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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:KCNMA1-SERTAD1 (FusionGDB2 ID:41307) |
Fusion Gene Summary for KCNMA1-SERTAD1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: KCNMA1-SERTAD1 | Fusion gene ID: 41307 | Hgene | Tgene | Gene symbol | KCNMA1 | SERTAD1 | Gene ID | 3778 | 29950 |
Gene name | potassium calcium-activated channel subfamily M alpha 1 | SERTA domain containing 1 | |
Synonyms | BKTM|CADEDS|IEG16|KCa1.1|LIWAS|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1 | SEI1|TRIP-Br1|TRIPBR1 | |
Cytomap | 10q22.3 | 19q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | calcium-activated potassium channel subunit alpha-1uncharacterized proteinBK channel alpha subunitBKCA alpha subunitbig potassium channel alpha subunitcalcium-activated potassium channel, subfamily M subunit alpha-1k(VCA)alphamaxi-K channel HSLOpo | SERTA domain-containing protein 1CDK4-binding protein p34SEICDK4-binding protein p34SEI1SEI-1p34(SEI-1)transcriptional regulator interacting with the PHD-bromodomain 1 | |
Modification date | 20200315 | 20200313 | |
UniProtAcc | Q12791 | . | |
Ensembl transtripts involved in fusion gene | ENST00000404771, ENST00000372440, ENST00000372443, ENST00000286628, ENST00000286627, ENST00000354353, ENST00000404857, ENST00000406533, ENST00000484507, ENST00000481070, ENST00000480683, | ENST00000357949, | |
Fusion gene scores | * DoF score | 20 X 17 X 10=3400 | 4 X 2 X 4=32 |
# samples | 25 | 5 | |
** MAII score | log2(25/3400*10)=-3.76553474636298 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: KCNMA1 [Title/Abstract] AND SERTAD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | KCNMA1(79397023)-SERTAD1(40929453), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | KCNMA1-SERTAD1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* 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 | KCNMA1 | GO:0001666 | response to hypoxia | 15528406 |
Hgene | KCNMA1 | GO:0006813 | potassium ion transport | 7573516|7877450|11245614|12388065|17706472|18458941 |
Hgene | KCNMA1 | GO:0006970 | response to osmotic stress | 10840032|12388065 |
Hgene | KCNMA1 | GO:0030007 | cellular potassium ion homeostasis | 11245614 |
Hgene | KCNMA1 | GO:0034465 | response to carbon monoxide | 15528406 |
Hgene | KCNMA1 | GO:0042391 | regulation of membrane potential | 7877450|7993625 |
Hgene | KCNMA1 | GO:0045794 | negative regulation of cell volume | 12388065 |
Hgene | KCNMA1 | GO:0051592 | response to calcium ion | 12388065|18458941 |
Hgene | KCNMA1 | GO:0060073 | micturition | 11641143 |
Hgene | KCNMA1 | GO:0060083 | smooth muscle contraction involved in micturition | 11641143 |
Fusion gene breakpoints across KCNMA1 (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 SERTAD1 (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 | ACC | TCGA-OR-A5K5-01A | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
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Fusion Gene ORF analysis for KCNMA1-SERTAD1 |
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 |
Frame-shift | ENST00000404771 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000372440 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000372443 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000286628 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000286627 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000354353 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000404857 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000406533 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
intron-3CDS | ENST00000484507 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000481070 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
Frame-shift | ENST00000480683 | ENST00000357949 | KCNMA1 | chr10 | 79397023 | - | SERTAD1 | chr19 | 40929453 | - |
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 KCNMA1-SERTAD1 |
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 KCNMA1-SERTAD1 |
Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
KCNMA1 | . |
FUNCTION: Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX). {ECO:0000269|PubMed:29330545, ECO:0000269|PubMed:31152168}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
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 KCNMA1-SERTAD1 |
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 KCNMA1-SERTAD1 |
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 KCNMA1-SERTAD1 |
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 | KCNMA1 | Q12791 | DB00356 | Chlorzoxazone | Small molecule | Approved | |
Hgene | KCNMA1 | Q12791 | DB00356 | Chlorzoxazone | Small molecule | Approved | |
Hgene | KCNMA1 | Q12791 | DB00356 | Chlorzoxazone | Small molecule | Approved | |
Hgene | KCNMA1 | Q12791 | DB00436 | Bendroflumethiazide | Inducer | Small molecule | Approved |
Hgene | KCNMA1 | Q12791 | DB00436 | Bendroflumethiazide | Inducer | Small molecule | Approved |
Hgene | KCNMA1 | Q12791 | DB00436 | Bendroflumethiazide | Inducer | Small molecule | Approved |
Hgene | KCNMA1 | Q12791 | DB01119 | Diazoxide | Other | Small molecule | Approved |
Hgene | KCNMA1 | Q12791 | DB01119 | Diazoxide | Other | Small molecule | Approved |
Hgene | KCNMA1 | Q12791 | DB01119 | Diazoxide | Other | Small molecule | Approved |
Hgene | KCNMA1 | Q12791 | DB04209 | Dequalinium | Inhibitor | Small molecule | Approved|Investigational |
Hgene | KCNMA1 | Q12791 | DB04209 | Dequalinium | Inhibitor | Small molecule | Approved|Investigational |
Hgene | KCNMA1 | Q12791 | DB04209 | Dequalinium | Inhibitor | Small molecule | Approved|Investigational |
Hgene | KCNMA1 | Q12791 | DB00774 | Hydroflumethiazide | Inducer | Small molecule | Approved|Investigational|Withdrawn |
Hgene | KCNMA1 | Q12791 | DB00774 | Hydroflumethiazide | Inducer | Small molecule | Approved|Investigational|Withdrawn |
Hgene | KCNMA1 | Q12791 | DB00774 | Hydroflumethiazide | Inducer | Small molecule | Approved|Investigational|Withdrawn |
Hgene | KCNMA1 | Q12791 | DB00999 | Hydrochlorothiazide | Inhibitor | Small molecule | Approved|Vet_approved |
Hgene | KCNMA1 | Q12791 | DB00999 | Hydrochlorothiazide | Inhibitor | Small molecule | Approved|Vet_approved |
Hgene | KCNMA1 | Q12791 | DB00999 | Hydrochlorothiazide | Inhibitor | Small molecule | Approved|Vet_approved |
Hgene | KCNMA1 | Q12791 | DB01159 | Halothane | Inhibitor | Small molecule | Approved|Vet_approved |
Hgene | KCNMA1 | Q12791 | DB01159 | Halothane | Inhibitor | Small molecule | Approved|Vet_approved |
Hgene | KCNMA1 | Q12791 | DB01159 | Halothane | Inhibitor | Small molecule | Approved|Vet_approved |
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Related Diseases for KCNMA1-SERTAD1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KCNMA1 | C1836173 | Generalized Epilepsy and Paroxysmal Dyskinesia | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | KCNMA1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | KCNMA1 | C0005944 | Metabolic Bone Disorder | 1 | CTD_human |
Hgene | KCNMA1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | KCNMA1 | C0018273 | Growth Disorders | 1 | CTD_human |
Hgene | KCNMA1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
Hgene | KCNMA1 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Hgene | KCNMA1 | C0028754 | Obesity | 1 | CTD_human |
Hgene | KCNMA1 | C0028756 | Obesity, Morbid | 1 | CTD_human |
Hgene | KCNMA1 | C0029453 | Osteopenia | 1 | CTD_human |
Hgene | KCNMA1 | C0038220 | Status Epilepticus | 1 | CTD_human |
Hgene | KCNMA1 | C0043094 | Weight Gain | 1 | CTD_human |
Hgene | KCNMA1 | C0270823 | Petit mal status | 1 | CTD_human |
Hgene | KCNMA1 | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Hgene | KCNMA1 | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
Hgene | KCNMA1 | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
Hgene | KCNMA1 | C0410916 | Neonatal Death | 1 | CTD_human |
Hgene | KCNMA1 | C0701826 | Perinatal death | 1 | CTD_human |
Hgene | KCNMA1 | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
Hgene | KCNMA1 | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
Hgene | KCNMA1 | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
Hgene | KCNMA1 | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Hgene | KCNMA1 | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Hgene | KCNMA1 | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Hgene | KCNMA1 | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
Hgene | KCNMA1 | C4539985 | CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | 1 | GENOMICS_ENGLAND |
Tgene | SERTAD1 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Tgene | SERTAD1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | SERTAD1 | C0525045 | Mood Disorders | 1 | PSYGENET |