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:C2CD5-ITPR2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: C2CD5-ITPR2
FusionPDB ID: 11619
FusionGDB2.0 ID: 42135
HgeneTgene
Gene symbol

C2CD5

ITPR2

Gene ID

9847

3709

Gene nameC2 calcium dependent domain containing 5inositol 1,4,5-trisphosphate receptor type 2
SynonymsCDP138|KIAA0528ANHD|CFAP48|INSP3R2|IP3R2
Cytomap

12p12.1

12p11.23

Type of geneprotein-codingprotein-coding
DescriptionC2 domain-containing protein 5138 kDa C2 domain-containing phosphoproteininositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor
Modification date2020031320200313
UniProtAcc

Q86YS7

Q14571

Ensembl transtripts involved in fusion geneENST idsENST00000333957, ENST00000396028, 
ENST00000446597, ENST00000536386, 
ENST00000542676, ENST00000544930, 
ENST00000545552, ENST00000540703, 
ENST00000242737, ENST00000545902, 
ENST00000381340, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 8 X 6=48027 X 21 X 12=6804
# samples 927
** MAII scorelog2(9/480*10)=-2.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(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: C2CD5 [Title/Abstract] AND ITPR2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)C2CD5(22666228)-ITPR2(26493261), # samples:1
Anticipated loss of major functional domain due to fusion event.C2CD5-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.
C2CD5-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.
C2CD5-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.
C2CD5-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.
C2CD5-ITPR2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
C2CD5-ITPR2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneC2CD5

GO:0032869

cellular response to insulin stimulus

21907143

TgeneITPR2

GO:0001666

response to hypoxia

19120137


check buttonFusion gene breakpoints across C2CD5 (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


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
ChimerDB4BRCATCGA-E2-A1LL-01AC2CD5chr12

22666228

-ITPR2chr12

26493261

-


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)
ENST00000542676C2CD5chr1222666228-ENST00000381340ITPR2chr1226493261-33781141581389443
ENST00000544930C2CD5chr1222666228-ENST00000381340ITPR2chr1226493261-345012132021461419

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
ENST00000542676ENST00000381340C2CD5chr1222666228-ITPR2chr1226493261-0.0005557910.9994442
ENST00000544930ENST00000381340C2CD5chr1222666228-ITPR2chr1226493261-0.0004863730.9995136

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

>11619_11619_1_C2CD5-ITPR2_C2CD5_chr12_22666228_ENST00000542676_ITPR2_chr12_26493261_ENST00000381340_length(amino acids)=443AA_BP=361
MFVSAGAQEEAETETMPGKLKVKIVAGRHLPVMDRASDLTDAFVEVKFGNTTFKTDVYLKSLNPQWNSEWFKFEVDDEDLQDEPLQITVL
DHDTYSANDAIGKVYIDIDPLLYSEAATVISGWFPIYDTIHGIRGEINVVVKVDLFNDLNRFRQSSCGVKFFCTTSIPKCYRAVIIHGFV
EELVVNEDPEYQWIDRIRTPRASNEARQRLISLMSGELQRKIGLKVLEMRGNAVVGYLQCFDLEGESGLVVRAIGTACTLDKLSSPAAFL
PACNSPSKEMKEIPFNEDPNPNTHSSGPSTPLKNQTYSFSPSKSYSRQSSSSDTDLSLTPKTGMGSGSAGKEGGPFKALLRQQTQSALEQ

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

>11619_11619_2_C2CD5-ITPR2_C2CD5_chr12_22666228_ENST00000544930_ITPR2_chr12_26493261_ENST00000381340_length(amino acids)=419AA_BP=337
MPGKLKVKIVAGRHLPVMDRASDLTDAFVEVKFGNTTFKTDVYLKSLNPQWNSEWFKFEVDDEDLQDEPLQITVLDHDTYSANDAIGKVY
IDIDPLLYSEAATVISGWFPIYDTIHGIRGEINVVVKVDLFNDLNRFRQSSCGVKFFCTTSIPKCYRAVIIHGFVEELVVNEDPEYQWID
RIRTPRASNEARQRLISLMSGELQRKIGLKVLEMRGNAVVGYLQCFDLEGESGLVVRAIGTACTLDKLSSPAAFLPACNSPSKEMKESPL
VHPPSHGCRSTHNSPIHTATGSRLTQNFSVSVPTLIYTGMGSGSAGKEGGPFKALLRQQTQSALEQREKNLDWFPRMRAMSLVSNEGDSE

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

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/chr12:22666228/chr12:26493261)
- 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
C2CD5

Q86YS7

ITPR2

Q14571

FUNCTION: Required for insulin-stimulated glucose transport and glucose transporter SLC2A4/GLUT4 translocation from intracellular glucose storage vesicle (GSV) to the plasma membrane (PM) in adipocytes. Binds phospholipid membranes in a calcium-dependent manner and is necessary for the optimal membrane fusion between SLC2A4/GLUT4 GSV and the PM. {ECO:0000269|PubMed:21907143}.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
HgeneC2CD5chr12:22666228chr12:26493261ENST00000333957-92513_27346.01001.0Calcium bindingNote=1%3B low affinity
HgeneC2CD5chr12:22666228chr12:26493261ENST00000333957-92575_86346.01001.0Calcium bindingNote=2%3B high affinity
HgeneC2CD5chr12:22666228chr12:26493261ENST00000396028-92713_27337.01043.0Calcium bindingNote=1%3B low affinity
HgeneC2CD5chr12:22666228chr12:26493261ENST00000396028-92775_86337.01043.0Calcium bindingNote=2%3B high affinity
HgeneC2CD5chr12:22666228chr12:26493261ENST00000333957-9251_109346.01001.0DomainC2
HgeneC2CD5chr12:22666228chr12:26493261ENST00000396028-9271_109337.01043.0DomainC2
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706112_1660.0182.0DomainMIR 1
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706173_2230.0182.0DomainMIR 2
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706231_2870.0182.0DomainMIR 3
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706294_3720.0182.0DomainMIR 4
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706378_4340.0182.0DomainMIR 5
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706265_2690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706507_5100.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chr12:22666228chr12:26493261ENST0000024273706567_5690.0182.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737061_22270.0182.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062249_22600.0182.0Topological domainExtracellular
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062282_23070.0182.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062329_23510.0182.0Topological domainExtracellular
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062373_23940.0182.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062416_25210.0182.0Topological domainExtracellular
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062543_27010.0182.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062228_22480.0182.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062261_22810.0182.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062308_23280.0182.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062352_23720.0182.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062395_24150.0182.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST00000242737062522_25420.0182.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457112_1662619.02702.0DomainMIR 1
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457173_2232619.02702.0DomainMIR 2
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457231_2872619.02702.0DomainMIR 3
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457294_3722619.02702.0DomainMIR 4
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457378_4342619.02702.0DomainMIR 5
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457265_2692619.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457507_5102619.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chr12:22666228chr12:26493261ENST000003813405457567_5692619.02702.0RegionInositol 1%2C4%2C5-trisphosphate binding
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054571_22272619.02702.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572249_22602619.02702.0Topological domainExtracellular
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572282_23072619.02702.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572329_23512619.02702.0Topological domainExtracellular
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572373_23942619.02702.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572416_25212619.02702.0Topological domainExtracellular
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572543_27012619.02702.0Topological domainCytoplasmic
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572228_22482619.02702.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572261_22812619.02702.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572308_23282619.02702.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572352_23722619.02702.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572395_24152619.02702.0TransmembraneHelical
TgeneITPR2chr12:22666228chr12:26493261ENST0000038134054572522_25422619.02702.0TransmembraneHelical


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
C2CD5
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


Top

Related Drugs to C2CD5-ITPR2


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

Top

Related Diseases to C2CD5-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