UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use
Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:ITPR2-KIAA0922

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITPR2-KIAA0922
FusionPDB ID: 40701
FusionGDB2.0 ID: 40701
HgeneTgene
Gene symbol

ITPR2

KIAA0922

Gene ID

3709

23240

Gene nameinositol 1,4,5-trisphosphate receptor type 2transmembrane 131 like
SynonymsANHD|CFAP48|INSP3R2|IP3R2KIAA0922
Cytomap

12p11.23

4q31.3

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptortransmembrane protein 131-like
Modification date2020031320200313
UniProtAcc

Q14571

.
Ensembl transtripts involved in fusion geneENST idsENST00000381340, ENST00000242737, 
ENST00000545902, 		ENST00000409663, 
ENST00000409959, ENST00000440693, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score21 X 18 X 10=37803 X 4 X 3=36
# samples 234
** MAII scorelog2(23/3780*10)=-4.03868046816406
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITPR2 [Title/Abstract] AND KIAA0922 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITPR2(26774055)-KIAA0922(154501977), # samples:2
Anticipated loss of major functional domain due to fusion event.ITPR2-KIAA0922 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-KIAA0922 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-KIAA0922 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-KIAA0922 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

TgeneKIAA0922

GO:0090090

negative regulation of canonical Wnt signaling pathway

23690469


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 KIAA0922 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4ESCATCGA-L5-A4ONITPR2chr12

26774055

-KIAA0922chr4

154501977

+


Top

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)
ENST00000381340ITPR2chr1226774055-ENST00000440693KIAA0922chr4154501977+7932387941777992460
ENST00000381340ITPR2chr1226774055-ENST00000409663KIAA0922chr4154501977+8184387941780482543
ENST00000381340ITPR2chr1226774055-ENST00000409959KIAA0922chr4154501977+8187387941780512544

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
ENST00000381340ENST00000440693ITPR2chr1226774055-KIAA0922chr4154501977+0.0014011930.99859875
ENST00000381340ENST00000409663ITPR2chr1226774055-KIAA0922chr4154501977+0.0011682540.9988318
ENST00000381340ENST00000409959ITPR2chr1226774055-KIAA0922chr4154501977+0.0011897660.9988103

Top

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

>40701_40701_1_ITPR2-KIAA0922_ITPR2_chr12_26774055_ENST00000381340_KIAA0922_chr4_154501977_ENST00000409663_length(amino acids)=2543AA_BP=1154
MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLK
KLQHAAELEQKQNESENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGD
KVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQ
SATSATSSKALWEIEVVHHDPCRGGAGQWNSLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHG
NDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANK
VLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLED
LGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLHNNRKLLEKHITAKEIETFVSLLRRNREPRF
LDYLSDLCVSNTTAIPVTQELICKFMLSPGNADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGT
KADLEVLTYYRYQLNLFARMCLDRQYLAINQISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTK
ITIHEYDSITDSSRNDMKRKFALTMEFVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIEILQFILSVRLDYRIS
YMLSIYKKEFGEDNDNAETSASGSPDTLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLL
FKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEKSELWVEKSSNYENGEIGESQVKGGEEPIEAETTNTSLLQVQLECS
LHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRD
ALSLQFEPVLLPTSTTNFTKIASFTCKATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNHF
DRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHCG
MHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFSA
TALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEMK
RVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIGP
LPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPSW
EESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNTP
QSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKNL
TLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISRK
NNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGVA
PVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSVR
ASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYSP
GDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNSQ
STWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLDI

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

>40701_40701_2_ITPR2-KIAA0922_ITPR2_chr12_26774055_ENST00000381340_KIAA0922_chr4_154501977_ENST00000409959_length(amino acids)=2544AA_BP=1154
MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLK
KLQHAAELEQKQNESENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGD
KVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQ
SATSATSSKALWEIEVVHHDPCRGGAGQWNSLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHG
NDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANK
VLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLED
LGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLHNNRKLLEKHITAKEIETFVSLLRRNREPRF
LDYLSDLCVSNTTAIPVTQELICKFMLSPGNADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGT
KADLEVLTYYRYQLNLFARMCLDRQYLAINQISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTK
ITIHEYDSITDSSRNDMKRKFALTMEFVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIEILQFILSVRLDYRIS
YMLSIYKKEFGEDNDNAETSASGSPDTLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLL
FKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEKSELWVEKSSNYENGEIGESQVKGGEEPIEAETTNTSLLQVQLECS
LHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRD
ALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNH
FDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHC
GMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKRNVLGTTRFAHLKKSKESESFVFFLPRLIAEPGLMLNFS
ATALRSRMIKYFVVQNPSSWPVSLQLLPLSLYPKPEALVHLLHRWFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLHLQPLEM
KRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNFKVENIG
PLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCADVVPGPS
WEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKNCLPVNT
PQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGINVNLQKN
LTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPDLPEISR
KNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRKNKKRGV
APVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCGSSSGSV
RASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEEDKGLYS
PGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTDFIDHNS
QSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFRAYMNLD

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

>40701_40701_3_ITPR2-KIAA0922_ITPR2_chr12_26774055_ENST00000381340_KIAA0922_chr4_154501977_ENST00000440693_length(amino acids)=2460AA_BP=1154
MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLK
KLQHAAELEQKQNESENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGD
KVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQ
SATSATSSKALWEIEVVHHDPCRGGAGQWNSLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHG
NDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANK
VLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLED
LGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLHNNRKLLEKHITAKEIETFVSLLRRNREPRF
LDYLSDLCVSNTTAIPVTQELICKFMLSPGNADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGT
KADLEVLTYYRYQLNLFARMCLDRQYLAINQISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTK
ITIHEYDSITDSSRNDMKRKFALTMEFVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIEILQFILSVRLDYRIS
YMLSIYKKEFGEDNDNAETSASGSPDTLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLL
FKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEKSELWVEKSSNYENGEIGESQVKGGEEPIEAETTNTSLLQVQLECS
LHNKVCQQLKGCYLESDDVLRLQMSIMVTMENFSKEFEENTQHLLDHLSIVYVATDESETSDDSAVNMYILHSGNSLIWIQDIRHFSQRD
ALSLQFEPVLLPTSTTNFTKIASFTCKAATSCDSGIIEDVKKTTHTPTLKACLFSSVAQGYFRMDSSATQFHIETHENTSGLWSIWYRNH
FDRSVVLNDVFLSKETKHMLKILNFTGPLFLPPGCWNIFSLKLAVKDIAINLFTNVFLTTNIGAIFAIPLQIYSAPTKEGSLGFEVIAHC
GMHYFMGKSKAGNPNWNGSLSLDQSTWNVDSELANKLYERWKKYKNGDVCKFGTDMQMINFTTGEFQLTEACPYLGTHSEESRFGILHLH
LQPLEMKRVGVVFTPADYGKVTSLILIRNNLTVIDMIGVEGFGARELLKVGGRLPGAGGSLRFKVPESTLMDCRRQLKDSKQILSITKNF
KVENIGPLPITVSSLKINGYNCQGYGFEVLDCHQFSLDPNTSRDISIVFTPDFTSSWVIRDLSLVTAADLEFRFTLNVTLPHHLLPLCAD
VVPGPSWEESFWRLTVFFVSLSLLGVILIAFQQAQYILMEFMKTRQRQNASSSSQQNNGPMDVISPHSYKSNCKNFLDTYGPSDKGRGKN
CLPVNTPQSRIQNAAKRSPATYGHSQKKHKCSVYYSKHKTSTAAASSTSTTTEEKQTSPLGSSLPAAKEDICTDAMRENWISLRYASGIN
VNLQKNLTLPKNLLNKEENTLKNTIVFSNPSSECSMKEGIQTCMFPKETDIKTSENTAEFKERELCPLKTSKKLPENHLPRNSPQYHQPD
LPEISRKNNGNNQQVPVKNEVDHCENLKKVDTKPSSEKKIHKTSREDMFSEKQDIPFVEQEDPYRKKKLQEKREGNLQNLNWSKSRTCRK
NKKRGVAPVSRPPEQSDLKLVCSDFERSELSSDINVRSWCIQESTREVCKADAEIASSLPAAQREAEGYYQKPEKKCVDKFCSDSSSDCG
SSSGSVRASRGSWGSWSSTSSSDGDKKPMVDAQHFLPAGDSVSQNDFPSEAPISLNLSHNICNPMTVNSLPQYAEPSCPSLPAGPTGVEE
DKGLYSPGDLWPTPPVCVTSSLNCTLENGVPCVIQESAPVHNSFIDWSATCEGQFSSAYCPLELNDYNAFPEENMNYANGFPCPADVQTD
FIDHNSQSTWNTPPNMPAAWGHASFISSPPYLTSTRSLSPMSGLFGSIWAPQSDVYENCCPINPTTEHSTHMENQAVVCKEYYPGFNPFR

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

Top

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/chr12:26774055/chr4:154501977)
- 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

.
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: 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
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657112_1661154.02702.0DomainMIR 1
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657173_2231154.02702.0DomainMIR 2
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657231_2871154.02702.0DomainMIR 3
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657294_3721154.02702.0DomainMIR 4
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657378_4341154.02702.0DomainMIR 5
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657265_2691154.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657507_5101154.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-2657567_5691154.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneKIAA0922chr12:26774055chr4:154501977ENST000004096636351302_1331220.01610.0Compositional biasNote=Ser-rich
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409663635910_913220.01610.0Compositional biasNote=Poly-Ser
TgeneKIAA0922chr12:26774055chr4:154501977ENST000004099596351302_1331220.01611.0Compositional biasNote=Ser-rich
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409959635910_913220.01611.0Compositional biasNote=Poly-Ser
TgeneKIAA0922chr12:26774055chr4:154501977ENST000004406936331302_1331220.01527.0Compositional biasNote=Ser-rich
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000440693633910_913220.01527.0Compositional biasNote=Poly-Ser
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409663635696_916220.01610.0RegionRequired for Wnt-signaling inhibition and LRP6 degradation
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409959635696_916220.01611.0RegionRequired for Wnt-signaling inhibition and LRP6 degradation
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000440693633696_916220.01527.0RegionRequired for Wnt-signaling inhibition and LRP6 degradation
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409663635891_1609220.01610.0Topological domainCytoplasmic
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409959635891_1609220.01611.0Topological domainCytoplasmic
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000440693633891_1609220.01527.0Topological domainCytoplasmic
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409663635870_890220.01610.0TransmembraneHelical
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000409959635870_890220.01611.0TransmembraneHelical
TgeneKIAA0922chr12:26774055chr4:154501977ENST00000440693633870_890220.01527.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16112_1660.0182.0DomainMIR 1
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16173_2230.0182.0DomainMIR 2
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16231_2870.0182.0DomainMIR 3
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16294_3720.0182.0DomainMIR 4
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16378_4340.0182.0DomainMIR 5
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16265_2690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16507_5100.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-16567_5690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-161_22270.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162249_22600.0182.0Topological domainExtracellular
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162282_23070.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162329_23510.0182.0Topological domainExtracellular
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162373_23940.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162416_25210.0182.0Topological domainExtracellular
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162543_27010.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26571_22271154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572249_22601154.02702.0Topological domainExtracellular
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572282_23071154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572329_23511154.02702.0Topological domainExtracellular
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572373_23941154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572416_25211154.02702.0Topological domainExtracellular
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572543_27011154.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162228_22480.0182.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162261_22810.0182.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162308_23280.0182.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162352_23720.0182.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162395_24150.0182.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000242737-162522_25420.0182.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572228_22481154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572261_22811154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572308_23281154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572352_23721154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572395_24151154.02702.0TransmembraneHelical
HgeneITPR2chr12:26774055chr4:154501977ENST00000381340-26572522_25421154.02702.0TransmembraneHelical
TgeneKIAA0922chr12:26774055chr4:154501977ENST0000040966363541_869220.01610.0Topological domainExtracellular
TgeneKIAA0922chr12:26774055chr4:154501977ENST0000040995963541_869220.01611.0Topological domainExtracellular
TgeneKIAA0922chr12:26774055chr4:154501977ENST0000044069363341_869220.01527.0Topological domainExtracellular


Top

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
KIAA0922


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


Top

Related Drugs to ITPR2-KIAA0922


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

Top

Related Diseases to ITPR2-KIAA0922


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