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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:SRGAP3-ITPR1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SRGAP3-ITPR1
	FusionPDB ID: 86389
	FusionGDB2.0 ID: 86389
		Hgene	Tgene
	Gene symbol	SRGAP3	ITPR1
	Gene ID	23380	3708
	Gene name	SLIT-ROBO Rho GTPase activating protein 2	inositol 1,4,5-trisphosphate receptor type 1
	Synonyms	ARHGAP34\|FNBP2\|SRGAP2A\|SRGAP3	ACV\|CLA4\|INSP3R1\|IP3R\|IP3R1\|PPP1R94\|SCA15\|SCA16\|SCA29
	Cytomap	1q32.1	3p26.1
	Type of gene	protein-coding	protein-coding
	Description	SLIT-ROBO Rho GTPase-activating protein 2SLIT-ROBO GAP2formin-binding protein 2rho GTPase-activating protein 34	inositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptor
	Modification date	20200313	20200327
	UniProtAcc	.	Q14643
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000360413, ENST00000383836, ENST00000433332,	ENST00000443694, ENST00000463980, ENST00000544951, ENST00000302640, ENST00000354582, ENST00000357086, ENST00000423119, ENST00000456211,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	12 X 10 X 10=1200	9 X 13 X 8=936
	# samples	18	16
	** MAII score	log2(18/1200*10)=-2.73696559416621 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(16/936*10)=-2.54843662469604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SRGAP3 [Title/Abstract] AND ITPR1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SRGAP3(9032196)-ITPR1(4808214), # samples:3
Anticipated loss of major functional domain due to fusion event.	SRGAP3-ITPR1 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. SRGAP3-ITPR1 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. SRGAP3-ITPR1 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. SRGAP3-ITPR1 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	SRGAP3	GO:0043547	positive regulation of GTPase activity	21148482
Hgene	SRGAP3	GO:0046847	filopodium assembly	22559944
Hgene	SRGAP3	GO:0051014	actin filament severing	21148482
Hgene	SRGAP3	GO:0060996	dendritic spine development	22559944
Hgene	SRGAP3	GO:2001223	negative regulation of neuron migration	22559944
Tgene	ITPR1	GO:0001666	response to hypoxia	19120137
Tgene	ITPR1	GO:0050849	negative regulation of calcium-mediated signaling	16793548

Fusion gene breakpoints across SRGAP3 (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 ITPR1 (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	CESC	TCGA-VS-A9UO-01A	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+
ChimerDB4	CESC	TCGA-VS-A9UO	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+

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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)
ENST00000383836	SRGAP3	chr3	9032196	-	ENST00000302640	ITPR1	chr3	4808214	+	7662	3314	338	6046	1902
ENST00000383836	SRGAP3	chr3	9032196	-	ENST00000354582	ITPR1	chr3	4808214	+	7662	3314	338	6046	1902
ENST00000383836	SRGAP3	chr3	9032196	-	ENST00000423119	ITPR1	chr3	4808214	+	7662	3314	338	6046	1902
ENST00000383836	SRGAP3	chr3	9032196	-	ENST00000456211	ITPR1	chr3	4808214	+	7424	3314	338	6046	1902
ENST00000383836	SRGAP3	chr3	9032196	-	ENST00000357086	ITPR1	chr3	4808214	+	7424	3314	338	6046	1902
ENST00000360413	SRGAP3	chr3	9032196	-	ENST00000302640	ITPR1	chr3	4808214	+	7424	3076	172	5808	1878
ENST00000360413	SRGAP3	chr3	9032196	-	ENST00000354582	ITPR1	chr3	4808214	+	7424	3076	172	5808	1878
ENST00000360413	SRGAP3	chr3	9032196	-	ENST00000423119	ITPR1	chr3	4808214	+	7424	3076	172	5808	1878
ENST00000360413	SRGAP3	chr3	9032196	-	ENST00000456211	ITPR1	chr3	4808214	+	7186	3076	172	5808	1878
ENST00000360413	SRGAP3	chr3	9032196	-	ENST00000357086	ITPR1	chr3	4808214	+	7186	3076	172	5808	1878

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
ENST00000383836	ENST00000302640	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000523026	0.99947697
ENST00000383836	ENST00000354582	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000523026	0.99947697
ENST00000383836	ENST00000423119	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000523026	0.99947697
ENST00000383836	ENST00000456211	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000604752	0.99939525
ENST00000383836	ENST00000357086	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000604752	0.99939525
ENST00000360413	ENST00000302640	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000593992	0.999406
ENST00000360413	ENST00000354582	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000593992	0.999406
ENST00000360413	ENST00000423119	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.000593992	0.999406
ENST00000360413	ENST00000456211	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.00069728	0.99930274
ENST00000360413	ENST00000357086	SRGAP3	chr3	9032196	-	ITPR1	chr3	4808214	+	0.00069728	0.99930274

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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

>86389_86389_1_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000360413_ITPR1_chr3_4808214_ENST00000302640_length(amino acids)=1878AA_BP=968
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRGRRNARTRNQDSGQAIPLVVESCIRYINLYG
LQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDLISTIKLENPAERVHQIQQILVTLP
RVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHHEAIFPSPRELEGPVYEKCMAGGEE
YCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASEDWWEGRHNGVDGLIPHQYIVVQDMD
DAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPS
SPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEALAEHSFFCRLTEDKKSEKFFKVFYD
RMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADK
AKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTE
YCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQG
EVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKE
SKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGL
LWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVIC
AMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFL
FSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVL
NLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNL

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>86389_86389_2_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000360413_ITPR1_chr3_4808214_ENST00000354582_length(amino acids)=1878AA_BP=968
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRGRRNARTRNQDSGQAIPLVVESCIRYINLYG
LQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDLISTIKLENPAERVHQIQQILVTLP
RVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHHEAIFPSPRELEGPVYEKCMAGGEE
YCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASEDWWEGRHNGVDGLIPHQYIVVQDMD
DAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPS
SPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEALAEHSFFCRLTEDKKSEKFFKVFYD
RMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADK
AKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTE
YCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQG
EVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKE
SKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGL
LWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVIC
AMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFL
FSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVL
NLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNL

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>86389_86389_3_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000360413_ITPR1_chr3_4808214_ENST00000357086_length(amino acids)=1878AA_BP=968
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRGRRNARTRNQDSGQAIPLVVESCIRYINLYG
LQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDLISTIKLENPAERVHQIQQILVTLP
RVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHHEAIFPSPRELEGPVYEKCMAGGEE
YCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASEDWWEGRHNGVDGLIPHQYIVVQDMD
DAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPS
SPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEALAEHSFFCRLTEDKKSEKFFKVFYD
RMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADK
AKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTE
YCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQG
EVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKE
SKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGL
LWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVIC
AMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFL
FSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVL
NLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNL

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

>86389_86389_4_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000360413_ITPR1_chr3_4808214_ENST00000423119_length(amino acids)=1878AA_BP=968
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRGRRNARTRNQDSGQAIPLVVESCIRYINLYG
LQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDLISTIKLENPAERVHQIQQILVTLP
RVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHHEAIFPSPRELEGPVYEKCMAGGEE
YCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASEDWWEGRHNGVDGLIPHQYIVVQDMD
DAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPS
SPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEALAEHSFFCRLTEDKKSEKFFKVFYD
RMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADK
AKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTE
YCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQG
EVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKE
SKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGL
LWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVIC
AMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFL
FSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVL
NLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNL

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

>86389_86389_5_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000360413_ITPR1_chr3_4808214_ENST00000456211_length(amino acids)=1878AA_BP=968
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRGRRNARTRNQDSGQAIPLVVESCIRYINLYG
LQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDLISTIKLENPAERVHQIQQILVTLP
RVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHHEAIFPSPRELEGPVYEKCMAGGEE
YCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASEDWWEGRHNGVDGLIPHQYIVVQDMD
DAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGGDTHSPPRGLGPSIDTPPRAAACPS
SPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEALAEHSFFCRLTEDKKSEKFFKVFYD
RMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFTTFRREADPDDHYQPGEGTQATADK
AKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALINQTLESLTE
YCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKELVEVIKKAYMQG
EVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEIVRLDRTMEQIVFPVPSICEFLTKE
SKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMNLLVAFFYPFKGVRGGTLEPHWSGL
LWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGTFTRGYRAMVLDVEFLYHLLYLVIC
AMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFILEVDRLPNETAVPETGESLASEFL
FSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSKEEPLFAARVIYDLLFFFMVIIIVL
NLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLVKVKDSTEYTGPESYVAEMIKERNL

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

>86389_86389_6_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000383836_ITPR1_chr3_4808214_ENST00000302640_length(amino acids)=1902AA_BP=992
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRPPCLPPKPQKMRRPRPLSVYSHKLFNGSMEA
FIKDSGQAIPLVVESCIRYINLYGLQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDL
ISTIKLENPAERVHQIQQILVTLPRVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHH
EAIFPSPRELEGPVYEKCMAGGEEYCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASED
WWEGRHNGVDGLIPHQYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGG
DTHSPPRGLGPSIDTPPRAAACPSSPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEAL
AEHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFT
TFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGL
GLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSEN
AERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEI
VRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMN
LLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGT
FTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFI
LEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSK
EEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLV
KVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGH

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

>86389_86389_7_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000383836_ITPR1_chr3_4808214_ENST00000354582_length(amino acids)=1902AA_BP=992
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRPPCLPPKPQKMRRPRPLSVYSHKLFNGSMEA
FIKDSGQAIPLVVESCIRYINLYGLQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDL
ISTIKLENPAERVHQIQQILVTLPRVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHH
EAIFPSPRELEGPVYEKCMAGGEEYCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASED
WWEGRHNGVDGLIPHQYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGG
DTHSPPRGLGPSIDTPPRAAACPSSPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEAL
AEHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFT
TFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGL
GLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSEN
AERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEI
VRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMN
LLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGT
FTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFI
LEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSK
EEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLV
KVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGH

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

>86389_86389_8_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000383836_ITPR1_chr3_4808214_ENST00000357086_length(amino acids)=1902AA_BP=992
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRPPCLPPKPQKMRRPRPLSVYSHKLFNGSMEA
FIKDSGQAIPLVVESCIRYINLYGLQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDL
ISTIKLENPAERVHQIQQILVTLPRVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHH
EAIFPSPRELEGPVYEKCMAGGEEYCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASED
WWEGRHNGVDGLIPHQYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGG
DTHSPPRGLGPSIDTPPRAAACPSSPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEAL
AEHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFT
TFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGL
GLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSEN
AERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEI
VRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMN
LLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGT
FTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFI
LEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSK
EEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLV
KVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGH

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

>86389_86389_9_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000383836_ITPR1_chr3_4808214_ENST00000423119_length(amino acids)=1902AA_BP=992
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRPPCLPPKPQKMRRPRPLSVYSHKLFNGSMEA
FIKDSGQAIPLVVESCIRYINLYGLQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDL
ISTIKLENPAERVHQIQQILVTLPRVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHH
EAIFPSPRELEGPVYEKCMAGGEEYCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASED
WWEGRHNGVDGLIPHQYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGG
DTHSPPRGLGPSIDTPPRAAACPSSPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEAL
AEHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFT
TFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGL
GLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSEN
AERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEI
VRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMN
LLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGT
FTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFI
LEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSK
EEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLV
KVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGH

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

>86389_86389_10_SRGAP3-ITPR1_SRGAP3_chr3_9032196_ENST00000383836_ITPR1_chr3_4808214_ENST00000456211_length(amino acids)=1902AA_BP=992
MCDYQGLREDSKRKGEINQTACQFLWPRQKMSSQTKFKKDKEIIAEYEAQIKEIRTQLVEQFKCLEQQSESRLQLLQDLQEFFRRKAEIE
LEYSRSLEKLAERFSSKIRSSREHQFKKDQYLLSPVNCWYLVLHQTRRESRDHATLNDIFMNNVIVRLSQISEDVIRLFKKSKEIGLQMH
EELLKVTNELYTVMKTYHMYHAESISAESKLKEAEKQEEKQFNKSGDLSMNLLRHEDRPQRRSSVKKIEKMKEKRQAKYSENKLKCTKAR
NDYLLNLAATNAAISKYYIHDVSDLIDCCDLGFHASLARTFRTYLSAEYNLETSRHEGLDVIENAVDNLDSRSDKHTVMDMCNQVFCPPL
KFEFQPHMGDEVCQVSAQQPVQTELLMRYHQLQSRLATLKIENEEVRKTLDATMQTLQDMLTVEDFDVSDAFQHSRSTESVKSAASETYM
SKINIAKRRANQQETEMFYFTKFKEYVNGSNLITKLQAKHDLLKQTLGEGERAECGTTRPPCLPPKPQKMRRPRPLSVYSHKLFNGSMEA
FIKDSGQAIPLVVESCIRYINLYGLQQQGIFRVPGSQVEVNDIKNSFERGEDPLVDDQNERDINSVAGVLKLYFRGLENPLFPKERFQDL
ISTIKLENPAERVHQIQQILVTLPRVVIVVMRYLFAFLNHLSQYSDENMMDPYNLAICFGPTLMHIPDGQDPVSCQAHINEVIKTIIIHH
EAIFPSPRELEGPVYEKCMAGGEEYCDSPHSEPGAIDEVDHDNGTEPHTSDEEVEQIEAIAKFDYMGRSPRELSFKKGASLLLYHRASED
WWEGRHNGVDGLIPHQYIVVQDMDDAFSDSLSQKADSEASSGPLLDDKASSKNDLQSPTEHISDYGFGGVMGRVRLRSDGAAIPRRRSGG
DTHSPPRGLGPSIDTPPRAAACPSSPHKIPLTRGRIESPEKRRMATFGSAGSINYPDKKALSEGHSMRSTCGSTRHSSLGDHKSLEAEAL
AEHSFFCRLTEDKKSEKFFKVFYDRMKVAQQEIKATVTVNTSDLGNKKKDDEVDRDAPSRKKAKEPTTQITEEVRDQLLEASAATRKAFT
TFRREADPDDHYQPGEGTQATADKAKDDLEMSAVITIMQPILRFLQLLCENHNRDLQNFLRCQNNKTNYNLVCETLQFLDCICGSTTGGL
GLLGLYINEKNVALINQTLESLTEYCQGPCHENQNCIATHESNGIDIITALILNDINPLGKKRMDLVLELKNNASKLLLAIMESRHDSEN
AERILYNMRPKELVEVIKKAYMQGEVEFEDGENGEDGAASPRNVGHNIYILAHQLARHNKELQSMLKPGGQVDGDEALEFYAKHTAQIEI
VRLDRTMEQIVFPVPSICEFLTKESKLRIYYTTERDEQGSKINDFFLRSEDLFNEMNWQKKLRAQPVLYWCARNMSFWSSISFNLAVLMN
LLVAFFYPFKGVRGGTLEPHWSGLLWTAMLISLAIVIALPKPHGIRALIASTILRLIFSVGLQPTLFLLGAFNVCNKIIFLMSFVGNCGT
FTRGYRAMVLDVEFLYHLLYLVICAMGLFVHEFFYSLLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIVGYLFFKDDFI
LEVDRLPNETAVPETGESLASEFLFSDVCRVESGENCSSPAPREELVPAEETEQDKEHTCETLLMCIVTVLSHGLRSGGGVGDVLRKPSK
EEPLFAARVIYDLLFFFMVIIIVLNLIFGVIIDTFADLRSEKQKKEEILKTTCFICGLERDKFDNKTVTFEEHIKEEHNMWHYLCFIVLV
KVKDSTEYTGPESYVAEMIKERNLDWFPRMRAMSLVSSDSEGEQNELRNLQEKLESTMKLVTNLSGQLSELKDQMTEQRKQKQRIGLLGH

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

Top

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/chr3:9032196/chr3:4808214)
- 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
.	ITPR1 Q14643
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: Intracellular channel that mediates calcium release from the endoplasmic reticulum following stimulation by inositol 1,4,5-trisphosphate (PubMed:27108797). Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1 (By similarity). Plays a role in ER stress-induced apoptosis. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CaM kinase II, eventually leading to the activation of downstream apoptosis pathways (By similarity). {ECO:0000250\|UniProtKB:P11881, ECO:0000269\|PubMed:27108797}.

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

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000360413

352_392

938.0

1076.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000383836

352_392

962.0

1100.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000360413

19_314

938.0

1076.0

Domain

F-BAR

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000360413

482_670

938.0

1076.0

Domain

Rho-GAP

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000360413

744_803

938.0

1076.0

Domain

SH3

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000383836

19_314

962.0

1100.0

Domain

F-BAR

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000383836

482_670

962.0

1100.0

Domain

Rho-GAP

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000383836

744_803

962.0

1100.0

Domain

SH3

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2304_2314

1833.0

2744.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2336_2361

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2383_2405

1833.0

2744.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2427_2448

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2470_2577

1833.0

2744.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2599_2758

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2304_2314

1800.0

2711.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2336_2361

1800.0

2711.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2383_2405

1800.0

2711.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2427_2448

1800.0

2711.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2470_2577

1800.0

2711.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2599_2758

1800.0

2711.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2304_2314

1833.0

2744.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2336_2361

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2383_2405

1833.0

2744.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2427_2448

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2470_2577

1833.0

2744.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2599_2758

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2304_2314

1785.0

2696.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2336_2361

1785.0

2696.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2383_2405

1785.0

2696.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2427_2448

1785.0

2696.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2470_2577

1785.0

2696.0

Topological domain

Lumenal

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2599_2758

1785.0

2696.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2283_2303

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2315_2335

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2362_2382

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2406_2426

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2449_2469

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

2578_2598

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2283_2303

1800.0

2711.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2315_2335

1800.0

2711.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2362_2382

1800.0

2711.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2406_2426

1800.0

2711.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2449_2469

1800.0

2711.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

2578_2598

1800.0

2711.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2283_2303

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2315_2335

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2362_2382

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2406_2426

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2449_2469

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

2578_2598

1833.0

2744.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2283_2303

1785.0

2696.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2315_2335

1785.0

2696.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2362_2382

1785.0

2696.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2406_2426

1785.0

2696.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2449_2469

1785.0

2696.0

Transmembrane

Helical

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

2578_2598

1785.0

2696.0

Transmembrane

Helical

- 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

SRGAP3

chr3:9032196

chr3:4808214

ENST00000360413

952_987

938.0

1076.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SRGAP3

chr3:9032196

chr3:4808214

ENST00000383836

952_987

962.0

1100.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

112_166

1833.0

2744.0

Domain

MIR 1

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

173_223

1833.0

2744.0

Domain

MIR 2

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

231_287

1833.0

2744.0

Domain

MIR 3

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

294_373

1833.0

2744.0

Domain

MIR 4

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

379_435

1833.0

2744.0

Domain

MIR 5

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

112_166

1800.0

2711.0

Domain

MIR 1

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

173_223

1800.0

2711.0

Domain

MIR 2

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

231_287

1800.0

2711.0

Domain

MIR 3

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

294_373

1800.0

2711.0

Domain

MIR 4

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

379_435

1800.0

2711.0

Domain

MIR 5

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

112_166

1833.0

2744.0

Domain

MIR 1

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

173_223

1833.0

2744.0

Domain

MIR 2

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

231_287

1833.0

2744.0

Domain

MIR 3

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

294_373

1833.0

2744.0

Domain

MIR 4

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

379_435

1833.0

2744.0

Domain

MIR 5

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

112_166

1785.0

2696.0

Domain

MIR 1

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

173_223

1785.0

2696.0

Domain

MIR 2

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

231_287

1785.0

2696.0

Domain

MIR 3

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

294_373

1785.0

2696.0

Domain

MIR 4

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

379_435

1785.0

2696.0

Domain

MIR 5

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

265_269

1833.0

2744.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

508_511

1833.0

2744.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

567_569

1833.0

2744.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

265_269

1800.0

2711.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

508_511

1800.0

2711.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

567_569

1800.0

2711.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

265_269

1833.0

2744.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

508_511

1833.0

2744.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

567_569

1833.0

2744.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

265_269

1785.0

2696.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

508_511

1785.0

2696.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

567_569

1785.0

2696.0

Region

Inositol 1%2C4%2C5-trisphosphate binding

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000302640

1_2282

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000357086

1_2282

1800.0

2711.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000443694

1_2282

1833.0

2744.0

Topological domain

Cytoplasmic

Tgene

ITPR1

chr3:9032196

chr3:4808214

ENST00000456211

1_2282

1785.0

2696.0

Topological domain

Cytoplasmic

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)

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.

SRGAP3_pLDDT.png

ITPR1_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
SRGAP3
ITPR1

- 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 SRGAP3-ITPR1

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to SRGAP3-ITPR1

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