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Fusion gene ID: 11502 |
FusionGeneSummary for ELP3_FZD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ELP3_FZD3 | Fusion gene ID: 11502 | Hgene | Tgene | Gene symbol | ELP3 | FZD3 | Gene ID | 55140 | 7976 |
| Gene name | elongator acetyltransferase complex subunit 3 | frizzled class receptor 3 | |
| Synonyms | KAT9 | Fz-3 | |
| Cytomap | 8p21.1 | 8p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | elongator complex protein 3elongation protein 3 homolog | frizzled-3frizzled 3, seven transmembrane spanning receptorfrizzled family receptor 3frizzled homolog 3 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H9T3 | Q9NPG1 | |
| Ensembl transtripts involved in fusion gene | ENST00000521015, ENST00000256398, ENST00000542181, ENST00000523760, ENST00000524103, ENST00000537665, ENST00000380353, | ENST00000537916, ENST00000240093, ENST00000517911, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ELP3 [Title/Abstract] AND FZD3 [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 | ELP3 | GO:0006357 | regulation of transcription by RNA polymerase II | 11818576 |
| Hgene | ELP3 | GO:0043966 | histone H3 acetylation | 11714725 |
| Hgene | ELP3 | GO:0043967 | histone H4 acetylation | 11714725 |
| Tgene | FZD3 | GO:0060070 | canonical Wnt signaling pathway | 20802536 |
| 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 |
| TCGA | LD | PRAD | TCGA-YL-A8SO-01B | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| * 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 | ENST00000521015 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| intron-3CDS | ENST00000521015 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| intron-intron | ENST00000521015 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| Frame-shift | ENST00000256398 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| Frame-shift | ENST00000256398 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5CDS-intron | ENST00000256398 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000542181 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000542181 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-intron | ENST00000542181 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 3UTR-3CDS | ENST00000523760 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 3UTR-3CDS | ENST00000523760 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 3UTR-intron | ENST00000523760 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000524103 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000524103 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-intron | ENST00000524103 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000537665 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000537665 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-intron | ENST00000537665 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000380353 | ENST00000537916 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-3CDS | ENST00000380353 | ENST00000240093 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
| 5UTR-intron | ENST00000380353 | ENST00000517911 | ELP3 | chr8 | 27950750 | + | FZD3 | chr8 | 28378155 | + |
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FusionProtFeatures for ELP3_FZD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELP3 | FZD3 |
| Catalytic histone acetyltransferase subunit of the RNApolymerase II elongator complex, which is a component of the RNApolymerase II (Pol II) holoenzyme and is involved intranscriptional elongation. Elongator may play a role in chromatinremodeling and is involved in acetylation of histones H3 andprobably H4. Involved in acetylation of alpha-tubulin(PubMed:19185337). May also have a methyltransferase activity.Involved in cell migration. Involved in neurogenesis. Regulatesthe migration and branching of projection neurons in thedeveloping cerebral cortex, through a process depending on alpha-tubulin acetylation. {ECO:0000250|UniProtKB:Q9CZX0,ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576,ECO:0000269|PubMed:15902492, ECO:0000269|PubMed:16713582,ECO:0000269|PubMed:19185337}. | Receptor for Wnt proteins. Most of frizzled receptorsare coupled to the beta-catenin canonical signaling pathway, whichleads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation ofWnt target genes. A second signaling pathway involving PKC andcalcium fluxes has been seen for some family members, but it isnot yet clear if it represents a distinct pathway or if it can beintegrated in the canonical pathway, as PKC seems to be requiredfor Wnt-mediated inactivation of GSK-3 kinase. Both pathways seemto involve interactions with G-proteins. Activation by Wnt5Astimulates PKC activity via a G-protein-dependent mechanism.Involved in transduction and intercellular transmission ofpolarity information during tissue morphogenesis and/or indifferentiated tissues. Plays a role in controlling early axongrowth and guidance processes necessary for the formation of asubset of central and peripheral major fiber tracts. Required forthe development of major fiber tracts in the central nervoussystem, including: the anterior commissure, the corpus callosum,the thalamocortical, corticothalamic and nigrostriatal tracts, thecorticospinal tract, the fasciculus retroflexus, themammillothalamic tract, the medial lemniscus, and ascending fibertracts from the spinal cord to the brain. In the peripheralnervous system, controls axon growth in distinct populations ofcranial and spinal motor neurons, including the facialbranchimotor nerve, the hypoglossal nerve, the phrenic nerve, andmotor nerves innervating dorsal limbs. Involved in the migrationof cranial neural crest cells. May also be implicated in thetransmission of sensory information from the trunk and limbs tothe brain. Controls commissural sensory axons guidance aftermidline crossing along the anterior-posterior axis in thedeveloping spinal cord in a Wnt-dependent signaling pathway.Together with FZD6, is involved in the neural tube closure andplays a role in the regulation of the establishment of planar cellpolarity (PCP), particularly in the orientation of asymmetricbundles of stereocilia on the apical faces of a subset of auditoryand vestibular sensory cells located in the inner ear. Promotesneurogenesis by maintaining sympathetic neuroblasts within thecell cycle in a beta-catenin-dependent manner (By similarity).{ECO:0000250|UniProtKB:Q61086}. |
| 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 ELP3_FZD3 |
| 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 ELP3_FZD3 |
| 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 |
| ELP3 | IKBKAP, POLR2A, ELP2, ELP4, PCNA, HIST2H3C, HIST1H4A, CTDP1, MMS19, SNRNP200, WRNIP1, DCP2, FAM96B, CIAO1, MPG, PCGF6, PRPS1, QPCT, SKAP1, KPTN, FAM219B, IFI30, WDR36, NTRK1, FGFR1OP, PARD6A, ANLN, SMC6, IP6K3, FOXP3, PCGF1, NANOG, POU5F1, DUSP9, CAMK2D, ISOC2, SSSCA1 | FZD3 | SYNE4, VNN2, XAGE1B, UPK1A, GPR21, GPR114, ZBBX |
| - 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 ELP3_FZD3 |
| 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 ELP3_FZD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FZD3 | C0036341 | Schizophrenia | 5 | PSYGENET |
| Tgene | FZD3 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | FZD3 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | FZD3 | C0525045 | Mood Disorders | 1 | PSYGENET |
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