|
||||||
|
 | 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:KCNA1-GALNT3 (FusionGDB2 ID:HG3736TG2591) |
Fusion Gene Summary for KCNA1-GALNT3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNA1-GALNT3 | Fusion gene ID: hg3736tg2591 | Hgene | Tgene | Gene symbol | KCNA1 | GALNT3 | Gene ID | 3736 | 2591 |
| Gene name | potassium voltage-gated channel subfamily A member 1 | polypeptide N-acetylgalactosaminyltransferase 3 | |
| Synonyms | AEMK|EA1|HBK1|HUK1|KV1.1|MBK1|MK1|RBK1 | GalNAc-T3|HFTC|HFTC1|HHS | |
| Cytomap | ('KCNA1')('GALNT3') 12p13.32 | 2q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | potassium voltage-gated channel subfamily A member 1potassium channel, voltage gated shaker related subfamily A, member 1potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)voltage-gated K(+) channel HuKI | polypeptide N-acetylgalactosaminyltransferase 3GalNAc transferase 3UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)polypeptide GalNAc transferase 3 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q09470 | Q14435 | |
| Ensembl transtripts involved in fusion gene | ENST00000382545, ENST00000543874, | ||
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 3 X 3 X 2=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KCNA1 [Title/Abstract] AND GALNT3 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KCNA1(5031418)-GALNT3(166604685), # 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 |
| Tgene | GALNT3 | GO:0018242 | protein O-linked glycosylation via serine | 9295285 |
| Tgene | GALNT3 | GO:0018243 | protein O-linked glycosylation via threonine | 9295285|16638743 |
| 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 |
| ChiTaRS5.0 | N/A | AX260576 | KCNA1 | chr12 | 5031418 | + | GALNT3 | chr2 | 166604685 | - |
Top |
Fusion Gene ORF analysis for KCNA1-GALNT3 |
| 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 |
| intron-3UTR | ENST00000382545 | ENST00000392701 | KCNA1 | chr12 | 5031418 | + | GALNT3 | chr2 | 166604685 | - |
| intron-3UTR | ENST00000382545 | ENST00000409882 | KCNA1 | chr12 | 5031418 | + | GALNT3 | chr2 | 166604685 | - |
| intron-3UTR | ENST00000543874 | ENST00000392701 | KCNA1 | chr12 | 5031418 | + | GALNT3 | chr2 | 166604685 | - |
| intron-3UTR | ENST00000543874 | ENST00000409882 | KCNA1 | chr12 | 5031418 | + | GALNT3 | chr2 | 166604685 | - |
| 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 KCNA1-GALNT3 |
| 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) |
Top |
Fusion Protein Features for KCNA1-GALNT3 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:5031418/:166604685) - 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 |
| KCNA1 | GALNT3 |
| FUNCTION: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the kidney (PubMed:19903818). Contributes to the regulation of the membrane potential and nerve signaling, and prevents neuronal hyperexcitability (PubMed:17156368). Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:19912772). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:12077175, PubMed:17156368). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels (PubMed:12077175, PubMed:17156368). In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA1 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:19968958, PubMed:19307729, PubMed:19903818). In contrast, a heterotetrameric channel formed by KCNA1 and KCNA4 shows rapid inactivation (PubMed:17156368). Regulates neuronal excitability in hippocampus, especially in mossy fibers and medial perforant path axons, preventing neuronal hyperexcitability. Response to toxins that are selective for KCNA1, respectively for KCNA2, suggests that heteromeric potassium channels composed of both KCNA1 and KCNA2 play a role in pacemaking and regulate the output of deep cerebellar nuclear neurons (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) release (By similarity). Plays a role in regulating the generation of action potentials and preventing hyperexcitability in myelinated axons of the vagus nerve, and thereby contributes to the regulation of heart contraction (By similarity). Required for normal neuromuscular responses (PubMed:11026449, PubMed:17136396). Regulates the frequency of neuronal action potential firing in response to mechanical stimuli, and plays a role in the perception of pain caused by mechanical stimuli, but does not play a role in the perception of pain due to heat stimuli (By similarity). Required for normal responses to auditory stimuli and precise location of sound sources, but not for sound perception (By similarity). The use of toxins that block specific channels suggest that it contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Required for normal postnatal brain development and normal proliferation of neuronal precursor cells in the brain (By similarity). Plays a role in the reabsorption of Mg(2+) in the distal convoluted tubules in the kidney and in magnesium ion homeostasis, probably via its effect on the membrane potential (PubMed:23903368, PubMed:19307729). {ECO:0000250|UniProtKB:P10499, ECO:0000269|PubMed:11026449, ECO:0000269|PubMed:12077175, ECO:0000269|PubMed:15837928, ECO:0000269|PubMed:17136396, ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:19307729, ECO:0000269|PubMed:19903818, ECO:0000269|PubMed:19912772, ECO:0000269|PubMed:19968958, ECO:0000269|PubMed:21106501, ECO:0000269|PubMed:23903368}. | FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis. {ECO:0000269|PubMed:16638743, ECO:0000269|PubMed:9295285}. |
| 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 KCNA1-GALNT3 |
| 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 KCNA1-GALNT3 |
| 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 KCNA1-GALNT3 |
| 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 |
| Hgene | KCNA1 | Q09470 | DB00321 | Amitriptyline | Inhibitor | Small molecule | Approved |
| Hgene | KCNA1 | Q09470 | DB01189 | Desflurane | Inducer | Small molecule | Approved |
| Hgene | KCNA1 | Q09470 | DB06637 | Dalfampridine | Antagonist | Small molecule | Approved |
| Hgene | KCNA1 | Q09470 | DB11640 | Amifampridine | Blocker | Small molecule | Approved|Investigational |
| Hgene | KCNA1 | Q09470 | DB01028 | Methoxyflurane | Inducer | Small molecule | Approved|Investigational|Vet_approved |
| Hgene | KCNA1 | Q09470 | DB00753 | Isoflurane | Inducer | Small molecule | Approved|Vet_approved |
Top |
Related Diseases for KCNA1-GALNT3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNA1 | C1719788 | Episodic ataxia type 1 | 17 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | KCNA1 | C0393706 | Early infantile epileptic encephalopathy with suppression bursts | 1 | ORPHANET |
| Hgene | KCNA1 | C0684219 | Myokymia | 1 | GENOMICS_ENGLAND |
| Hgene | KCNA1 | C1720189 | Episodic Ataxia | 1 | GENOMICS_ENGLAND |
| Hgene | KCNA1 | C1834559 | Continuous Muscle Fiber Activity, Hereditary | 1 | ORPHANET |
| Hgene | KCNA1 | C1868682 | Paroxysmal kinesigenic choreoathetosis | 1 | ORPHANET |
| Tgene | C4692564 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 | 3 | GENOMICS_ENGLAND;ORPHANET | |
| Tgene | C1876187 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | 2 | CTD_human;ORPHANET | |
| Tgene | C0006663 | Calcinosis | 1 | CTD_human | |
| Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
| Tgene | C0085681 | Hyperphosphatemia (disorder) | 1 | CTD_human | |
| Tgene | C0263628 | Tumoral calcinosis | 1 | CTD_human | |
| Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
| Tgene | C0521174 | Microcalcification | 1 | CTD_human |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies