|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 39122 |
FusionGeneSummary for TOX3_HEYL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TOX3_HEYL | Fusion gene ID: 39122 | Hgene | Tgene | Gene symbol | TOX3 | HEYL | Gene ID | 27324 | 26508 |
| Gene name | TOX high mobility group box family member 3 | hes related family bHLH transcription factor with YRPW motif-like | |
| Synonyms | CAGF9|TNRC9 | HESR3|HEY3|HRT3|bHLHb33 | |
| Cytomap | 16q12.1 | 1p34.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TOX high mobility group box family member 3CAG trinucleotide repeat-containing gene F9 proteintrinucleotide repeat-containing gene 9 protein | hairy/enhancer-of-split related with YRPW motif-like proteinHEY-like proteinHRT-3class B basic helix-loop-helix protein 33hHRT3hHeyLhairy-related transcription factor 3hairy/enhancer-of-split related with YRPW motif 3 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O15405 | Q9NQ87 | |
| Ensembl transtripts involved in fusion gene | ENST00000407228, ENST00000219746, | ENST00000372852, ENST00000535435, | |
| Fusion gene scores | * DoF score | 7 X 5 X 4=140 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/140*10)=-0.807354922057604 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TOX3 [Title/Abstract] AND HEYL [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 | TOX3 | GO:0042981 | regulation of apoptotic process | 21172805 |
| Hgene | TOX3 | GO:0043524 | negative regulation of neuron apoptotic process | 21172805 |
| Hgene | TOX3 | GO:0045893 | positive regulation of transcription, DNA-templated | 21172805 |
| Tgene | HEYL | GO:0007219 | Notch signaling pathway | 10964718 |
| Tgene | HEYL | GO:0045892 | negative regulation of transcription, DNA-templated | 15485867|21454491 |
| Tgene | HEYL | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21290414 |
| Tgene | HEYL | GO:0060766 | negative regulation of androgen receptor signaling pathway | 21454491 |
| Tgene | HEYL | GO:2000824 | negative regulation of androgen receptor activity | 21454491 |
| 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 | RV | LUAD | TCGA-97-8177-01A | TOX3 | chr16 | 52497846 | - | HEYL | chr1 | 40098387 | - |
| * 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 |
| Frame-shift | ENST00000407228 | ENST00000372852 | TOX3 | chr16 | 52497846 | - | HEYL | chr1 | 40098387 | - |
| 5CDS-5UTR | ENST00000407228 | ENST00000535435 | TOX3 | chr16 | 52497846 | - | HEYL | chr1 | 40098387 | - |
| Frame-shift | ENST00000219746 | ENST00000372852 | TOX3 | chr16 | 52497846 | - | HEYL | chr1 | 40098387 | - |
| 5CDS-5UTR | ENST00000219746 | ENST00000535435 | TOX3 | chr16 | 52497846 | - | HEYL | chr1 | 40098387 | - |
Top |
FusionProtFeatures for TOX3_HEYL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TOX3 | HEYL |
| Transcriptional coactivator of the p300/CBP-mediatedtranscription complex. Activates transactivation through cAMPresponse element (CRE) sites. Protects against cell death byinducing antiapoptotic and repressing pro-apoptotic transcripts.Stimulates transcription from the estrogen-responsive or BCL-2promoters. Required for depolarization-induced transcriptionactivation of the C-FOS promoter in neurons. Associates withchromatin to the estrogen-responsive C3 promoter region.{ECO:0000269|PubMed:21172805}. | Downstream effector of Notch signaling which may berequired for cardiovascular development (By similarity).Transcriptional repressor which binds preferentially to thecanonical E box sequence 5'-CACGTG-3' (By similarity). Repressestranscription by the cardiac transcriptional activators GATA4 andGATA6. {ECO:0000250, ECO:0000269|PubMed:15485867}. |
| 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 |
Top |
FusionGeneSequence for TOX3_HEYL |
| 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). |
Top |
FusionGenePPI for TOX3_HEYL |
| 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 |
| TOX3 | ODF2, TMEM67 | HEYL | RBPMS, HAND1, SP8, APP, HTT, ATXN1, SMAD7, SMAD9, SKIL, PPP1CA, SMAD3, LAPTM5, ZNF512B, HIPK3, MDFI, RPGRIP1, ARL10, FNTA, PGGT1B, FBXO45 |
| - 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 |
Top |
RelatedDrugs for TOX3_HEYL |
| 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 |
Top |
RelatedDiseases for TOX3_HEYL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TOX3 | C0242788 | Breast Neoplasms, Male | 1 | CTD_human |
| Hgene | TOX3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | HEYL | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|