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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: 17958

FusionGeneSummary for ITPR2_RAD17

check button Fusion gene summary
Fusion gene informationFusion gene name: ITPR2_RAD17
Fusion gene ID: 17958
HgeneTgene
Gene symbol

ITPR2

RAD17

Gene ID

3709

5884

Gene nameinositol 1,4,5-trisphosphate receptor type 2RAD17 checkpoint clamp loader component
SynonymsANHD|CFAP48|INSP3R2|IP3R2CCYC|HRAD17|R24L|RAD17SP|RAD24
Cytomap

12p11.23

5q13.2

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptorcell cycle checkpoint protein RAD17RAD1 homologRAD17 homologRF-C activator 1 homologRad17-like proteincell cycle checkpoint protein (RAD17)
Modification date2018052320180523
UniProtAcc

Q14571

O75943

Ensembl transtripts involved in fusion geneENST00000381340, ENST00000545902, 
ENST00000242737, 		ENST00000361732, 
ENST00000509734, ENST00000354868, 
ENST00000521422, ENST00000504177, 
ENST00000354312, ENST00000345306, 
ENST00000305138, ENST00000282891, 
ENST00000358030, ENST00000380774, 
Fusion gene scores* DoF score13 X 9 X 8=9365 X 5 X 4=100
# samples 155
** MAII scorelog2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITPR2 [Title/Abstract] AND RAD17 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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 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
TCGARVSTADTCGA-BR-8678-01AITPR2chr12

26553061

-RAD17chr5

68706320

+
* 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
Frame-shitENST00000381340ENST00000361732ITPR2chr12

26553061

-RAD17chr5

68706320

+
Frame-shitENST00000381340ENST00000509734ITPR2chr12

26553061

-RAD17chr5

68706320

+
Frame-shitENST00000381340ENST00000354868ITPR2chr12

26553061

-RAD17chr5

68706320

+
Frame-shitENST00000381340ENST00000521422ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000504177ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000354312ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000345306ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000305138ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000282891ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000358030ITPR2chr12

26553061

-RAD17chr5

68706320

+
5CDS-intronENST00000381340ENST00000380774ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000545902ENST00000361732ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000545902ENST00000509734ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000545902ENST00000354868ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000545902ENST00000521422ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000504177ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000354312ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000345306ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000305138ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000282891ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000358030ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000545902ENST00000380774ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000242737ENST00000361732ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000242737ENST00000509734ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000242737ENST00000354868ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-3CDSENST00000242737ENST00000521422ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000504177ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000354312ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000345306ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000305138ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000282891ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000358030ITPR2chr12

26553061

-RAD17chr5

68706320

+
intron-intronENST00000242737ENST00000380774ITPR2chr12

26553061

-RAD17chr5

68706320

+

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FusionProtFeatures for ITPR2_RAD17


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

Q14571

RAD17

O75943

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}.

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_RAD17


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_RAD17


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, IPPKRAD17ATM, ATR, PRKDC, RAD9B, RAD9A, RFC2, RFC3, RFC4, RFC5, POLE, POLE2, POLE3, POLE4, HUS1, RAD1, NHP2L1, RFC1, USP20, ALK, CLSPN, FOXO3, H2AFX, CDH1, CBX6, CBX7, PRMT6, COPS7A, CHEK2, CHEK1, TOP1, TOP2A, TOP3A


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_RAD17


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ITPR2_RAD17


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