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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:TBC1D22A-AP3D1 (FusionGDB2 ID:89282)

Fusion Gene Summary for TBC1D22A-AP3D1

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D22A-AP3D1
Fusion gene ID: 89282
HgeneTgene
Gene symbol

TBC1D22A

AP3D1

Gene ID

25771

8943

Gene nameTBC1 domain family member 22Aadaptor related protein complex 3 subunit delta 1
SynonymsC22orf4|HSC79E021ADTD|HPS10|hBLVR
Cytomap

22q13.31

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 22Aputative GTPase activatorAP-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
Modification date2020031320200313
UniProtAcc.

O14617

Ensembl transtripts involved in fusion geneENST00000337137, ENST00000355704, 
ENST00000406733, ENST00000407381, 
ENST00000380995, ENST00000472791, 
ENST00000590683, ENST00000345016, 
ENST00000355272, ENST00000356926, 
ENST00000350812, 
Fusion gene scores* DoF score34 X 18 X 14=856812 X 12 X 8=1152
# samples 3713
** MAII scorelog2(37/8568*10)=-4.53336130423394
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/1152*10)=-3.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D22A [Title/Abstract] AND AP3D1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBC1D22A(47433094)-AP3D1(2102267), # samples:3
Anticipated loss of major functional domain due to fusion event.TBC1D22A-AP3D1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TBC1D22A-AP3D1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across TBC1D22A (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 AP3D1 (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 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
ChimerDB4UCSTCGA-NA-A4R1-01ATBC1D22Achr22

47433094

-AP3D1chr19

2102267

-
ChimerDB4UCSTCGA-NA-A4R1-01ATBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
ChimerDB4UCSTCGA-NA-A4R1TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-


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Fusion Gene ORF analysis for TBC1D22A-AP3D1

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-intronENST00000337137ENST00000590683TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
5CDS-intronENST00000355704ENST00000590683TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
5CDS-intronENST00000406733ENST00000590683TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
5CDS-intronENST00000407381ENST00000590683TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000337137ENST00000345016TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000337137ENST00000355272TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000337137ENST00000356926TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000355704ENST00000345016TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000355704ENST00000355272TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000355704ENST00000356926TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000406733ENST00000345016TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000406733ENST00000355272TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000406733ENST00000356926TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000407381ENST00000345016TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000407381ENST00000355272TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
Frame-shiftENST00000407381ENST00000356926TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
In-frameENST00000337137ENST00000350812TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
In-frameENST00000355704ENST00000350812TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
In-frameENST00000406733ENST00000350812TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
In-frameENST00000407381ENST00000350812TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000380995ENST00000345016TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000380995ENST00000350812TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000380995ENST00000355272TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000380995ENST00000356926TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000472791ENST00000345016TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000472791ENST00000350812TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000472791ENST00000355272TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-3CDSENST00000472791ENST00000356926TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-intronENST00000380995ENST00000590683TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-
intron-intronENST00000472791ENST00000590683TBC1D22Achr22

47433094

+AP3D1chr19

2102267

-

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)
ENST00000337137TBC1D22Achr2247433094+ENST00000350812AP3D1chr192102267-276814951661590474
ENST00000407381TBC1D22Achr2247433094+ENST00000350812AP3D1chr192102267-254012671151362415
ENST00000355704TBC1D22Achr2247433094+ENST00000350812AP3D1chr192102267-247412011061296396
ENST00000406733TBC1D22Achr2247433094+ENST00000350812AP3D1chr192102267-284915762411671476

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
ENST00000337137ENST00000350812TBC1D22Achr2247433094+AP3D1chr192102267-0.0056169670.994383
ENST00000407381ENST00000350812TBC1D22Achr2247433094+AP3D1chr192102267-0.0025124130.99748755
ENST00000355704ENST00000350812TBC1D22Achr2247433094+AP3D1chr192102267-0.0039061090.9960939
ENST00000406733ENST00000350812TBC1D22Achr2247433094+AP3D1chr192102267-0.0066905380.9933095

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Fusion Genomic Features for TBC1D22A-AP3D1


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

check buttonDistribution 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 TBC1D22A-AP3D1


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/chr22:47433094/chr19:2102267)
- 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

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: 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}.

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
HgeneTBC1D22Achr22:47433094chr19:2102267ENST00000337137+1113222_446443518.0DomainRab-GAP TBC

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBC1D22Achr22:47433094chr19:2102267ENST00000355704+911222_446365440.0DomainRab-GAP TBC
HgeneTBC1D22Achr22:47433094chr19:2102267ENST00000380995+19222_4460325.0DomainRab-GAP TBC
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830659_67911221154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830725_75611221154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830845_86911221154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032659_67911841216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032725_75611841216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032845_86911841216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830828_89311221154.0Compositional biasNote=Lys-rich
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032828_89311841216.0Compositional biasNote=Lys-rich
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830142_17911221154.0RepeatNote=HEAT 3
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830180_21611221154.0RepeatNote=HEAT 4
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830254_29211221154.0RepeatNote=HEAT 5
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830299_33611221154.0RepeatNote=HEAT 6
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830338_37311221154.0RepeatNote=HEAT 7
TgeneAP3D1chr22:47433094chr19:2102267ENST00000345016283034_7111221154.0RepeatNote=HEAT 1
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830375_40911221154.0RepeatNote=HEAT 8
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830431_46811221154.0RepeatNote=HEAT 9
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830497_53511221154.0RepeatNote=HEAT 10
TgeneAP3D1chr22:47433094chr19:2102267ENST000003450162830548_58511221154.0RepeatNote=HEAT 11
TgeneAP3D1chr22:47433094chr19:2102267ENST00000345016283077_11411221154.0RepeatNote=HEAT 2
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032142_17911841216.0RepeatNote=HEAT 3
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032180_21611841216.0RepeatNote=HEAT 4
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032254_29211841216.0RepeatNote=HEAT 5
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032299_33611841216.0RepeatNote=HEAT 6
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032338_37311841216.0RepeatNote=HEAT 7
TgeneAP3D1chr22:47433094chr19:2102267ENST00000355272303234_7111841216.0RepeatNote=HEAT 1
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032375_40911841216.0RepeatNote=HEAT 8
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032431_46811841216.0RepeatNote=HEAT 9
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032497_53511841216.0RepeatNote=HEAT 10
TgeneAP3D1chr22:47433094chr19:2102267ENST000003552723032548_58511841216.0RepeatNote=HEAT 11
TgeneAP3D1chr22:47433094chr19:2102267ENST00000355272303277_11411841216.0RepeatNote=HEAT 2


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Fusion Gene Sequence for TBC1D22A-AP3D1


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.
>89282_89282_1_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000337137_AP3D1_chr19_2102267_ENST00000350812_length(transcript)=2768nt_BP=1495nt
GCGCGTAGGCACAACTTCCGGAAGGAGGCGGAAGAGCTTCTCGGCTCTAGGCTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCA
CAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGG
GGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCC
ACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGA
GAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCAT
GGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAG
GCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAG
TGCCAGCGATGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCT
CAGCAGCTCAGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATT
ACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCG
GAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGA
CACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGAT
CTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTG
TGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTG
GTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACT
CGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCT
GCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAG
TGACTCCACGCTACTGAGCAACTTGTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCG
CGGAGCACGTACCCAGGGACCGCAGCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACT
CTATGTTGTCCGCCGTGTAGACATCCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTT
TGGCAAGAAGTCCCCTTCTCGCCCCCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTG
AATGTGGCTTCAGGGGCTCCTGTCCTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCC
TCCTCTGGGGTCGCCTGCTTTTGACCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTC
TCCCAGAACCCACAGTGGGAAAGCGGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAG
GCCACGCGCCAGCCAGGCTGTGGGCAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCC
TCTCTGCCACCCGTCTTCCTGGTCAGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCA
AGGTTTCCCCACATCCTTCCCAGCACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTG
TGCCCAGTGCCCTTGGGCAGGACCTGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCAC
GGCCAGCGTGGGCACAGGACTGACCCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAAT
CCATTACAGAATCCCATGCAGTGATTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAA

>89282_89282_1_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000337137_AP3D1_chr19_2102267_ENST00000350812_length(amino acids)=474AA_BP=442
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLN
SEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGGTS
DPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSRND
EVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCNIE
ADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQGENSVSV

--------------------------------------------------------------
>89282_89282_2_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000355704_AP3D1_chr19_2102267_ENST00000350812_length(transcript)=2474nt_BP=1201nt
CCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCGCGGGTCTGA
GGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGTTTGCTCAGGTC
CACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGC
TGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAA
CCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCC
CAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAGGAATTACGGAGGTTGAGCTGGTCCGGAAT
CCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAA
ACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGA
CATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCA
CCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGT
GGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGG
CATTCAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGT
GCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCG
TTGTACCATCCGCCTGTGGGACACCTACCAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTT
GTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCA
GCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACAT
CCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCC
CCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTC
CTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGA
CCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGC
GGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGG
CAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTC
AGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGC
ACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACC
TGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGAC
CCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGA
TTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTG

>89282_89282_2_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000355704_AP3D1_chr19_2102267_ENST00000350812_length(amino acids)=396AA_BP=364
MASDGARKQFWKRSNSKLPGSLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLNSEVVMETANRVLRNHSQRQ
GRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYF
AFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDV
SGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRL

--------------------------------------------------------------
>89282_89282_3_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000406733_AP3D1_chr19_2102267_ENST00000350812_length(transcript)=2849nt_BP=1576nt
AGAAGTCTGTGCCCTTACCCATCACAGCCTCATCCTTATCTCCTCCATTCCCTAGGGGACTTAACAGGTGTTGAAATTATTACAGAGAAA
GCTGACTCACTCACCAGGAATCTGATCCTGCTGTGGGCTGGCTTGGGTGGAGGTGTTCCTCCCGCCCCCGCACCCATCCTCCTGTTTGAA
CTCAGGCTGCTGCCTGCTGGGCCTGCCTGCCCTTGGAGCCCTGCTGAGCTCAGCCTGAGGCCTGGCTCCTCCAGGCTGGGGGAAAACCAG
GCTTGCTGTGCTCGGCAGCAGAGATTCTTCTGGAGTGAGCATCCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACA
TGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACCAGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATAC
CAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCTGGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGC
CAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCCCACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGC
AGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAAGTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAAAGTGCCAGCGA
TGCCGCCCCTCTGCAGAGGTCCCAGTCTCTCCCACACTCGGCCACCGTCACGCTGGGTGGCACATCTGACCCCAGCACTCTCAGCAGCTC
AGCGCTGAGCGAAAGAGAGGCCTCCCGGCTCGACAAGTTCAAGCAGCTGCTTGCCGGCCCCAACACGGACCTTGAGGAATTACGGAGGTT
GAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGACGTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGC
CACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTATTGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAG
GCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGCGTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCAT
ATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGGTATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACAT
AGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGTGCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAG
CAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGCCCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCG
GATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGAAGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCTGCTGATGAG
GGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACACCTACCAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCAC
GCTACTGAGCAACTTGTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACG
TACCCAGGGACCGCAGCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGT
CCGCCGTGTAGACATCCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAA
GTCCCCTTCTCGCCCCCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCT
TCAGGGGCTCCTGTCCTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGG
GTCGCCTGCTTTTGACCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAAC
CCACAGTGGGAAAGCGGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGC
CAGCCAGGCTGTGGGCAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCA
CCCGTCTTCCTGGTCAGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCC
CACATCCTTCCCAGCACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTG
CCCTTGGGCAGGACCTGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGT
GGGCACAGGACTGACCCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAG
AATCCCATGCAGTGATTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGA

>89282_89282_3_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000406733_AP3D1_chr19_2102267_ENST00000350812_length(amino acids)=476AA_BP=444
MAPPGWGKTRLAVLGSRDSSGVSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAES
LNSEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAESASDAAPLQRSQSLPHSATVTLGG
TSDPSTLSSSALSEREASRLDKFKQLLAGPNTDLEELRRLSWSGIPKPVRPMTWKLLSGYLPANVDRRPATLQRKQKEYFAFIEHYYDSR
NDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPFFVVFICEYIEAEEVDTVDVSGVPAEVLCN
IEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAFRWMNNLLMREVPLRCTIRLWDTYQGENSV

--------------------------------------------------------------
>89282_89282_4_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000407381_AP3D1_chr19_2102267_ENST00000350812_length(transcript)=2540nt_BP=1267nt
CTCTGGAGTCCCGGGAGCAGTGAGGGGCCACCCGGGGCACAGGAAAGGGCCGCTAGGGGAGGGCCGGGTGCACTCGGGGTGTCTGGGCCG
CGGGTCTGAGGGATGAGGAGGGGCCATGGCCAGCGACGGGGCCAGGAAGCAATTCTGGAAGCGCAGCAACAGCAAGCTCCCGGGCAGCAT
CCAGCACGTGTATGGTGCCCAGCACCCCCCCTTTGATCCACTGTTACATGGCACTTTGCTCAGGTCCACGGCCAAGATGCCGACCACACC
AGTGAAGGCCAAGAGGGTCAGCACCTTCCAGGAGTTTGAGAGCAATACCAGCGATGCCTGGGACGCTGGGGAGGACGACGATGAGCTCCT
GGCCATGGCGGCGGAGAGCCTGAACTCCGAGGTGGTCATGGAGACGGCCAACCGTGTGCTGCGTAACCACAGCCAGCGGCAGGGGCGGCC
CACGCTGCAGGAGGGGCCAGGGCTTCAGCAGAAGCCCAGGCCCGAGGCAGAGCCGCCCTCACCCCCCAGCGGCGACCTCCGGCTGGTGAA
GTCGGTCAGTGAGAGCCACACGTCCTGTCCTGCAGAGGAATTACGGAGGTTGAGCTGGTCCGGAATCCCTAAGCCAGTGCGTCCAATGAC
GTGGAAGCTCCTCTCAGGTTACCTTCCCGCCAATGTAGACCGGAGACCAGCCACTCTCCAGAGAAAACAAAAAGAATATTTTGCATTTAT
TGAGCACTATTACGATTCTAGGAACGACGAAGTTCACCAGGACACATACAGGCAGATCCACATAGACATCCCTCGCATGAGCCCTGAAGC
GTTGATCCTGCAGCCCAAGGTGACGGAGATTTTTGAAAGGATCTTGTTCATATGGGCGATCCGCCACCCAGCCAGTGGATACGTTCAGGG
TATAAATGATCTCGTCACTCCTTTCTTTGTGGTCTTCATTTGTGAATACATAGAGGCAGAGGAGGTGGACACGGTGGACGTCTCCGGCGT
GCCCGCAGAGGTGCTGTGCAACATCGAGGCCGACACCTACTGGTGCATGAGCAAGCTGCTGGATGGCATTCAGGACAACTACACCTTTGC
CCAACCTGGGATTCAAATGAAAGTGAAAATGTTAGAAGAACTCGTGAGCCGGATTGATGAGCAAGTGCACCGGCACCTGGACCAACACGA
AGTGAGATACCTGCAGTTTGCCTTCCGCTGGATGAACAACCTGCTGATGAGGGAGGTGCCCCTGCGTTGTACCATCCGCCTGTGGGACAC
CTACCAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTTGTTAGAAGAGATGAAGGCGACGCT
GGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCAGCCCTGACGTGTCTCGCCTCTCCT
CAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACATCCGAGGTCATTTGTTGCGTTGAAT
TATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCCCCAAACCAGCAAGGGACTCCCCCA
CCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTCCTGGGCCAGGGCCTGATGGGCACC
ACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGACCCAAAGGTCCTGACGGTTGCGTC
CGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGCGGTCTTGCCAGGCGTTGTCCATTG
TCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGGCAGGGCGGGGCCAGGGACGCCAAA
GAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTCAGCAGAAGTGCATCTCGGCTTGGG
TTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGCACCCTTAGGAAGGCCCAGGCAGGG
CCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACCTGTGAGAGCCACCTCACAGGCAGA
GCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGACCCTTCTTCAGAGATAATGACATTT
TATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGATTCCAGGATTTGAAATTGTATGAT
GTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTGTCATGATTTTGTGTCAAGATGATC

>89282_89282_4_TBC1D22A-AP3D1_TBC1D22A_chr22_47433094_ENST00000407381_AP3D1_chr19_2102267_ENST00000350812_length(amino acids)=415AA_BP=383
MASDGARKQFWKRSNSKLPGSIQHVYGAQHPPFDPLLHGTLLRSTAKMPTTPVKAKRVSTFQEFESNTSDAWDAGEDDDELLAMAAESLN
SEVVMETANRVLRNHSQRQGRPTLQEGPGLQQKPRPEAEPPSPPSGDLRLVKSVSESHTSCPAEELRRLSWSGIPKPVRPMTWKLLSGYL
PANVDRRPATLQRKQKEYFAFIEHYYDSRNDEVHQDTYRQIHIDIPRMSPEALILQPKVTEIFERILFIWAIRHPASGYVQGINDLVTPF
FVVFICEYIEAEEVDTVDVSGVPAEVLCNIEADTYWCMSKLLDGIQDNYTFAQPGIQMKVKMLEELVSRIDEQVHRHLDQHEVRYLQFAF

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

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Fusion Gene PPI Analysis for TBC1D22A-AP3D1


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 TBC1D22A-AP3D1


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 TBC1D22A-AP3D1


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