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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: 17955

FusionGeneSummary for ITPR2_HOMER1

check button Fusion gene summary
Fusion gene informationFusion gene name: ITPR2_HOMER1
Fusion gene ID: 17955
HgeneTgene
Gene symbol

ITPR2

HOMER1

Gene ID

3709

9456

Gene nameinositol 1,4,5-trisphosphate receptor type 2homer scaffold protein 1
SynonymsANHD|CFAP48|INSP3R2|IP3R2HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1
Cytomap

12p11.23

5q14.1

Type of geneprotein-codingprotein-coding
Descriptioninositol 1,4,5-trisphosphate receptor type 2IP3 receptorIP3R 2cilia and flagella associated protein 48type 2 InsP3 receptorhomer protein homolog 1homer homolog 1homer scaffolding protein 1homer, neuronal immediate early gene, 1homer-1
Modification date2018052320180523
UniProtAcc

Q14571

Q86YM7

Ensembl transtripts involved in fusion geneENST00000381340, ENST00000545902, 
ENST00000242737, 
ENST00000334082, 
ENST00000535690, ENST00000508576, 
ENST00000282260, 
Fusion gene scores* DoF score13 X 9 X 8=9361 X 1 X 1=1
# samples 151
** MAII scorelog2(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)

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

TgeneHOMER1

GO:0051592

response to calcium ion

14505576


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
ChiTaRS3.1AK122857ITPR2chr12

26832853

-HOMER1chr5

78742912

-
* 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
intron-3CDSENST00000381340ENST00000334082ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000381340ENST00000535690ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000381340ENST00000508576ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000381340ENST00000282260ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-3CDSENST00000545902ENST00000334082ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000545902ENST00000535690ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000545902ENST00000508576ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000545902ENST00000282260ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-3CDSENST00000242737ENST00000334082ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000242737ENST00000535690ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000242737ENST00000508576ITPR2chr12

26832853

-HOMER1chr5

78742912

-
intron-intronENST00000242737ENST00000282260ITPR2chr12

26832853

-HOMER1chr5

78742912

-

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FusionProtFeatures for ITPR2_HOMER1


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

Q14571

HOMER1

Q86YM7

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}.

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_HOMER1


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_HOMER1


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


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_HOMER1


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_HOMER1


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
TgeneHOMER1C0036341Schizophrenia4PSYGENET
TgeneHOMER1C0011570Mental Depression3PSYGENET
TgeneHOMER1C0011581Depressive disorder3PSYGENET
TgeneHOMER1C0236736Cocaine-Related Disorders2CTD_human
TgeneHOMER1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneHOMER1C0013386Dyskinesia, Drug-Induced1CTD_human
TgeneHOMER1C0018524Hallucinations1CTD_human
TgeneHOMER1C0041696Unipolar Depression1PSYGENET
TgeneHOMER1C0041755Adverse reaction to drug1CTD_human
TgeneHOMER1C0237123Alcohol or Other Drugs use1PSYGENET
TgeneHOMER1C1269683Major Depressive Disorder1PSYGENET