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Fusion gene ID: 17955 |
FusionGeneSummary for ITPR2_HOMER1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ITPR2_HOMER1 | Fusion gene ID: 17955 | Hgene | Tgene | Gene symbol | ITPR2 | HOMER1 | Gene ID | 3709 | 9456 |
Gene name | inositol 1,4,5-trisphosphate receptor type 2 | homer scaffold protein 1 | |
Synonyms | ANHD|CFAP48|INSP3R2|IP3R2 | HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1 | |
Cytomap | 12p11.23 | 5q14.1 | |
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 | homer protein homolog 1homer homolog 1homer scaffolding protein 1homer, neuronal immediate early gene, 1homer-1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q14571 | Q86YM7 | |
Ensembl transtripts involved in fusion gene | ENST00000381340, ENST00000545902, ENST00000242737, | ENST00000334082, ENST00000535690, ENST00000508576, ENST00000282260, | |
Fusion gene scores | * DoF score | 13 X 9 X 8=936 | 1 X 1 X 1=1 |
# samples | 15 | 1 | |
** MAII score | log2(15/936*10)=-2.64154602908752 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: ITPR2 [Title/Abstract] AND HOMER1 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ITPR2 | GO:0001666 | response to hypoxia | 19120137 |
Tgene | HOMER1 | GO:0051592 | response to calcium ion | 14505576 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AK122857 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000381340 | ENST00000334082 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000381340 | ENST00000535690 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000381340 | ENST00000508576 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000381340 | ENST00000282260 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-3CDS | ENST00000545902 | ENST00000334082 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000545902 | ENST00000535690 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000545902 | ENST00000508576 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000545902 | ENST00000282260 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-3CDS | ENST00000242737 | ENST00000334082 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000242737 | ENST00000535690 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000242737 | ENST00000508576 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
intron-intron | ENST00000242737 | ENST00000282260 | ITPR2 | chr12 | 26832853 | - | HOMER1 | chr5 | 78742912 | - |
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FusionProtFeatures for ITPR2_HOMER1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ITPR2 | HOMER1 |
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}. | Postsynaptic density scaffolding protein. Binds andcross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1,RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 withER-associated ITPR1 receptors, it aids the coupling of surfacereceptors to intracellular calcium release. May also couple GRM1to PI3 kinase through its interaction with AGAP2. Isoform 1regulates the trafficking and surface expression of GRM5. Isoform3 acts as a natural dominant negative, in dynamic competition withconstitutively expressed isoform 1 to regulate synapticmetabotropic glutamate function. Isoform 3, may be involved in thestructural changes that occur at synapses during long-lastingneuronal plasticity and development. Forms a high-order complexwith SHANK1, which in turn is necessary for the structural andfunctional integrity of dendritic spines (By similarity).{ECO:0000250|UniProtKB:Q9Z214}. |
Retention 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 . * 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_HOMER1 |
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_HOMER1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ITPR2_HOMER1 |
Drugs targeting genes involved in this fusion gene. (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_HOMER1 |
Diseases associated with fusion partners. (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 |
Tgene | HOMER1 | C0036341 | Schizophrenia | 4 | PSYGENET |
Tgene | HOMER1 | C0011570 | Mental Depression | 3 | PSYGENET |
Tgene | HOMER1 | C0011581 | Depressive disorder | 3 | PSYGENET |
Tgene | HOMER1 | C0236736 | Cocaine-Related Disorders | 2 | CTD_human |
Tgene | HOMER1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | HOMER1 | C0013386 | Dyskinesia, Drug-Induced | 1 | CTD_human |
Tgene | HOMER1 | C0018524 | Hallucinations | 1 | CTD_human |
Tgene | HOMER1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | HOMER1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Tgene | HOMER1 | C0237123 | Alcohol or Other Drugs use | 1 | PSYGENET |
Tgene | HOMER1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |