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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:YWHAQ-ITGB1BP1 (FusionGDB2 ID:100197) |
Fusion Gene Summary for YWHAQ-ITGB1BP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: YWHAQ-ITGB1BP1 | Fusion gene ID: 100197 | Hgene | Tgene | Gene symbol | YWHAQ | ITGB1BP1 | Gene ID | 10971 | 9270 |
| Gene name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta | integrin subunit beta 1 binding protein 1 | |
| Synonyms | 14-3-3|1C5|HS1 | ICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B | |
| Cytomap | 2p25.1 | 2p25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 14-3-3 protein theta14-3-3 protein T-cell14-3-3 protein tau14-3-3 thetaprotein, thetatyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide | integrin beta-1-binding protein 1bodeninintegrin cytoplasmic domain-associated protein 1integrin cytoplasmic domain-associated protein 1-alphaintegrin cytoplasmic domain-associated protein 1-beta | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | . | O14713 | |
| Ensembl transtripts involved in fusion gene | ENST00000238081, ENST00000381844, ENST00000474715, | ENST00000238091, ENST00000355346, ENST00000360635, ENST00000359712, ENST00000456913, ENST00000488451, ENST00000490426, | |
| Fusion gene scores | * DoF score | 12 X 13 X 5=780 | 4 X 4 X 3=48 |
| # samples | 13 | 5 | |
| ** MAII score | log2(13/780*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: YWHAQ [Title/Abstract] AND ITGB1BP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | YWHAQ(9771069)-ITGB1BP1(9548334), # samples:1 YWHAQ(9771070)-ITGB1BP1(9548334), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | YWHAQ | GO:0045892 | negative regulation of transcription, DNA-templated | 15163635 |
| Tgene | ITGB1BP1 | GO:0002043 | blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 20616313 |
| Tgene | ITGB1BP1 | GO:0006469 | negative regulation of protein kinase activity | 20616313 |
| Tgene | ITGB1BP1 | GO:0007160 | cell-matrix adhesion | 9281591 |
| Tgene | ITGB1BP1 | GO:0007229 | integrin-mediated signaling pathway | 11919189|15703214 |
| Tgene | ITGB1BP1 | GO:0008284 | positive regulation of cell proliferation | 15703214 |
| Tgene | ITGB1BP1 | GO:0008285 | negative regulation of cell proliferation | 20616313 |
| Tgene | ITGB1BP1 | GO:0010595 | positive regulation of endothelial cell migration | 20616313 |
| Tgene | ITGB1BP1 | GO:0032091 | negative regulation of protein binding | 12473654 |
| Tgene | ITGB1BP1 | GO:0032148 | activation of protein kinase B activity | 20616313 |
| Tgene | ITGB1BP1 | GO:0035148 | tube formation | 20616313 |
| Tgene | ITGB1BP1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 20616313 |
| Tgene | ITGB1BP1 | GO:0043087 | regulation of GTPase activity | 11807099 |
| Tgene | ITGB1BP1 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 20616313 |
| Tgene | ITGB1BP1 | GO:0045747 | positive regulation of Notch signaling pathway | 20616313 |
| Tgene | ITGB1BP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15703214|20616313 |
| Tgene | ITGB1BP1 | GO:0051895 | negative regulation of focal adhesion assembly | 12473654 |
| Tgene | ITGB1BP1 | GO:0051897 | positive regulation of protein kinase B signaling | 20616313 |
| Tgene | ITGB1BP1 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 20616313 |
| Tgene | ITGB1BP1 | GO:0072659 | protein localization to plasma membrane | 17916086 |
| Tgene | ITGB1BP1 | GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | 20616313 |
| Tgene | ITGB1BP1 | GO:0090315 | negative regulation of protein targeting to membrane | 11807099 |
| Tgene | ITGB1BP1 | GO:0097746 | regulation of blood vessel diameter | 20616313 |
| Tgene | ITGB1BP1 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 11807099 |
| Fusion gene breakpoints across YWHAQ (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across ITGB1BP1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | HNSC | TCGA-MZ-A7D7 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| ChimerDB4 | HNSC | TCGA-MZ-A7D7 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
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Fusion Gene ORF analysis for YWHAQ-ITGB1BP1 |
| 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 |
| 5UTR-3CDS | ENST00000238081 | ENST00000238091 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-3CDS | ENST00000238081 | ENST00000238091 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-3CDS | ENST00000238081 | ENST00000355346 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-3CDS | ENST00000238081 | ENST00000355346 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-3CDS | ENST00000238081 | ENST00000360635 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-3CDS | ENST00000238081 | ENST00000360635 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000359712 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000359712 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000456913 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000456913 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000488451 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000488451 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000490426 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| 5UTR-5UTR | ENST00000238081 | ENST00000490426 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000381844 | ENST00000238091 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000381844 | ENST00000238091 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000381844 | ENST00000355346 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000381844 | ENST00000355346 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000381844 | ENST00000360635 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000381844 | ENST00000360635 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000474715 | ENST00000238091 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000474715 | ENST00000238091 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000474715 | ENST00000355346 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000474715 | ENST00000355346 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000474715 | ENST00000360635 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-3CDS | ENST00000474715 | ENST00000360635 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000359712 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000359712 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000456913 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000456913 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000488451 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000488451 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000490426 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000381844 | ENST00000490426 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000359712 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000359712 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000456913 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000456913 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000488451 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000488451 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000490426 | YWHAQ | chr2 | 9771069 | - | ITGB1BP1 | chr2 | 9548334 | - |
| intron-5UTR | ENST00000474715 | ENST00000490426 | YWHAQ | chr2 | 9771070 | - | ITGB1BP1 | chr2 | 9548334 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for YWHAQ-ITGB1BP1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for YWHAQ-ITGB1BP1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:9771069/:9548334) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | ITGB1BP1 |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Key regulator of the integrin-mediated cell-matrix interaction signaling by binding to the ITGB1 cytoplasmic tail and preventing the activation of integrin alpha-5/beta-1 (heterodimer of ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cell proliferation, differentiation, spreading, adhesion and migration in the context of mineralization and bone development and angiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling its assembly rate during cell adhesion; inhibits beta-1 integrin clustering within FA by directly competing with talin TLN1, and hence stimulates osteoblast spreading and migration in a fibronectin- and/or collagen-dependent manner. Acts as a guanine nucleotide dissociation inhibitor (GDI) by regulating Rho family GTPases during integrin-mediated cell matrix adhesion; reduces the level of active GTP-bound form of both CDC42 and RAC1 GTPases upon cell adhesion to fibronectin. Stimulates the release of active CDC42 from the membranes to maintain it in an inactive cytoplasmic pool. Participates in the translocation of the Rho-associated protein kinase ROCK1 to membrane ruffles at cell leading edges of the cell membrane, leading to an increase of myoblast cell migration on laminin. Plays a role in bone mineralization at a late stage of osteoblast differentiation; modulates the dynamic formation of focal adhesions into fibrillar adhesions, which are adhesive structures responsible for fibronectin deposition and fibrillogenesis. Plays a role in blood vessel development; acts as a negative regulator of angiogenesis by attenuating endothelial cell proliferation and migration, lumen formation and sprouting angiogenesis by promoting AKT phosphorylation and inhibiting ERK1/2 phosphorylation through activation of the Notch signaling pathway. Promotes transcriptional activity of the MYC promoter. {ECO:0000269|PubMed:11741838, ECO:0000269|PubMed:11807099, ECO:0000269|PubMed:11919189, ECO:0000269|PubMed:12473654, ECO:0000269|PubMed:15703214, ECO:0000269|PubMed:17916086, ECO:0000269|PubMed:20616313, ECO:0000269|PubMed:21768292, ECO:0000269|Ref.19}. |
| 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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Fusion Gene Sequence for YWHAQ-ITGB1BP1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for YWHAQ-ITGB1BP1 |
| 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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Related Drugs for YWHAQ-ITGB1BP1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for YWHAQ-ITGB1BP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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