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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:BSG-AP3D1 (FusionGDB2 ID:HG682TG8943)

Fusion Gene Summary for BSG-AP3D1

check button Fusion gene summary
Fusion gene informationFusion gene name: BSG-AP3D1
Fusion gene ID: hg682tg8943
HgeneTgene
Gene symbol

BSG

AP3D1

Gene ID

682

8943

Gene namebasigin (Ok blood group)adaptor related protein complex 3 subunit delta 1
Synonyms5F7|CD147|EMMPRIN|EMPRIN|OK|SLC7A11|TCSFADTD|HPS10|hBLVR
Cytomap('BSG')('AP3D1')

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionbasiginOK blood group antigencollagenase stimulatory factorextracellular matrix metalloproteinase inducerleukocyte activation antigen M6tumor cell-derived collagenase stimulatory factorAP-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 date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000333511, ENST00000353555, 
ENST00000346916, ENST00000545507, 
ENST00000574970, 
Fusion gene scores* DoF score26 X 17 X 12=530412 X 12 X 8=1152
# samples 2913
** MAII scorelog2(29/5304*10)=-4.19295597009765
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: BSG [Title/Abstract] AND AP3D1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBSG(572701)-AP3D1(2129456), # samples:1
Anticipated loss of major functional domain due to fusion event.BSG-AP3D1 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.
BSG-AP3D1 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.
BSG-AP3D1 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.
BSG-AP3D1 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.
* 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 BSG (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
* 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
ChimerDB4STADTCGA-D7-6822-01ABSGchr19

572701

+AP3D1chr19

2129456

-


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Fusion Gene ORF analysis for BSG-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-intronENST00000333511ENST00000345016BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000333511ENST00000350812BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000333511ENST00000356926BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000333511ENST00000590683BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000353555ENST00000345016BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000353555ENST00000350812BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000353555ENST00000356926BSGchr19

572701

+AP3D1chr19

2129456

-
5CDS-intronENST00000353555ENST00000590683BSGchr19

572701

+AP3D1chr19

2129456

-
In-frameENST00000333511ENST00000355272BSGchr19

572701

+AP3D1chr19

2129456

-
In-frameENST00000353555ENST00000355272BSGchr19

572701

+AP3D1chr19

2129456

-
intron-3CDSENST00000346916ENST00000355272BSGchr19

572701

+AP3D1chr19

2129456

-
intron-3CDSENST00000545507ENST00000355272BSGchr19

572701

+AP3D1chr19

2129456

-
intron-3CDSENST00000574970ENST00000355272BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000346916ENST00000345016BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000346916ENST00000350812BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000346916ENST00000356926BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000346916ENST00000590683BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000545507ENST00000345016BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000545507ENST00000350812BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000545507ENST00000356926BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000545507ENST00000590683BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000574970ENST00000345016BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000574970ENST00000350812BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000574970ENST00000356926BSGchr19

572701

+AP3D1chr19

2129456

-
intron-intronENST00000574970ENST00000590683BSGchr19

572701

+AP3D1chr19

2129456

-

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)
ENST00000333511BSGchr19572701+ENST00000355272AP3D1chr192129456-43721377031921040
ENST00000353555BSGchr19572701+ENST00000355272AP3D1chr192129456-43591245731791040

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
ENST00000333511ENST00000355272BSGchr19572701+AP3D1chr192129456-0.0051245210.9948755
ENST00000353555ENST00000355272BSGchr19572701+AP3D1chr192129456-0.0051720770.9948279

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Fusion Genomic Features for BSG-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

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Fusion Protein Features for BSG-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/chr19:572701/chr19:2129456)
- 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
..
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: 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}.

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
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530659_6791971154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530725_7561971154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530845_8691971154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532659_6791971216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532725_7561971216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532845_8691971216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530828_8931971154.0Compositional biasNote=Lys-rich
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532828_8931971216.0Compositional biasNote=Lys-rich
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530254_2921971154.0RepeatNote=HEAT 5
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530299_3361971154.0RepeatNote=HEAT 6
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530338_3731971154.0RepeatNote=HEAT 7
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530375_4091971154.0RepeatNote=HEAT 8
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530431_4681971154.0RepeatNote=HEAT 9
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530497_5351971154.0RepeatNote=HEAT 10
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530548_5851971154.0RepeatNote=HEAT 11
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532254_2921971216.0RepeatNote=HEAT 5
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532299_3361971216.0RepeatNote=HEAT 6
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532338_3731971216.0RepeatNote=HEAT 7
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532375_4091971216.0RepeatNote=HEAT 8
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532431_4681971216.0RepeatNote=HEAT 9
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532497_5351971216.0RepeatNote=HEAT 10
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532548_5851971216.0RepeatNote=HEAT 11

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBSGchr19:572701chr19:2129456ENST00000333511+19356_35922587.3333333333334Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr19:2129456ENST00000346916+17356_3590359.6666666666667Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr19:2129456ENST00000353555+18356_35922476.6666666666667Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr19:2129456ENST00000545507+18356_3590333.3333333333333Compositional biasNote=Poly-Asp
HgeneBSGchr19:572701chr19:2129456ENST00000333511+19138_21922587.3333333333334DomainIg-like C2-type
HgeneBSGchr19:572701chr19:2129456ENST00000333511+19221_31522587.3333333333334DomainIg-like V-type
HgeneBSGchr19:572701chr19:2129456ENST00000333511+1937_12022587.3333333333334DomainIg-like
HgeneBSGchr19:572701chr19:2129456ENST00000346916+17138_2190359.6666666666667DomainIg-like C2-type
HgeneBSGchr19:572701chr19:2129456ENST00000346916+17221_3150359.6666666666667DomainIg-like V-type
HgeneBSGchr19:572701chr19:2129456ENST00000346916+1737_1200359.6666666666667DomainIg-like
HgeneBSGchr19:572701chr19:2129456ENST00000353555+18138_21922476.6666666666667DomainIg-like C2-type
HgeneBSGchr19:572701chr19:2129456ENST00000353555+18221_31522476.6666666666667DomainIg-like V-type
HgeneBSGchr19:572701chr19:2129456ENST00000353555+1837_12022476.6666666666667DomainIg-like
HgeneBSGchr19:572701chr19:2129456ENST00000545507+18138_2190333.3333333333333DomainIg-like C2-type
HgeneBSGchr19:572701chr19:2129456ENST00000545507+18221_3150333.3333333333333DomainIg-like V-type
HgeneBSGchr19:572701chr19:2129456ENST00000545507+1837_1200333.3333333333333DomainIg-like
HgeneBSGchr19:572701chr19:2129456ENST00000333511+19138_32322587.3333333333334Topological domainExtracellular
HgeneBSGchr19:572701chr19:2129456ENST00000333511+19345_38522587.3333333333334Topological domainCytoplasmic
HgeneBSGchr19:572701chr19:2129456ENST00000346916+17138_3230359.6666666666667Topological domainExtracellular
HgeneBSGchr19:572701chr19:2129456ENST00000346916+17345_3850359.6666666666667Topological domainCytoplasmic
HgeneBSGchr19:572701chr19:2129456ENST00000353555+18138_32322476.6666666666667Topological domainExtracellular
HgeneBSGchr19:572701chr19:2129456ENST00000353555+18345_38522476.6666666666667Topological domainCytoplasmic
HgeneBSGchr19:572701chr19:2129456ENST00000545507+18138_3230333.3333333333333Topological domainExtracellular
HgeneBSGchr19:572701chr19:2129456ENST00000545507+18345_3850333.3333333333333Topological domainCytoplasmic
HgeneBSGchr19:572701chr19:2129456ENST00000333511+19324_34422587.3333333333334TransmembraneHelical
HgeneBSGchr19:572701chr19:2129456ENST00000346916+17324_3440359.6666666666667TransmembraneHelical
HgeneBSGchr19:572701chr19:2129456ENST00000353555+18324_34422476.6666666666667TransmembraneHelical
HgeneBSGchr19:572701chr19:2129456ENST00000545507+18324_3440333.3333333333333TransmembraneHelical
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530142_1791971154.0RepeatNote=HEAT 3
TgeneAP3D1chr19:572701chr19:2129456ENST00000345016530180_2161971154.0RepeatNote=HEAT 4
TgeneAP3D1chr19:572701chr19:2129456ENST0000034501653034_711971154.0RepeatNote=HEAT 1
TgeneAP3D1chr19:572701chr19:2129456ENST0000034501653077_1141971154.0RepeatNote=HEAT 2
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532142_1791971216.0RepeatNote=HEAT 3
TgeneAP3D1chr19:572701chr19:2129456ENST00000355272532180_2161971216.0RepeatNote=HEAT 4
TgeneAP3D1chr19:572701chr19:2129456ENST0000035527253234_711971216.0RepeatNote=HEAT 1
TgeneAP3D1chr19:572701chr19:2129456ENST0000035527253277_1141971216.0RepeatNote=HEAT 2


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Fusion Gene Sequence for BSG-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.
>10379_10379_1_BSG-AP3D1_BSG_chr19_572701_ENST00000333511_AP3D1_chr19_2129456_ENST00000355272_length(transcript)=4372nt_BP=137nt
GCTTTTTATAGCGGCCGCGGGCGGCGGCGGCAGCGGTTGGAGGTTGTAGGACCGGCGAGGAATAGGAATCATGGCGGCTGCGCTGTTCGT
GCTGCTGGGATTCGCGCTGCTGGGCACCCACGGAGCCTCCGGGGCTGGGGTTCAGTCGGCTGCCGTCAATGTCATCTGCGAGCTGGCCAG
ACGCAACCCTAAGAACTACCTGTCCCTGGCCCCGCTCTTTTTCAAGCTGATGACGTCCTCCACCAACAACTGGGTCCTCATCAAGATCAT
CAAGCTGTTCGGTGCTCTTACTCCTTTGGAACCGCGGCTGGGCAAGAAGCTGATCGAGCCCCTCACCAATCTCATCCACAGCACGTCTGC
CATGTCTCTCCTCTATGAATGTGTGAACACCGTGATTGCAGTGCTCATCTCGCTGTCCTCCGGCATGCCCAACCACAGCGCCAGCATCCA
GCTTTGTGTTCAGAAATTAAGGATATTGATCGAGGACTCCGATCAGAACTTGAAGTACCTGGGGCTGCTGGCAATGTCCAAGATCCTGAA
GACCCACCCCAAGTCCGTGCAGTCCCACAAGGACCTCATCCTGCAGTGCCTGGACGACAAGGACGAGTCCATCCGGCTGCGGGCCCTGGA
CCTGCTCTATGGGATGGTGTCCAAGAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTAGACAAGGCAGAGGGTACCACCTA
CCGTGACGAGCTGCTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAACTTCGAGTGGTACATCAGCATCCT
GGTGGAGCTGACCCGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTGGCCATCCGCGTGAAGGCCATCCG
CAAGTTCGCCGTGTCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAGCGGAACGGGATCTGTGAGGTGCT
GTACGCTGCCGCCTGGATCTGCGGGGAGTTCTCAGAGCATCTGCAGGAACCACACCACACTTTGGAGGCCATGCTGCGGCCCAGAGTCAC
CACGCTGCCAGGCCACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTGCAGCAGAAGGAGCAGGCCGGGGA
GGCAGAGGGCGCTCAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCAGACCTGGAGGTGCAGGAGCGGGC
GTCCTGCATCCTGCAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAGGAGGTCAGCGCTCTCTTTGCTGG
GGAGCTGAACCCAGTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGGCCTGGACCTGGACGCCTGGATCAATGAGCCACTCTC
GGACAGCGAGTCAGAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAGCACCGGCCGTCGGAGGCGGACGA
GGAAGAGCTGGCTCGGCGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAGAGCTCGCCATCGCCACAGAAGCG
GTACCAGGACACCCCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAGGTTCCAGGGCTGCCTATGTCAGA
TCAGTATGTGAAGCTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAAAAGAGGAAGGAGAAGGAGAAGAA
GGGCAAGCGCCGCCACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTGGACATCGTCACAGAGGAGATGCC
TGAGAATGCTCTGCCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATTGACCTGGATAAGCCCTTAGCCGA
CAGCGAGAAACTGCCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTTCCCATGGTAGAAAAGAAGAGCAA
GAAACCCAAGAAGAAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAGGAGAAGAAGGCTGAGGACCTGGA
CTTCTGGCTGTCTACCACCCCACCGCCTGCCCCCGCCCCCGCCCCCGCCCCCGTTCCATCCACGGGGGAGCTCAGTGTGAACACTGTCAC
TACCCCGAAGGACGAGTGTGAGGACGCCAAGACGGAGGCGCAGGGCGAGGAGGACGATGCCGAGGGGCAAGACCAGGACAAGAAATCTCC
CAAGCCTAAGAAGAAGAAGCACAGGAAGGAGAAGGAGGAGCGGACCAAAGGCAAGAAGAAGTCCAAGAAGCAGCCTCCAGGCAGCGAGGA
GGCAGCGGGGGAGCCGGTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTCCCGCCTGAGTCCAGCTACTCCCTCCTCGCTGAAAATTCCTA
TGTTAAAATGACCTGTGACATCCGGGGCAGTCTGCAGGAGGACAGCCAGGTCACTGTGGCCATCGTGCTGGAGAACAGGAGCAGCAGCAT
CCTCAAGGGCATGGAGCTCAGCGTGCTGGACTCACTCAATGCCAGGATGGCCCGGCCGCAGGGCTCCTCCGTCCACGATGGCGTCCCCGT
GCCTTTCCAGCTGCCCCCAGGCGTCTCCAACGAAGCCCAGTATGTGTTCACCATCCAGAGCATCGTCATGGCGCAGAAGCTCAAGGGGAC
CCTGTCCTTCATTGCCAAGAATGACGAGGGTGCGACCCACGAGAAGCTGGACTTCAGGCTGCACTTCAGCTGCAGCTCCTACTTGATCAC
CACTCCCTGCTACAGTGACGCCTTTGCTAAGTTGCTGGAGTCTGGGGACTTGAGCATGAGCTCAATCAAAGTCGATGGCATTCGGATGTC
CTTCCAGAATCTTCTGGCGAAGATCTGTTTTCACCACCATTTTTCCGTTGTGGAGCGAGTGGACTCCTGCGCCTCCATGTACAGCCGCTC
CATCCAGGGCCACCATGTCTGCCTCCTGGTGAAAAAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAG
CAACTTGTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGG
ACCGCAGCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGT
AGACATCCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTC
TCGCCCCCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCT
CCTGTCCTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGC
TTTTGACCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGG
GAAAGCGGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGC
TGTGGGCAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTC
CTGGTCAGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTT
CCCAGCACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGC
AGGACCTGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGG
ACTGACCCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATG
CAGTGATTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACG

>10379_10379_1_BSG-AP3D1_BSG_chr19_572701_ENST00000333511_AP3D1_chr19_2129456_ENST00000355272_length(amino acids)=1040AA_BP=17
MAAALFVLLGFALLGTHGASGAGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTN
LIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDES
IRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVA
IRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQ
QKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDA
WINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKV
PGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDID
LDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAPAPVPSTGE
LSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYS
LLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVM
AQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSC

--------------------------------------------------------------
>10379_10379_2_BSG-AP3D1_BSG_chr19_572701_ENST00000353555_AP3D1_chr19_2129456_ENST00000355272_length(transcript)=4359nt_BP=124nt
GCCGCGGGCGGCGGCGGCAGCGGTTGGAGGTTGTAGGACCGGCGAGGAATAGGAATCATGGCGGCTGCGCTGTTCGTGCTGCTGGGATTC
GCGCTGCTGGGCACCCACGGAGCCTCCGGGGCTGGGGTTCAGTCGGCTGCCGTCAATGTCATCTGCGAGCTGGCCAGACGCAACCCTAAG
AACTACCTGTCCCTGGCCCCGCTCTTTTTCAAGCTGATGACGTCCTCCACCAACAACTGGGTCCTCATCAAGATCATCAAGCTGTTCGGT
GCTCTTACTCCTTTGGAACCGCGGCTGGGCAAGAAGCTGATCGAGCCCCTCACCAATCTCATCCACAGCACGTCTGCCATGTCTCTCCTC
TATGAATGTGTGAACACCGTGATTGCAGTGCTCATCTCGCTGTCCTCCGGCATGCCCAACCACAGCGCCAGCATCCAGCTTTGTGTTCAG
AAATTAAGGATATTGATCGAGGACTCCGATCAGAACTTGAAGTACCTGGGGCTGCTGGCAATGTCCAAGATCCTGAAGACCCACCCCAAG
TCCGTGCAGTCCCACAAGGACCTCATCCTGCAGTGCCTGGACGACAAGGACGAGTCCATCCGGCTGCGGGCCCTGGACCTGCTCTATGGG
ATGGTGTCCAAGAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTAGACAAGGCAGAGGGTACCACCTACCGTGACGAGCTG
CTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAACTTCGAGTGGTACATCAGCATCCTGGTGGAGCTGACC
CGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTGGCCATCCGCGTGAAGGCCATCCGCAAGTTCGCCGTG
TCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAGCGGAACGGGATCTGTGAGGTGCTGTACGCTGCCGCC
TGGATCTGCGGGGAGTTCTCAGAGCATCTGCAGGAACCACACCACACTTTGGAGGCCATGCTGCGGCCCAGAGTCACCACGCTGCCAGGC
CACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTGCAGCAGAAGGAGCAGGCCGGGGAGGCAGAGGGCGCT
CAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCAGACCTGGAGGTGCAGGAGCGGGCGTCCTGCATCCTG
CAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAGGAGGTCAGCGCTCTCTTTGCTGGGGAGCTGAACCCA
GTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGGCCTGGACCTGGACGCCTGGATCAATGAGCCACTCTCGGACAGCGAGTCA
GAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAGCACCGGCCGTCGGAGGCGGACGAGGAAGAGCTGGCT
CGGCGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAGAGCTCGCCATCGCCACAGAAGCGGTACCAGGACACC
CCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAGGTTCCAGGGCTGCCTATGTCAGATCAGTATGTGAAG
CTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAAAAGAGGAAGGAGAAGGAGAAGAAGGGCAAGCGCCGC
CACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTGGACATCGTCACAGAGGAGATGCCTGAGAATGCTCTG
CCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATTGACCTGGATAAGCCCTTAGCCGACAGCGAGAAACTG
CCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTTCCCATGGTAGAAAAGAAGAGCAAGAAACCCAAGAAG
AAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAGGAGAAGAAGGCTGAGGACCTGGACTTCTGGCTGTCT
ACCACCCCACCGCCTGCCCCCGCCCCCGCCCCCGCCCCCGTTCCATCCACGGGGGAGCTCAGTGTGAACACTGTCACTACCCCGAAGGAC
GAGTGTGAGGACGCCAAGACGGAGGCGCAGGGCGAGGAGGACGATGCCGAGGGGCAAGACCAGGACAAGAAATCTCCCAAGCCTAAGAAG
AAGAAGCACAGGAAGGAGAAGGAGGAGCGGACCAAAGGCAAGAAGAAGTCCAAGAAGCAGCCTCCAGGCAGCGAGGAGGCAGCGGGGGAG
CCGGTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTCCCGCCTGAGTCCAGCTACTCCCTCCTCGCTGAAAATTCCTATGTTAAAATGACC
TGTGACATCCGGGGCAGTCTGCAGGAGGACAGCCAGGTCACTGTGGCCATCGTGCTGGAGAACAGGAGCAGCAGCATCCTCAAGGGCATG
GAGCTCAGCGTGCTGGACTCACTCAATGCCAGGATGGCCCGGCCGCAGGGCTCCTCCGTCCACGATGGCGTCCCCGTGCCTTTCCAGCTG
CCCCCAGGCGTCTCCAACGAAGCCCAGTATGTGTTCACCATCCAGAGCATCGTCATGGCGCAGAAGCTCAAGGGGACCCTGTCCTTCATT
GCCAAGAATGACGAGGGTGCGACCCACGAGAAGCTGGACTTCAGGCTGCACTTCAGCTGCAGCTCCTACTTGATCACCACTCCCTGCTAC
AGTGACGCCTTTGCTAAGTTGCTGGAGTCTGGGGACTTGAGCATGAGCTCAATCAAAGTCGATGGCATTCGGATGTCCTTCCAGAATCTT
CTGGCGAAGATCTGTTTTCACCACCATTTTTCCGTTGTGGAGCGAGTGGACTCCTGCGCCTCCATGTACAGCCGCTCCATCCAGGGCCAC
CATGTCTGCCTCCTGGTGAAAAAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTTGTTAGAA
GAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCAGCCCTGA
CGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACATCCGAGGT
CATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCCCCAAACC
AGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTCCTGGGCC
AGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGACCCAAAG
GTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGCGGTCTTG
CCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGGCAGGGCG
GGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTCAGCAGAA
GTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGCACCCTTA
GGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACCTGTGAGA
GCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGACCCTTCTT
CAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGATTCCAGG
ATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTGTCATGAT

>10379_10379_2_BSG-AP3D1_BSG_chr19_572701_ENST00000353555_AP3D1_chr19_2129456_ENST00000355272_length(amino acids)=1040AA_BP=17
MAAALFVLLGFALLGTHGASGAGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLGKKLIEPLTN
LIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQCLDDKDES
IRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLIAAQMLDVA
IRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVVKLYASILQ
QKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPVPEGLDLDA
WINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQIDLSVPLKV
PGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPNDPYRALDID
LDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAPAPVPSTGE
LSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYS
LLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVM
AQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSC

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

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Fusion Gene PPI Analysis for BSG-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 BSG-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 BSG-AP3D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBSGC0015697Arterial Fatty Streak1CTD_human
HgeneBSGC0027626Neoplasm Invasiveness1CTD_human
HgeneBSGC0027627Neoplasm Metastasis1CTD_human
HgeneBSGC0027659Neoplasms, Experimental1CTD_human
HgeneBSGC0264956Atheroma1CTD_human
HgeneBSGC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
HgeneBSGC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
HgeneBSGC2936350Plaque, Atherosclerotic1CTD_human
HgeneBSGC2936351Fibroatheroma1CTD_human
HgeneBSGC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
TgeneC0001916Albinism1GENOMICS_ENGLAND
TgeneC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
TgeneC0027947Neutropenia1GENOMICS_ENGLAND
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0078917Albinism, Ocular1ORPHANET
TgeneC0079504Hermanski-Pudlak Syndrome1CTD_human;GENOMICS_ENGLAND
TgeneC4310746HERMANSKY-PUDLAK SYNDROME 101GENOMICS_ENGLAND