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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:TPPP-FAM134B (FusionGDB2 ID:93436)

Fusion Gene Summary for TPPP-FAM134B

check button Fusion gene summary
Fusion gene informationFusion gene name: TPPP-FAM134B
Fusion gene ID: 93436
HgeneTgene
Gene symbol

TPPP

FAM134B

Gene ID

11076

54463

Gene nametubulin polymerization promoting proteinreticulophagy regulator 1
SynonymsTPPP/p25|TPPP1|p24|p25|p25alphaFAM134B|JK-1|JK1
Cytomap

5p15.33

5p15.1

Type of geneprotein-codingprotein-coding
Descriptiontubulin polymerization-promoting protein25 kDa brain-specific proteinbrain specific protein p25 alphaglycogen synthase kinase 3 (GSK3) inhibitor p24p25-alphareticulophagy regulator 1family with sequence similarity 134 member Bprotein FAM134Breticulophagy receptor 1reticulophagy receptor FAM134B
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000360578, ENST00000399793, 
ENST00000509048, ENST00000306320, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 6 X 6=324
# samples 210
** MAII scorelog2(2/8*10)=1.32192809488736log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TPPP [Title/Abstract] AND FAM134B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM134B(16565872)-TPPP(678179), # samples:2
TPPP(677865)-FAM134B(16572211), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneTPPP

GO:0001578

microtubule bundle formation

17105200|26289831

HgeneTPPP

GO:0030953

astral microtubule organization

22328514

HgeneTPPP

GO:0032273

positive regulation of protein polymerization

15590652

HgeneTPPP

GO:0046785

microtubule polymerization

18028908

HgeneTPPP

GO:0051418

microtubule nucleation by microtubule organizing center

31522887

HgeneTPPP

GO:0070507

regulation of microtubule cytoskeleton organization

23093407

HgeneTPPP

GO:1904428

negative regulation of tubulin deacetylation

20308065|23093407


check buttonFusion gene breakpoints across TPPP (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 FAM134B (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
ChimerDB4STADTCGA-BR-7959-01ATPPPchr5

677865

-FAM134Bchr5

16572211

-


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Fusion Gene ORF analysis for TPPP-FAM134B

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-intronENST00000360578ENST00000399793TPPPchr5

677865

-FAM134Bchr5

16572211

-
5CDS-intronENST00000360578ENST00000509048TPPPchr5

677865

-FAM134Bchr5

16572211

-
In-frameENST00000360578ENST00000306320TPPPchr5

677865

-FAM134Bchr5

16572211

-

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)
ENST00000360578TPPPchr5677865-ENST00000306320FAM134Bchr516572211-32944331221606494

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
ENST00000360578ENST00000306320TPPPchr5677865-FAM134Bchr516572211-0.0002607980.9997392

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Fusion Genomic Features for TPPP-FAM134B


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 TPPP-FAM134B


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/chr5:16565872/chr5:678179)
- 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
HgeneTPPPchr5:677865chr5:16572211ENST00000360578-241_46103220.0RegionDisordered
TgeneFAM134Bchr5:677865chr5:16572211ENST000003997930784_2330357.0RegionReticulon homology domain
TgeneFAM134Bchr5:677865chr5:16572211ENST0000030632009117_118106498.0Topological domainCytoplasmic
TgeneFAM134Bchr5:677865chr5:16572211ENST0000030632009140_208106498.0Topological domainLumenal
TgeneFAM134Bchr5:677865chr5:16572211ENST0000030632009230_497106498.0Topological domainCytoplasmic
TgeneFAM134Bchr5:677865chr5:16572211ENST0000039979307117_1180357.0Topological domainCytoplasmic
TgeneFAM134Bchr5:677865chr5:16572211ENST0000039979307140_2080357.0Topological domainLumenal
TgeneFAM134Bchr5:677865chr5:16572211ENST00000399793071_590357.0Topological domainCytoplasmic
TgeneFAM134Bchr5:677865chr5:16572211ENST0000039979307230_4970357.0Topological domainCytoplasmic
TgeneFAM134Bchr5:677865chr5:16572211ENST000003997930781_950357.0Topological domainLumenal
TgeneFAM134Bchr5:677865chr5:16572211ENST0000030632009119_139106498.0TransmembraneHelical
TgeneFAM134Bchr5:677865chr5:16572211ENST0000030632009209_229106498.0TransmembraneHelical
TgeneFAM134Bchr5:677865chr5:16572211ENST0000039979307119_1390357.0TransmembraneHelical
TgeneFAM134Bchr5:677865chr5:16572211ENST0000039979307209_2290357.0TransmembraneHelical
TgeneFAM134Bchr5:677865chr5:16572211ENST000003997930760_800357.0TransmembraneHelical
TgeneFAM134Bchr5:677865chr5:16572211ENST000003997930796_1160357.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTPPPchr5:677865chr5:16572211ENST00000360578-24171_192103220.0RegionDisordered
TgeneFAM134Bchr5:677865chr5:16572211ENST000003063200984_233106498.0RegionReticulon homology domain
TgeneFAM134Bchr5:677865chr5:16572211ENST00000306320091_59106498.0Topological domainCytoplasmic
TgeneFAM134Bchr5:677865chr5:16572211ENST000003063200981_95106498.0Topological domainLumenal
TgeneFAM134Bchr5:677865chr5:16572211ENST000003063200960_80106498.0TransmembraneHelical
TgeneFAM134Bchr5:677865chr5:16572211ENST000003063200996_116106498.0TransmembraneHelical


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Fusion Gene Sequence for TPPP-FAM134B


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.
>93436_93436_1_TPPP-FAM134B_TPPP_chr5_677865_ENST00000360578_FAM134B_chr5_16572211_ENST00000306320_length(transcript)=3294nt_BP=433nt
GGGCGGTGCTGGGCGGGACGGGCGGGCGCGGGGCGGCGGCTGGAGAGCTCCGCTGAGCACCGGGTCGCGCGCGGCCGAGTCGCGGAGGCG
CCTCCGCTGCAGTCGCTGCGTCTCCAAGCAACATGGCTGACAAGGCCAAGCCTGCCAAAGCTGCCAACAGGACGCCCCCCAAGTCCCCGG
GGGACCCCTCGAAGGACCGGGCAGCCAAGAGGCTGTCGCTGGAATCGGAGGGTGCTGGTGAGGGGGCAGCCGCATCCCCTGAGCTCAGTG
CCCTGGAGGAGGCCTTCCGGCGCTTTGCCGTGCACGGGGACGCCAGGGCCACCGGGAGGGAGATGCACGGCAAGAACTGGTCGAAGCTGT
GCAAGGACTGCCAGGTGATCGACGGCAGGAACGTGACCGTCACTGACGTGGACATCGTCTTCAGCAAGATCAAGTTCCTTGCATTGACTC
CATGGAGAGTATATCACCTGATTTCCGTCATGATACTTGGGCGTGTTATTATGCAAATAATAAAGGATATGGTTTTGTCTAGAACAAGAG
GTGCACAGTTGTGGAGAAGCCTCAGTGAAAGCTGGGAAGTTATCAATTCCAAACCAGATGAAAGACCCAGGCTCAGCCACTGTATTGCAG
AATCATGGATGAATTTCAGCATATTTCTTCAAGAAATGTCTCTTTTTAAACAGCAGAGCCCTGGCAAGTTTTGTCTCCTGGTCTGTAGTG
TGTGCACATTTTTTACGATCTTGGGAAGTTACATTCCTGGGGTTATACTCAGCTATCTACTGTTACTGTGTGCATTTTTGTGTCCATTGT
TTAAATGTAATGATATTGGACAAAAAATTTACAGCAAAATTAAGTCAGTTCTGCTGAAACTGGATTTTGGAATTGGAGAATATATTAATC
AGAAGAAACGTGAGAGATCTGAAGCAGACAAAGAAAAAAGTCACAAAGATGACAGTGAATTAGACTTTTCAGCTCTTTGTCCTAAGATTA
GCCTCACGGTTGCTGCCAAAGAGTTATCTGTGTCTGACACAGACGTCTCAGAGGTATCCTGGACTGATAATGGGACCTTCAACCTTTCAG
AAGGATACACTCCACAGACAGACACTTCTGATGATCTTGACCGACCCAGTGAGGAAGTTTTCTCTAGAGATCTTTCAGATTTTCCATCTC
TAGAAAATGGCATGGGAACAAATGATGAAGATGAATTAAGCCTTGGTTTGCCCACTGAGCTCAAGAGAAAGAAGGAACAGTTGGACAGTG
GTCACAGACCAAGCAAAGAGACGCAATCAGCAGCTGGTCTCACCCTTCCTCTGAACAGTGACCAAACCTTTCACCTGATGAGCAACCTGG
CTGGGGATGTTATCACAGCTGCAGTGACTGCAGCTATCAAAGACCAGTTAGAGGGTGTGCAGCAAGCACTTTCTCAGGCTGCCCCCATCC
CAGAAGAGGACACAGACACTGAAGAAGGTGATGACTTTGAACTACTTGACCAGTCAGAGCTGGATCAAATTGAGAGTGAATTGGGACTTA
CACAAGACCAGGAAGCAGAAGCACAGCAAAATAAGAAGTCTTCAGGTTTCCTTTCAAATCTGCTGGGAGGCCATTAATCTAGGAATCAGC
TTGCAACAGAGCACAAAAAACACCAAAAAAATTTCAAACAAGAAAAAAAAAAAAAAAAGGAAAAGAAAAAAATTGAACTGTAAGCTTTAA
TGATTACTTTAGATTTGTTTTATTTTCCCTCCTGCAGTGAATTAATTGGATATATATCAGCTGACACTGATAGATTGATATTTCTGATCG
TTATTTTTGTGTAATAAGCATGGAAATGAACTTTATACACACCACTGTGTTGTCAGAGATAAATATTAGGGGTTGTTTTTAAAGCAAAAA
GAAAAAAACAAAAACCAAACTATTAAAATCCTCCTATAAATATTCTTTTTCTTTACAGTTTTTCAAGCATGCAAAACAGTTTATTGTAAC
TTACTGAAAAATATTAACAATTAATTGTGAATACATGCTGTTACCAGCTTCCTTATTCCTAATACCTGGAAAATTTTTTTTTCAACGGAT
AGATTTTGATGTAAAAAAGACCGAAATTATCAAGGTATCTTAGTTGAAGGACTTGGGAAATACTATCAAAATTAATTTCTTAGGAAAAAA
TTTAAAAGTATATTTAAGTACTCTGGATAGACTGAAACGTTTCCATGTTATTTCTGCAGTTGTAGACTTAGGCTTATTTGTAAAGAAGCA
TGCTCCATTGACTGCCATCTCTAGTCTTGCAGTGGGTGGTATTAACCCATAGAAAGCAAGCAGTTGTGTATCACATAGACAATGGTTATG
ATGTAAACAGATTCAGTTGTTTTGTTGTTCATTCGTCATATGTTTGTGATAGGGATGTTGGGAGCACAGCTCTATTCTGCCTGCTCAGAC
TTAAGTTAGACCCTTATCTTTTATATTATGTCATGAAAAAAGTCTCCTAAAATTGTGAAACTAGTTCTTGATGAGTGATGTGATCATCAG
CAATAAAGATATAATAACTCTGTTTTCTTAGCCTGTATAGAGGAGAGGAACTTGCTTGGCTTTAAAATATATTTATTTGCCATTTAAGTA
TAAATATGGAATCTGTTTCTTATTGGGAAGATAGAATATATATATTTTCCTTTAAACTTTTTAAGGTCACTTTTAAATAACCAAATTTGA
TTTATGGTTTTTAACAAAGGACTAAAGAGCTGAAACCAACCTAGTTTTGTTTTTGTGATATAAACTTTAAGTGTCGAGGGACCATGCCAG
CAACTACCAAAAATCTCTTAAATCTTCAGGTACAGCTGGCATTTTGGCAGATGCATAGAGACATCTGAGACCCTCAGAAAGGAAGGATAA
TCCAAGAATATAGGAAATCTGTGTTCTCTTCCTTTCATTTTATCCCTTATATTTCTAAAGACTAATTATAAGTAATCTGACATTTTAATG
TAGCTACTCTTATTTATTTTTTCTTTCTGAGGTATTAAAATATCTGGACTGAGTTTTGCCAAATGTTAAAGGGAGAAGAGTTACTGAAGA
CTTTGAACACTTGCTTTTTGTGATTGCTTATGTCATTAGTGCCTCATGACTGTGTTTGATGTCCTTTATTGATACAAAGTGAGCCTGTGC
CTTCATTATCTTGCCCATTTTAATACAAATGGAAACCTGGTGTTTGAAAATCTCTGAACTGTGTGGGTTTTGGAGGAATATACCTGAATT

>93436_93436_1_TPPP-FAM134B_TPPP_chr5_677865_ENST00000360578_FAM134B_chr5_16572211_ENST00000306320_length(amino acids)=494AA_BP=104
MADKAKPAKAANRTPPKSPGDPSKDRAAKRLSLESEGAGEGAAASPELSALEEAFRRFAVHGDARATGREMHGKNWSKLCKDCQVIDGRN
VTVTDVDIVFSKIKFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVINSKPDERPRLSHCIAESWMNFSIFLQ
EMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADK
EKSHKDDSELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDDLDRPSEEVFSRDLSDFPSLENGMGTNDED
ELSLGLPTELKRKKEQLDSGHRPSKETQSAAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAAPIPEEDTDTEEGD

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

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Fusion Gene PPI Analysis for TPPP-FAM134B


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 TPPP-FAM134B


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 TPPP-FAM134B


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