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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ITPR1-SETMAR

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITPR1-SETMAR
FusionPDB ID: 40686
FusionGDB2.0 ID: 40686
HgeneTgene
Gene symbol

ITPR1

SETMAR

Gene ID

3708

6419

Gene nameinositol 1,4,5-trisphosphate receptor type 1SET domain and mariner transposase fusion gene
SynonymsACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29METNASE|Mar1
Cytomap

3p26.1

3p26.1

Type of geneprotein-codingprotein-coding
Descriptioninositol 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 receptorhistone-lysine N-methyltransferase SETMARSET domain and mariner transposase fusion gene-containing proteinSET domain and mariner transposase fusion protein
Modification date2020032720200313
UniProtAcc

Q14643

.
Ensembl transtripts involved in fusion geneENST idsENST00000354582, ENST00000357086, 
ENST00000423119, ENST00000544951, 
ENST00000302640, ENST00000443694, 
ENST00000456211, ENST00000463980, 
ENST00000462115, ENST00000430981, 
ENST00000358065, ENST00000425863, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 15 X 8=16802 X 3 X 2=12
# samples 163
** MAII scorelog2(16/1680*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITPR1 [Title/Abstract] AND SETMAR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITPR1(4695570)-SETMAR(4354582), # samples:2
Anticipated loss of major functional domain due to fusion event.ITPR1-SETMAR 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.
ITPR1-SETMAR 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.
ITPR1-SETMAR 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.
ITPR1-SETMAR 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.
ITPR1-SETMAR seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ITPR1-SETMAR seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneITPR1

GO:0001666

response to hypoxia

19120137

HgeneITPR1

GO:0050849

negative regulation of calcium-mediated signaling

16793548

TgeneSETMAR

GO:0000729

DNA double-strand break processing

21491884

TgeneSETMAR

GO:0000737

DNA catabolic process, endonucleolytic

20521842|21491884

TgeneSETMAR

GO:0006303

double-strand break repair via nonhomologous end joining

16332963

TgeneSETMAR

GO:0010452

histone H3-K36 methylation

16332963

TgeneSETMAR

GO:0051568

histone H3-K4 methylation

16332963

TgeneSETMAR

GO:2000373

positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity

18790802

TgeneSETMAR

GO:2001034

positive regulation of double-strand break repair via nonhomologous end joining

20620605|21491884

TgeneSETMAR

GO:2001251

negative regulation of chromosome organization

20620605


check buttonFusion gene breakpoints across ITPR1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRCTCGA-BP-5195-01AITPR1chr3

4695570

-SETMARchr3

4354582

+
ChimerDB4KIRCTCGA-BP-5195-01AITPR1chr3

4695570

+SETMARchr3

4354582

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000354582ITPR1chr34695570+ENST00000358065SETMARchr34354582+356613463053244979
ENST00000354582ITPR1chr34695570+ENST00000425863SETMARchr34354582+284713463052827840
ENST00000423119ITPR1chr34695570+ENST00000358065SETMARchr34354582+356613463053244979
ENST00000423119ITPR1chr34695570+ENST00000425863SETMARchr34354582+284713463052827840
ENST00000357086ITPR1chr34695570+ENST00000358065SETMARchr34354582+356413443033242979
ENST00000357086ITPR1chr34695570+ENST00000425863SETMARchr34354582+284513443032825840
ENST00000544951ITPR1chr34695570+ENST00000358065SETMARchr34354582+336411441033042979
ENST00000544951ITPR1chr34695570+ENST00000425863SETMARchr34354582+264511441032625840

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000354582ENST00000358065ITPR1chr34695570+SETMARchr34354582+0.0002304340.9997696
ENST00000354582ENST00000425863ITPR1chr34695570+SETMARchr34354582+0.0009993280.9990007
ENST00000423119ENST00000358065ITPR1chr34695570+SETMARchr34354582+0.0002304340.9997696
ENST00000423119ENST00000425863ITPR1chr34695570+SETMARchr34354582+0.0009993280.9990007
ENST00000357086ENST00000358065ITPR1chr34695570+SETMARchr34354582+0.0002239760.99977607
ENST00000357086ENST00000425863ITPR1chr34695570+SETMARchr34354582+0.0009738220.9990262
ENST00000544951ENST00000358065ITPR1chr34695570+SETMARchr34354582+0.0002658120.9997342
ENST00000544951ENST00000425863ITPR1chr34695570+SETMARchr34354582+0.0010604140.9989396

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Fusion Amino Acid Sequences


check button 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

>40686_40686_1_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000354582_SETMAR_chr3_4354582_ENST00000358065_length(amino acids)=979AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGRFVCEYAGEVLGFSEVQRRIHLQTKSDSNYIIAIREHVYNGQVMETFVDPTYIGNIGRFLNHSCEPNLLMIPVRIDSMVPKLA
LFAAKDIVPEEELSYDYSGRYLNLTVSEDKERLDHGKLRKPCYCGAKSCTAFLPFDSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCK
RLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANERTVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADP
LTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFEVSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQE
EAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEIDEMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNEL

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

>40686_40686_2_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000354582_SETMAR_chr3_4354582_ENST00000425863_length(amino acids)=840AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCKRLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANER
TVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADPLTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFE
VSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQEEAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEID
EMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNELGYEVLPHPPYSPDLLPTNYHVFKHLNNFLQGKRFHNQQDAENAFQEFVE

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

>40686_40686_3_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000357086_SETMAR_chr3_4354582_ENST00000358065_length(amino acids)=979AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGRFVCEYAGEVLGFSEVQRRIHLQTKSDSNYIIAIREHVYNGQVMETFVDPTYIGNIGRFLNHSCEPNLLMIPVRIDSMVPKLA
LFAAKDIVPEEELSYDYSGRYLNLTVSEDKERLDHGKLRKPCYCGAKSCTAFLPFDSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCK
RLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANERTVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADP
LTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFEVSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQE
EAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEIDEMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNEL

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

>40686_40686_4_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000357086_SETMAR_chr3_4354582_ENST00000425863_length(amino acids)=840AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCKRLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANER
TVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADPLTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFE
VSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQEEAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEID
EMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNELGYEVLPHPPYSPDLLPTNYHVFKHLNNFLQGKRFHNQQDAENAFQEFVE

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

>40686_40686_5_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000423119_SETMAR_chr3_4354582_ENST00000358065_length(amino acids)=979AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGRFVCEYAGEVLGFSEVQRRIHLQTKSDSNYIIAIREHVYNGQVMETFVDPTYIGNIGRFLNHSCEPNLLMIPVRIDSMVPKLA
LFAAKDIVPEEELSYDYSGRYLNLTVSEDKERLDHGKLRKPCYCGAKSCTAFLPFDSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCK
RLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANERTVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADP
LTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFEVSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQE
EAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEIDEMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNEL

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

>40686_40686_6_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000423119_SETMAR_chr3_4354582_ENST00000425863_length(amino acids)=840AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCKRLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANER
TVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADPLTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFE
VSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQEEAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEID
EMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNELGYEVLPHPPYSPDLLPTNYHVFKHLNNFLQGKRFHNQQDAENAFQEFVE

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

>40686_40686_7_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000544951_SETMAR_chr3_4354582_ENST00000358065_length(amino acids)=979AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGRFVCEYAGEVLGFSEVQRRIHLQTKSDSNYIIAIREHVYNGQVMETFVDPTYIGNIGRFLNHSCEPNLLMIPVRIDSMVPKLA
LFAAKDIVPEEELSYDYSGRYLNLTVSEDKERLDHGKLRKPCYCGAKSCTAFLPFDSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCK
RLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANERTVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADP
LTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFEVSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQE
EAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEIDEMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNEL

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

>40686_40686_8_ITPR1-SETMAR_ITPR1_chr3_4695570_ENST00000544951_SETMAR_chr3_4354582_ENST00000425863_length(amino acids)=840AA_BP=347
MATECLTQVRIFKKDMSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKA
AKPGANSTTDAVLLNKLHHAADLEKKQNETENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQP
FYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVNSVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDE
HRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLAAEVDPDFEEECLEFQPSYTPDHVVGPGADI
DPTQITFPGCICVKTPCLPGTCSCLRHGENYDDNSCLRDIGSGGKYAEPVFECNVLCRCSDHCRNRVVQKGLQFHFQVFKTHKKGWGLRT
LEFIPKGSSLYCPVEKSNISCGNEKEPSMCGSAPSVFPSCKRLTLETMKMMLDKKQIRAIFLFEFKMGRKAAETTRNINNAFGPGTANER
TVQWWFKKFCKGDESLEDEERSGRPSEVDNDQLRAIIEADPLTTTREVAEELNVNHSTVVRHLKQIGKVKKLDKWVPHELTENQKNRRFE
VSSSLILRNHNEPFLDRIVTCDEKWILYDNRRRSAQWLDQEEAPKHFPKPILHPKKVMVTIWWSAAGLIHYSFLNPGETITSEKYAQEID
EMNQKLQRLQLALVNRKGPILLHDNARPHVAQPTLQKLNELGYEVLPHPPYSPDLLPTNYHVFKHLNNFLQGKRFHNQQDAENAFQEFVE

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

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:4695570/chr3:4354582)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITPR1

Q14643

.
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}.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.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259112_166332.02711.0DomainMIR 1
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259173_223332.02711.0DomainMIR 2
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259231_287332.02711.0DomainMIR 3
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259265_269332.02711.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503364_39552.0685.0DNA bindingH-T-H motif
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503428_44852.0685.0DNA bindingNote=H-T-H motif
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503139_26352.0685.0DomainSET
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503283_29952.0685.0DomainPost-SET
TgeneSETMARchr3:4695570chr3:4354582ENST000003580650373_13652.0685.0DomainPre-SET
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503149_15152.0685.0RegionNote=S-adenosyl-L-methionine binding
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503223_22452.0685.0RegionNote=S-adenosyl-L-methionine binding
TgeneSETMARchr3:4695570chr3:4354582ENST0000035806503346_68452.0685.0RegionNote=Mariner transposase Hsmar1

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161112_16602744.0DomainMIR 1
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161173_22302744.0DomainMIR 2
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161231_28702744.0DomainMIR 3
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161294_37302744.0DomainMIR 4
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161379_43502744.0DomainMIR 5
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259294_373332.02711.0DomainMIR 4
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259379_435332.02711.0DomainMIR 5
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159112_1660.02744.0DomainMIR 1
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159173_2230.02744.0DomainMIR 2
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159231_2870.02744.0DomainMIR 3
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159294_3730.02744.0DomainMIR 4
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159379_4350.02744.0DomainMIR 5
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158112_16602696.0DomainMIR 1
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158173_22302696.0DomainMIR 2
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158231_28702696.0DomainMIR 3
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158294_37302696.0DomainMIR 4
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158379_43502696.0DomainMIR 5
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161265_26902744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161508_51102744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+161567_56902744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259508_511332.02711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+1259567_569332.02711.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159265_2690.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159508_5110.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+159567_5690.02744.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158265_26902696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158508_51102696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+158567_56902696.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1611_228202744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612304_231402744.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612336_236102744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612383_240502744.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612427_244802744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612470_257702744.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612599_275802744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12591_2282332.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592304_2314332.02711.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592336_2361332.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592383_2405332.02711.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592427_2448332.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592470_2577332.02711.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592599_2758332.02711.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1591_22820.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592304_23140.02744.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592336_23610.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592383_24050.02744.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592427_24480.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592470_25770.02744.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592599_27580.02744.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1581_228202696.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582304_231402696.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582336_236102696.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582383_240502696.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582427_244802696.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582470_257702696.0Topological domainLumenal
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582599_275802696.0Topological domainCytoplasmic
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612283_230302744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612315_233502744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612362_238202744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612406_242602744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612449_246902744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612578_259802744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592283_2303332.02711.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592315_2335332.02711.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592362_2382332.02711.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592406_2426332.02711.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592449_2469332.02711.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592578_2598332.02711.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592283_23030.02744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592315_23350.02744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592362_23820.02744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592406_24260.02744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592449_24690.02744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592578_25980.02744.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582283_230302696.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582315_233502696.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582362_238202696.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582406_242602696.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582449_246902696.0TransmembraneHelical
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582578_259802696.0TransmembraneHelical
TgeneSETMARchr3:4695570chr3:4354582ENST00000358065031_34552.0685.0RegionNote=Histone-lysine N-methyltransferase


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ITPR1
SETMAR


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneITPR1chr3:4695570chr3:4354582ENST00000302640+1612472_253702744.0ERP44
HgeneITPR1chr3:4695570chr3:4354582ENST00000357086+12592472_2537332.02711.0ERP44
HgeneITPR1chr3:4695570chr3:4354582ENST00000443694+1592472_25370.02744.0ERP44
HgeneITPR1chr3:4695570chr3:4354582ENST00000456211+1582472_253702696.0ERP44


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Related Drugs to ITPR1-SETMAR


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

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Related Diseases to ITPR1-SETMAR


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource