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level2

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:RPTOR-IQCH

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: RPTOR-IQCH
	FusionPDB ID: 78229
	FusionGDB2.0 ID: 78229
		Hgene	Tgene
	Gene symbol	RPTOR	IQCH
	Gene ID	57521	128153
	Gene name	regulatory associated protein of MTOR complex 1	spermatogenesis associated 17
	Synonyms	KOG1\|Mip1	CFAP305\|FAP305\|IQCH\|MOT17\|MSRG-11\|MSRG11
	Cytomap	17q25.3	1q41
	Type of gene	protein-coding	protein-coding
	Description	regulatory-associated protein of mTORp150 target of rapamycin (TOR)-scaffold protein containing WD-repeatsraptor	spermatogenesis-associated protein 17IQ motif containing Hspermatogenesis-related protein 11
	Modification date	20200313	20200313
	UniProtAcc	.	Q86VS3
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000575542, ENST00000306801, ENST00000537330, ENST00000544334, ENST00000570891,	ENST00000335894, ENST00000358767, ENST00000360277, ENST00000546225, ENST00000512104, ENST00000560790,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	26 X 20 X 11=5720	8 X 11 X 6=528
	# samples	27	12
	** MAII score	log2(27/5720*10)=-4.40498383461492 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: RPTOR [Title/Abstract] AND IQCH [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	RPTOR(78829347)-IQCH(67692452), # samples:3
Anticipated loss of major functional domain due to fusion event.	RPTOR-IQCH 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. RPTOR-IQCH 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. RPTOR-IQCH 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. RPTOR-IQCH 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	RPTOR	GO:0031929	TOR signaling	20381137
Hgene	RPTOR	GO:0032008	positive regulation of TOR signaling	12150926\|18439900
Hgene	RPTOR	GO:0071233	cellular response to leucine	22424946
Hgene	RPTOR	GO:0071902	positive regulation of protein serine/threonine kinase activity	12150926

Fusion 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.

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

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	PRAD	TCGA-KK-A8ID-01A	RPTOR	chr17	78829347	-	IQCH	chr15	67692452	+
ChimerDB4	PRAD	TCGA-KK-A8ID-01A	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+
ChimerDB4	PRAD	TCGA-KK-A8ID	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000537330	RPTOR	chr17	78829347	+	ENST00000358767	IQCH	chr15	67692452	+	4300	2126	1256	3103	615
ENST00000537330	RPTOR	chr17	78829347	+	ENST00000546225	IQCH	chr15	67692452	+	4362	2126	1256	3304	682
ENST00000537330	RPTOR	chr17	78829347	+	ENST00000335894	IQCH	chr15	67692452	+	4363	2126	1256	3304	682
ENST00000537330	RPTOR	chr17	78829347	+	ENST00000360277	IQCH	chr15	67692452	+	4300	2126	1256	3103	615
ENST00000306801	RPTOR	chr17	78829347	+	ENST00000358767	IQCH	chr15	67692452	+	3934	1760	308	2737	809
ENST00000306801	RPTOR	chr17	78829347	+	ENST00000546225	IQCH	chr15	67692452	+	3996	1760	308	2938	876
ENST00000306801	RPTOR	chr17	78829347	+	ENST00000335894	IQCH	chr15	67692452	+	3997	1760	308	2938	876
ENST00000306801	RPTOR	chr17	78829347	+	ENST00000360277	IQCH	chr15	67692452	+	3934	1760	308	2737	809
ENST00000544334	RPTOR	chr17	78829347	+	ENST00000358767	IQCH	chr15	67692452	+	3734	1560	108	2537	809
ENST00000544334	RPTOR	chr17	78829347	+	ENST00000546225	IQCH	chr15	67692452	+	3796	1560	108	2738	876
ENST00000544334	RPTOR	chr17	78829347	+	ENST00000335894	IQCH	chr15	67692452	+	3797	1560	108	2738	876
ENST00000544334	RPTOR	chr17	78829347	+	ENST00000360277	IQCH	chr15	67692452	+	3734	1560	108	2537	809

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000537330	ENST00000358767	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.008390731	0.9916093
ENST00000537330	ENST00000546225	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.005240748	0.99475926
ENST00000537330	ENST00000335894	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.005242394	0.99475765
ENST00000537330	ENST00000360277	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.008390731	0.9916093
ENST00000306801	ENST00000358767	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.00207625	0.99792373
ENST00000306801	ENST00000546225	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.001280699	0.99871933
ENST00000306801	ENST00000335894	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.00128085	0.9987192
ENST00000306801	ENST00000360277	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.00207625	0.99792373
ENST00000544334	ENST00000358767	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.002073121	0.99792683
ENST00000544334	ENST00000546225	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.001254756	0.9987452
ENST00000544334	ENST00000335894	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.001255313	0.9987446
ENST00000544334	ENST00000360277	RPTOR	chr17	78829347	+	IQCH	chr15	67692452	+	0.002073121	0.99792683

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>78229_78229_1_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000306801_IQCH_chr15_67692452_ENST00000335894_length(amino acids)=876AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE
VPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQ

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

>78229_78229_2_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000306801_IQCH_chr15_67692452_ENST00000358767_length(amino acids)=809AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE

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

>78229_78229_3_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000306801_IQCH_chr15_67692452_ENST00000360277_length(amino acids)=809AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE

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

>78229_78229_4_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000306801_IQCH_chr15_67692452_ENST00000546225_length(amino acids)=876AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE
VPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQ

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

>78229_78229_5_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000537330_IQCH_chr15_67692452_ENST00000335894_length(amino acids)=682AA_BP=288
MSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELLPMIPDLPADLFTSC
LTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERI
MRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQLPIVLQVLLSQVHR
LRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVK
ISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVD
PQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKC
MSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQGVLMTFARHLFIIH

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

>78229_78229_6_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000537330_IQCH_chr15_67692452_ENST00000358767_length(amino acids)=615AA_BP=288
MSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELLPMIPDLPADLFTSC
LTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERI
MRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQLPIVLQVLLSQVHR
LRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVK
ISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVD
PQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKC

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

>78229_78229_7_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000537330_IQCH_chr15_67692452_ENST00000360277_length(amino acids)=615AA_BP=288
MSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELLPMIPDLPADLFTSC
LTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERI
MRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQLPIVLQVLLSQVHR
LRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVK
ISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVD
PQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKC

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

>78229_78229_8_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000537330_IQCH_chr15_67692452_ENST00000546225_length(amino acids)=682AA_BP=288
MSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELLPMIPDLPADLFTSC
LTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERI
MRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQLPIVLQVLLSQVHR
LRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVK
ISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVD
PQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKC
MSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQGVLMTFARHLFIIH

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

>78229_78229_9_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000544334_IQCH_chr15_67692452_ENST00000335894_length(amino acids)=876AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE
VPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQ

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

>78229_78229_10_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000544334_IQCH_chr15_67692452_ENST00000358767_length(amino acids)=809AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE

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

>78229_78229_11_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000544334_IQCH_chr15_67692452_ENST00000360277_length(amino acids)=809AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE

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>78229_78229_12_RPTOR-IQCH_RPTOR_chr17_78829347_ENST00000544334_IQCH_chr15_67692452_ENST00000546225_length(amino acids)=876AA_BP=482
MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP
PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG
EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL
PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL
VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ
LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE
DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP
FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE
VPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQ

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:78829347/chr15:67692452)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	IQCH Q86VS3
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: May play a regulatory role in spermatogenesis. {ECO:0000269\|PubMed:15897968}.

Retention 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.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

IQCH

chr17:78829347

chr15:67692452

ENST00000360277

369_398

296.0

1009.3333333333334

Domain

Tgene

IQCH

chr17:78829347

chr15:67692452

ENST00000512104

369_398

169.0

Domain

Tgene

IQCH

chr17:78829347

chr15:67692452

ENST00000546225

369_398

292.0

685.0

Domain

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

881_887

466.0

1336.0

Compositional bias

Note=Poly-Ser

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

881_887

380.0

Compositional bias

Note=Poly-Ser

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1020_1061

466.0

1336.0

Repeat

Note=WD 1

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1065_1106

466.0

1336.0

Repeat

Note=WD 2

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1121_1160

466.0

1336.0

Repeat

Note=WD 3

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1164_1203

466.0

1336.0

Repeat

Note=WD 4

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1209_1249

466.0

1336.0

Repeat

Note=WD 5

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1251_1291

466.0

1336.0

Repeat

Note=WD 6

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000306801

1299_1335

466.0

1336.0

Repeat

Note=WD 7

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1020_1061

380.0

Repeat

Note=WD 1

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1065_1106

380.0

Repeat

Note=WD 2

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1121_1160

380.0

Repeat

Note=WD 3

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1164_1203

380.0

Repeat

Note=WD 4

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1209_1249

380.0

Repeat

Note=WD 5

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1251_1291

380.0

Repeat

Note=WD 6

Hgene

RPTOR

chr17:78829347

chr15:67692452

ENST00000570891

1299_1335

380.0

Repeat

Note=WD 7

Tgene

IQCH

chr17:78829347

chr15:67692452

ENST00000335894

369_398

635.0

1028.0

Domain

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1664_RPTOR_78829347_IQCH_67692452_ranked_0.pdb	RPTOR	78829347	78829347	ENST00000360277	IQCH	chr15	67692452	+	MEVLERLLPRTPPPPPPLMESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDP PDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNG EVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPNHPLAQMPLPPSMKNCIQLAACEATELL PMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPGRLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLL VASLFRNFLLAERIMRSYNCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQ LPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLE DWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESP FISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLE VPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVEERQGTVFILYEHLKRHKLGMLTIGEDLQ	876

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

RPTOR_pLDDT.png

IQCH_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
RPTOR
IQCH

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to RPTOR-IQCH

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to RPTOR-IQCH

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source