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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-RNF213 (FusionGDB2 ID:77764)

Fusion Gene Summary for RPTOR-RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: RPTOR-RNF213
Fusion gene ID: 77764
HgeneTgene
Gene symbol

RPTOR

RNF213

Gene ID

57521

57674

Gene nameregulatory associated protein of MTOR complex 1ring finger protein 213
SynonymsKOG1|Mip1ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionregulatory-associated protein of mTORp150 target of rapamycin (TOR)-scaffold protein containing WD-repeatsraptorE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2020031320200313
UniProtAcc.

Q63HN8

Ensembl transtripts involved in fusion geneENST00000537330, ENST00000570891, 
ENST00000306801, ENST00000544334, 
ENST00000575542, 		ENST00000508628, 
ENST00000456466, ENST00000582970, 
ENST00000319921, ENST00000336301, 
ENST00000427003, 
Fusion gene scores* DoF score26 X 20 X 11=572017 X 18 X 7=2142
# samples 2720
** MAII scorelog2(27/5720*10)=-4.40498383461492
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/2142*10)=-3.42088657497553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPTOR [Title/Abstract] AND RNF213 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRNF213(78286967)-RPTOR(78599491), # samples:1
RPTOR(78617610)-RNF213(78341548), # 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

TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


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.

check buttonFusion gene breakpoints across RNF213 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-BH-A0DX-01ARPTORchr17

78617610

-RNF213chr17

78341548

+


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Fusion Gene ORF analysis for RPTOR-RNF213

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
intron-3CDSENST00000537330ENST00000508628RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000537330ENST00000456466RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000537330ENST00000582970RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000537330ENST00000319921RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000537330ENST00000336301RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000537330ENST00000427003RPTORchr17

78617610

-RNF213chr17

78341548

+
In-frameENST00000570891ENST00000508628RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000570891ENST00000456466RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000570891ENST00000582970RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000570891ENST00000319921RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000570891ENST00000336301RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000570891ENST00000427003RPTORchr17

78617610

-RNF213chr17

78341548

+
In-frameENST00000306801ENST00000508628RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000306801ENST00000456466RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000306801ENST00000582970RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000306801ENST00000319921RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000306801ENST00000336301RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000306801ENST00000427003RPTORchr17

78617610

-RNF213chr17

78341548

+
In-frameENST00000544334ENST00000508628RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000544334ENST00000456466RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000544334ENST00000582970RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000544334ENST00000319921RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000544334ENST00000336301RPTORchr17

78617610

-RNF213chr17

78341548

+
5CDS-intronENST00000544334ENST00000427003RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-3CDSENST00000575542ENST00000508628RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000575542ENST00000456466RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000575542ENST00000582970RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000575542ENST00000319921RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000575542ENST00000336301RPTORchr17

78617610

-RNF213chr17

78341548

+
intron-intronENST00000575542ENST00000427003RPTORchr17

78617610

-RNF213chr17

78341548

+

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)
ENST00000570891RPTORchr1778617610-ENST00000508628RNF213chr1778341548+6668110169948531384
ENST00000306801RPTORchr1778617610-ENST00000508628RNF213chr1778341548+627771030844621384
ENST00000544334RPTORchr1778617610-ENST00000508628RNF213chr1778341548+607751010842621384

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
ENST00000570891ENST00000508628RPTORchr1778617610-RNF213chr1778341548+0.0031165310.99688345
ENST00000306801ENST00000508628RPTORchr1778617610-RNF213chr1778341548+0.0019663790.9980336
ENST00000544334ENST00000508628RPTORchr1778617610-RNF213chr1778341548+0.0017111530.9982888

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Fusion Genomic Features for RPTOR-RNF213


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.

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 RPTOR-RNF213


check button Go to

FGviewer for the breakpoints of chr17:78617610-chr17:78341548

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.RNF213

Q63HN8

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115). {ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26278786, ECO:0000269|PubMed:26766444, ECO:0000269|PubMed:30705059, ECO:0000269|PubMed:30846318, ECO:0000269|PubMed:32139119, ECO:0000269|PubMed:33842849, ECO:0000269|PubMed:34012115}.

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
TgeneRNF213chr17:78617610chr17:78341548ENST00000319921017343_37401064.0Coiled coilOntology_term=ECO:0000255
TgeneRNF213chr17:78617610chr17:78341548ENST000003199210173997_403601064.0Zinc fingerRING-type
TgeneRNF213chr17:78617610chr17:78341548ENST0000058297041683997_40363957.05208.0Zinc fingerRING-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-334881_887116.01336.0Compositional biasNote=Poly-Ser
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-39881_887116.0380.0Compositional biasNote=Poly-Ser
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341020_1061116.01336.0RepeatNote=WD 1
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341065_1106116.01336.0RepeatNote=WD 2
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341121_1160116.01336.0RepeatNote=WD 3
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341164_1203116.01336.0RepeatNote=WD 4
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341209_1249116.01336.0RepeatNote=WD 5
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341251_1291116.01336.0RepeatNote=WD 6
HgeneRPTORchr17:78617610chr17:78341548ENST00000306801-3341299_1335116.01336.0RepeatNote=WD 7
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391020_1061116.0380.0RepeatNote=WD 1
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391065_1106116.0380.0RepeatNote=WD 2
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391121_1160116.0380.0RepeatNote=WD 3
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391164_1203116.0380.0RepeatNote=WD 4
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391209_1249116.0380.0RepeatNote=WD 5
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391251_1291116.0380.0RepeatNote=WD 6
HgeneRPTORchr17:78617610chr17:78341548ENST00000570891-391299_1335116.0380.0RepeatNote=WD 7
TgeneRNF213chr17:78617610chr17:78341548ENST000005086284269343_3744006.05257.0Coiled coilOntology_term=ECO:0000255
TgeneRNF213chr17:78617610chr17:78341548ENST000005829704168343_3743957.05208.0Coiled coilOntology_term=ECO:0000255
TgeneRNF213chr17:78617610chr17:78341548ENST0000050862842693997_40364006.05257.0Zinc fingerRING-type


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Fusion Gene Sequence for RPTOR-RNF213


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.
>In-frame_ENST00000570891_ENST00000508628_TCGA-BH-A0DX-01A_RPTOR_chr17_78617610_-_RNF213_chr17_78341548_length(transcript)=6668nt_BP=1101nt
ATGAGTTTCACTGTAGCTCCAAACCAGAGGGCAAAGCTCCCATGACCCAATAAGCCCACATTGTCCCTTTCCTCCGTGGTTCCGTGTCGC
CCGTTTCTCAGGACTCGTTCTCAGGCAGGAGAGAGCCTCGGGGCTGAAGGCCAGGACCAGCCAGGCCGCGCGGACCTGAGGTTGAGGAAC
CGGGTGCAGGCGAGCACGATGGGCCGGTCGTGGCTCTGGTTGCAGCAGCTCAGACGAGTGCGGGACCCGCAGGGCTGAGAGTGGCTGGAG
GAGACCCAGGGCCCTTTGAACCCGATCCCTTGGCCGGAGACCTCAGCCCAGTCGGCCCAGTGGGCGAACCGGCACCAAGAGCGGCCTGCC
TGTCTTCGGAACTGCTGAGGCGGTGGAGGCCGAGAGCAGGGTCATCGTGAGGCCTGAAGTCTCTTACGCTTTTGGCAGCTCCCCTCGCAG
CCCCTCTGGAAACGTACAGCCTCAGGAGCAGCCAGTGGCTTGGGACCTGGGGTGGTGTGTGTCTGCGGAGCTTCTTGGGCTGCCCCATTT
CCTAGCGGCCCCCACCTCCCCACTTCCCGCTCAGAGTTAGAGATAAGGATCTCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTAT
CCATTTGGTTTTCGATTTCCCGTTTTTGTTTCTTATTTCACCAATTCTGGTACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTG
CTGCCAAGGACTCCCCCACCCCCTCCCCCACTGATGGAGTCCGAAATGCTGCAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCT
GATCTTACAGACTGGAACCTACCTTTGGCTTTTATGAAAAAGAGGCACTGTGAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGG
AGGATGAAGGATCGGATGAAGACAGTCAGTGTTGCCTTAGTTTTGTGCCTGAATGTTGGTGTGGACCCTCCCGATGTGGTGAAGACCACG
CCCTGTGCACGCTTGGAATGCTGGATCGATCCTCTGTCGATGGGTCCTCAGAAAGCTCTGGAAACCATCGGTGCAAATTTACAGAAGCAG
TACGAGAACTGGCAGCCAAGGTGTCTTCGAGAGAACTCTGACGTGAAGACGCACGGGCCTTTTGAGGCCGTGATGCGCACTCTCTGTGAA
TGCAAGGAGACAGCCAGCAAGACCCTCAGCAGGTTTGGGATTCAGCCGTGCTCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTG
CCCTGCGACCACGTGCACTGCCTGCGCTGCCTCAGGGCCTGGTTTGCCTCAGAGCAGATGATATGCCCCTACTGTTTAACTGCCTTGCCA
GACGAATTCTCTCCAGCTGTTTCCCAAGCGCACAGGGAAGCCATTGAAAAGCATGCCCGCTTCCGGCAGATGTGCAACAGTTTCTTCGTA
GACCTGGTGTCCACCATTTGCTTCAAGGACAACGCTCCGCCTGAGAAGGAAGTGATTGAGAGCCTGCTCTCTCTCCTCTTCGTCCAAAAG
GGGCGCTTAAGAGATGCTGCCCAGAGACACTGTGAACACACAAAATCTCTCTCTCCATTCAATGATGTTGTGGATAAGACTCCTGTCATC
CGCTCAGTGATACTGAAACTGCTTTTGAAGTACAGCTTTCATGATGTAAAAGATTATATTCAGGAATATTTGACCCTGTTAAAAAAGAAA
GCATTCATAACTGAAGATAAAACTGAACTGTACATGCTCTTCATCAACTGCCTGGAGGATTCAATACTTGAGAAGACCAGTGCTTACTCC
AGAAATGATGAACTGAACCACCTAGAAGAGGAAGGTCGTTTCCTTAAGGCATATTCTCCAGCAAGCCGGGGCCGAGAGCCTGCCAACGAG
GCCTCGGTTGAATACCTGCAAGAGGTGGCCCGGATCCGCCTCTGCCTCGACAGAGCTGCAGATTTCCTCTCGGAGCCTGAGGGAGGCCCA
GAGATGGCCAAGGAGAAGCAGTGCTACCTGCAGCAAGTCAAGCAGTTCTGTATCCGGGTGGAGAACGACTGGCACCGGGTGTACCTGGTG
CGGAAGCTCAGCAGCCAGCGGGGGATGGAGTTCGTGCAGGGCCTCTCCAAGCCCGGCCGCCCGCACCAGTGGGTGTTTCCCAAGGACGTT
GTCAAGCAGCAGGGGCTGCGGCAGGACCACCCAGGCCAGATGGATAGGTACCTGGTGTACGGCGATGAATACAAGGCTCTCCGTGATGCT
GTGGCCAAAGCTGTCCTCGAGTGCAAGCCACTGGGCATTAAGACTGCTCTGAAGGCCTGCAAGACCCCCCAAAGCCAGCAGTCAGCCTAC
TTCCTGTTAACACTGTTTAGAGAGGTGGCTATTTTGTACAGATCCCACAATGCAAGCCTCCACCCCACGCCAGAGCAATGTGAAGCTGTG
AGCAAATTCATTGGCGAATGCAAGATCCTTTCACCTCCTGATATCAGCCGTTTTGCAACATCGCTCGTGGACAATTCTGTGCCATTGTTG
AGGGCGGGGCCTAGTGACAGCAACCTTGATGGAACGGTGACAGAAATGGCCATTCATGCTGCAGCCGTCCTTCTGTGTGGACAGAATGAA
CTCTTGGAGCCCCTAAAGAATCTGGCCTTCTCCCCAGCCACCATGGCGCATGCTTTTCTTCCAACCATGCCTGAAGACTTGCTGGCTCAA
GCTCGGAGGTGGAAGGGTCTGGAGCGAGTCCACTGGTACACTTGTCCCAACGGCCATCCTTGCTCCGTGGGAGAGTGTGGCAGGCCGATG
GAACAGAGCATCTGCATTGACTGCCATGCGCCGATTGGAGGCATTGACCACAAACCTCGGGACGGCTTTCATCTGGTCAAAGACAAGGCA
GACAGAACGCAGACCGGCCACGTGCTGGGCAACCCGCAGCGGAGAGACGTGGTGACATGTGACCGAGGGCTGCCCCCAGTGGTCTTCCTC
CTTATCCGGCTACTCACTCACTTGGCTCTGCTTCTGGGAGCGTCCCAGAGTTCCCAGGCTCTGATAAACATCATTAAGCCTCCAGTGAGG
GATCCAAAAGGCTTTCTGCAGCAGCACATCCTGAAGGACCTGGAGCAGTTGGCCAAGATGCTGGGACACAGTGCCGACGAGACCATCGGC
GTGGTCCACCTCGTCCTGCGCAGGCTTCTCCAAGAGCAGCACCAGCTCTCTAGCAGAAGGCTTTTAAATTTTGACACAGAATTGTCAACT
AAAGAAATGAGGAACAACTGGGAAAAGGAAATCGCAGCTGTGATTTCTCCTGAACTGGAGCATCTAGATAAAACCCTTCCCACCATGAAT
AATCTCATCAGCCAAGATAAGCGTATCAGCTCTAACCCTGTGGCCAAAATAATATATGGTGACCCAGTGACCTTCCTGCCCCACCTGCCC
CGGAAAAGTGTGGTCCATTGCTCTAAGATTTGGAGCTGCAGGAAAAGAATTACAGTTGAGTACCTCCAGCACATTGTGGAACAGAAAAAT
GGCAAAGAAAGAGTGCCCATCCTCTGGCATTTCCTGCAGAAGGAAGCAGAGCTGAGGCTGGTAAAGTTCCTGCCTGAGATTTTGGCCTTG
CAAAGGGATCTAGTGAAGCAGTTCCAGAACGTCCAGCAAGTTGAATACAGCTCCATCAGAGGCTTCCTCAGCAAGCACAGCTCAGATGGG
TTGAGGCAGCTGCTTCACAACAGGATCACAGTCTTTCTGTCCACATGGAACAAACTGAGGAGATCGCTTGAGACGAACGGTGAGATCAAC
CTACCCAAAGACTACTGCAGCACTGACTTGGATCTGGACACTGAGTTTGAGATCCTCTTGCCACGCCGACGGGGCCTGGGCCTCTGTGCT
ACCGCTCTCGTCAGCTACTTGATTCGCCTACACAATGAAATTGTCTACGCCGTGGAAAAACTCTCCAAGGAAAACAACAGCTATTCCGTG
GATGCCGCCGAGGTCACTGAACTGCATGTCATCAGTTATGAAGTGGAGCGGGACCTGACTCCACTGATTCTCTCCAACTGCCAGTACCAG
GTGGAGGAGGGCAGAGAGACCGTGCAGGAGTTCGATCTGGAGAAGATTCAGCGGCAGATCGTCAGCCGCTTCCTCCAGGGCAAGCCCCGG
CTGAGCCTCAAGGGAATACCCACTCTGGTGTACAGACACGACTGGAACTATGAACATCTCTTTATGGACATCAAGAACAAAATGGCACAG
GACTCCCTCCCCAGCTCGGTCATTAGTGCCATCAGTGGACAGCTGCAGTCCTACAGCGATGCCTGTGAAGTGCTGTCTGTCGTAGAAGTC
ACTCTGGGGTTTCTGAGCACAGCTGGTGGGGATCCAAACATGCAGCTGAATGTGTATACTCAAGACATCCTGCAAATGGGTGATCAGACG
ATTCACGTGTTAAAGGCCTTAAACAGATGCCAGTTAAAACACACCATTGCCCTCTGGCAGTTCCTGTCTGCTCATAAGTCTGAACAGCTG
CTGCGGCTGCACAAAGAGCCATTTGGGGAAATCAGTTCAAGGTACAAAGCGGATCTGAGCCCGGAAAATGCTAAGCTCCTCAGCACATTC
CTAAATCAGACTGGCCTAGACGCCTTCCTGCTAGAGCTGCACGAAATGATAATCTTGAAACTAAAGAACCCCCAAACCCAAACCGAGGAG
CGCTTCCGCCCTCAGTGGAGCCTGAGAGACACTCTCGTAAGTTACATGCAAACTAAAGAAAGTGAAATTCTTCCTGAAATGGCATCTCAG
TTCCCAGAAGAGATACTGCTCGCCAGCTGTGTCTCAGTGTGGAAAACAGCTGCTGTGCTGAAATGGAATCGAGAAATGAGATAGAATTAT
TTCCTCAGCTATCTTTGGATGACTTTGGAGAGAAGACTCCTCTCTCCTCGTCTGCGGCGTGGACTTGATCATGGACTGGTGCCTTTGCAT
TCAGAAGGAGAGCTGTCAGCGTAGCACCGAATTCAAGACCAAGGCGTGCTACCTGAGCTGACAGCTTTTTGAAAGCCGAGCTGTTTCTGA
ACCATGTACATACATGTTCTGAAACTTTCTCATCATTTTATGAGTACTGTTCATTGAGAGATGACAATGAAGATTAGATGAAATTGGAAA
TAAACCAACATTGTTTACATTCCAGGAGACTTGTAGCTCAGCCACACACGCAGTAATGACCTGTGCCCGTTCGCCTCTGGCACTGCCCAC
CCCTCTTTTTTTTTTTCTTCTAATTCTGTACTCACAAAAGAGAATCTCATTTTCTTCTTTCTTCCATTCCCTTAAATTCTGAGTACTGTA
CATATATTTCTGGGTTCCCACGATGATGTGAAAAACTACCAGACTGTTTTTTGTCTTCTCACAAAGACAAGAAAAATCAGGGCATTTTGT
GAGTGCCTTAAGATCAAACTAACAAGATCTGACCCTCTCCCCTCACAGTGAGCCACTGCCCCACTTCAGAGGGTAAGAGCCAAAAGCCTC
ATTGTGAAAGGCACTGGACTTGGACCAGGGACACCATCAGGGCCTTGGTTTTCTCACGCATAAAATGGAGAGTGGATTAATCGCCAAAGA
TTCTTCTGATCTGACATTTTGAAATTGTGAGAGAAACTAGATGACTGTAAACTTGGTCACAGGCCTGGTTCTGGCAGTTCTTTGCGGACT
TTTTTCTAGCATTATGCCAAATAAACATGCAGTCTCAGTGTGCTCTCGCATGTATGAATATCTAGTCCTTTCTGTGGTTCTCAGCCAAGA
CATAAAAACTAGGACTCAGAGCACATACAAAACCAGTTATGTTTCGGAAAGAGGGAAAAGAGTCCCCGAGCCCGGATCTTGTGCTGCTTT
TCTCACTGACGTGTTGCCTTTTTTCTTTACAAAATCTGCTTTGATACTTAGGACCTCTCTGGACTAATTTCTCTTCCTAGACAGCTCAGC
ACAGCTATTGATATGTTAGAGGCAGTATCCTTAATATTCATTCTAAATGAGTTAACGACTTAACTTGAAATTGGGCCTAAGGAGTGAGAA
CTACAAAAATACAAAATGCTTGTCCAGGACTCAGCCATGCACACCTTGAGCAGCGCCGGCAGGAGGCACGGAAGGAACTGTGCTCCGTTC
TCCTCACTGTCATGGTGCCACCAGTGTCTGATGAAGGGCAGAGTGACCCAGACTGCAGGCAGTAACTGACTTCACACAGTCCCTGGCATT
TAGTCATCTGTGATTGTTTTATCACTCTGGACTGTGCAGAGCCACCTGCCACCGAGATCTGCATTCCGACTGCCTATGAACGGGTGTGGG
GGCCGGGGGCTGGCTTGCTGAAGTCTTCAACTTGCACTCGGAGCTCCTTTGATACCTCAGAGCTGGCTGTCAGGTGGCAGCTCACACCCA
GACTCACTGGCCACACCTCAGCAGGGGGGGAGTCGAGTGTCAGTCTCTTTCTGTGAAGGCTTTTTTTTTCCTTTGGCCTGGGAATTTTTC
CCATTTTTATGAAGGGGTTTTAAATTGTTTCATTTTGTGTGCTGTGCTTCAAAGCCTTAACTGTCAAATCTTGCATTATCTTGTTTGTAC
AGAAATATACTGGCCTAGCAGAGGCAAAAAAAAAAAAAATGAATTTTATTTTACTTGTCACACCTGTCTTAATAAACTGGAGTTTTGCTG

>In-frame_ENST00000570891_ENST00000508628_TCGA-BH-A0DX-01A_RPTOR_chr17_78617610_-_RNF213_chr17_78341548_length(amino acids)=1384AA_start in transcript=699_stop in transcript=4853
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRCLRENSDVKTHGPFEAVMRTLCECKETASKTLSRFGIQPCSICLGD
AKDPVCLPCDHVHCLRCLRAWFASEQMICPYCLTALPDEFSPAVSQAHREAIEKHARFRQMCNSFFVDLVSTICFKDNAPPEKEVIESLL
SLLFVQKGRLRDAAQRHCEHTKSLSPFNDVVDKTPVIRSVILKLLLKYSFHDVKDYIQEYLTLLKKKAFITEDKTELYMLFINCLEDSIL
EKTSAYSRNDELNHLEEEGRFLKAYSPASRGREPANEASVEYLQEVARIRLCLDRAADFLSEPEGGPEMAKEKQCYLQQVKQFCIRVEND
WHRVYLVRKLSSQRGMEFVQGLSKPGRPHQWVFPKDVVKQQGLRQDHPGQMDRYLVYGDEYKALRDAVAKAVLECKPLGIKTALKACKTP
QSQQSAYFLLTLFREVAILYRSHNASLHPTPEQCEAVSKFIGECKILSPPDISRFATSLVDNSVPLLRAGPSDSNLDGTVTEMAIHAAAV
LLCGQNELLEPLKNLAFSPATMAHAFLPTMPEDLLAQARRWKGLERVHWYTCPNGHPCSVGECGRPMEQSICIDCHAPIGGIDHKPRDGF
HLVKDKADRTQTGHVLGNPQRRDVVTCDRGLPPVVFLLIRLLTHLALLLGASQSSQALINIIKPPVRDPKGFLQQHILKDLEQLAKMLGH
SADETIGVVHLVLRRLLQEQHQLSSRRLLNFDTELSTKEMRNNWEKEIAAVISPELEHLDKTLPTMNNLISQDKRISSNPVAKIIYGDPV
TFLPHLPRKSVVHCSKIWSCRKRITVEYLQHIVEQKNGKERVPILWHFLQKEAELRLVKFLPEILALQRDLVKQFQNVQQVEYSSIRGFL
SKHSSDGLRQLLHNRITVFLSTWNKLRRSLETNGEINLPKDYCSTDLDLDTEFEILLPRRRGLGLCATALVSYLIRLHNEIVYAVEKLSK
ENNSYSVDAAEVTELHVISYEVERDLTPLILSNCQYQVEEGRETVQEFDLEKIQRQIVSRFLQGKPRLSLKGIPTLVYRHDWNYEHLFMD
IKNKMAQDSLPSSVISAISGQLQSYSDACEVLSVVEVTLGFLSTAGGDPNMQLNVYTQDILQMGDQTIHVLKALNRCQLKHTIALWQFLS
AHKSEQLLRLHKEPFGEISSRYKADLSPENAKLLSTFLNQTGLDAFLLELHEMIILKLKNPQTQTEERFRPQWSLRDTLVSYMQTKESEI

--------------------------------------------------------------
>In-frame_ENST00000306801_ENST00000508628_TCGA-BH-A0DX-01A_RPTOR_chr17_78617610_-_RNF213_chr17_78341548_length(transcript)=6277nt_BP=710nt
GAGAGCAGGGTCATCGTGAGGCCTGAAGTCTCTTACGCTTTTGGCAGCTCCCCTCGCAGCCCCTCTGGAAACGTACAGCCTCAGGAGCAG
CCAGTGGCTTGGGACCTGGGGTGGTGTGTGTCTGCGGAGCTTCTTGGGCTGCCCCATTTCCTAGCGGCCCCCACCTCCCCACTTCCCGCT
CAGAGTTAGAGATAAGGATCTCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTATCCATTTGGTTTTCGATTTCCCGTTTTTGTTT
CTTATTTCACCAATTCTGGTACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTGCTGCCAAGGACTCCCCCACCCCCTCCCCCAC
TGATGGAGTCCGAAATGCTGCAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCTGATCTTACAGACTGGAACCTACCTTTGGCTT
TTATGAAAAAGAGGCACTGTGAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGGAGGATGAAGGATCGGATGAAGACAGTCAGTG
TTGCCTTAGTTTTGTGCCTGAATGTTGGTGTGGACCCTCCCGATGTGGTGAAGACCACGCCCTGTGCACGCTTGGAATGCTGGATCGATC
CTCTGTCGATGGGTCCTCAGAAAGCTCTGGAAACCATCGGTGCAAATTTACAGAAGCAGTACGAGAACTGGCAGCCAAGGTGTCTTCGAG
AGAACTCTGACGTGAAGACGCACGGGCCTTTTGAGGCCGTGATGCGCACTCTCTGTGAATGCAAGGAGACAGCCAGCAAGACCCTCAGCA
GGTTTGGGATTCAGCCGTGCTCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTGCCCTGCGACCACGTGCACTGCCTGCGCTGCC
TCAGGGCCTGGTTTGCCTCAGAGCAGATGATATGCCCCTACTGTTTAACTGCCTTGCCAGACGAATTCTCTCCAGCTGTTTCCCAAGCGC
ACAGGGAAGCCATTGAAAAGCATGCCCGCTTCCGGCAGATGTGCAACAGTTTCTTCGTAGACCTGGTGTCCACCATTTGCTTCAAGGACA
ACGCTCCGCCTGAGAAGGAAGTGATTGAGAGCCTGCTCTCTCTCCTCTTCGTCCAAAAGGGGCGCTTAAGAGATGCTGCCCAGAGACACT
GTGAACACACAAAATCTCTCTCTCCATTCAATGATGTTGTGGATAAGACTCCTGTCATCCGCTCAGTGATACTGAAACTGCTTTTGAAGT
ACAGCTTTCATGATGTAAAAGATTATATTCAGGAATATTTGACCCTGTTAAAAAAGAAAGCATTCATAACTGAAGATAAAACTGAACTGT
ACATGCTCTTCATCAACTGCCTGGAGGATTCAATACTTGAGAAGACCAGTGCTTACTCCAGAAATGATGAACTGAACCACCTAGAAGAGG
AAGGTCGTTTCCTTAAGGCATATTCTCCAGCAAGCCGGGGCCGAGAGCCTGCCAACGAGGCCTCGGTTGAATACCTGCAAGAGGTGGCCC
GGATCCGCCTCTGCCTCGACAGAGCTGCAGATTTCCTCTCGGAGCCTGAGGGAGGCCCAGAGATGGCCAAGGAGAAGCAGTGCTACCTGC
AGCAAGTCAAGCAGTTCTGTATCCGGGTGGAGAACGACTGGCACCGGGTGTACCTGGTGCGGAAGCTCAGCAGCCAGCGGGGGATGGAGT
TCGTGCAGGGCCTCTCCAAGCCCGGCCGCCCGCACCAGTGGGTGTTTCCCAAGGACGTTGTCAAGCAGCAGGGGCTGCGGCAGGACCACC
CAGGCCAGATGGATAGGTACCTGGTGTACGGCGATGAATACAAGGCTCTCCGTGATGCTGTGGCCAAAGCTGTCCTCGAGTGCAAGCCAC
TGGGCATTAAGACTGCTCTGAAGGCCTGCAAGACCCCCCAAAGCCAGCAGTCAGCCTACTTCCTGTTAACACTGTTTAGAGAGGTGGCTA
TTTTGTACAGATCCCACAATGCAAGCCTCCACCCCACGCCAGAGCAATGTGAAGCTGTGAGCAAATTCATTGGCGAATGCAAGATCCTTT
CACCTCCTGATATCAGCCGTTTTGCAACATCGCTCGTGGACAATTCTGTGCCATTGTTGAGGGCGGGGCCTAGTGACAGCAACCTTGATG
GAACGGTGACAGAAATGGCCATTCATGCTGCAGCCGTCCTTCTGTGTGGACAGAATGAACTCTTGGAGCCCCTAAAGAATCTGGCCTTCT
CCCCAGCCACCATGGCGCATGCTTTTCTTCCAACCATGCCTGAAGACTTGCTGGCTCAAGCTCGGAGGTGGAAGGGTCTGGAGCGAGTCC
ACTGGTACACTTGTCCCAACGGCCATCCTTGCTCCGTGGGAGAGTGTGGCAGGCCGATGGAACAGAGCATCTGCATTGACTGCCATGCGC
CGATTGGAGGCATTGACCACAAACCTCGGGACGGCTTTCATCTGGTCAAAGACAAGGCAGACAGAACGCAGACCGGCCACGTGCTGGGCA
ACCCGCAGCGGAGAGACGTGGTGACATGTGACCGAGGGCTGCCCCCAGTGGTCTTCCTCCTTATCCGGCTACTCACTCACTTGGCTCTGC
TTCTGGGAGCGTCCCAGAGTTCCCAGGCTCTGATAAACATCATTAAGCCTCCAGTGAGGGATCCAAAAGGCTTTCTGCAGCAGCACATCC
TGAAGGACCTGGAGCAGTTGGCCAAGATGCTGGGACACAGTGCCGACGAGACCATCGGCGTGGTCCACCTCGTCCTGCGCAGGCTTCTCC
AAGAGCAGCACCAGCTCTCTAGCAGAAGGCTTTTAAATTTTGACACAGAATTGTCAACTAAAGAAATGAGGAACAACTGGGAAAAGGAAA
TCGCAGCTGTGATTTCTCCTGAACTGGAGCATCTAGATAAAACCCTTCCCACCATGAATAATCTCATCAGCCAAGATAAGCGTATCAGCT
CTAACCCTGTGGCCAAAATAATATATGGTGACCCAGTGACCTTCCTGCCCCACCTGCCCCGGAAAAGTGTGGTCCATTGCTCTAAGATTT
GGAGCTGCAGGAAAAGAATTACAGTTGAGTACCTCCAGCACATTGTGGAACAGAAAAATGGCAAAGAAAGAGTGCCCATCCTCTGGCATT
TCCTGCAGAAGGAAGCAGAGCTGAGGCTGGTAAAGTTCCTGCCTGAGATTTTGGCCTTGCAAAGGGATCTAGTGAAGCAGTTCCAGAACG
TCCAGCAAGTTGAATACAGCTCCATCAGAGGCTTCCTCAGCAAGCACAGCTCAGATGGGTTGAGGCAGCTGCTTCACAACAGGATCACAG
TCTTTCTGTCCACATGGAACAAACTGAGGAGATCGCTTGAGACGAACGGTGAGATCAACCTACCCAAAGACTACTGCAGCACTGACTTGG
ATCTGGACACTGAGTTTGAGATCCTCTTGCCACGCCGACGGGGCCTGGGCCTCTGTGCTACCGCTCTCGTCAGCTACTTGATTCGCCTAC
ACAATGAAATTGTCTACGCCGTGGAAAAACTCTCCAAGGAAAACAACAGCTATTCCGTGGATGCCGCCGAGGTCACTGAACTGCATGTCA
TCAGTTATGAAGTGGAGCGGGACCTGACTCCACTGATTCTCTCCAACTGCCAGTACCAGGTGGAGGAGGGCAGAGAGACCGTGCAGGAGT
TCGATCTGGAGAAGATTCAGCGGCAGATCGTCAGCCGCTTCCTCCAGGGCAAGCCCCGGCTGAGCCTCAAGGGAATACCCACTCTGGTGT
ACAGACACGACTGGAACTATGAACATCTCTTTATGGACATCAAGAACAAAATGGCACAGGACTCCCTCCCCAGCTCGGTCATTAGTGCCA
TCAGTGGACAGCTGCAGTCCTACAGCGATGCCTGTGAAGTGCTGTCTGTCGTAGAAGTCACTCTGGGGTTTCTGAGCACAGCTGGTGGGG
ATCCAAACATGCAGCTGAATGTGTATACTCAAGACATCCTGCAAATGGGTGATCAGACGATTCACGTGTTAAAGGCCTTAAACAGATGCC
AGTTAAAACACACCATTGCCCTCTGGCAGTTCCTGTCTGCTCATAAGTCTGAACAGCTGCTGCGGCTGCACAAAGAGCCATTTGGGGAAA
TCAGTTCAAGGTACAAAGCGGATCTGAGCCCGGAAAATGCTAAGCTCCTCAGCACATTCCTAAATCAGACTGGCCTAGACGCCTTCCTGC
TAGAGCTGCACGAAATGATAATCTTGAAACTAAAGAACCCCCAAACCCAAACCGAGGAGCGCTTCCGCCCTCAGTGGAGCCTGAGAGACA
CTCTCGTAAGTTACATGCAAACTAAAGAAAGTGAAATTCTTCCTGAAATGGCATCTCAGTTCCCAGAAGAGATACTGCTCGCCAGCTGTG
TCTCAGTGTGGAAAACAGCTGCTGTGCTGAAATGGAATCGAGAAATGAGATAGAATTATTTCCTCAGCTATCTTTGGATGACTTTGGAGA
GAAGACTCCTCTCTCCTCGTCTGCGGCGTGGACTTGATCATGGACTGGTGCCTTTGCATTCAGAAGGAGAGCTGTCAGCGTAGCACCGAA
TTCAAGACCAAGGCGTGCTACCTGAGCTGACAGCTTTTTGAAAGCCGAGCTGTTTCTGAACCATGTACATACATGTTCTGAAACTTTCTC
ATCATTTTATGAGTACTGTTCATTGAGAGATGACAATGAAGATTAGATGAAATTGGAAATAAACCAACATTGTTTACATTCCAGGAGACT
TGTAGCTCAGCCACACACGCAGTAATGACCTGTGCCCGTTCGCCTCTGGCACTGCCCACCCCTCTTTTTTTTTTTCTTCTAATTCTGTAC
TCACAAAAGAGAATCTCATTTTCTTCTTTCTTCCATTCCCTTAAATTCTGAGTACTGTACATATATTTCTGGGTTCCCACGATGATGTGA
AAAACTACCAGACTGTTTTTTGTCTTCTCACAAAGACAAGAAAAATCAGGGCATTTTGTGAGTGCCTTAAGATCAAACTAACAAGATCTG
ACCCTCTCCCCTCACAGTGAGCCACTGCCCCACTTCAGAGGGTAAGAGCCAAAAGCCTCATTGTGAAAGGCACTGGACTTGGACCAGGGA
CACCATCAGGGCCTTGGTTTTCTCACGCATAAAATGGAGAGTGGATTAATCGCCAAAGATTCTTCTGATCTGACATTTTGAAATTGTGAG
AGAAACTAGATGACTGTAAACTTGGTCACAGGCCTGGTTCTGGCAGTTCTTTGCGGACTTTTTTCTAGCATTATGCCAAATAAACATGCA
GTCTCAGTGTGCTCTCGCATGTATGAATATCTAGTCCTTTCTGTGGTTCTCAGCCAAGACATAAAAACTAGGACTCAGAGCACATACAAA
ACCAGTTATGTTTCGGAAAGAGGGAAAAGAGTCCCCGAGCCCGGATCTTGTGCTGCTTTTCTCACTGACGTGTTGCCTTTTTTCTTTACA
AAATCTGCTTTGATACTTAGGACCTCTCTGGACTAATTTCTCTTCCTAGACAGCTCAGCACAGCTATTGATATGTTAGAGGCAGTATCCT
TAATATTCATTCTAAATGAGTTAACGACTTAACTTGAAATTGGGCCTAAGGAGTGAGAACTACAAAAATACAAAATGCTTGTCCAGGACT
CAGCCATGCACACCTTGAGCAGCGCCGGCAGGAGGCACGGAAGGAACTGTGCTCCGTTCTCCTCACTGTCATGGTGCCACCAGTGTCTGA
TGAAGGGCAGAGTGACCCAGACTGCAGGCAGTAACTGACTTCACACAGTCCCTGGCATTTAGTCATCTGTGATTGTTTTATCACTCTGGA
CTGTGCAGAGCCACCTGCCACCGAGATCTGCATTCCGACTGCCTATGAACGGGTGTGGGGGCCGGGGGCTGGCTTGCTGAAGTCTTCAAC
TTGCACTCGGAGCTCCTTTGATACCTCAGAGCTGGCTGTCAGGTGGCAGCTCACACCCAGACTCACTGGCCACACCTCAGCAGGGGGGGA
GTCGAGTGTCAGTCTCTTTCTGTGAAGGCTTTTTTTTTCCTTTGGCCTGGGAATTTTTCCCATTTTTATGAAGGGGTTTTAAATTGTTTC
ATTTTGTGTGCTGTGCTTCAAAGCCTTAACTGTCAAATCTTGCATTATCTTGTTTGTACAGAAATATACTGGCCTAGCAGAGGCAAAAAA

>In-frame_ENST00000306801_ENST00000508628_TCGA-BH-A0DX-01A_RPTOR_chr17_78617610_-_RNF213_chr17_78341548_length(amino acids)=1384AA_start in transcript=308_stop in transcript=4462
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRCLRENSDVKTHGPFEAVMRTLCECKETASKTLSRFGIQPCSICLGD
AKDPVCLPCDHVHCLRCLRAWFASEQMICPYCLTALPDEFSPAVSQAHREAIEKHARFRQMCNSFFVDLVSTICFKDNAPPEKEVIESLL
SLLFVQKGRLRDAAQRHCEHTKSLSPFNDVVDKTPVIRSVILKLLLKYSFHDVKDYIQEYLTLLKKKAFITEDKTELYMLFINCLEDSIL
EKTSAYSRNDELNHLEEEGRFLKAYSPASRGREPANEASVEYLQEVARIRLCLDRAADFLSEPEGGPEMAKEKQCYLQQVKQFCIRVEND
WHRVYLVRKLSSQRGMEFVQGLSKPGRPHQWVFPKDVVKQQGLRQDHPGQMDRYLVYGDEYKALRDAVAKAVLECKPLGIKTALKACKTP
QSQQSAYFLLTLFREVAILYRSHNASLHPTPEQCEAVSKFIGECKILSPPDISRFATSLVDNSVPLLRAGPSDSNLDGTVTEMAIHAAAV
LLCGQNELLEPLKNLAFSPATMAHAFLPTMPEDLLAQARRWKGLERVHWYTCPNGHPCSVGECGRPMEQSICIDCHAPIGGIDHKPRDGF
HLVKDKADRTQTGHVLGNPQRRDVVTCDRGLPPVVFLLIRLLTHLALLLGASQSSQALINIIKPPVRDPKGFLQQHILKDLEQLAKMLGH
SADETIGVVHLVLRRLLQEQHQLSSRRLLNFDTELSTKEMRNNWEKEIAAVISPELEHLDKTLPTMNNLISQDKRISSNPVAKIIYGDPV
TFLPHLPRKSVVHCSKIWSCRKRITVEYLQHIVEQKNGKERVPILWHFLQKEAELRLVKFLPEILALQRDLVKQFQNVQQVEYSSIRGFL
SKHSSDGLRQLLHNRITVFLSTWNKLRRSLETNGEINLPKDYCSTDLDLDTEFEILLPRRRGLGLCATALVSYLIRLHNEIVYAVEKLSK
ENNSYSVDAAEVTELHVISYEVERDLTPLILSNCQYQVEEGRETVQEFDLEKIQRQIVSRFLQGKPRLSLKGIPTLVYRHDWNYEHLFMD
IKNKMAQDSLPSSVISAISGQLQSYSDACEVLSVVEVTLGFLSTAGGDPNMQLNVYTQDILQMGDQTIHVLKALNRCQLKHTIALWQFLS
AHKSEQLLRLHKEPFGEISSRYKADLSPENAKLLSTFLNQTGLDAFLLELHEMIILKLKNPQTQTEERFRPQWSLRDTLVSYMQTKESEI

--------------------------------------------------------------
>In-frame_ENST00000544334_ENST00000508628_TCGA-BH-A0DX-01A_RPTOR_chr17_78617610_-_RNF213_chr17_78341548_length(transcript)=6077nt_BP=510nt
TCAGACTTTTGCCTGAGTAAGGGTCTCCGCACTCTTTATCCATTTGGTTTTCGATTTCCCGTTTTTGTTTCTTATTTCACCAATTCTGGT
ACACGCTAGTTTTTAAGGCTGGAGGTTCTCGAGCGCTTGCTGCCAAGGACTCCCCCACCCCCTCCCCCACTGATGGAGTCCGAAATGCTG
CAATCGCCTCTTCTGGGCCTGGGGGAGGAAGATGAGGCTGATCTTACAGACTGGAACCTACCTTTGGCTTTTATGAAAAAGAGGCACTGT
GAGAAAATTGAAGGCTCCAAATCCTTAGCTCAGAGCTGGAGGATGAAGGATCGGATGAAGACAGTCAGTGTTGCCTTAGTTTTGTGCCTG
AATGTTGGTGTGGACCCTCCCGATGTGGTGAAGACCACGCCCTGTGCACGCTTGGAATGCTGGATCGATCCTCTGTCGATGGGTCCTCAG
AAAGCTCTGGAAACCATCGGTGCAAATTTACAGAAGCAGTACGAGAACTGGCAGCCAAGGTGTCTTCGAGAGAACTCTGACGTGAAGACG
CACGGGCCTTTTGAGGCCGTGATGCGCACTCTCTGTGAATGCAAGGAGACAGCCAGCAAGACCCTCAGCAGGTTTGGGATTCAGCCGTGC
TCCATCTGCCTGGGAGATGCAAAGGACCCCGTCTGTCTGCCCTGCGACCACGTGCACTGCCTGCGCTGCCTCAGGGCCTGGTTTGCCTCA
GAGCAGATGATATGCCCCTACTGTTTAACTGCCTTGCCAGACGAATTCTCTCCAGCTGTTTCCCAAGCGCACAGGGAAGCCATTGAAAAG
CATGCCCGCTTCCGGCAGATGTGCAACAGTTTCTTCGTAGACCTGGTGTCCACCATTTGCTTCAAGGACAACGCTCCGCCTGAGAAGGAA
GTGATTGAGAGCCTGCTCTCTCTCCTCTTCGTCCAAAAGGGGCGCTTAAGAGATGCTGCCCAGAGACACTGTGAACACACAAAATCTCTC
TCTCCATTCAATGATGTTGTGGATAAGACTCCTGTCATCCGCTCAGTGATACTGAAACTGCTTTTGAAGTACAGCTTTCATGATGTAAAA
GATTATATTCAGGAATATTTGACCCTGTTAAAAAAGAAAGCATTCATAACTGAAGATAAAACTGAACTGTACATGCTCTTCATCAACTGC
CTGGAGGATTCAATACTTGAGAAGACCAGTGCTTACTCCAGAAATGATGAACTGAACCACCTAGAAGAGGAAGGTCGTTTCCTTAAGGCA
TATTCTCCAGCAAGCCGGGGCCGAGAGCCTGCCAACGAGGCCTCGGTTGAATACCTGCAAGAGGTGGCCCGGATCCGCCTCTGCCTCGAC
AGAGCTGCAGATTTCCTCTCGGAGCCTGAGGGAGGCCCAGAGATGGCCAAGGAGAAGCAGTGCTACCTGCAGCAAGTCAAGCAGTTCTGT
ATCCGGGTGGAGAACGACTGGCACCGGGTGTACCTGGTGCGGAAGCTCAGCAGCCAGCGGGGGATGGAGTTCGTGCAGGGCCTCTCCAAG
CCCGGCCGCCCGCACCAGTGGGTGTTTCCCAAGGACGTTGTCAAGCAGCAGGGGCTGCGGCAGGACCACCCAGGCCAGATGGATAGGTAC
CTGGTGTACGGCGATGAATACAAGGCTCTCCGTGATGCTGTGGCCAAAGCTGTCCTCGAGTGCAAGCCACTGGGCATTAAGACTGCTCTG
AAGGCCTGCAAGACCCCCCAAAGCCAGCAGTCAGCCTACTTCCTGTTAACACTGTTTAGAGAGGTGGCTATTTTGTACAGATCCCACAAT
GCAAGCCTCCACCCCACGCCAGAGCAATGTGAAGCTGTGAGCAAATTCATTGGCGAATGCAAGATCCTTTCACCTCCTGATATCAGCCGT
TTTGCAACATCGCTCGTGGACAATTCTGTGCCATTGTTGAGGGCGGGGCCTAGTGACAGCAACCTTGATGGAACGGTGACAGAAATGGCC
ATTCATGCTGCAGCCGTCCTTCTGTGTGGACAGAATGAACTCTTGGAGCCCCTAAAGAATCTGGCCTTCTCCCCAGCCACCATGGCGCAT
GCTTTTCTTCCAACCATGCCTGAAGACTTGCTGGCTCAAGCTCGGAGGTGGAAGGGTCTGGAGCGAGTCCACTGGTACACTTGTCCCAAC
GGCCATCCTTGCTCCGTGGGAGAGTGTGGCAGGCCGATGGAACAGAGCATCTGCATTGACTGCCATGCGCCGATTGGAGGCATTGACCAC
AAACCTCGGGACGGCTTTCATCTGGTCAAAGACAAGGCAGACAGAACGCAGACCGGCCACGTGCTGGGCAACCCGCAGCGGAGAGACGTG
GTGACATGTGACCGAGGGCTGCCCCCAGTGGTCTTCCTCCTTATCCGGCTACTCACTCACTTGGCTCTGCTTCTGGGAGCGTCCCAGAGT
TCCCAGGCTCTGATAAACATCATTAAGCCTCCAGTGAGGGATCCAAAAGGCTTTCTGCAGCAGCACATCCTGAAGGACCTGGAGCAGTTG
GCCAAGATGCTGGGACACAGTGCCGACGAGACCATCGGCGTGGTCCACCTCGTCCTGCGCAGGCTTCTCCAAGAGCAGCACCAGCTCTCT
AGCAGAAGGCTTTTAAATTTTGACACAGAATTGTCAACTAAAGAAATGAGGAACAACTGGGAAAAGGAAATCGCAGCTGTGATTTCTCCT
GAACTGGAGCATCTAGATAAAACCCTTCCCACCATGAATAATCTCATCAGCCAAGATAAGCGTATCAGCTCTAACCCTGTGGCCAAAATA
ATATATGGTGACCCAGTGACCTTCCTGCCCCACCTGCCCCGGAAAAGTGTGGTCCATTGCTCTAAGATTTGGAGCTGCAGGAAAAGAATT
ACAGTTGAGTACCTCCAGCACATTGTGGAACAGAAAAATGGCAAAGAAAGAGTGCCCATCCTCTGGCATTTCCTGCAGAAGGAAGCAGAG
CTGAGGCTGGTAAAGTTCCTGCCTGAGATTTTGGCCTTGCAAAGGGATCTAGTGAAGCAGTTCCAGAACGTCCAGCAAGTTGAATACAGC
TCCATCAGAGGCTTCCTCAGCAAGCACAGCTCAGATGGGTTGAGGCAGCTGCTTCACAACAGGATCACAGTCTTTCTGTCCACATGGAAC
AAACTGAGGAGATCGCTTGAGACGAACGGTGAGATCAACCTACCCAAAGACTACTGCAGCACTGACTTGGATCTGGACACTGAGTTTGAG
ATCCTCTTGCCACGCCGACGGGGCCTGGGCCTCTGTGCTACCGCTCTCGTCAGCTACTTGATTCGCCTACACAATGAAATTGTCTACGCC
GTGGAAAAACTCTCCAAGGAAAACAACAGCTATTCCGTGGATGCCGCCGAGGTCACTGAACTGCATGTCATCAGTTATGAAGTGGAGCGG
GACCTGACTCCACTGATTCTCTCCAACTGCCAGTACCAGGTGGAGGAGGGCAGAGAGACCGTGCAGGAGTTCGATCTGGAGAAGATTCAG
CGGCAGATCGTCAGCCGCTTCCTCCAGGGCAAGCCCCGGCTGAGCCTCAAGGGAATACCCACTCTGGTGTACAGACACGACTGGAACTAT
GAACATCTCTTTATGGACATCAAGAACAAAATGGCACAGGACTCCCTCCCCAGCTCGGTCATTAGTGCCATCAGTGGACAGCTGCAGTCC
TACAGCGATGCCTGTGAAGTGCTGTCTGTCGTAGAAGTCACTCTGGGGTTTCTGAGCACAGCTGGTGGGGATCCAAACATGCAGCTGAAT
GTGTATACTCAAGACATCCTGCAAATGGGTGATCAGACGATTCACGTGTTAAAGGCCTTAAACAGATGCCAGTTAAAACACACCATTGCC
CTCTGGCAGTTCCTGTCTGCTCATAAGTCTGAACAGCTGCTGCGGCTGCACAAAGAGCCATTTGGGGAAATCAGTTCAAGGTACAAAGCG
GATCTGAGCCCGGAAAATGCTAAGCTCCTCAGCACATTCCTAAATCAGACTGGCCTAGACGCCTTCCTGCTAGAGCTGCACGAAATGATA
ATCTTGAAACTAAAGAACCCCCAAACCCAAACCGAGGAGCGCTTCCGCCCTCAGTGGAGCCTGAGAGACACTCTCGTAAGTTACATGCAA
ACTAAAGAAAGTGAAATTCTTCCTGAAATGGCATCTCAGTTCCCAGAAGAGATACTGCTCGCCAGCTGTGTCTCAGTGTGGAAAACAGCT
GCTGTGCTGAAATGGAATCGAGAAATGAGATAGAATTATTTCCTCAGCTATCTTTGGATGACTTTGGAGAGAAGACTCCTCTCTCCTCGT
CTGCGGCGTGGACTTGATCATGGACTGGTGCCTTTGCATTCAGAAGGAGAGCTGTCAGCGTAGCACCGAATTCAAGACCAAGGCGTGCTA
CCTGAGCTGACAGCTTTTTGAAAGCCGAGCTGTTTCTGAACCATGTACATACATGTTCTGAAACTTTCTCATCATTTTATGAGTACTGTT
CATTGAGAGATGACAATGAAGATTAGATGAAATTGGAAATAAACCAACATTGTTTACATTCCAGGAGACTTGTAGCTCAGCCACACACGC
AGTAATGACCTGTGCCCGTTCGCCTCTGGCACTGCCCACCCCTCTTTTTTTTTTTCTTCTAATTCTGTACTCACAAAAGAGAATCTCATT
TTCTTCTTTCTTCCATTCCCTTAAATTCTGAGTACTGTACATATATTTCTGGGTTCCCACGATGATGTGAAAAACTACCAGACTGTTTTT
TGTCTTCTCACAAAGACAAGAAAAATCAGGGCATTTTGTGAGTGCCTTAAGATCAAACTAACAAGATCTGACCCTCTCCCCTCACAGTGA
GCCACTGCCCCACTTCAGAGGGTAAGAGCCAAAAGCCTCATTGTGAAAGGCACTGGACTTGGACCAGGGACACCATCAGGGCCTTGGTTT
TCTCACGCATAAAATGGAGAGTGGATTAATCGCCAAAGATTCTTCTGATCTGACATTTTGAAATTGTGAGAGAAACTAGATGACTGTAAA
CTTGGTCACAGGCCTGGTTCTGGCAGTTCTTTGCGGACTTTTTTCTAGCATTATGCCAAATAAACATGCAGTCTCAGTGTGCTCTCGCAT
GTATGAATATCTAGTCCTTTCTGTGGTTCTCAGCCAAGACATAAAAACTAGGACTCAGAGCACATACAAAACCAGTTATGTTTCGGAAAG
AGGGAAAAGAGTCCCCGAGCCCGGATCTTGTGCTGCTTTTCTCACTGACGTGTTGCCTTTTTTCTTTACAAAATCTGCTTTGATACTTAG
GACCTCTCTGGACTAATTTCTCTTCCTAGACAGCTCAGCACAGCTATTGATATGTTAGAGGCAGTATCCTTAATATTCATTCTAAATGAG
TTAACGACTTAACTTGAAATTGGGCCTAAGGAGTGAGAACTACAAAAATACAAAATGCTTGTCCAGGACTCAGCCATGCACACCTTGAGC
AGCGCCGGCAGGAGGCACGGAAGGAACTGTGCTCCGTTCTCCTCACTGTCATGGTGCCACCAGTGTCTGATGAAGGGCAGAGTGACCCAG
ACTGCAGGCAGTAACTGACTTCACACAGTCCCTGGCATTTAGTCATCTGTGATTGTTTTATCACTCTGGACTGTGCAGAGCCACCTGCCA
CCGAGATCTGCATTCCGACTGCCTATGAACGGGTGTGGGGGCCGGGGGCTGGCTTGCTGAAGTCTTCAACTTGCACTCGGAGCTCCTTTG
ATACCTCAGAGCTGGCTGTCAGGTGGCAGCTCACACCCAGACTCACTGGCCACACCTCAGCAGGGGGGGAGTCGAGTGTCAGTCTCTTTC
TGTGAAGGCTTTTTTTTTCCTTTGGCCTGGGAATTTTTCCCATTTTTATGAAGGGGTTTTAAATTGTTTCATTTTGTGTGCTGTGCTTCA
AAGCCTTAACTGTCAAATCTTGCATTATCTTGTTTGTACAGAAATATACTGGCCTAGCAGAGGCAAAAAAAAAAAAAATGAATTTTATTT

>In-frame_ENST00000544334_ENST00000508628_TCGA-BH-A0DX-01A_RPTOR_chr17_78617610_-_RNF213_chr17_78341548_length(amino acids)=1384AA_start in transcript=108_stop in transcript=4262
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRCLRENSDVKTHGPFEAVMRTLCECKETASKTLSRFGIQPCSICLGD
AKDPVCLPCDHVHCLRCLRAWFASEQMICPYCLTALPDEFSPAVSQAHREAIEKHARFRQMCNSFFVDLVSTICFKDNAPPEKEVIESLL
SLLFVQKGRLRDAAQRHCEHTKSLSPFNDVVDKTPVIRSVILKLLLKYSFHDVKDYIQEYLTLLKKKAFITEDKTELYMLFINCLEDSIL
EKTSAYSRNDELNHLEEEGRFLKAYSPASRGREPANEASVEYLQEVARIRLCLDRAADFLSEPEGGPEMAKEKQCYLQQVKQFCIRVEND
WHRVYLVRKLSSQRGMEFVQGLSKPGRPHQWVFPKDVVKQQGLRQDHPGQMDRYLVYGDEYKALRDAVAKAVLECKPLGIKTALKACKTP
QSQQSAYFLLTLFREVAILYRSHNASLHPTPEQCEAVSKFIGECKILSPPDISRFATSLVDNSVPLLRAGPSDSNLDGTVTEMAIHAAAV
LLCGQNELLEPLKNLAFSPATMAHAFLPTMPEDLLAQARRWKGLERVHWYTCPNGHPCSVGECGRPMEQSICIDCHAPIGGIDHKPRDGF
HLVKDKADRTQTGHVLGNPQRRDVVTCDRGLPPVVFLLIRLLTHLALLLGASQSSQALINIIKPPVRDPKGFLQQHILKDLEQLAKMLGH
SADETIGVVHLVLRRLLQEQHQLSSRRLLNFDTELSTKEMRNNWEKEIAAVISPELEHLDKTLPTMNNLISQDKRISSNPVAKIIYGDPV
TFLPHLPRKSVVHCSKIWSCRKRITVEYLQHIVEQKNGKERVPILWHFLQKEAELRLVKFLPEILALQRDLVKQFQNVQQVEYSSIRGFL
SKHSSDGLRQLLHNRITVFLSTWNKLRRSLETNGEINLPKDYCSTDLDLDTEFEILLPRRRGLGLCATALVSYLIRLHNEIVYAVEKLSK
ENNSYSVDAAEVTELHVISYEVERDLTPLILSNCQYQVEEGRETVQEFDLEKIQRQIVSRFLQGKPRLSLKGIPTLVYRHDWNYEHLFMD
IKNKMAQDSLPSSVISAISGQLQSYSDACEVLSVVEVTLGFLSTAGGDPNMQLNVYTQDILQMGDQTIHVLKALNRCQLKHTIALWQFLS
AHKSEQLLRLHKEPFGEISSRYKADLSPENAKLLSTFLNQTGLDAFLLELHEMIILKLKNPQTQTEERFRPQWSLRDTLVSYMQTKESEI

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Fusion Gene PPI Analysis for RPTOR-RNF213


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-RNF213


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-RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPTORC0028043Nicotine Dependence1CTD_human
HgeneRPTORC0040332Tobacco Dependence1CTD_human
HgeneRPTORC0376384Nicotine Use Disorder1CTD_human
TgeneRNF213C1846689MOYAMOYA DISEASE 29CTD_human;UNIPROT
TgeneRNF213C0026654Moyamoya Disease3ORPHANET
TgeneRNF213C2931384Moyamoya disease 13ORPHANET