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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:CALM3-CHRNA4 (FusionGDB2 ID:HG808TG1137) |
Fusion Gene Summary for CALM3-CHRNA4 |
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Fusion gene information | Fusion gene name: CALM3-CHRNA4 | Fusion gene ID: hg808tg1137 | Hgene | Tgene | Gene symbol | CALM3 | CHRNA4 | Gene ID | 808 | 1137 |
Gene name | calmodulin 3 | cholinergic receptor nicotinic alpha 4 subunit | |
Synonyms | CALM|CAM1|CAM2|CAMB|CPVT6|CaM|CaMIII|HEL-S-72|LQT16|PHKD|PHKD3 | BFNC|EBN|EBN1|NACHR|NACHRA4|NACRA4 | |
Cytomap | ('CALM3')('CHRNA4') 19q13.32 | 20q13.33 | |
Type of gene | protein-coding | protein-coding | |
Description | calmodulin-3Calmodulin-1Calmodulin-2epididymis secretory protein Li 72phosphorylase kinase subunit deltaprepro-calmodulin 3 | neuronal acetylcholine receptor subunit alpha-4cholinergic receptor, nicotinic alpha 4cholinergic receptor, nicotinic, alpha 4 (neuronal)cholinergic receptor, nicotinic, alpha polypeptide 4neuronal nicotinic acetylcholine receptor alpha-4 subunit | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000477244, ENST00000291295, ENST00000597743, ENST00000594523, ENST00000598871, ENST00000391918, ENST00000596362, ENST00000599839, | ||
Fusion gene scores | * DoF score | 11 X 9 X 7=693 | 1 X 1 X 1=1 |
# samples | 13 | 1 | |
** MAII score | log2(13/693*10)=-2.41434372910876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: CALM3 [Title/Abstract] AND CHRNA4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CALM3(47104694)-CHRNA4(61975738), # samples:2 | ||
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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CALM3 | GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 20226167 |
Hgene | CALM3 | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 8631777 |
Hgene | CALM3 | GO:0035307 | positive regulation of protein dephosphorylation | 8631777 |
Hgene | CALM3 | GO:0051343 | positive regulation of cyclic-nucleotide phosphodiesterase activity | 8631777 |
Hgene | CALM3 | GO:0051592 | response to calcium ion | 7607248 |
Hgene | CALM3 | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity | 20226167 |
Tgene | CHRNA4 | GO:0001666 | response to hypoxia | 12189247 |
Tgene | CHRNA4 | GO:0007165 | signal transduction | 8906617 |
Tgene | CHRNA4 | GO:0035094 | response to nicotine | 12189247 |
![]() * 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 | SKCM | TCGA-FS-A1ZD-06A | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
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Fusion Gene ORF analysis for CALM3-CHRNA4 |
![]() * 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 |
3UTR-3UTR | ENST00000477244 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
3UTR-5UTR | ENST00000477244 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5CDS-3UTR | ENST00000291295 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5CDS-3UTR | ENST00000597743 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5CDS-5UTR | ENST00000291295 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5CDS-5UTR | ENST00000597743 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5UTR-3UTR | ENST00000594523 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5UTR-3UTR | ENST00000598871 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5UTR-5UTR | ENST00000594523 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
5UTR-5UTR | ENST00000598871 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
intron-3UTR | ENST00000391918 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
intron-3UTR | ENST00000596362 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
intron-3UTR | ENST00000599839 | ENST00000370263 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
intron-5UTR | ENST00000391918 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
intron-5UTR | ENST00000596362 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
intron-5UTR | ENST00000599839 | ENST00000463705 | CALM3 | chr19 | 47104694 | + | CHRNA4 | chr20 | 61975738 | - |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CALM3-CHRNA4 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CALM3-CHRNA4 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:47104694/:61975738) - 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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Hgene | Tgene |
. | . |
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: 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}. |
![]() * 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 CALM3-CHRNA4 |
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Fusion Gene PPI Analysis for CALM3-CHRNA4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CALM3-CHRNA4 |
![]() (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 CALM3-CHRNA4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0001973 | Alcoholic Intoxication, Chronic | 4 | PSYGENET | |
Tgene | C0036341 | Schizophrenia | 4 | PSYGENET | |
Tgene | C1838049 | Epilepsy, Nocturnal Frontal Lobe, Type 1 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0011570 | Mental Depression | 3 | PSYGENET | |
Tgene | C0011581 | Depressive disorder | 3 | PSYGENET | |
Tgene | C0085541 | Epilepsy, Frontal Lobe | 3 | CTD_human | |
Tgene | C0344315 | Depressed mood | 3 | PSYGENET | |
Tgene | C0393671 | Frontal Epilepsy, Benign, Childhood | 3 | CTD_human | |
Tgene | C0393683 | Epilepsy, Supplementary Motor | 3 | CTD_human | |
Tgene | C0393684 | Epilepsy, Cingulate | 3 | CTD_human | |
Tgene | C0393688 | Epilepsy, Opercular | 3 | CTD_human | |
Tgene | C0751642 | Epilepsy, Anterior Fronto-Polar | 3 | CTD_human | |
Tgene | C0751643 | Epilepsy, Orbito-Frontal | 3 | CTD_human | |
Tgene | C0022333 | Jacksonian Seizure | 2 | CTD_human | |
Tgene | C0036572 | Seizures | 2 | CTD_human | |
Tgene | C0149958 | Complex partial seizures | 2 | CTD_human | |
Tgene | C0234533 | Generalized seizures | 2 | CTD_human | |
Tgene | C0234535 | Clonic Seizures | 2 | CTD_human | |
Tgene | C0270824 | Visual seizure | 2 | CTD_human | |
Tgene | C0270844 | Tonic Seizures | 2 | CTD_human | |
Tgene | C0270846 | Epileptic drop attack | 2 | CTD_human | |
Tgene | C0422850 | Seizures, Somatosensory | 2 | CTD_human | |
Tgene | C0422852 | Seizures, Auditory | 2 | CTD_human | |
Tgene | C0422853 | Olfactory seizure | 2 | CTD_human | |
Tgene | C0422854 | Gustatory seizure | 2 | CTD_human | |
Tgene | C0422855 | Vertiginous seizure | 2 | CTD_human | |
Tgene | C0494475 | Tonic - clonic seizures | 2 | CTD_human | |
Tgene | C0751056 | Non-epileptic convulsion | 2 | CTD_human | |
Tgene | C0751110 | Single Seizure | 2 | CTD_human | |
Tgene | C0751123 | Atonic Absence Seizures | 2 | CTD_human | |
Tgene | C0751494 | Convulsive Seizures | 2 | CTD_human | |
Tgene | C0751495 | Seizures, Focal | 2 | CTD_human | |
Tgene | C0751496 | Seizures, Sensory | 2 | CTD_human | |
Tgene | C3495874 | Nonepileptic Seizures | 2 | CTD_human | |
Tgene | C4048158 | Convulsions | 2 | CTD_human | |
Tgene | C4316903 | Absence Seizures | 2 | CTD_human | |
Tgene | C4317109 | Epileptic Seizures | 2 | CTD_human | |
Tgene | C4317123 | Myoclonic Seizures | 2 | CTD_human | |
Tgene | C4505436 | Generalized Absence Seizures | 2 | CTD_human | |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human | |
Tgene | C0008073 | Developmental Disabilities | 1 | CTD_human | |
Tgene | C0009171 | Cocaine Abuse | 1 | PSYGENET | |
Tgene | C0013421 | Dystonia | 1 | CTD_human | |
Tgene | C0021368 | Inflammation | 1 | CTD_human | |
Tgene | C0027765 | nervous system disorder | 1 | CTD_human | |
Tgene | C0041671 | Attention Deficit Disorder | 1 | CTD_human | |
Tgene | C0085996 | Child Development Deviations | 1 | CTD_human | |
Tgene | C0085997 | Child Development Disorders, Specific | 1 | CTD_human | |
Tgene | C0393588 | Dystonia, Paroxysmal | 1 | CTD_human | |
Tgene | C0393610 | Dystonia, Diurnal | 1 | CTD_human | |
Tgene | C0751093 | Dystonia, Limb | 1 | CTD_human | |
Tgene | C0751508 | Long Sleeper Syndrome | 1 | CTD_human | |
Tgene | C0751509 | Short Sleeper Syndrome | 1 | CTD_human | |
Tgene | C0751510 | Sleep-Related Neurogenic Tachypnea | 1 | CTD_human | |
Tgene | C0751511 | Subwakefullness Syndrome | 1 | CTD_human | |
Tgene | C0851578 | Sleep Disorders | 1 | CTD_human | |
Tgene | C1263846 | Attention deficit hyperactivity disorder | 1 | CTD_human | |
Tgene | C1321905 | Minimal Brain Dysfunction | 1 | CTD_human | |
Tgene | C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | 1 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C3696898 | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy | 1 | ORPHANET | |
Tgene | C4042891 | Sleep Wake Disorders | 1 | CTD_human |