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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:RPTOR-GAA (FusionGDB2 ID:78226)

Fusion Gene Summary for RPTOR-GAA

check button Fusion gene summary
Fusion gene informationFusion gene name: RPTOR-GAA
Fusion gene ID: 78226
HgeneTgene
Gene symbol

RPTOR

GAA

Gene ID

57521

2548

Gene nameregulatory associated protein of MTOR complex 1glucosidase alpha, acid
SynonymsKOG1|Mip1LYAG
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionregulatory-associated protein of mTORp150 target of rapamycin (TOR)-scaffold protein containing WD-repeatsraptorlysosomal alpha-glucosidaseacid maltaseaglucosidase alfa
Modification date2020031320200315
UniProtAcc.

P10253

Ensembl transtripts involved in fusion geneENST00000575542, ENST00000306801, 
ENST00000537330, ENST00000544334, 
ENST00000570891, 		ENST00000302262, 
ENST00000390015, ENST00000574376, 
Fusion gene scores* DoF score26 X 20 X 11=57203 X 4 X 4=48
# samples 274
** MAII scorelog2(27/5720*10)=-4.40498383461492
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPTOR [Title/Abstract] AND GAA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPTOR(78811797)-GAA(78078353), # samples:1
RPTOR(78519591)-GAA(78079548), # samples:1
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
HgeneRPTOR

GO:0031929

TOR signaling

20381137

HgeneRPTOR

GO:0032008

positive regulation of TOR signaling

12150926|18439900

HgeneRPTOR

GO:0071233

cellular response to leucine

22424946

HgeneRPTOR

GO:0071902

positive regulation of protein serine/threonine kinase activity

12150926

TgeneGAA

GO:0005980

glycogen catabolic process

9505277|29061980


check buttonFusion gene breakpoints across RPTOR (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 GAA (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
ChimerDB4OVTCGA-09-1659RPTORchr17

78811797

+GAAchr17

78078353

+
ChimerDB4PRADTCGA-EJ-A46G-01ARPTORchr17

78519591

-GAAchr17

78079548

+


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Fusion Gene ORF analysis for RPTOR-GAA

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
3UTR-5UTRENST00000575542ENST00000302262RPTORchr17

78811797

+GAAchr17

78078353

+
3UTR-5UTRENST00000575542ENST00000390015RPTORchr17

78811797

+GAAchr17

78078353

+
3UTR-intronENST00000575542ENST00000574376RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-5UTRENST00000306801ENST00000302262RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-5UTRENST00000306801ENST00000390015RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-5UTRENST00000537330ENST00000302262RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-5UTRENST00000537330ENST00000390015RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-5UTRENST00000544334ENST00000302262RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-5UTRENST00000544334ENST00000390015RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-intronENST00000306801ENST00000302262RPTORchr17

78519591

-GAAchr17

78079548

+
5CDS-intronENST00000306801ENST00000574376RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-intronENST00000306801ENST00000574376RPTORchr17

78519591

-GAAchr17

78079548

+
5CDS-intronENST00000537330ENST00000574376RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-intronENST00000544334ENST00000302262RPTORchr17

78519591

-GAAchr17

78079548

+
5CDS-intronENST00000544334ENST00000574376RPTORchr17

78811797

+GAAchr17

78078353

+
5CDS-intronENST00000544334ENST00000574376RPTORchr17

78519591

-GAAchr17

78079548

+
5CDS-intronENST00000570891ENST00000302262RPTORchr17

78519591

-GAAchr17

78079548

+
5CDS-intronENST00000570891ENST00000574376RPTORchr17

78519591

-GAAchr17

78079548

+
5UTR-3CDSENST00000537330ENST00000390015RPTORchr17

78519591

-GAAchr17

78079548

+
5UTR-intronENST00000537330ENST00000302262RPTORchr17

78519591

-GAAchr17

78079548

+
5UTR-intronENST00000537330ENST00000574376RPTORchr17

78519591

-GAAchr17

78079548

+
In-frameENST00000306801ENST00000390015RPTORchr17

78519591

-GAAchr17

78079548

+
In-frameENST00000544334ENST00000390015RPTORchr17

78519591

-GAAchr17

78079548

+
In-frameENST00000570891ENST00000390015RPTORchr17

78519591

-GAAchr17

78079548

+
intron-3CDSENST00000575542ENST00000390015RPTORchr17

78519591

-GAAchr17

78079548

+
intron-5UTRENST00000570891ENST00000302262RPTORchr17

78811797

+GAAchr17

78078353

+
intron-5UTRENST00000570891ENST00000390015RPTORchr17

78811797

+GAAchr17

78078353

+
intron-intronENST00000570891ENST00000574376RPTORchr17

78811797

+GAAchr17

78078353

+
intron-intronENST00000575542ENST00000302262RPTORchr17

78519591

-GAAchr17

78079548

+
intron-intronENST00000575542ENST00000574376RPTORchr17

78519591

-GAAchr17

78079548

+

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)
ENST00000570891RPTORchr1778519591-ENST00000390015GAAchr1778079548+37749156993227842
ENST00000306801RPTORchr1778519591-ENST00000390015GAAchr1778079548+33835243082836842
ENST00000544334RPTORchr1778519591-ENST00000390015GAAchr1778079548+31833241082636842

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
ENST00000570891ENST00000390015RPTORchr1778519591-GAAchr1778079548+0.0030423880.99695766
ENST00000306801ENST00000390015RPTORchr1778519591-GAAchr1778079548+0.0027108980.9972892
ENST00000544334ENST00000390015RPTORchr1778519591-GAAchr1778079548+0.0027782820.9972217

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Fusion Genomic Features for RPTOR-GAA


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)
RPTORchr1778811797+GAAchr1778078353+0.0023439710.997656
RPTORchr1778811797+GAAchr1778078353+0.0023439710.997656

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 RPTOR-GAA


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/chr17:78811797/chr17:78078353)
- 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
.GAA

P10253

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: Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). {ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:1856189, ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:7717400}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-134881_887541336.0Compositional biasNote=Poly-Ser
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-19881_88754380.0Compositional biasNote=Poly-Ser
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341020_1061541336.0RepeatNote=WD 1
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341065_1106541336.0RepeatNote=WD 2
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341121_1160541336.0RepeatNote=WD 3
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341164_1203541336.0RepeatNote=WD 4
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341209_1249541336.0RepeatNote=WD 5
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341251_1291541336.0RepeatNote=WD 6
HgeneRPTORchr17:78519591chr17:78079548ENST00000306801-1341299_1335541336.0RepeatNote=WD 7
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191020_106154380.0RepeatNote=WD 1
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191065_110654380.0RepeatNote=WD 2
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191121_116054380.0RepeatNote=WD 3
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191164_120354380.0RepeatNote=WD 4
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191209_124954380.0RepeatNote=WD 5
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191251_129154380.0RepeatNote=WD 6
HgeneRPTORchr17:78519591chr17:78079548ENST00000570891-191299_133554380.0RepeatNote=WD 7
TgeneGAAchr17:78519591chr17:78079548ENST0000030226212080_131182953.0DomainP-type
TgeneGAAchr17:78519591chr17:78079548ENST0000039001522180_131182953.0DomainP-type


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Fusion Gene Sequence for RPTOR-GAA


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.
>78226_78226_1_RPTOR-GAA_RPTOR_chr17_78519591_ENST00000306801_GAA_chr17_78079548_ENST00000390015_length(transcript)=3383nt_BP=524nt
GAGAGCAGGGTCATCGTGAGGCCTGAAGTCTCTTACGCTTTTGGCAGCTCCCCTCGCAGCCCCTCTGGAAACGTACAGCCTCAGGAGCAG
CCAGTGGCTTGGGACCTGGGGTGGTGTGTGTCTGCGGAGCTTCTTGGGCTGCCCCATTTCCTAGCGGCCCCCACCTCCCCACTTCCCGCT
CAGAGTTAGAGATAAGGATCTCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTATCCATTTGGTTTTCGATTTCCCGTTTTTGTTT
CTTATTTCACCAATTCTGGTACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTGCTGCCAAGGACTCCCCCACCCCCTCCCCCAC
TGATGGAGTCCGAAATGCTGCAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCTGATCTTACAGACTGGAACCTACCTTTGGCTT
TTATGAAAAAGAGGCACTGTGAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGGAGGATGAAGGATCGGATCAAAGATCCAGCTA
ACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCT
TCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGC
TGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCC
TGTGGAACCGGGACCTTGCGCCCACGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCAC
ACGGGGTGTTCCTGCTAAACAGCAATGCCATGGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGG
ATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGATACCCGTTCATGCCGCCATACTGGG
GCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCC
TGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGG
TGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCT
ACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTATGGCCCGGGTCCACTGCCTTCC
CCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTG
ACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGGGTGG
TTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGA
CCGAAGCCATCGCCTCCCACAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCC
GATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGAAATCCTGCAGTTTAACCTGCTGG
GGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCT
ACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGG
CCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCT
TCCTGGAGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGG
CCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCAC
CCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACC
TCCGGGCTGGGTACATCATCCCCCTGCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGA
CCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCT
TCCTGGCCAGGAATAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGG
GCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGTCCTGGACATCT
GTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCC
CAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAG
CCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCC
GGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCC
CTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGC
CCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTT

>78226_78226_1_RPTOR-GAA_RPTOR_chr17_78519591_ENST00000306801_GAA_chr17_78079548_ENST00000390015_length(amino acids)=842AA_BP=72
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRIKDPANRRYEVPLETPHV
HSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGAN
LYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSS
TAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITN
ETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICAS
SHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFL
GNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPG
LTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNG

--------------------------------------------------------------
>78226_78226_2_RPTOR-GAA_RPTOR_chr17_78519591_ENST00000544334_GAA_chr17_78079548_ENST00000390015_length(transcript)=3183nt_BP=324nt
TCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTATCCATTTGGTTTTCGATTTCCCGTTTTTGTTTCTTATTTCACCAATTCTGGT
ACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTGCTGCCAAGGACTCCCCCACCCCCTCCCCCACTGATGGAGTCCGAAATGCTG
CAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCTGATCTTACAGACTGGAACCTACCTTTGGCTTTTATGAAAAAGAGGCACTGT
GAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGGAGGATGAAGGATCGGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCC
TTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGG
CAGCTGGACGGCCGCGTGCTGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCG
CAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCG
CCCACGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAAC
AGCAATGCCATGGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGC
CCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGC
CGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTGGACGTCCAGTGGAACGAC
CTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGC
GGCCGGCGCTACATGATGATCGTGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGG
GGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACA
GCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGACATGAACGAGCCTTCCAAC
TTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGGGTGGTTGGGGGGACCCTCCAGGCG
GCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCAC
AGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACG
GGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCC
GACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCAC
AACAGCCTGCTCAGTCTGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCA
CTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTTCCCCAAGGAC
TCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACT
GGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGT
GAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATC
CCCCTGCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGA
GGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATAACACG
ATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAG
CAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGA
GAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGT
GCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCC
ACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTC
TGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACC
GGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCG
GCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAG

>78226_78226_2_RPTOR-GAA_RPTOR_chr17_78519591_ENST00000544334_GAA_chr17_78079548_ENST00000390015_length(amino acids)=842AA_BP=72
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRIKDPANRRYEVPLETPHV
HSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGAN
LYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSS
TAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITN
ETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICAS
SHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFL
GNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPG
LTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNG

--------------------------------------------------------------
>78226_78226_3_RPTOR-GAA_RPTOR_chr17_78519591_ENST00000570891_GAA_chr17_78079548_ENST00000390015_length(transcript)=3774nt_BP=915nt
ATGAGTTTCACTGTAGCTCCAAACCAGAGGGCAAAGCTCCCATGACCCAATAAGCCCACATTGTCCCTTTCCTCCGTGGTTCCGTGTCGC
CCGTTTCTCAGGACTCGTTCTCAGGCAGGAGAGAGCCTCGGGGCTGAAGGCCAGGACCAGCCAGGCCGCGCGGACCTGAGGTTGAGGAAC
CGGGTGCAGGCGAGCACGATGGGCCGGTCGTGGCTCTGGTTGCAGCAGCTCAGACGAGTGCGGGACCCGCAGGGCTGAGAGTGGCTGGAG
GAGACCCAGGGCCCTTTGAACCCGATCCCTTGGCCGGAGACCTCAGCCCAGTCGGCCCAGTGGGCGAACCGGCACCAAGAGCGGCCTGCC
TGTCTTCGGAACTGCTGAGGCGGTGGAGGCCGAGAGCAGGGTCATCGTGAGGCCTGAAGTCTCTTACGCTTTTGGCAGCTCCCCTCGCAG
CCCCTCTGGAAACGTACAGCCTCAGGAGCAGCCAGTGGCTTGGGACCTGGGGTGGTGTGTGTCTGCGGAGCTTCTTGGGCTGCCCCATTT
CCTAGCGGCCCCCACCTCCCCACTTCCCGCTCAGAGTTAGAGATAAGGATCTCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTAT
CCATTTGGTTTTCGATTTCCCGTTTTTGTTTCTTATTTCACCAATTCTGGTACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTG
CTGCCAAGGACTCCCCCACCCCCTCCCCCACTGATGGAGTCCGAAATGCTGCAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCT
GATCTTACAGACTGGAACCTACCTTTGGCTTTTATGAAAAAGAGGCACTGTGAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGG
AGGATGAAGGATCGGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCA
CTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGCTGAACACGACGGTGGCG
CCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTG
ATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTC
TACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGATGTGGTCCTGCAGCCGAGCCCTGCC
CTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTT
GTGGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTG
GTGGAGAACATGACCAGGGCCCACTTCCCCCTGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAAC
AAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGATCCTGCCATCAGC
AGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATT
GGGAAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCAT
GACCAGGTGCCCTTCGACGGCATGTGGATTGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAG
CTGGAGAACCCACCCTACGTGCCTGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACA
CACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTG
ATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCC
GTGCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTG
TGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGCCCCAGGAGCCGTACAGCTTC
AGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCAC
GTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGG
GAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACG
GTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTG
CCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGGCCCTGGCCTCACAACCACAGAGTCCCGC
CAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTG
CTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCT
GGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACC
TACAGCCCCGACACCAAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTG
TGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTG
TCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGG
AGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGT
TGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCAC
CTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAA

>78226_78226_3_RPTOR-GAA_RPTOR_chr17_78519591_ENST00000570891_GAA_chr17_78079548_ENST00000390015_length(amino acids)=842AA_BP=72
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRIKDPANRRYEVPLETPHV
HSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGAN
LYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSS
TAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITN
ETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICAS
SHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFL
GNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPG
LTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNG

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

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Fusion Gene PPI Analysis for RPTOR-GAA


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 RPTOR-GAA


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 RPTOR-GAA


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