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Kinase Fusion Gene:CASK_ABCB4 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: CASK_ABCB4 | KinaseFusionDB ID: KFG921 | FusionGDB2.0 ID: KFG921 | Hgene | Tgene | Gene symbol | CASK | ABCB4 | Gene ID | 8573 | 5244 | |
| Gene name | calcium/calmodulin dependent serine protein kinase | ATP binding cassette subfamily B member 4 | ||||||||||
| Synonyms | CAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASK | ABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3 | ||||||||||
| Cytomap | Xp11.4 | 7q21.12 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | peripheral plasma membrane protein CASKcalcium/calmodulin-dependent serin protein kinasecalcium/calmodulin-dependent serine protein kinase (MAGUK family)calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinaseprotein lin | phosphatidylcholine translocator ABCB4ATP-binding cassette sub-family B member 4ATP-binding cassette, sub-family B (MDR/TAP), member 4P-glycoprotein 3P-glycoprotein-3/multiple drug resistance-3multidrug resistance protein 3multiple drug resistance 3 | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | P07498 | P21439 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000318588, ENST00000361962, ENST00000378154, ENST00000378158, ENST00000378163, ENST00000378166, ENST00000421587, ENST00000442742, ENST00000472704, | ENST00000265723, ENST00000358400, ENST00000359206, ENST00000453593, ENST00000545634, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: CASK [Title/Abstract] AND ABCB4 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CASK(41782183)-ABCB4(87104787), # samples:1 CASK(41782183)-ABCB4(87092224), # samples:1 | |||||||||||
| 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 | CASK | GO:0010839 | negative regulation of keratinocyte proliferation | 18664494 |
| Tgene | ABCB4 | GO:0032376 | positive regulation of cholesterol transport | 17523162 |
| Tgene | ABCB4 | GO:0045332 | phospholipid translocation | 8898203 |
| Tgene | ABCB4 | GO:0055088 | lipid homeostasis | 17523162 |
| Tgene | ABCB4 | GO:0061092 | positive regulation of phospholipid translocation | 17523162 |
| Tgene | ABCB4 | GO:0099040 | ceramide translocation | 8898203 |
| Tgene | ABCB4 | GO:1903413 | cellular response to bile acid | 17523162 |
| Tgene | ABCB4 | GO:2001140 | positive regulation of phospholipid transport | 8898203 |
| Kinase Fusion gene breakpoints across CASK (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Kinase Fusion gene breakpoints across ABCB4 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-CD-5799-01A | CASK | chrX | 41782183 | ABCB4 | chr7 | 87104787 |
| ChimerDB4 | TCGA-CD-5799-01A | CASK | chrX | 41782183 | ABCB4 | chr7 | 87092224 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:41782183/chr7:87104787) - 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 |
| CASK | ABCB4 |
| FUNCTION: Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk. | FUNCTION: [Isoform 1]: Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:7957936, PubMed:8898203, PubMed:9366571, PubMed:17523162, PubMed:23468132, PubMed:24806754, PubMed:24723470, PubMed:24594635, PubMed:21820390, PubMed:31873305). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to further enrichment of SM and cholesterol in raft membranes in hepatocytes (PubMed:23468132). Required for proper phospholipid bile formation (By similarity). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:24045840). Promotes biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571, PubMed:28012258). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (By similarity). {ECO:0000250|UniProtKB:P21440, ECO:0000269|PubMed:17523162, ECO:0000269|PubMed:21820390, ECO:0000269|PubMed:23468132, ECO:0000269|PubMed:24045840, ECO:0000269|PubMed:24594635, ECO:0000269|PubMed:24723470, ECO:0000269|PubMed:24806754, ECO:0000269|PubMed:28012258, ECO:0000269|PubMed:31873305, ECO:0000269|PubMed:7957936, ECO:0000269|PubMed:8898203, ECO:0000269|PubMed:9366571}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of CASK_ABCB4 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| CASK | O14936 | human | CASK | O14936 | S151 | PHCVLLAsKENsAPV | Pkinase |
| CASK | O14936 | human | NRXN1 | P58400-1 | S425 | VKEKQPssAKsSNKN | Syndecan |
| CASK | O14936 | human | NRXN1 | P58400-1 | S424 | VVKEKQPssAKsSNK | Syndecan |
| CASK | O14936 | human | CASK | O14936 | S155 | LLAsKENsAPVKLGG | Pkinase |
| CASK | O14936 | human | NRXN1 | P58400-1 | S428 | KQPssAKsSNKNKKN | Syndecan |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| CASK | ID | Description | 0.00e+00 |
| CASK | GO:0007269 | neurotransmitter secretion | 3.41e-03 |
| CASK | GO:0099643 | signal release from synapse | 3.41e-03 |
| CASK | GO:0001505 | regulation of neurotransmitter levels | 3.53e-03 |
| CASK | GO:0006836 | neurotransmitter transport | 3.53e-03 |
| CASK | GO:0023061 | signal release | 1.13e-02 |
| CASK | GO:0050804 | modulation of chemical synaptic transmission | 1.13e-02 |
| CASK | GO:0099177 | regulation of trans-synaptic signaling | 1.13e-02 |
| CASK | GO:0097104 | postsynaptic membrane assembly | 1.36e-02 |
| CASK | GO:0098598 | learned vocalization behavior or vocal learning | 1.36e-02 |
| CASK | GO:0046710 | GDP metabolic process | 1.36e-02 |
| CASK | GO:0031223 | auditory behavior | 1.36e-02 |
| CASK | GO:0007638 | mechanosensory behavior | 1.38e-02 |
| CASK | GO:0090280 | positive regulation of calcium ion import | 1.38e-02 |
| CASK | GO:0007158 | neuron cell-cell adhesion | 1.38e-02 |
| CASK | GO:0071625 | vocalization behavior | 1.38e-02 |
| CASK | GO:0009135 | purine nucleoside diphosphate metabolic process | 1.38e-02 |
| CASK | GO:0009179 | purine ribonucleoside diphosphate metabolic process | 1.38e-02 |
| CASK | GO:0090128 | regulation of synapse maturation | 1.38e-02 |
| CASK | GO:0097107 | postsynaptic density assembly | 1.38e-02 |
| CASK | GO:0010839 | negative regulation of keratinocyte proliferation | 1.43e-02 |
| CASK | GO:0046037 | GMP metabolic process | 1.43e-02 |
| CASK | GO:0098698 | postsynaptic specialization assembly | 1.43e-02 |
| CASK | GO:0009185 | ribonucleoside diphosphate metabolic process | 1.43e-02 |
| CASK | GO:0010996 | response to auditory stimulus | 1.43e-02 |
| CASK | GO:1904861 | excitatory synapse assembly | 1.43e-02 |
| CASK | GO:2000463 | positive regulation of excitatory postsynaptic potential | 1.43e-02 |
| CASK | GO:0090279 | regulation of calcium ion import | 1.43e-02 |
| CASK | GO:0060074 | synapse maturation | 1.43e-02 |
| CASK | GO:0051968 | positive regulation of synaptic transmissio | 3.71e-03 |
| CASK | GO:0097106 | postsynaptic density organization | 1.43e-02 |
| CASK | GO:0001941 | postsynaptic membrane organization | 1.43e-02 |
| CASK | GO:0099068 | postsynapse assembly | 1.43e-02 |
| CASK | GO:0001953 | negative regulation of cell-matrix adhesion | 1.43e-02 |
| CASK | GO:0009167 | purine ribonucleoside monophosphate metabolic process | 1.43e-02 |
| CASK | GO:0009126 | purine nucleoside monophosphate metabolic process | 1.45e-02 |
| CASK | GO:0099084 | postsynaptic specialization organization | 1.45e-02 |
| CASK | GO:2000300 | regulation of synaptic vesicle exocytosis | 1.45e-02 |
| CASK | GO:0010837 | regulation of keratinocyte proliferation | 1.49e-02 |
| CASK | GO:0070509 | calcium ion import | 1.49e-02 |
| CASK | GO:0098815 | modulation of excitatory postsynaptic potential | 1.49e-02 |
| CASK | GO:0050885 | neuromuscular process controlling balance | 1.51e-02 |
| CASK | GO:0035176 | social behavior | 1.51e-02 |
| CASK | GO:0051703 | biological process involved in intraspecies interaction between organisms | 1.53e-02 |
| CASK | GO:0043113 | receptor clustering | 1.56e-02 |
| CASK | GO:0009161 | ribonucleoside monophosphate metabolic process | 1.56e-02 |
| CASK | GO:0043616 | keratinocyte proliferation | 1.56e-02 |
| CASK | GO:0071709 | membrane assembly | 1.56e-02 |
| CASK | GO:0051965 | positive regulation of synapse assembly | 1.59e-02 |
| CASK | GO:0044091 | membrane biogenesis | 1.59e-02 |
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Related Drugs to CASK_ABCB4 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning CASK-ABCB4 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to CASK_ABCB4 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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