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	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:RABEPK-PIK3R1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: RABEPK-PIK3R1
	FusionPDB ID: 71536
	FusionGDB2.0 ID: 71536
		Hgene	Tgene
	Gene symbol	RABEPK	PIK3R1
	Gene ID	10244	5295
	Gene name	Rab9 effector protein with kelch motifs	phosphoinositide-3-kinase regulatory subunit 1
	Synonyms	RAB9P40\|bA65N13.1\|p40	AGM7\|GRB1\|IMD36\|p85\|p85-ALPHA
	Cytomap	9q33.3	5q13.1
	Type of gene	protein-coding	protein-coding
	Description	rab9 effector protein with kelch motifs40 kDa Rab9 effector proteinRab9 effector p40	phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph
	Modification date	20200313	20200327
	UniProtAcc	.	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000259460, ENST00000373538, ENST00000373544, ENST00000394124, ENST00000394125,	ENST00000274335, ENST00000320694, ENST00000336483, ENST00000396611, ENST00000517643, ENST00000523872, ENST00000521381, ENST00000521657,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	4 X 4 X 3=48	9 X 9 X 4=324
	# samples	4	9
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: RABEPK [Title/Abstract] AND PIK3R1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	RABEPK(127970000)-PIK3R1(67569218), # samples:2
Anticipated loss of major functional domain due to fusion event.	RABEPK-PIK3R1 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. RABEPK-PIK3R1 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. RABEPK-PIK3R1 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. RABEPK-PIK3R1 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
Tgene	PIK3R1	GO:0014065	phosphatidylinositol 3-kinase signaling	7782332
Tgene	PIK3R1	GO:0034976	response to endoplasmic reticulum stress	20348923
Tgene	PIK3R1	GO:0042307	positive regulation of protein import into nucleus	20348923
Tgene	PIK3R1	GO:0048009	insulin-like growth factor receptor signaling pathway	7782332
Tgene	PIK3R1	GO:0050821	protein stabilization	20348923
Tgene	PIK3R1	GO:0060396	growth hormone receptor signaling pathway	7782332

Fusion gene breakpoints across RABEPK (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 PIK3R1 (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	LUSC	TCGA-18-3421-01A	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+
ChimerDB4	LUSC	TCGA-18-3421	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+

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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)
ENST00000259460	RABEPK	chr9	127970000	+	ENST00000521381	PIK3R1	chr5	67569218	+	6441	380	124	2220	698
ENST00000259460	RABEPK	chr9	127970000	+	ENST00000521657	PIK3R1	chr5	67569218	+	3373	380	124	2220	698
ENST00000394125	RABEPK	chr9	127970000	+	ENST00000521381	PIK3R1	chr5	67569218	+	6441	380	124	2220	698
ENST00000394125	RABEPK	chr9	127970000	+	ENST00000521657	PIK3R1	chr5	67569218	+	3373	380	124	2220	698
ENST00000373544	RABEPK	chr9	127970000	+	ENST00000521381	PIK3R1	chr5	67569218	+	6438	377	121	2217	698
ENST00000373544	RABEPK	chr9	127970000	+	ENST00000521657	PIK3R1	chr5	67569218	+	3370	377	121	2217	698
ENST00000394124	RABEPK	chr9	127970000	+	ENST00000521381	PIK3R1	chr5	67569218	+	6421	360	104	2200	698
ENST00000394124	RABEPK	chr9	127970000	+	ENST00000521657	PIK3R1	chr5	67569218	+	3353	360	104	2200	698
ENST00000373538	RABEPK	chr9	127970000	+	ENST00000521381	PIK3R1	chr5	67569218	+	6582	521	265	2361	698
ENST00000373538	RABEPK	chr9	127970000	+	ENST00000521657	PIK3R1	chr5	67569218	+	3514	521	265	2361	698

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
ENST00000259460	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.000590975	0.9994091
ENST00000259460	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.002227448	0.9977725
ENST00000394125	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.000590975	0.9994091
ENST00000394125	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.002227448	0.9977725
ENST00000373544	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.000588971	0.999411
ENST00000373544	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.002223075	0.9977769
ENST00000394124	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.000589443	0.9994105
ENST00000394124	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.002206994	0.99779296
ENST00000373538	ENST00000521381	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.000598456	0.99940157
ENST00000373538	ENST00000521657	RABEPK	chr9	127970000	+	PIK3R1	chr5	67569218	+	0.002092621	0.9979074

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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

>71536_71536_1_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000259460_PIK3R1_chr5_67569218_ENST00000521381_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_2_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000259460_PIK3R1_chr5_67569218_ENST00000521657_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_3_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000373538_PIK3R1_chr5_67569218_ENST00000521381_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_4_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000373538_PIK3R1_chr5_67569218_ENST00000521657_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_5_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000373544_PIK3R1_chr5_67569218_ENST00000521381_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_6_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000373544_PIK3R1_chr5_67569218_ENST00000521657_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_7_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000394124_PIK3R1_chr5_67569218_ENST00000521381_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_8_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000394124_PIK3R1_chr5_67569218_ENST00000521657_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_9_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000394125_PIK3R1_chr5_67569218_ENST00000521381_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

>71536_71536_10_RABEPK-PIK3R1_RABEPK_chr9_127970000_ENST00000394125_PIK3R1_chr5_67569218_ENST00000521657_length(amino acids)=698AA_BP=85
MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP
DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM
ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST
EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR
DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE
IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI
KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC

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

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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/chr9:127970000/chr5:67569218)
- 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
.	.
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: 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.

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

PIK3R1

chr9:127970000

chr5:67569218

ENST00000274335

113_301

111.33333333333333

725.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000274335

333_428

111.33333333333333

725.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000274335

624_718

111.33333333333333

725.0

Domain

SH2 2

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000320694

113_301

425.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000320694

333_428

425.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000320694

3_79

425.0

Domain

SH3

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000320694

624_718

425.0

Domain

SH2 2

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000336483

113_301

455.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000336483

333_428

455.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000336483

3_79

455.0

Domain

SH3

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000336483

624_718

455.0

Domain

SH2 2

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000396611

113_301

111.33333333333333

733.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000396611

333_428

111.33333333333333

733.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000396611

624_718

111.33333333333333

733.0

Domain

SH2 2

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521381

113_301

111.33333333333333

725.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521381

333_428

111.33333333333333

725.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521381

624_718

111.33333333333333

725.0

Domain

SH2 2

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521657

113_301

111.33333333333333

725.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521657

333_428

111.33333333333333

725.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521657

624_718

111.33333333333333

725.0

Domain

SH2 2

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000523872

113_301

362.0

Domain

Rho-GAP

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000523872

333_428

362.0

Domain

SH2 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000523872

3_79

362.0

Domain

SH3

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000523872

624_718

362.0

Domain

SH2 2

- 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

RABEPK

chr9:127970000

chr5:67569218

ENST00000259460

100_146

70.33333333333333

322.0

Repeat

Note=Kelch 2

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000259460

151_200

70.33333333333333

322.0

Repeat

Note=Kelch 3

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000259460

204_250

70.33333333333333

322.0

Repeat

Note=Kelch 4

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000259460

254_303

70.33333333333333

322.0

Repeat

Note=Kelch 5

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000259460

49_95

70.33333333333333

322.0

Repeat

Note=Kelch 1

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000373538

100_146

70.33333333333333

373.0

Repeat

Note=Kelch 2

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000373538

151_200

70.33333333333333

373.0

Repeat

Note=Kelch 3

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000373538

204_250

70.33333333333333

373.0

Repeat

Note=Kelch 4

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000373538

254_303

70.33333333333333

373.0

Repeat

Note=Kelch 5

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000373538

49_95

70.33333333333333

373.0

Repeat

Note=Kelch 1

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000394125

100_146

70.33333333333333

373.0

Repeat

Note=Kelch 2

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000394125

151_200

70.33333333333333

373.0

Repeat

Note=Kelch 3

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000394125

204_250

70.33333333333333

373.0

Repeat

Note=Kelch 4

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000394125

254_303

70.33333333333333

373.0

Repeat

Note=Kelch 5

Hgene

RABEPK

chr9:127970000

chr5:67569218

ENST00000394125

49_95

70.33333333333333

373.0

Repeat

Note=Kelch 1

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000274335

3_79

111.33333333333333

725.0

Domain

SH3

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000396611

3_79

111.33333333333333

733.0

Domain

SH3

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521381

3_79

111.33333333333333

725.0

Domain

SH3

Tgene

PIK3R1

chr9:127970000

chr5:67569218

ENST00000521657

3_79

111.33333333333333

725.0

Domain

SH3

Top

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 >>>1434_RABEPK_127970000_PIK3R1_67569218_ranked_0.pdb	RABEPK	127970000	127970000	ENST00000521657	PIK3R1	chr5	67569218	+	MDFGDSCQWPRPQDTMKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLALTLP DLAEQFAPPDIAPPLLIKLVEAIEKKGLECSTLYRTQSSSNLAELRQLLDCDTPSVDLEMIDVHVLADAFKRYLLDLPNPVIPAAVYSEM ISLAPEVQSSEEYIQLLKKLIRSPSIPHQYWLTLQYLLKHFFKLSQTSSKNLLNARVLSEIFSPMLFRFSAASSDNTENLIKVIEILIST EWNERQPAPALPPKPPKPTTVANNGMNNNMSLQDAEWYWGDISREEVNEKLRDTADGTFLVRDASTKMHGDYTLTLRKGGNNKLIKIFHR DGKYGFSDPLTFSSVVELINHYRNESLAQYNPKLDVKLLYPVSKYQQDQVVKEDNIEAVGKKLHEYNTQFQEKSREYDRLYEEYTRTSQE IQMKRTAIEAFNETIKIFEEQCQTQERYSKEYIEKFKREGNEKEIQRIMHNYDKLKSRISEIIDSRRRLEEDLKKQAAEYREIDKRMNSI KPDLIQLRKTRDQYLMWLTQKGVRQKKLNEWLGNENTEDQYSLVEDDEDLPHHDEKTWNVGSSNRNKAENLLRGKRDGTFLVRESSKQGC	698

Top

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.

RABEPK_pLDDT.png

PIK3R1_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.

Top

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

Top

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
RABEPK
PIK3R1

- 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

Top

Related Drugs to RABEPK-PIK3R1

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to RABEPK-PIK3R1

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