|
||||||
|
 | 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:ACVR1B-CS (FusionGDB2 ID:1890) |
Fusion Gene Summary for ACVR1B-CS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACVR1B-CS | Fusion gene ID: 1890 | Hgene | Tgene | Gene symbol | ACVR1B | CS | Gene ID | 91 | 1431 |
| Gene name | activin A receptor type 1B | citrate synthase | |
| Synonyms | ACTRIB|ACVRLK4|ALK4|SKR2 | - | |
| Cytomap | 12q13.13 | 12q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2 | citrate synthase, mitochondrialcitrate (Si)-synthase | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P36896 | Q9H114 | |
| Ensembl transtripts involved in fusion gene | ENST00000257963, ENST00000415850, ENST00000426655, ENST00000541224, ENST00000542485, ENST00000563121, | ENST00000351328, ENST00000542324, ENST00000548567, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 11 X 6 X 7=462 |
| # samples | 7 | 11 | |
| ** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/462*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACVR1B [Title/Abstract] AND CS [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ACVR1B(52380726)-CS(56680429), # 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 | ACVR1B | GO:0000082 | G1/S transition of mitotic cell cycle | 11117535 |
| Hgene | ACVR1B | GO:0006355 | regulation of transcription, DNA-templated | 8622651|12665502 |
| Hgene | ACVR1B | GO:0006468 | protein phosphorylation | 12065756 |
| Hgene | ACVR1B | GO:0007165 | signal transduction | 8622651|12665502 |
| Hgene | ACVR1B | GO:0018107 | peptidyl-threonine phosphorylation | 18039968 |
| Hgene | ACVR1B | GO:0030308 | negative regulation of cell growth | 11117535 |
| Hgene | ACVR1B | GO:0032924 | activin receptor signaling pathway | 9892009 |
| Hgene | ACVR1B | GO:0032927 | positive regulation of activin receptor signaling pathway | 16720724 |
| Hgene | ACVR1B | GO:0045648 | positive regulation of erythrocyte differentiation | 9032295 |
| Hgene | ACVR1B | GO:0046777 | protein autophosphorylation | 18039968 |
| Hgene | ACVR1B | GO:1901165 | positive regulation of trophoblast cell migration | 21356369 |
| Tgene | CS | GO:0005975 | carbohydrate metabolic process | 9543345 |
| Fusion gene breakpoints across ACVR1B (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 CS (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 | LIHC | TCGA-XR-A8TG-01A | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
Top |
Fusion Gene ORF analysis for ACVR1B-CS |
| 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 |
| 5CDS-5UTR | ENST00000257963 | ENST00000351328 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000257963 | ENST00000542324 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000257963 | ENST00000548567 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000415850 | ENST00000351328 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000415850 | ENST00000542324 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000415850 | ENST00000548567 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000426655 | ENST00000351328 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000426655 | ENST00000542324 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000426655 | ENST00000548567 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000541224 | ENST00000351328 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000541224 | ENST00000542324 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000541224 | ENST00000548567 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000542485 | ENST00000351328 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000542485 | ENST00000542324 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 5CDS-5UTR | ENST00000542485 | ENST00000548567 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| intron-5UTR | ENST00000563121 | ENST00000351328 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| intron-5UTR | ENST00000563121 | ENST00000542324 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| intron-5UTR | ENST00000563121 | ENST00000548567 | ACVR1B | chr12 | 52380726 | - | CS | chr12 | 56680429 | - |
| 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 |
Top |
Fusion Genomic Features for ACVR1B-CS |
| 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. |
Top |
Fusion Protein Features for ACVR1B-CS |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52380726/:56680429) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVR1B | CS |
| FUNCTION: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. {ECO:0000269|PubMed:12364468, ECO:0000269|PubMed:12639945, ECO:0000269|PubMed:18039968, ECO:0000269|PubMed:20226172, ECO:0000269|PubMed:8196624, ECO:0000269|PubMed:9032295, ECO:0000269|PubMed:9892009}. |
| 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 |
Fusion Gene Sequence for ACVR1B-CS |
| 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. |
Top |
Fusion Gene PPI Analysis for ACVR1B-CS |
| 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 |
Top |
Related Drugs for ACVR1B-CS |
| 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 |
Top |
Related Diseases for ACVR1B-CS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies