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-KRAS

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITPR2-KRAS
FusionPDB ID: 40702
FusionGDB2.0 ID: 40702
HgeneTgene
Gene symbol

ITPR2

KRAS

Gene ID

3709

3845

Gene nameinositol 1,4,5-trisphosphate receptor type 2KRAS proto-oncogene, GTPase
SynonymsANHD|CFAP48|INSP3R2|IP3R2'C-K-RAS|C-K-RAS|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|K-Ras|K-Ras 2|KI-RAS|KRAS1|KRAS2|NS|NS3|OES|RALD|RASK2|c-Ki-ras|c-Ki-ras2
Cytomap

12p11.23

12p12.1

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptorGTPase KRasK-ras p21 proteinKirsten rat sarcoma viral oncogene homologKirsten rat sarcoma viral proto-oncogenePR310 c-K-ras oncogenec-Kirsten-ras proteincellular c-Ki-ras2 proto-oncogenecellular transforming proto-oncogeneoncogene KRAS2transformi
Modification date2020031320200329
UniProtAcc

Q14571

P01116

Ensembl transtripts involved in fusion geneENST idsENST00000381340, ENST00000242737, 
ENST00000545902, 		ENST00000256078, 
ENST00000556131, ENST00000557334, 
ENST00000311936, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score21 X 18 X 10=37806 X 6 X 4=144
# samples 237
** MAII scorelog2(23/3780*10)=-4.03868046816406
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITPR2(26703180)-KRAS(25380346), # samples:1
Anticipated loss of major functional domain due to fusion event.ITPR2-KRAS 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-KRAS 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-KRAS 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-KRAS 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


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 KRAS (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
ChimerDB4STADTCGA-BR-A4PD-01AITPR2chr12

26703180

-KRASchr12

25380346

-


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)
ENST00000381340ITPR2chr1226703180-ENST00000311936KRASchr1225380346-10952549041759451842

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
ENST00000381340ENST00000311936ITPR2chr1226703180-KRASchr1225380346-0.0001761590.99982387

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

>40702_40702_1_ITPR2-KRAS_ITPR2_chr12_26703180_ENST00000381340_KRAS_chr12_25380346_ENST00000311936_length(amino acids)=1842AA_BP=0
MTEKMSSFLYIGDIVSLYAEGSVNGFISTLGLVDDRCVVHPEAGDLANPPKKFRDCLFKVCPMNRYSAQKQYWKAKQAKQGNHTEAALLK
KLQHAAELEQKQNESENKKLLGEIVKYSNVIQLLHIKSNKYLTVNKRLPALLEKNAMRVSLDAAGNEGSWFYIHPFWKLRSEGDNIVVGD
KVVLMPVNAGQPLHASNIELLDNPGCKEVNAVNCNTSWKITLFMKYSSYREDVLKGGDVVRLFHAEQEKFLTCDEYEKKQHIFLRTTLRQ
SATSATSSKALWEIEVVHHDPCRGGAGQWNSLFRFKHLATGNYLAAELNPDYRDAQNEGKNVRDGVPPTSKKKRQAGEKIMYTLVSVPHG
NDIASLFELDATTLQRADCLVPRNSYVRLRHLCTNTWVTSTSIPIDTDEERPVMLKIGTCQTKEDKEAFAIVSVPLSEVRDLDFANDANK
VLATTVKKLENGTITQNERRFVTKLLEDLIFFVADVPNNGQEVLDVVITKPNRERQKLMREQNILAQVFGILKAPFKEKAGEGSMLRLED
LGDQRYAPYKYMLRLCYRVLRHSQQDYRKNQEYIAKNFCVMQSQIGYDILAEDTITALLHNNRKLLEKHITAKEIETFVSLLRRNREPRF
LDYLSDLCVSNTTAIPVTQELICKFMLSPGNADILIQTKVVSMQADNPMESSILSDDIDDEEVWLYWIDSNKEPHGKAIRHLAQEAKEGT
KADLEVLTYYRYQLNLFARMCLDRQYLAINQISTQLSVDLILRCVSDESLPFDLRASFCRLMLHMHVDRDPQESVVPVRYARLWTEIPTK
ITIHEYDSITDSSRNDMKRKFALTMEFVEEYLKEVVNQPFPFGDKEKNKLTFEVVHLARNLIYFGFYSFSELLRLTRTLLAILDIVQAPM
SSYFERLSKFQDGGNNVMRTIHGVGEMMTQMVLSRGSIFPMSVPDVPPSIHPSKQGSPTEHEDVTVMDTKLKIIEILQFILSVRLDYRIS
YMLSIYKKEFGEDNDNAETSASGSPDTLLPSAIVPDIDEIAAQAETMFAGRKEKNPVQLDDEGGRTFLRVLIHLIMHDYPPLLSGALQLL
FKHFSQRAEVLQAFKQVQLLVSNQDVDNYKQIKADLDQLRLTVEKSELWVEKSSNYENGEIGESQVKGGEEPIEESNILSPVQDGTKKPQ
IDSNKSNNYRIVKEILIRLSKLCVQNKKCRNQHQRLLKNMGAHSVVLDLLQIPYEKNDEKMNEVMNLAHTFLQNFCRGNPQNQVLLHKHL
NLFLTPGLLEAETMRHIFMNNYHLCNEISERVVQHFVHCIETHGRHVEYLRFLQTIVKADGKYVKKCQDMVMTELINGGEDVLIFYNDRA
SFPILLHMMCSERDRGDESGPLAYHITLVELLAACTEGKNVYTEIKCNSLLPLDDIVRVVTHDDCIPEVKIAYVNFVNHCYVDTEVEMKE
IYTSNHIWKLFENFLVDMARVCNTTTDRKHADIFLEKCVTESIMNIVSGFFNSPFSDNSTSLQTHQPVFIQLLQSAFRIYNCTWPNPAQK
ASVESCIRTLAEVAKNRGIAIPVDLDSQVNTLFMKSHSNMVQRAAMGWRLSARSGPRFKEALGGPAWDYRNIIEKLQDVVASLEHQFSPM
MQAEFSVLVDVLYSPELLFPEGSDARIRCGAFMSKLINHTKKLMEKEEKLCIKILQTLREMLEKKDSFVEEDSYRKQVVIDGETCLLDIL
DTAGQEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHHYREQIKRVKDSEDVPMVLVGNKCDLPSRTVDTKQAQDLARSYGIPFIETSA

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

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/chr12:26703180/chr12:25380346)
- 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

KRAS

P01116

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: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:20949621). Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). {ECO:0000269|PubMed:20949621, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24623306, ECO:0000305}.

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
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757112_1661691.02702.0DomainMIR 1
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757173_2231691.02702.0DomainMIR 2
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757231_2871691.02702.0DomainMIR 3
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757294_3721691.02702.0DomainMIR 4
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757378_4341691.02702.0DomainMIR 5
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757265_2691691.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757507_5101691.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-3757567_5691691.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneKRASchr12:26703180chr12:25380346ENST0000025607816116_11937.0333.3333333333333Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST000002560781659_6037.0333.3333333333333Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST0000031193615116_11937.0189.0Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST000003119361559_6037.0189.0Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST0000025607816166_18537.0333.3333333333333RegionNote=Hypervariable region
TgeneKRASchr12:26703180chr12:25380346ENST0000031193615166_18537.0189.0RegionNote=Hypervariable region

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16112_1660.0182.0DomainMIR 1
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16173_2230.0182.0DomainMIR 2
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16231_2870.0182.0DomainMIR 3
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16294_3720.0182.0DomainMIR 4
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16378_4340.0182.0DomainMIR 5
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16265_2690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16507_5100.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-16567_5690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-161_22270.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162249_22600.0182.0Topological domainExtracellular
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162282_23070.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162329_23510.0182.0Topological domainExtracellular
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162373_23940.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162416_25210.0182.0Topological domainExtracellular
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162543_27010.0182.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37571_22271691.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572249_22601691.02702.0Topological domainExtracellular
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572282_23071691.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572329_23511691.02702.0Topological domainExtracellular
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572373_23941691.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572416_25211691.02702.0Topological domainExtracellular
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572543_27011691.02702.0Topological domainCytoplasmic
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162228_22480.0182.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162261_22810.0182.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162308_23280.0182.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162352_23720.0182.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162395_24150.0182.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000242737-162522_25420.0182.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572228_22481691.02702.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572261_22811691.02702.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572308_23281691.02702.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572352_23721691.02702.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572395_24151691.02702.0TransmembraneHelical
HgeneITPR2chr12:26703180chr12:25380346ENST00000381340-37572522_25421691.02702.0TransmembraneHelical
TgeneKRASchr12:26703180chr12:25380346ENST000002560781632_4037.0333.3333333333333MotifNote=Effector region
TgeneKRASchr12:26703180chr12:25380346ENST000003119361532_4037.0189.0MotifNote=Effector region
TgeneKRASchr12:26703180chr12:25380346ENST000002560781610_1837.0333.3333333333333Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST000002560781629_3537.0333.3333333333333Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST000003119361510_1837.0189.0Nucleotide bindingGTP
TgeneKRASchr12:26703180chr12:25380346ENST000003119361529_3537.0189.0Nucleotide bindingGTP


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
KRAS


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-KRAS


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

Top

Related Diseases to ITPR2-KRAS


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