chr9:33443890

ENST00000355272

548_585

118

1216.0

Repeat

Note=HEAT 11

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

1_26

293.0

Topological domain

Cytoplasmic

Tgene

AQP3

chr19:2137009

chr9:33443890

ENST00000297991

27_47

293.0

Transmembrane

Helical

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Fusion Gene Sequence for AP3D1-AQP3

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

>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(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

>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(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

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

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

Top

Fusion Gene PPI Analysis for AP3D1-AQP3

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for AP3D1-AQP3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for AP3D1-AQP3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source