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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:CABLES1-HLA-DQA1 (FusionGDB2 ID:HG91768TG3117) |
Fusion Gene Summary for CABLES1-HLA-DQA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CABLES1-HLA-DQA1 | Fusion gene ID: hg91768tg3117 | Hgene | Tgene | Gene symbol | CABLES1 | HLA-DQA1 | Gene ID | 91768 | 3117 |
| Gene name | Cdk5 and Abl enzyme substrate 1 | major histocompatibility complex, class II, DQ alpha 1 | |
| Synonyms | CABL1|CABLES|HsT2563|IK3-1 | CELIAC1|DQ-A1|DQA1|HLA-DQA | |
| Cytomap | ('CABLES1')('HLA-DQA1') 18q11.2 | 6p21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CDK5 and ABL1 enzyme substrate 1interactor with CDK3 1 | HLA class II histocompatibility antigen, DQ alpha 1 chainDC-1 alpha chainDC-alphaHLA-DCAMHC HLA-DQ alphaMHC class II DQ alpha chainMHC class II DQA1MHC class II HLA-DQ-alpha-1MHC class II antigen DQA1truncated MHC class II antigen | |
| Modification date | 20200313 | 20200323 | |
| UniProtAcc | . | P01909 | |
| Ensembl transtripts involved in fusion gene | ENST00000256925, ENST00000400473, ENST00000420687, ENST00000585061, | ||
| Fusion gene scores | * DoF score | 16 X 13 X 3=624 | 3 X 2 X 1=6 |
| # samples | 21 | 3 | |
| ** MAII score | log2(21/624*10)=-1.57115670119613 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/6*10)=2.32192809488736 | |
| Context | PubMed: CABLES1 [Title/Abstract] AND HLA-DQA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CABLES1(20823550)-HLA-DQA1(32611038), # 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 |
| Fusion gene information * 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 |
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Fusion Gene ORF analysis for CABLES1-HLA-DQA1 |
| 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 |
| 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 CABLES1-HLA-DQA1 |
| 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) |
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Fusion Protein Features for CABLES1-HLA-DQA1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:20823550/:32611038) - 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 |
| . | HLA-DQA1 |
| 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: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. |
| 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 CABLES1-HLA-DQA1 |
| 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 CABLES1-HLA-DQA1 |
| 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 CABLES1-HLA-DQA1 |
| 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 CABLES1-HLA-DQA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CABLES1 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
| Hgene | CABLES1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | C0004096 | Asthma | 1 | CTD_human | |
| Tgene | C0011603 | Dermatitis | 1 | CTD_human | |
| Tgene | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human | |
| Tgene | C0014848 | Esophageal Achalasia | 1 | CTD_human;ORPHANET | |
| Tgene | C0017665 | Membranous glomerulonephritis | 1 | CTD_human | |
| Tgene | C0020517 | Hypersensitivity | 1 | CTD_human | |
| Tgene | C0023290 | Leishmaniasis, Visceral | 1 | CTD_human | |
| Tgene | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human | |
| Tgene | C0025164 | Megaesophagus | 1 | CTD_human | |
| Tgene | C0029295 | Oropharyngeal Neoplasms | 1 | CTD_human | |
| Tgene | C0030305 | Pancreatitis | 1 | CTD_human | |
| Tgene | C0033687 | Proteinuria | 1 | CTD_human | |
| Tgene | C0085179 | Eosinophilia-Myalgia Syndrome | 1 | CTD_human | |
| Tgene | C0086445 | Idiopathic Membranous Glomerulonephritis | 1 | CTD_human | |
| Tgene | C0205734 | Diabetes, Autoimmune | 1 | CTD_human | |
| Tgene | C0242380 | Libman-Sacks Disease | 1 | CTD_human | |
| Tgene | C0342302 | Brittle diabetes | 1 | CTD_human | |
| Tgene | C0751622 | Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related | 1 | CTD_human | |
| Tgene | C0859976 | Idiopathic achalasia of esophagus | 1 | ORPHANET | |
| Tgene | C1527304 | Allergic Reaction | 1 | CTD_human | |
| Tgene | C1704378 | Heymann Nephritis | 1 | CTD_human | |
| Tgene | C2349952 | Oropharyngeal Carcinoma | 1 | CTD_human | |
| Tgene | C2936833 | Mycobacterium tuberculosis, susceptibility to infection by | 1 | CTD_human | |
| Tgene | C3837958 | Diabetes Mellitus, Ketosis-Prone | 1 | CTD_human | |
| Tgene | C4554117 | Diabetes Mellitus, Sudden-Onset | 1 | CTD_human |
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