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Fusion gene ID: 16659 |
FusionGeneSummary for HOMER1_EFNB3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HOMER1_EFNB3 | Fusion gene ID: 16659 | Hgene | Tgene | Gene symbol | HOMER1 | EFNB3 | Gene ID | 9456 | 1949 |
Gene name | homer scaffold protein 1 | ephrin B3 | |
Synonyms | HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1 | EFL6|EPLG8|LERK8 | |
Cytomap | 5q14.1 | 17p13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | homer protein homolog 1homer homolog 1homer scaffolding protein 1homer, neuronal immediate early gene, 1homer-1 | ephrin-B3EPH-related receptor transmembrane ligand ELK-L3eph-related receptor tyrosine kinase ligand 8 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q86YM7 | Q15768 | |
Ensembl transtripts involved in fusion gene | ENST00000334082, ENST00000535690, ENST00000508576, ENST00000282260, | ENST00000226091, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 1=4 |
# samples | 3 | 2 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: HOMER1 [Title/Abstract] AND EFNB3 [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 | HOMER1 | GO:0051592 | response to calcium ion | 14505576 |
Tgene | EFNB3 | GO:0048013 | ephrin receptor signaling pathway | 8808709 |
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 | BF935692 | HOMER1 | chr5 | 78808692 | - | EFNB3 | chr17 | 7613903 | + |
* 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-3UTR | ENST00000334082 | ENST00000226091 | HOMER1 | chr5 | 78808692 | - | EFNB3 | chr17 | 7613903 | + |
intron-3UTR | ENST00000535690 | ENST00000226091 | HOMER1 | chr5 | 78808692 | - | EFNB3 | chr17 | 7613903 | + |
intron-3UTR | ENST00000508576 | ENST00000226091 | HOMER1 | chr5 | 78808692 | - | EFNB3 | chr17 | 7613903 | + |
intron-3UTR | ENST00000282260 | ENST00000226091 | HOMER1 | chr5 | 78808692 | - | EFNB3 | chr17 | 7613903 | + |
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FusionProtFeatures for HOMER1_EFNB3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HOMER1 | EFNB3 |
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}. | Cell surface transmembrane ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. May play a pivotal role in forebrainfunction. Binds to, and induce the collapse of, commissuralaxons/growth cones in vitro. May play a role in constraining theorientation of longitudinally projecting axons (By similarity).{ECO:0000250}. (Microbial infection) Acts as a receptor for nipah virusand hendra virus. {ECO:0000269|PubMed:16477309,ECO:0000269|PubMed:17376907}. |
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 HOMER1_EFNB3 |
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 HOMER1_EFNB3 |
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 HOMER1_EFNB3 |
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 HOMER1_EFNB3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HOMER1 | C0036341 | Schizophrenia | 4 | PSYGENET |
Hgene | HOMER1 | C0011570 | Mental Depression | 3 | PSYGENET |
Hgene | HOMER1 | C0011581 | Depressive disorder | 3 | PSYGENET |
Hgene | HOMER1 | C0236736 | Cocaine-Related Disorders | 2 | CTD_human |
Hgene | HOMER1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | HOMER1 | C0013386 | Dyskinesia, Drug-Induced | 1 | CTD_human |
Hgene | HOMER1 | C0018524 | Hallucinations | 1 | CTD_human |
Hgene | HOMER1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | HOMER1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | HOMER1 | C0237123 | Alcohol or Other Drugs use | 1 | PSYGENET |
Hgene | HOMER1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |