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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17951

FusionGeneSummary for ITPR2_CLIC1

check button Fusion gene summary
Fusion gene informationFusion gene name: ITPR2_CLIC1
Fusion gene ID: 17951
HgeneTgene
Gene symbol

ITPR2

CLIC1

Gene ID

3709

1192

Gene nameinositol 1,4,5-trisphosphate receptor type 2chloride intracellular channel 1
SynonymsANHD|CFAP48|INSP3R2|IP3R2CL1C1|G6|NCC27
Cytomap

12p11.23

6p21.33

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptorchloride intracellular channel protein 1RNCC proteinchloride channel ABPhRNCCnuclear chloride ion channel 27nuclear chloride ion channel proteinp64CLCPregulatory nuclear chloride ion channel protein
Modification date2018052320180523
UniProtAcc

Q14571

O00299

Ensembl transtripts involved in fusion geneENST00000381340, ENST00000545902, 
ENST00000242737, 
ENST00000375784, 
ENST00000375779, ENST00000375780, 
ENST00000395892, ENST00000457485, 
ENST00000423804, ENST00000447369, 
ENST00000447338, ENST00000422167, 
ENST00000438708, ENST00000431921, 
ENST00000415179, ENST00000418285, 
ENST00000423055, ENST00000442045, 
ENST00000435242, ENST00000400052, 
ENST00000383404, ENST00000383405, 
ENST00000400058, ENST00000456863, 
ENST00000434202, ENST00000420458, 
ENST00000433916, ENST00000425464, 
ENST00000423143, ENST00000438750, 
ENST00000451546, 
Fusion gene scores* DoF score13 X 9 X 8=9364 X 4 X 3=48
# samples 154
** MAII scorelog2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITPR2 [Title/Abstract] AND CLIC1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneCLIC1

GO:0006821

chloride transport

9139710


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLIHCTCGA-MI-A75I-01AITPR2chr12

26943090

-CLIC1chr6

31704127

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000381340ENST00000375784ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000381340ENST00000375779ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000381340ENST00000375780ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000381340ENST00000395892ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000457485ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000423804ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000447369ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000447338ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000422167ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000438708ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000431921ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000415179ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000418285ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000423055ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000442045ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000435242ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000400052ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000383404ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000383405ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000400058ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000456863ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000434202ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000420458ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000433916ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000425464ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000423143ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000438750ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000381340ENST00000451546ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-5UTRENST00000545902ENST00000375784ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-5UTRENST00000545902ENST00000375779ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-5UTRENST00000545902ENST00000375780ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-5UTRENST00000545902ENST00000395892ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000457485ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000423804ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000447369ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000447338ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000422167ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000438708ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000431921ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000415179ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000418285ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000423055ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000442045ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000435242ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000400052ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000383404ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000383405ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000400058ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000456863ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000434202ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000420458ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000433916ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000425464ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000423143ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000438750ITPR2chr12

26943090

-CLIC1chr6

31704127

-
intron-intronENST00000545902ENST00000451546ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000242737ENST00000375784ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000242737ENST00000375779ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000242737ENST00000375780ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-5UTRENST00000242737ENST00000395892ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000457485ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000423804ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000447369ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000447338ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000422167ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000438708ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000431921ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000415179ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000418285ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000423055ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000442045ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000435242ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000400052ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000383404ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000383405ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000400058ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000456863ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000434202ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000420458ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000433916ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000425464ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000423143ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000438750ITPR2chr12

26943090

-CLIC1chr6

31704127

-
5CDS-intronENST00000242737ENST00000451546ITPR2chr12

26943090

-CLIC1chr6

31704127

-

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FusionProtFeatures for ITPR2_CLIC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITPR2

Q14571

CLIC1

O00299

Receptor for inositol 1,4,5-trisphosphate, a secondmessenger that mediates the release of intracellular calcium. Thisrelease is regulated by cAMP both dependently and independently ofPKA (By similarity). {ECO:0000250|UniProtKB:Q9Z329}. Can insert into membranes and form chloride ionchannels. Channel activity depends on the pH. Membrane insertionseems to be redox-regulated and may occur only under oxydizingconditions. Involved in regulation of the cell cycle.{ECO:0000269|PubMed:10834939, ECO:0000269|PubMed:11195932,ECO:0000269|PubMed:11551966, ECO:0000269|PubMed:11940526,ECO:0000269|PubMed:11978800, ECO:0000269|PubMed:14613939,ECO:0000269|PubMed:9139710}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ITPR2_CLIC1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ITPR2_CLIC1


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ITPR2TRPC4, NXF1, CCDC8, CA8, CACNG2, P2RY12, TESPA1, BBOX1, PSMC3, LPAR1, HERC2, CAPZA2, MYH9, NUP107, CTDNEP1, RAB29, L3MBTL2, FAM19A4, ZNRF4, CHRNA3, IPPKCLIC1LSM1, TRAPPC2, AKAP9, ARRB2, ISG15, CDK2, MYOC, GRK5, FN1, VCAM1, ATF2, ITGA4, ATP5F1, CPT1A, NTF4, RPLP1, THRA, ZNF184, IKBKG, PRDX4, NUP62, ZNF302, ALOX5AP, ATP6V0C, ATP6V0A1, FBXO6, PSMD10, CUL7, COG3, FRA10AC1, HIBCH, HSD17B10, MTHFD2, PSMA1, PSMA5, RDX, ST13, TAGLN3, DDB1, SEPHS1, NTRK1, EWSR1, CAPZA2, PPP1CC, IQGAP1, SLC33A1, SYNPO, ANLN, MYO5C, U2AF2, CDH1, TPRN, PROSER2, SDF2L1, CCND2, BRCA1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ITPR2_CLIC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCLIC1O00299DB11638ArtenimolChloride intracellular channel protein 1small moleculeapproved|investigational

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RelatedDiseases for ITPR2_CLIC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITPR2C0018800Cardiomegaly1CTD_human
HgeneITPR2C1527348Brain Hypoxia1CTD_human
HgeneITPR2C1862871ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS1ORPHANET;UNIPROT
TgeneCLIC1C0019693HIV Infections1CTD_human
TgeneCLIC1C0022548Keloid1CTD_human
TgeneCLIC1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCLIC1C0027627Neoplasm Metastasis1CTD_human
TgeneCLIC1C0029408Degenerative polyarthritis1CTD_human
TgeneCLIC1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneCLIC1C1458155Mammary Neoplasms1CTD_human