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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:IST1-RBL2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: IST1-RBL2
	FusionPDB ID: 40334
	FusionGDB2.0 ID: 40334
		Hgene	Tgene
	Gene symbol	IST1	RBL2
	Gene ID	9798	5934
	Gene name	IST1 factor associated with ESCRT-III	RB transcriptional corepressor like 2
	Synonyms	CHMP8\|OLC1	P130\|Rb2
	Cytomap	16q22.2	16q12.2
	Type of gene	protein-coding	protein-coding
	Description	IST1 homologIST1, ESCRT-III associated factorIST1, endosomal sorting complex required for transport-III componentincreased sodium tolerance 1 homologoverexpressed in lung cancer 1putative MAPK-activating protein PM28	retinoblastoma-like protein 2130 kDa retinoblastoma-associated proteinPRB2RBR-2retinoblastoma-like 2retinoblastoma-related protein 2
	Modification date	20200313	20200320
	UniProtAcc	P53990	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000538565, ENST00000329908, ENST00000378798, ENST00000378799, ENST00000535424, ENST00000538850, ENST00000541571, ENST00000544564, ENST00000606369,	ENST00000262133, ENST00000379935, ENST00000544545,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	12 X 6 X 4=288	7 X 6 X 4=168
	# samples	13	7
	** MAII score	log2(13/288*10)=-1.14755718841386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: IST1 [Title/Abstract] AND RBL2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	IST1(71956583)-RBL2(53493362), # samples:1
Anticipated loss of major functional domain due to fusion event.	IST1-RBL2 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. IST1-RBL2 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. IST1-RBL2 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. IST1-RBL2 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	IST1	GO:0009838	abscission	19129479\|19129480
Hgene	IST1	GO:0019076	viral release from host cell	19129479
Hgene	IST1	GO:0045862	positive regulation of proteolysis	20849418
Hgene	IST1	GO:0046745	viral capsid secondary envelopment	19129479
Tgene	RBL2	GO:0043550	regulation of lipid kinase activity	16286473

Fusion gene breakpoints across IST1 (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 RBL2 (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	ESCA	TCGA-L5-A893	IST1	chr16	71956583	+	RBL2	chr16	53493362	+

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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)
ENST00000544564	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	4671	1081	283	3321	1012
ENST00000541571	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	5050	1460	662	3700	1012
ENST00000535424	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	4504	914	116	3154	1012
ENST00000378799	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	4705	1115	356	3355	999
ENST00000606369	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	3967	377	62	2617	851
ENST00000329908	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	4411	821	62	3061	999
ENST00000538850	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	4034	444	129	2684	851
ENST00000378798	IST1	chr16	71956583	+	ENST00000262133	RBL2	chr16	53493362	+	4401	811	52	3051	999

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
ENST00000544564	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000372804	0.99962723
ENST00000541571	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000707369	0.9992926
ENST00000535424	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000327887	0.9996722
ENST00000378799	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000219544	0.9997805
ENST00000606369	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000184158	0.9998159
ENST00000329908	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000152512	0.9998474
ENST00000538850	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000211723	0.99978834
ENST00000378798	ENST00000262133	IST1	chr16	71956583	+	RBL2	chr16	53493362	+	0.000147771	0.9998522

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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

>40334_40334_1_IST1-RBL2_IST1_chr16_71956583_ENST00000329908_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=999AA_BP=253
MLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCDLLLARFGLIQSMK
ELDSGLAESVSTLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVPYEPD
SVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPSKALRISTPLTGVRYIK
ENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEIASKHFRFAEMLYY
KVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDGLCREVVKHLNQIE
EQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLYDRYSSPPASTTRR
RLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGITFFPVQVNVGGQA
QAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLAAVRLRDLCAKLDI
SDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQ
NSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQANMDAPPLSPYPFV
RTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRICPENHSALLRRLQ

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>40334_40334_2_IST1-RBL2_IST1_chr16_71956583_ENST00000378798_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=999AA_BP=253
MLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCDLLLARFGLIQSMK
ELDSGLAESVSTLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVPYEPD
SVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPSKALRISTPLTGVRYIK
ENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEIASKHFRFAEMLYY
KVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDGLCREVVKHLNQIE
EQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLYDRYSSPPASTTRR
RLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGITFFPVQVNVGGQA
QAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLAAVRLRDLCAKLDI
SDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQ
NSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQANMDAPPLSPYPFV
RTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRICPENHSALLRRLQ

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

>40334_40334_3_IST1-RBL2_IST1_chr16_71956583_ENST00000378799_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=999AA_BP=253
MLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCDLLLARFGLIQSMK
ELDSGLAESVSTLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVPYEPD
SVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPSKALRISTPLTGVRYIK
ENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEIASKHFRFAEMLYY
KVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDGLCREVVKHLNQIE
EQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLYDRYSSPPASTTRR
RLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGITFFPVQVNVGGQA
QAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLAAVRLRDLCAKLDI
SDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQ
NSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQANMDAPPLSPYPFV
RTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRICPENHSALLRRLQ

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

>40334_40334_4_IST1-RBL2_IST1_chr16_71956583_ENST00000535424_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=1012AA_BP=266
MVFKLKTKEEQHSMLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCD
LLLARFGLIQSMKELDSGLAESVSTLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLI
EIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPSKAL
RISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEI
ASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDG
LCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLY
DRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGI
TFFPVQVNVGGQAQAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLA
AVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRK
RRNSGSSDSRSHQNSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQA
NMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRI

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>40334_40334_5_IST1-RBL2_IST1_chr16_71956583_ENST00000538850_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=851AA_BP=105
MHKLSVEAPPKILVERYLIEIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPM
PSANTPFSYPLPKGPSKALRISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFE
IYSQHFQPDEDFSNCAKEIASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFD
VPLYHFYKVIEVFIRAEDGLCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTE
VRADTGGLGRSITSPTTLYDRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTAN
NGQTVTIPVQGIANENGGITFFPVQVNVGGQAQAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSN
RPRKTSSLSLFFRKVYHLAAVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRT
QPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQNSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQF
YNNIYIKQIKTFAMKYSQANMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETP

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>40334_40334_6_IST1-RBL2_IST1_chr16_71956583_ENST00000541571_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=1012AA_BP=266
MVFKLKTKEEQHSMLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCD
LLLARFGLIQSMKELDSGLAESVSTLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLI
EIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPSKAL
RISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEI
ASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDG
LCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLY
DRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGI
TFFPVQVNVGGQAQAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLA
AVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRK
RRNSGSSDSRSHQNSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQA
NMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRI

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>40334_40334_7_IST1-RBL2_IST1_chr16_71956583_ENST00000544564_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=1012AA_BP=266
MVFKLKTKEEQHSMLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHIIREDYLVEAMEILELYCD
LLLARFGLIQSMKELDSGLAESVSTLIWAAPRLQSEVAELKIVADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLI
EIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPMPSANTPFSYPLPKGPSKAL
RISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFEIYSQHFQPDEDFSNCAKEI
ASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFDVPLYHFYKVIEVFIRAEDG
LCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTEVRADTGGLGRSITSPTTLY
DRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTANNGQTVTIPVQGIANENGGI
TFFPVQVNVGGQAQAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSNRPRKTSSLSLFFRKVYHLA
AVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRTQPQARSQVYRSVLIKGKRK
RRNSGSSDSRSHQNSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQFYNNIYIKQIKTFAMKYSQA
NMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETPTKKRGILLEDGSESPAKRI

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

>40334_40334_8_IST1-RBL2_IST1_chr16_71956583_ENST00000606369_RBL2_chr16_53493362_ENST00000262133_length(amino acids)=851AA_BP=105
MHKLSVEAPPKILVERYLIEIAKNYNVPYEPDSVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPM
PSANTPFSYPLPKGPSKALRISTPLTGVRYIKENSPCVTPVSTATHSLSRLHTMLTGLRNAPSEKLEQILRTCSRDPTQAIANRLKEMFE
IYSQHFQPDEDFSNCAKEIASKHFRFAEMLYYKVLESVIEQEQKRLGDMDLSGILEQDAFHRSLLACCLEVVTFSYKPPGNFPFITEIFD
VPLYHFYKVIEVFIRAEDGLCREVVKHLNQIEEQILDHLAWKPESPLWEKIRDNENRVPTCEEVMPPQNLERADEICIAGSPLTPRRVTE
VRADTGGLGRSITSPTTLYDRYSSPPASTTRRRLFVENDSPSDGGTPGRMPPQPLVNAVPVQNVSGETVSVTPVPGQTLVTMATATVTAN
NGQTVTIPVQGIANENGGITFFPVQVNVGGQAQAVTGSIQPLSAQALAGSLSSQQVTGTTLQVPGQVAIQQISPGGQQQKQGQSVTSSSN
RPRKTSSLSLFFRKVYHLAAVRLRDLCAKLDISDELRKKIWTCFEFSIIQCPELMMDRHLDQLLMCAIYVMAKVTKEDKSFQNIMRCYRT
QPQARSQVYRSVLIKGKRKRRNSGSSDSRSHQNSPTELNKDRTSRDSSPVMRSSSTLPVPQPSSAPPTPTRLTGANSDMEEEERGDLIQF
YNNIYIKQIKTFAMKYSQANMDAPPLSPYPFVRTGSPRRIQLSQNHPVYISPHKNETMLSPREKIFYYFSNSPSKRLREINSMIRTGETP

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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/chr16:71956583/chr16:53493362)
- 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
IST1 P53990	.
FUNCTION: ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888). {ECO:0000269\|PubMed:19129479, ECO:0000269\|PubMed:19129480, ECO:0000269\|PubMed:23897888, ECO:0000269\|PubMed:26040712}.	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

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

998_1001

393.0

1140.0

Compositional bias

Note=Poly-Glu

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

417_1024

393.0

1140.0

Region

Note=Pocket%3B binds E1A

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

417_616

393.0

1140.0

Region

Note=Domain A

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

617_827

393.0

1140.0

Region

Note=Spacer

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

828_1024

393.0

1140.0

Region

Note=Domain B

- 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

IST1

chr16:71956583

chr16:53493362

ENST00000329908

321_332

253.0

361.0

Motif

Note=Type-2 MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000329908

351_361

253.0

361.0

Motif

Note=MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000378798

321_332

253.0

336.0

Motif

Note=Type-2 MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000378798

351_361

253.0

336.0

Motif

Note=MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000378799

321_332

253.0

367.0

Motif

Note=Type-2 MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000378799

351_361

253.0

367.0

Motif

Note=MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000535424

321_332

266.0

380.0

Motif

Note=Type-2 MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000535424

351_361

266.0

380.0

Motif

Note=MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000541571

321_332

253.0

367.0

Motif

Note=Type-2 MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000541571

351_361

253.0

367.0

Motif

Note=MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000544564

321_332

253.0

367.0

Motif

Note=Type-2 MIT-interacting motif

Hgene

IST1

chr16:71956583

chr16:53493362

ENST00000544564

351_361

253.0

367.0

Motif

Note=MIT-interacting motif

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

17_20

393.0

1140.0

Compositional bias

Note=Poly-Ala

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

23_26

393.0

1140.0

Compositional bias

Note=Poly-Glu

Tgene

RBL2

chr16:71956583

chr16:53493362

ENST00000262133

9_16

393.0

1140.0

Compositional bias

Note=Poly-Pro

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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
IST1
RBL2

- 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
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000329908	+	7	10	64_279	253.0	361.0	VPS37B
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000378798	+	7	9	64_279	253.0	336.0	VPS37B
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000378799	+	7	10	64_279	253.0	367.0	VPS37B
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000535424	+	7	10	64_279	266.0	380.0	VPS37B
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000541571	+	8	11	64_279	253.0	367.0	VPS37B
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000544564	+	9	12	64_279	253.0	367.0	VPS37B
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000329908	+	7	10	348_364	253.0	361.0	VPS4A%2C VTA1%2C MITD1 STAMBP and USP8
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000378798	+	7	9	348_364	253.0	336.0	VPS4A%2C VTA1%2C MITD1 STAMBP and USP8
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000378799	+	7	10	348_364	253.0	367.0	VPS4A%2C VTA1%2C MITD1 STAMBP and USP8
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000535424	+	7	10	348_364	266.0	380.0	VPS4A%2C VTA1%2C MITD1 STAMBP and USP8
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000541571	+	8	11	348_364	253.0	367.0	VPS4A%2C VTA1%2C MITD1 STAMBP and USP8
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000544564	+	9	12	348_364	253.0	367.0	VPS4A%2C VTA1%2C MITD1 STAMBP and USP8
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000329908	+	7	10	190_364	253.0	361.0	VTA1
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000378798	+	7	9	190_364	253.0	336.0	VTA1
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000378799	+	7	10	190_364	253.0	367.0	VTA1
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000535424	+	7	10	190_364	266.0	380.0	VTA1
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000541571	+	8	11	190_364	253.0	367.0	VTA1
Hgene	IST1	chr16:71956583	chr16:53493362	ENST00000544564	+	9	12	190_364	253.0	367.0	VTA1

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Related Drugs to IST1-RBL2

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to IST1-RBL2

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