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Fusion gene ID: 17958 |
FusionGeneSummary for ITPR2_RAD17 |
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Fusion gene information | Fusion gene name: ITPR2_RAD17 | Fusion gene ID: 17958 | Hgene | Tgene | Gene symbol | ITPR2 | RAD17 | Gene ID | 3709 | 5884 |
Gene name | inositol 1,4,5-trisphosphate receptor type 2 | RAD17 checkpoint clamp loader component | |
Synonyms | ANHD|CFAP48|INSP3R2|IP3R2 | CCYC|HRAD17|R24L|RAD17SP|RAD24 | |
Cytomap | 12p11.23 | 5q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | inositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptor | cell cycle checkpoint protein RAD17RAD1 homologRAD17 homologRF-C activator 1 homologRad17-like proteincell cycle checkpoint protein (RAD17) | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q14571 | O75943 | |
Ensembl transtripts involved in fusion gene | ENST00000381340, ENST00000545902, ENST00000242737, | ENST00000361732, ENST00000509734, ENST00000354868, ENST00000521422, ENST00000504177, ENST00000354312, ENST00000345306, ENST00000305138, ENST00000282891, ENST00000358030, ENST00000380774, | |
Fusion gene scores | * DoF score | 13 X 9 X 8=936 | 5 X 5 X 4=100 |
# samples | 15 | 5 | |
** MAII score | log2(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 annotation | DDR (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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ITPR2 | GO:0001666 | response to hypoxia | 19120137 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | STAD | TCGA-BR-8678-01A | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000381340 | ENST00000361732 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
Frame-shift | ENST00000381340 | ENST00000509734 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
Frame-shift | ENST00000381340 | ENST00000354868 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
Frame-shift | ENST00000381340 | ENST00000521422 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000504177 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000354312 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000345306 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000305138 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000282891 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000358030 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
5CDS-intron | ENST00000381340 | ENST00000380774 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000545902 | ENST00000361732 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000545902 | ENST00000509734 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000545902 | ENST00000354868 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000545902 | ENST00000521422 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000504177 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000354312 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000345306 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000305138 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000282891 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000358030 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000545902 | ENST00000380774 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000242737 | ENST00000361732 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000242737 | ENST00000509734 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000242737 | ENST00000354868 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-3CDS | ENST00000242737 | ENST00000521422 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000504177 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000354312 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000345306 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000305138 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000282891 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000358030 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
intron-intron | ENST00000242737 | ENST00000380774 | ITPR2 | chr12 | 26553061 | - | RAD17 | chr5 | 68706320 | + |
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FusionProtFeatures for ITPR2_RAD17 |
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Hgene | Tgene |
ITPR2 | RAD17 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ITPR2_RAD17 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ITPR2 | TRPC4, NXF1, CCDC8, CA8, CACNG2, P2RY12, TESPA1, BBOX1, PSMC3, LPAR1, HERC2, CAPZA2, MYH9, NUP107, CTDNEP1, RAB29, L3MBTL2, FAM19A4, ZNRF4, CHRNA3, IPPK | RAD17 | ATM, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ITPR2_RAD17 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ITPR2_RAD17 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ITPR2 | C0018800 | Cardiomegaly | 1 | CTD_human |
Hgene | ITPR2 | C1527348 | Brain Hypoxia | 1 | CTD_human |
Hgene | ITPR2 | C1862871 | ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS | 1 | ORPHANET;UNIPROT |