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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:ITPR2-DDX11

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITPR2-DDX11
FusionPDB ID: 40696
FusionGDB2.0 ID: 40696
HgeneTgene
Gene symbol

ITPR2

DDX11

Gene ID

3709

1663

Gene nameinositol 1,4,5-trisphosphate receptor type 2DEAD/H-box helicase 11
SynonymsANHD|CFAP48|INSP3R2|IP3R2CHL1|CHLR1|KRG2|WABS
Cytomap

12p11.23

12p11.21

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptorATP-dependent DNA helicase DDX11CHL1-like helicase homologCHL1-related helicase gene-1CHL1-related protein 1DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)DEAD/H
Modification date2020031320200313
UniProtAcc

Q14571

Q96FC9

Ensembl transtripts involved in fusion geneENST idsENST00000381340, ENST00000242737, 
ENST00000545902, 		ENST00000228264, 
ENST00000251758, ENST00000350437, 
ENST00000407793, ENST00000545668, 
ENST00000539673, ENST00000542838, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score21 X 18 X 10=37801 X 1 X 1=1
# samples 231
** MAII scorelog2(23/3780*10)=-4.03868046816406
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITPR2 [Title/Abstract] AND DDX11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITPR2(26774056)-DDX11(31256251), # samples:1
Anticipated loss of major functional domain due to fusion event.ITPR2-DDX11 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.
ITPR2-DDX11 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.
ITPR2-DDX11 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.
ITPR2-DDX11 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneITPR2

GO:0001666

response to hypoxia

19120137

TgeneDDX11

GO:0007062

sister chromatid cohesion

17105772

TgeneDDX11

GO:0032079

positive regulation of endodeoxyribonuclease activity

18499658

TgeneDDX11

GO:0032508

DNA duplex unwinding

10648783|18499658|26503245

TgeneDDX11

GO:0035563

positive regulation of chromatin binding

26089203

TgeneDDX11

GO:0044806

G-quadruplex DNA unwinding

26503245


check buttonFusion gene breakpoints across ITPR2 (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 DDX11 (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
ChimerDB4LIHCTCGA-DD-A4NH-01AITPR2chr12

26774056

-DDX11chr12

31256251

+


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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)
ENST00000381340ITPR2chr1226774056-ENST00000542838DDX11chr1231256251+4250387941741421241

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
ENST00000381340ENST00000542838ITPR2chr1226774056-DDX11chr1231256251+0.0021120680.9978879

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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

>40696_40696_1_ITPR2-DDX11_ITPR2_chr12_26774056_ENST00000381340_DDX11_chr12_31256251_ENST00000542838_length(amino acids)=1241AA_BP=1154
MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLK
KLQHAAELEQKQNESENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGD
KVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQ
SATSATSSKALWEIEVVHHDPCRGGAGQWNSLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHG
NDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANK
VLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLED
LGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLHNNRKLLEKHITAKEIETFVSLLRRNREPRF
LDYLSDLCVSNTTAIPVTQELICKFMLSPGNADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGT
KADLEVLTYYRYQLNLFARMCLDRQYLAINQISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTK
ITIHEYDSITDSSRNDMKRKFALTMEFVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIEILQFILSVRLDYRIS
YMLSIYKKEFGEDNDNAETSASGSPDTLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLL
FKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEKSELWVEKSSNYENGEIGESQVKGGEEPIEPRAPGQAPPGKALVEN

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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/chr12:26774056/chr12:31256251)
- 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
ITPR2

Q14571

DDX11

Q96FC9

FUNCTION: Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). {ECO:0000250|UniProtKB:Q9Z329}.FUNCTION: DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Shows also ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Cooperates also with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Plays also a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:9013641, PubMed:18499658, PubMed:22102414). {ECO:0000250|UniProtKB:Q6AXC6, ECO:0000269|PubMed:10648783, ECO:0000269|PubMed:17105772, ECO:0000269|PubMed:18499658, ECO:0000269|PubMed:20124417, ECO:0000269|PubMed:21854770, ECO:0000269|PubMed:22102414, ECO:0000269|PubMed:23116066, ECO:0000269|PubMed:23797032, ECO:0000269|PubMed:26089203, ECO:0000269|PubMed:26503245, ECO:0000269|PubMed:27477908}.; FUNCTION: (Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated. {ECO:0000269|PubMed:17189189}.

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
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657112_1661154.02702.0DomainMIR 1
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657173_2231154.02702.0DomainMIR 2
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657231_2871154.02702.0DomainMIR 3
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657294_3721154.02702.0DomainMIR 4
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657378_4341154.02702.0DomainMIR 5
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657265_2691154.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657507_5101154.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-2657567_5691154.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16112_1660.0182.0DomainMIR 1
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16173_2230.0182.0DomainMIR 2
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16231_2870.0182.0DomainMIR 3
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16294_3720.0182.0DomainMIR 4
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16378_4340.0182.0DomainMIR 5
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16265_2690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16507_5100.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-16567_5690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-161_22270.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162249_22600.0182.0Topological domainExtracellular
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162282_23070.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162329_23510.0182.0Topological domainExtracellular
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162373_23940.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162416_25210.0182.0Topological domainExtracellular
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162543_27010.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26571_22271154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572249_22601154.02702.0Topological domainExtracellular
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572282_23071154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572329_23511154.02702.0Topological domainExtracellular
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572373_23941154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572416_25211154.02702.0Topological domainExtracellular
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572543_27011154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162228_22480.0182.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162261_22810.0182.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162308_23280.0182.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162352_23720.0182.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162395_24150.0182.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000242737-162522_25420.0182.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572228_22481154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572261_22811154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572308_23281154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572352_23721154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572395_24151154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774056chr12:31256251ENST00000381340-26572522_25421154.02702.0TransmembraneHelical
TgeneDDX11chr12:26774056chr12:31256251ENST000002282642327163_224793.0881.0Compositional biasNote=Glu-rich
TgeneDDX11chr12:26774056chr12:31256251ENST000002517582428163_224881.6666666666666456.0Compositional biasNote=Glu-rich
TgeneDDX11chr12:26774056chr12:31256251ENST000003504372226163_224769.0857.0Compositional biasNote=Glu-rich
TgeneDDX11chr12:26774056chr12:31256251ENST000004077932327163_224819.0971.0Compositional biasNote=Glu-rich
TgeneDDX11chr12:26774056chr12:31256251ENST000005428382327163_224819.0907.0Compositional biasNote=Glu-rich
TgeneDDX11chr12:26774056chr12:31256251ENST000005456682327163_224819.0971.0Compositional biasNote=Glu-rich
TgeneDDX11chr12:26774056chr12:31256251ENST0000022826423279_445793.0881.0DomainHelicase ATP-binding
TgeneDDX11chr12:26774056chr12:31256251ENST0000025175824289_445881.6666666666666456.0DomainHelicase ATP-binding
TgeneDDX11chr12:26774056chr12:31256251ENST0000035043722269_445769.0857.0DomainHelicase ATP-binding
TgeneDDX11chr12:26774056chr12:31256251ENST0000040779323279_445819.0971.0DomainHelicase ATP-binding
TgeneDDX11chr12:26774056chr12:31256251ENST0000054283823279_445819.0907.0DomainHelicase ATP-binding
TgeneDDX11chr12:26774056chr12:31256251ENST0000054566823279_445819.0971.0DomainHelicase ATP-binding
TgeneDDX11chr12:26774056chr12:31256251ENST000002282642327393_396793.0881.0MotifNote=DEAH box
TgeneDDX11chr12:26774056chr12:31256251ENST000002517582428393_396881.6666666666666456.0MotifNote=DEAH box
TgeneDDX11chr12:26774056chr12:31256251ENST000003504372226393_396769.0857.0MotifNote=DEAH box
TgeneDDX11chr12:26774056chr12:31256251ENST000004077932327393_396819.0971.0MotifNote=DEAH box
TgeneDDX11chr12:26774056chr12:31256251ENST000005428382327393_396819.0907.0MotifNote=DEAH box
TgeneDDX11chr12:26774056chr12:31256251ENST000005456682327393_396819.0971.0MotifNote=DEAH box
TgeneDDX11chr12:26774056chr12:31256251ENST00000228264232744_51793.0881.0Nucleotide bindingATP
TgeneDDX11chr12:26774056chr12:31256251ENST00000251758242844_51881.6666666666666456.0Nucleotide bindingATP
TgeneDDX11chr12:26774056chr12:31256251ENST00000350437222644_51769.0857.0Nucleotide bindingATP
TgeneDDX11chr12:26774056chr12:31256251ENST00000407793232744_51819.0971.0Nucleotide bindingATP
TgeneDDX11chr12:26774056chr12:31256251ENST00000542838232744_51819.0907.0Nucleotide bindingATP
TgeneDDX11chr12:26774056chr12:31256251ENST00000545668232744_51819.0971.0Nucleotide bindingATP


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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
ITPR2all structure
DDX11


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


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Related Drugs to ITPR2-DDX11


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 ITPR2-DDX11


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
HgeneITPR2C0003132Anoxic Encephalopathy1CTD_human
HgeneITPR2C0018800Cardiomegaly1CTD_human
HgeneITPR2C0995195Anoxia of brain1CTD_human
HgeneITPR2C1140716Hypoxic Brain Damage1CTD_human
HgeneITPR2C1383860Cardiac Hypertrophy1CTD_human
HgeneITPR2C1527348Brain Hypoxia1CTD_human
HgeneITPR2C1862871ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS1CTD_human;ORPHANET;UNIPROT