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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:AP3B1-IPO11 (FusionGDB2 ID:HG8546TG51194)

Fusion Gene Summary for AP3B1-IPO11

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3B1-IPO11
Fusion gene ID: hg8546tg51194
HgeneTgene
Gene symbol

AP3B1

IPO11

Gene ID

8546

51194

Gene nameadaptor related protein complex 3 subunit beta 1importin 11
SynonymsADTB3|ADTB3A|HPS|HPS2|PERanBP11
Cytomap('AP3B1')('IPO11')

5q14.1

5q12.1

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit beta-1AP-3 complex beta-3A subunitadaptor protein complex AP-3 subunit beta-1adaptor related protein complex 3 beta 1 subunitbeta-3A-adaptinclathrin assembly protein complex 3 beta-1 large chainimportin-11Ran binding protein 11imp11ran-binding protein 11
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000255194, ENST00000519295, 
ENST00000523204, 
Fusion gene scores* DoF score10 X 12 X 6=7206 X 6 X 7=252
# samples 127
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP3B1 [Title/Abstract] AND IPO11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP3B1(77590276)-IPO11(61762958), # samples:3
Anticipated loss of major functional domain due to fusion event.AP3B1-IPO11 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.
AP3B1-IPO11 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 AP3B1 (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 IPO11 (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
ChimerDB4SKCMTCGA-D3-A51N-06AAP3B1chr5

77590276

-IPO11chr5

61762958

+


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Fusion Gene ORF analysis for AP3B1-IPO11

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-intronENST00000255194ENST00000409534AP3B1chr5

77590276

-IPO11chr5

61762958

+
5CDS-intronENST00000255194ENST00000512177AP3B1chr5

77590276

-IPO11chr5

61762958

+
In-frameENST00000255194ENST00000325324AP3B1chr5

77590276

-IPO11chr5

61762958

+
In-frameENST00000255194ENST00000409296AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-3CDSENST00000519295ENST00000325324AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-3CDSENST00000519295ENST00000409296AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-3CDSENST00000523204ENST00000325324AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-3CDSENST00000523204ENST00000409296AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-intronENST00000519295ENST00000409534AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-intronENST00000519295ENST00000512177AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-intronENST00000523204ENST00000409534AP3B1chr5

77590276

-IPO11chr5

61762958

+
intron-intronENST00000523204ENST00000512177AP3B1chr5

77590276

-IPO11chr5

61762958

+

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)
ENST00000255194AP3B1chr577590276-ENST00000325324IPO11chr561762958+39753043372715792
ENST00000255194AP3B1chr577590276-ENST00000409296IPO11chr561762958+31023043372715792

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
ENST00000255194ENST00000325324AP3B1chr577590276-IPO11chr561762958+0.0005308780.9994691
ENST00000255194ENST00000409296AP3B1chr577590276-IPO11chr561762958+0.0008191780.99918085

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Fusion Genomic Features for AP3B1-IPO11


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)
AP3B1chr577590275-IPO11chr561762957+4.19E-050.99995816
AP3B1chr577590275-IPO11chr561762957+4.19E-050.99995816

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.
genomic feature of top 1%

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Fusion Protein Features for AP3B1-IPO11


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/chr5:77590276/chr5:61762958)
- 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
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430209_248172976.0RepeatNote=HEAT 2
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430318_356172976.0RepeatNote=HEAT 3
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430422_459172976.0RepeatNote=HEAT 4
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430473_509172976.0RepeatNote=HEAT 5
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430511_548172976.0RepeatNote=HEAT 6
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430555_593172976.0RepeatNote=HEAT 7
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430600_636172976.0RepeatNote=HEAT 8
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430640_677172976.0RepeatNote=HEAT 9
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430683_720172976.0RepeatNote=HEAT 10
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430743_764172976.0RepeatNote=HEAT 11
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430765_804172976.0RepeatNote=HEAT 12
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430819_849172976.0RepeatNote=HEAT 13
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430850_887172976.0RepeatNote=HEAT 14
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430957_974172976.0RepeatNote=HEAT 15
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430209_2482121016.0RepeatNote=HEAT 2
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430318_3562121016.0RepeatNote=HEAT 3
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430422_4592121016.0RepeatNote=HEAT 4
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430473_5092121016.0RepeatNote=HEAT 5
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430511_5482121016.0RepeatNote=HEAT 6
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430555_5932121016.0RepeatNote=HEAT 7
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430600_6362121016.0RepeatNote=HEAT 8
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430640_6772121016.0RepeatNote=HEAT 9
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430683_7202121016.0RepeatNote=HEAT 10
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430743_7642121016.0RepeatNote=HEAT 11
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430765_8042121016.0RepeatNote=HEAT 12
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430819_8492121016.0RepeatNote=HEAT 13
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430850_8872121016.0RepeatNote=HEAT 14
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430957_9742121016.0RepeatNote=HEAT 15

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3B1chr5:77590276chr5:61762958ENST00000255194-127677_802421095.0Compositional biasNote=Glu/Ser-rich
TgeneIPO11chr5:77590276chr5:61762958ENST0000032532443028_100172976.0DomainImportin N-terminal
TgeneIPO11chr5:77590276chr5:61762958ENST0000040929643028_1002121016.0DomainImportin N-terminal
TgeneIPO11chr5:77590276chr5:61762958ENST00000325324430123_160172976.0RepeatNote=HEAT 1
TgeneIPO11chr5:77590276chr5:61762958ENST00000409296430123_1602121016.0RepeatNote=HEAT 1


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Fusion Gene Sequence for AP3B1-IPO11


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.
>5267_5267_1_AP3B1-IPO11_AP3B1_chr5_77590276_ENST00000255194_IPO11_chr5_61762958_ENST00000325324_length(transcript)=3975nt_BP=304nt
ACTGCGCATGCGCAGGGGGTGGACTGCCAGGTCGGCTCAGGGAGCCGTGACGAGTCCGGAAGCGCCTGCGCGCGCTCCTCCGTACGAGAA
CTAGTTTTGTTCCGTGCCCTCTGGACTGGAACCTTTTGGAGAGAACCCCCGGCAGGACCAACCCCGCACCCGCCAGCACCGCGGCAATGT
CCAGCAATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTGGGTCAGGAGGCGACCTCAACCATTTCCCCCTCGG
GGGCCTTCGGCCTCTTTAGCAGCGATTTGAAGAATTAGCTTCTGGAATTTATAATTTTGCCTGCTCTCTGTGGAATCACCACACAGACAC
ATTCCTGCAAGAAGTTTCTTCTGGCAATGAAGCTGCAATTTTGAGTTCACTAGAACGAACACTGCTATCATTGAAAGTGCTGCGTAAGTT
AACTGTTAATGGATTTGTGGAACCTCATAAGAATATGGAGGTGATGGGTTTTTTACATGGAATATTTGAACGTCTAAAACAGTTTCTGGA
ATGCAGTAGAAGTATAGGTACAGATAATGTGTGTAGAGATAGACTGGAAAAGACCATCATTCTTTTTACTAAAGTGCTTTTGGACTTCTT
GGATCAGCATCCTTTTTCATTTACTCCTCTAATTCAGAGATCACTGGAATTTTCTGTAAGCTATGTTTTTACAGAAGTTGGTGAAGGCGT
TACATTTGAACGATTCATTGTCCAATGTATGAATCTTATTAAGATGATTGTCAAAAATTATGCTTATAAGCCATCCAAAAATTTTGAAGA
TAGCAGCCCTGAAACTCTTGAAGCCCATAAGATTAAGATGGCATTCTTCACATATCCTACTTTGACAGAGATATGTAGAAGATTAGTCTC
TCATTATTTCCTATTAACTGAAGAAGAACTGACAATGTGGGAAGAAGACCCAGAAGGCTTTACAGTGGAAGAAACAGGAGGAGATTCTTG
GAAATATAGTTTGAGGCCATGCACTGAAGTATTATTTATAGATATATTCCATGAATATAATCAGACTCTTACTCCTGTACTTCTAGAAAT
GATGCAAACACTTCAAGGACCCACAAATGTGGAAGATATGAATGCACTGTTAATCAAAGATGCTGTGTATAATGCTGTTGGATTAGCTGC
TTATGAGCTCTTTGACAGTGTTGATTTTGATCAGTGGTTTAAAAACCAGCTTCTTCCAGAATTACAAGTCATTCACAATAGGTATAAGCC
ATTGCGACGCAGGGTGATTTGGCTCATCGGTCAGTGGATTTCTGTGAAATTCAAGTCTGACTTAAGACCCATGCTTTATGAAGCAATCTG
TAACTTGCTTCAAGATCAAGATTTAGTGGTCCGTATTGAAACAGCTACAACTTTGAAGTTAACTGTTGATGATTTTGAATTTAGAACAGA
TCAGTTTCTACCGTATTTGGAAACCATGTTCACACTACTTTTTCAGTTACTGCAGCAAGTTACAGAATGTGACACAAAGATGCATGTTTT
GCATGTCCTTTCTTGTGTGATCGAAAGAGTCAACATGCAGATACGACCATATGTGGGATGTTTGGTACAATATTTGCCCCTCCTTTGGAA
GCAGAGTGAAGAACACAATATGTTGAGATGTGCTATTTTGACAACACTTATTCATCTTGTTCAGGGATTAGGAGCAGACAGCAAGAACCT
GTACCCTTTCCTGCTCCCAGTTATTCAACTGAGTACAGATGTTTCACAGCCTCCACATGTTTATCTTCTGGAAGATGGTTTAGAATTATG
GTTAGTAACTTTGGAAAACAGTCCATGTATTACACCAGAGTTGCTTCGTATATTTCAGAATATGTCACCACTTCTTGAACTAAGTTCAGA
AAATCTTAGAACTTGCTTTAAGATCATCAATGGTTATATCTTTTTATCATCAACAGAATTTTTACAGACATACGCAGTAGGTCTATGCCA
GTCCTTTTGTGAACTTTTAAAGGAAATTACTACAGAAGGTCAAGTTCAGGTGCTCAAGGTTGTGGAAAATGCCCTTAAAGTGAACCCAAT
ACTAGGTCCACAAATGTTTCAACCGATTTTACCCTATGTTTTCAAGGGTATTATAGAAGGGGAGAGGTATCCTGTAGTGATGTCCACGTA
TCTTGGAGTTATGGGTCGAGTTCTACTACAAAACACTAGTTTTTTTTCTTCACTACTTAATGAGATGGCCCATAAATTTAATCAGGAGAT
GGACCAGCTTTTGGGAAATATGATTGAAATGTGGGTTGATCGAATGGACAACATTACCCAGCCTGAAAGAAGAAAACTTTCAGCTTTGGC
TTTGCTCTCTCTTCTGCCATCTGATAATAGTGTTATCCAAGATAAATTCTGTGGGATTATAAACATTTCAGTAGAAGGCCTGCATGATGT
CATGACGGAAGATCCTGAAACAGGAACTTATAAAGACTGTATGTTGATGTCTCATCTTGAGGAACCAAAAGTAACAGAAGATGAAGAACC
ACCCACAGAACAAGATAAGAGGAAAAAGATGCTGGCCCTGAAGGACCCTGTTCATACAGTGTCACTGCAGCAGTTCATCTACGAGAAGCT
CAAGGCACAGCAGGAGATGCTAGGAGAACAAGGTTTCCAGTCCCTCATGGAAACAGTGGATACGGAGATTGTCACCCAGCTACAGGAGTT
TTTGCAAGGATTCTAAGAGCACATGACATGTGGCTGCCTCCCCTTTCAGAAACAAGCTGAGTAACCCAGCCTGCCGTTTGTATGTGAGAG
CCTGCTGAGATGAAGAAATCACTTCATGAAAATAAGCAAAGACCACACATTTTTTACTACAAAATGTAAAGGATAAATGTAAATCCTGCA
TAACTAAAATCACAAACCTATTCCTCAAAAGAATTTAATTTTATATTTATGAGGGGGCCCTTCACTAAAAAGTACATGTAAAAGTACATT
TGATGACAATAGCTGCTTAGTTTCCTGTTAAGAGAAGAAACTTTATCTTTTAATTATGTGCTCTTAATATTTGAAGATGAGAGTTAATAC
CTGAGATGTTTTTCTGCAACCAAAATTCATTAAATTTGGCTGCCTTATCCTTTTTTTAAGCTAATGAAACTACAGGTTTGAAAAATGACA
AAGCTGTTCAGATGATGCTATTAAAGAAATGTGTGTACTAAGCAAAAATATATAAATAGTGACAAATACACATTACCAAGCTTATCTTGC
AAGGGAGTTATTTTCATCTAACATAGAAAGTGTGTTTTATCAGACAAATGCTTTTATTTTCATTCTAATAATTTGATACAGAAATTAGTA
AAGGCATTTTTTTCTTTTTTTTTCCAGTAAATACATTGGGTCTATAAATGTGCATTTGTAAGGGCCACAAAAGTGAACGTGTGGTACTGT
AGTACCACGTGGGAGACCTCTGGTTATGGTTTAGTCCTAGTTCCTTTGTTACTCCTGTGAGCACCGAGAAGAACTGGGCGACTCCCAGTC
CCACCTGTGCTGTGACAGTCCCACGTGGCTATGACAGACTGTTTAGTACTTACCCTTCTCAGGTTCCTCAGTGCAGGGGTGCATCAGGGC
CTCAATAATAGGGGTATACCTGGGAGGATCCAGCAGTAATCCCCAGGGTACTAGGATTACTAGTACTCTGATGGAACTAGTCTTCCTTCC
TTATTCCTCGAACATGCAGTACATAAAAAGGGGAAAAGGAGAAAAAAAAAGCCTTACTTTGTTTTACTTGCCATTTATTGTAAGGAAACT
TTAAAGCATTTTTTAGGAAATACTCAAAAGCAAGGTTGGAAAATGTTTTATCTTTCTATAGAAAGTTGGGTACAGTATGTAACTGCGGGA
AACCCACTGCCCCTTTGTAAGCTGTGGAACCCAAACTGTATGGGGATATTTGATGTTTTCAGAAAGAGGAAGAAAATATGGTCCAAATTA

>5267_5267_1_AP3B1-IPO11_AP3B1_chr5_77590276_ENST00000255194_IPO11_chr5_61762958_ENST00000325324_length(amino acids)=792AA_BP=
MWNHHTDTFLQEVSSGNEAAILSSLERTLLSLKVLRKLTVNGFVEPHKNMEVMGFLHGIFERLKQFLECSRSIGTDNVCRDRLEKTIILF
TKVLLDFLDQHPFSFTPLIQRSLEFSVSYVFTEVGEGVTFERFIVQCMNLIKMIVKNYAYKPSKNFEDSSPETLEAHKIKMAFFTYPTLT
EICRRLVSHYFLLTEEELTMWEEDPEGFTVEETGGDSWKYSLRPCTEVLFIDIFHEYNQTLTPVLLEMMQTLQGPTNVEDMNALLIKDAV
YNAVGLAAYELFDSVDFDQWFKNQLLPELQVIHNRYKPLRRRVIWLIGQWISVKFKSDLRPMLYEAICNLLQDQDLVVRIETATTLKLTV
DDFEFRTDQFLPYLETMFTLLFQLLQQVTECDTKMHVLHVLSCVIERVNMQIRPYVGCLVQYLPLLWKQSEEHNMLRCAILTTLIHLVQG
LGADSKNLYPFLLPVIQLSTDVSQPPHVYLLEDGLELWLVTLENSPCITPELLRIFQNMSPLLELSSENLRTCFKIINGYIFLSSTEFLQ
TYAVGLCQSFCELLKEITTEGQVQVLKVVENALKVNPILGPQMFQPILPYVFKGIIEGERYPVVMSTYLGVMGRVLLQNTSFFSSLLNEM
AHKFNQEMDQLLGNMIEMWVDRMDNITQPERRKLSALALLSLLPSDNSVIQDKFCGIINISVEGLHDVMTEDPETGTYKDCMLMSHLEEP

--------------------------------------------------------------
>5267_5267_2_AP3B1-IPO11_AP3B1_chr5_77590276_ENST00000255194_IPO11_chr5_61762958_ENST00000409296_length(transcript)=3102nt_BP=304nt
ACTGCGCATGCGCAGGGGGTGGACTGCCAGGTCGGCTCAGGGAGCCGTGACGAGTCCGGAAGCGCCTGCGCGCGCTCCTCCGTACGAGAA
CTAGTTTTGTTCCGTGCCCTCTGGACTGGAACCTTTTGGAGAGAACCCCCGGCAGGACCAACCCCGCACCCGCCAGCACCGCGGCAATGT
CCAGCAATAGTTTTCCTTACAATGAGCAGTCCGGAGGAGGGGAGGCGACGGAGCTGGGTCAGGAGGCGACCTCAACCATTTCCCCCTCGG
GGGCCTTCGGCCTCTTTAGCAGCGATTTGAAGAATTAGCTTCTGGAATTTATAATTTTGCCTGCTCTCTGTGGAATCACCACACAGACAC
ATTCCTGCAAGAAGTTTCTTCTGGCAATGAAGCTGCAATTTTGAGTTCACTAGAACGAACACTGCTATCATTGAAAGTGCTGCGTAAGTT
AACTGTTAATGGATTTGTGGAACCTCATAAGAATATGGAGGTGATGGGTTTTTTACATGGAATATTTGAACGTCTAAAACAGTTTCTGGA
ATGCAGTAGAAGTATAGGTACAGATAATGTGTGTAGAGATAGACTGGAAAAGACCATCATTCTTTTTACTAAAGTGCTTTTGGACTTCTT
GGATCAGCATCCTTTTTCATTTACTCCTCTAATTCAGAGATCACTGGAATTTTCTGTAAGCTATGTTTTTACAGAAGTTGGTGAAGGCGT
TACATTTGAACGATTCATTGTCCAATGTATGAATCTTATTAAGATGATTGTCAAAAATTATGCTTATAAGCCATCCAAAAATTTTGAAGA
TAGCAGCCCTGAAACTCTTGAAGCCCATAAGATTAAGATGGCATTCTTCACATATCCTACTTTGACAGAGATATGTAGAAGATTAGTCTC
TCATTATTTCCTATTAACTGAAGAAGAACTGACAATGTGGGAAGAAGACCCAGAAGGCTTTACAGTGGAAGAAACAGGAGGAGATTCTTG
GAAATATAGTTTGAGGCCATGCACTGAAGTATTATTTATAGATATATTCCATGAATATAATCAGACTCTTACTCCTGTACTTCTAGAAAT
GATGCAAACACTTCAAGGACCCACAAATGTGGAAGATATGAATGCACTGTTAATCAAAGATGCTGTGTATAATGCTGTTGGATTAGCTGC
TTATGAGCTCTTTGACAGTGTTGATTTTGATCAGTGGTTTAAAAACCAGCTTCTTCCAGAATTACAAGTCATTCACAATAGGTATAAGCC
ATTGCGACGCAGGGTGATTTGGCTCATCGGTCAGTGGATTTCTGTGAAATTCAAGTCTGACTTAAGACCCATGCTTTATGAAGCAATCTG
TAACTTGCTTCAAGATCAAGATTTAGTGGTCCGTATTGAAACAGCTACAACTTTGAAGTTAACTGTTGATGATTTTGAATTTAGAACAGA
TCAGTTTCTACCGTATTTGGAAACCATGTTCACACTACTTTTTCAGTTACTGCAGCAAGTTACAGAATGTGACACAAAGATGCATGTTTT
GCATGTCCTTTCTTGTGTGATCGAAAGAGTCAACATGCAGATACGACCATATGTGGGATGTTTGGTACAATATTTGCCCCTCCTTTGGAA
GCAGAGTGAAGAACACAATATGTTGAGATGTGCTATTTTGACAACACTTATTCATCTTGTTCAGGGATTAGGAGCAGACAGCAAGAACCT
GTACCCTTTCCTGCTCCCAGTTATTCAACTGAGTACAGATGTTTCACAGCCTCCACATGTTTATCTTCTGGAAGATGGTTTAGAATTATG
GTTAGTAACTTTGGAAAACAGTCCATGTATTACACCAGAGTTGCTTCGTATATTTCAGAATATGTCACCACTTCTTGAACTAAGTTCAGA
AAATCTTAGAACTTGCTTTAAGATCATCAATGGTTATATCTTTTTATCATCAACAGAATTTTTACAGACATACGCAGTAGGTCTATGCCA
GTCCTTTTGTGAACTTTTAAAGGAAATTACTACAGAAGGTCAAGTTCAGGTGCTCAAGGTTGTGGAAAATGCCCTTAAAGTGAACCCAAT
ACTAGGTCCACAAATGTTTCAACCGATTTTACCCTATGTTTTCAAGGGTATTATAGAAGGGGAGAGGTATCCTGTAGTGATGTCCACGTA
TCTTGGAGTTATGGGTCGAGTTCTACTACAAAACACTAGTTTTTTTTCTTCACTACTTAATGAGATGGCCCATAAATTTAATCAGGAGAT
GGACCAGCTTTTGGGAAATATGATTGAAATGTGGGTTGATCGAATGGACAACATTACCCAGCCTGAAAGAAGAAAACTTTCAGCTTTGGC
TTTGCTCTCTCTTCTGCCATCTGATAATAGTGTTATCCAAGATAAATTCTGTGGGATTATAAACATTTCAGTAGAAGGCCTGCATGATGT
CATGACGGAAGATCCTGAAACAGGAACTTATAAAGACTGTATGTTGATGTCTCATCTTGAGGAACCAAAAGTAACAGAAGATGAAGAACC
ACCCACAGAACAAGATAAGAGGAAAAAGATGCTGGCCCTGAAGGACCCTGTTCATACAGTGTCACTGCAGCAGTTCATCTACGAGAAGCT
CAAGGCACAGCAGGAGATGCTAGGAGAACAAGGTTTCCAGTCCCTCATGGAAACAGTGGATACGGAGATTGTCACCCAGCTACAGGAGTT
TTTGCAAGGATTCTAAGAGCACATGACATGTGGCTGCCTCCCCTTTCAGAAACAAGCTGAGTAACCCAGCCTGCCGTTTGTATGTGAGAG
CCTGCTGAGATGAAGAAATCACTTCATGAAAATAAGCAAAGACCACACATTTTTTACTACAAAATGTAAAGGATAAATGTAAATCCTGCA
TAACTAAAATCACAAACCTATTCCTCAAAAGAATTTAATTTTATATTTATGAGGGGGCCCTTCACTAAAAAGTACATGTAAAAGTACATT
TGATGACAATAGCTGCTTAGTTTCCTGTTAAGAGAAGAAACTTTATCTTTTAATTATGTGCTCTTAATATTTGAAGATGAGAGTTAATAC

>5267_5267_2_AP3B1-IPO11_AP3B1_chr5_77590276_ENST00000255194_IPO11_chr5_61762958_ENST00000409296_length(amino acids)=792AA_BP=
MWNHHTDTFLQEVSSGNEAAILSSLERTLLSLKVLRKLTVNGFVEPHKNMEVMGFLHGIFERLKQFLECSRSIGTDNVCRDRLEKTIILF
TKVLLDFLDQHPFSFTPLIQRSLEFSVSYVFTEVGEGVTFERFIVQCMNLIKMIVKNYAYKPSKNFEDSSPETLEAHKIKMAFFTYPTLT
EICRRLVSHYFLLTEEELTMWEEDPEGFTVEETGGDSWKYSLRPCTEVLFIDIFHEYNQTLTPVLLEMMQTLQGPTNVEDMNALLIKDAV
YNAVGLAAYELFDSVDFDQWFKNQLLPELQVIHNRYKPLRRRVIWLIGQWISVKFKSDLRPMLYEAICNLLQDQDLVVRIETATTLKLTV
DDFEFRTDQFLPYLETMFTLLFQLLQQVTECDTKMHVLHVLSCVIERVNMQIRPYVGCLVQYLPLLWKQSEEHNMLRCAILTTLIHLVQG
LGADSKNLYPFLLPVIQLSTDVSQPPHVYLLEDGLELWLVTLENSPCITPELLRIFQNMSPLLELSSENLRTCFKIINGYIFLSSTEFLQ
TYAVGLCQSFCELLKEITTEGQVQVLKVVENALKVNPILGPQMFQPILPYVFKGIIEGERYPVVMSTYLGVMGRVLLQNTSFFSSLLNEM
AHKFNQEMDQLLGNMIEMWVDRMDNITQPERRKLSALALLSLLPSDNSVIQDKFCGIINISVEGLHDVMTEDPETGTYKDCMLMSHLEEP

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Fusion Gene PPI Analysis for AP3B1-IPO11


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 AP3B1-IPO11


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 AP3B1-IPO11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3B1C1842362HERMANSKY-PUDLAK SYNDROME 26CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAP3B1C0024115Lung diseases1GENOMICS_ENGLAND
HgeneAP3B1C0034069Pulmonary Fibrosis1GENOMICS_ENGLAND
HgeneAP3B1C0079504Hermanski-Pudlak Syndrome1GENOMICS_ENGLAND
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0043094Weight Gain1CTD_human