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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:FUNDC2-ITPR2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FUNDC2-ITPR2
FusionPDB ID: 31775
FusionGDB2.0 ID: 31775
HgeneTgene
Gene symbol

FUNDC2

ITPR2

Gene ID

65991

3709

Gene nameFUN14 domain containing 2inositol 1,4,5-trisphosphate receptor type 2
SynonymsDC44|HCBP6|HCC3|PD03104ANHD|CFAP48|INSP3R2|IP3R2
Cytomap

Xq28

12p11.23

Type of geneprotein-codingprotein-coding
DescriptionFUN14 domain-containing protein 2HCC-3cervical cancer oncogene 3cervical cancer proto-oncogene 3 proteinhepatitis C virus core-binding protein 6inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor
Modification date2020031320200313
UniProtAcc

Q9BWH2

Q14571

Ensembl transtripts involved in fusion geneENST idsENST00000484175, ENST00000369498, 
ENST00000381340, ENST00000242737, 
ENST00000545902, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score1 X 1 X 1=127 X 21 X 12=6804
# samples 127
** MAII scorelog2(1/1*10)=3.32192809488736log2(27/6804*10)=-4.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FUNDC2 [Title/Abstract] AND ITPR2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FUNDC2(154261828)-ITPR2(26943160), # samples:1
Anticipated loss of major functional domain due to fusion event.FUNDC2-ITPR2 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.
FUNDC2-ITPR2 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
TgeneITPR2

GO:0001666

response to hypoxia

19120137


check buttonFusion gene breakpoints across FUNDC2 (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 ITPR2 (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
ChimerDB4SARCTCGA-DX-A1KZFUNDC2chrX

154261828

+ITPR2chr12

26943160

-


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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)
ENST00000369498FUNDC2chrX154261828+ENST00000381340ITPR2chr1226943160-1054053825485512765

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
ENST00000369498ENST00000381340FUNDC2chrX154261828+ITPR2chr1226943160-0.0004569620.9995431

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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

>31775_31775_1_FUNDC2-ITPR2_FUNDC2_chrX_154261828_ENST00000369498_ITPR2_chr12_26943160_ENST00000381340_length(amino acids)=2765AA_BP=95
METSAPRAGSQVVATTARHSAAYRADPLRVSSRDKLTEMAASSQGNFEGNFESLDLAEFAKKQPWWRKLFGQESGPSAEKYSVATQLFIG
GVTGWLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLKKLQHAAELEQKQNESENKKLLGEIVK
YSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGDKVVLMPVNAGQPLHASNIELLDNPGC
KEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQSATSATSSKALWEIEVVHHDPCRGGA
GQWNSLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHGNDIASLFELDATTLQRADCLVPRNSY
VRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANKVLATTVKKLENGTITQNERRFVTKLL
EDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLEDLGDQRYAPYKYMLRLCYRVLRHSQQD
YRKNQEYIAKNFCVMQSQIGYDILAEDTITALLHNNRKLLEKHITAKEIETFVSLLRRNREPRFLDYLSDLCVSNTTAIPVTQELICKFM
LSPGNADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGTKADLEVLTYYRYQLNLFARMCLDRQY
LAINQISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTKITIHEYDSITDSSRNDMKRKFALTME
FVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPMSSYFERLSKFQDGGNNVMRTIHGVGE
MMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIEILQFILSVRLDYRISYMLSIYKKEFGEDNDNAETSASGSPD
TLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLLFKHFSQRAEVLQAFKQVQLLVSNQDV
DNYKQIKADLDQLRLTVEKSELWVEKSSNYENGEIGESQVKGGEEPIEESNILSPVQDGTKKPQIDSNKSNNYRIVKEILIRLSKLCVQN
KKCRNQHQRLLKNMGAHSVVLDLLQIPYEKNDEKMNEVMNLAHTFLQNFCRGNPQNQVLLHKHLNLFLTPGLLEAETMRHIFMNNYHLCN
EISERVVQHFVHCIETHGRHVEYLRFLQTIVKADGKYVKKCQDMVMTELINGGEDVLIFYNDRASFPILLHMMCSERDRGDESGPLAYHI
TLVELLAACTEGKNVYTEIKCNSLLPLDDIVRVVTHDDCIPEVKIAYVNFVNHCYVDTEVEMKEIYTSNHIWKLFENFLVDMARVCNTTT
DRKHADIFLEKCVTESIMNIVSGFFNSPFSDNSTSLQTHQPVFIQLLQSAFRIYNCTWPNPAQKASVESCIRTLAEVAKNRGIAIPVDLD
SQVNTLFMKSHSNMVQRAAMGWRLSARSGPRFKEALGGPAWDYRNIIEKLQDVVASLEHQFSPMMQAEFSVLVDVLYSPELLFPEGSDAR
IRCGAFMSKLINHTKKLMEKEEKLCIKILQTLREMLEKKDSFVEEGNTLRKILLNRYFKGDYSIGVNGHLSGAYSKTAQVGGSFSGQDSD
KMGISMSDIQCLLDKEGASELVIDVIVNTKNDRIFSEGIFLGIALLEGGNTQTQYSFYQQLHEQKKSEKFFKVLYDRMKAAQKEIRSTVT
VNTIDLGNKKRDDDNELMTSGPRMRVRDSTLHLKEGMKGQLTEASSATSKAYCVYRREMDPEIDIMCTGPEAGNTEEKSAEEVTMSPAIA
IMQPILRFLQLLCENHNRELQNFLRNQNNKTNYNLVCETLQFLDCICGSTTGGLGLLGLYINEKNVALVNQNLESLTEYCQGPCHENQTC
IATHESNGIDIIIALILNDINPLGKYRMDLVLQLKNNASKLLLAIMESRHDSENAERILFNMRPRELVDVMKNAYNQGLECDHGDDEGGD
DGVSPKDVGHNIYILAHQLARHNKLLQQMLKPGSDPDEGDEALKYYANHTAQIEIVRHDRTMEQIVFPVPNICEYLTRESKCRVFNTTER
DEQGSKVNDFFQQTEDLYNEMKWQKKIRNNPALFWFSRHISLWGSISFNLAVFINLAVALFYPFGDDGDEGTLSPLFSVLLWIAVAICTS
MLFFFSKPVGIRPFLVSIMLRSIYTIGLGPTLILLGAANLCNKIVFLVSFVGNRGTFTRGYRAVILDMAFLYHVAYVLVCMLGLFVHEFF
YSFLLFDLVYREETLLNVIKSVTRNGRSIILTAVLALILVYLFSIIGFLFLKDDFTMEVDRLKNRTPVTGSHQVPTMTLTTMMEACAKEN
CSPTIPASNTADEEYEDGIERTCDTLLMCIVTVLNQGLRNGGGVGDVLRRPSKDEPLFAARVVYDLLFYFIVIIIVLNLIFGVIIDTFAD
LRSEKQKKEEILKTTCFICGLERDKFDNKTVSFEEHIKSEHNMWHYLYFIVLVKVKDPTEYTGPESYVAQMIVEKNLDWFPRMRAMSLVS

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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/chrX:154261828/chr12:26943160)
- 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
FUNDC2

Q9BWH2

ITPR2

Q14571

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}.

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
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706112_16630.666666666666668182.0DomainMIR 1
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706173_22330.666666666666668182.0DomainMIR 2
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706231_28730.666666666666668182.0DomainMIR 3
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706294_37230.666666666666668182.0DomainMIR 4
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706378_43430.666666666666668182.0DomainMIR 5
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057112_16630.6666666666666682702.0DomainMIR 1
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057173_22330.6666666666666682702.0DomainMIR 2
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057231_28730.6666666666666682702.0DomainMIR 3
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057294_37230.6666666666666682702.0DomainMIR 4
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057378_43430.6666666666666682702.0DomainMIR 5
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706265_26930.666666666666668182.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706507_51030.666666666666668182.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chrX:154261828chr12:26943160ENST0000024273706567_56930.666666666666668182.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057265_26930.6666666666666682702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057507_51030.6666666666666682702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chrX:154261828chr12:26943160ENST00000381340057567_56930.6666666666666682702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062249_226030.666666666666668182.0Topological domainExtracellular
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062282_230730.666666666666668182.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062329_235130.666666666666668182.0Topological domainExtracellular
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062373_239430.666666666666668182.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062416_252130.666666666666668182.0Topological domainExtracellular
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062543_270130.666666666666668182.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572249_226030.6666666666666682702.0Topological domainExtracellular
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572282_230730.6666666666666682702.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572329_235130.6666666666666682702.0Topological domainExtracellular
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572373_239430.6666666666666682702.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572416_252130.6666666666666682702.0Topological domainExtracellular
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572543_270130.6666666666666682702.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062228_224830.666666666666668182.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062261_228130.666666666666668182.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062308_232830.666666666666668182.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062352_237230.666666666666668182.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062395_241530.666666666666668182.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737062522_254230.666666666666668182.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572228_224830.6666666666666682702.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572261_228130.6666666666666682702.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572308_232830.6666666666666682702.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572352_237230.6666666666666682702.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572395_241530.6666666666666682702.0TransmembraneHelical
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400572522_254230.6666666666666682702.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneITPR2chrX:154261828chr12:26943160ENST00000242737061_222730.666666666666668182.0Topological domainCytoplasmic
TgeneITPR2chrX:154261828chr12:26943160ENST000003813400571_222730.6666666666666682702.0Topological domainCytoplasmic


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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
FUNDC2
ITPR2all structure


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 FUNDC2-ITPR2


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 FUNDC2-ITPR2


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
TgeneITPR2C0003132Anoxic Encephalopathy1CTD_human
TgeneITPR2C0018800Cardiomegaly1CTD_human
TgeneITPR2C0995195Anoxia of brain1CTD_human
TgeneITPR2C1140716Hypoxic Brain Damage1CTD_human
TgeneITPR2C1383860Cardiac Hypertrophy1CTD_human
TgeneITPR2C1527348Brain Hypoxia1CTD_human
TgeneITPR2C1862871ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS1CTD_human;ORPHANET;UNIPROT