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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:CACNA1B-CALR (FusionGDB2 ID:HG774TG811) |
Fusion Gene Summary for CACNA1B-CALR |
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Fusion gene information | Fusion gene name: CACNA1B-CALR | Fusion gene ID: hg774tg811 | Hgene | Tgene | Gene symbol | CACNA1B | CALR | Gene ID | 774 | 811 |
Gene name | calcium voltage-gated channel subunit alpha1 B | calreticulin | |
Synonyms | BIII|CACNL1A5|CACNN|Cav2.2|DYT23|NEDNEH | CRT|HEL-S-99n|RO|SSA|cC1qR | |
Cytomap | ('CACNA1B')('CALR') 9q34.3 | 19p13.13 | |
Type of gene | protein-coding | protein-coding | |
Description | voltage-dependent N-type calcium channel subunit alpha-1BCav2.2 voltage-gated Ca2+ channelbrain calcium channel IIIcalcium channel alpha12.2 subunitcalcium channel, L type, alpha-1 polypeptidecalcium channel, voltage-dependent, L type, alpha 1B subun | calreticulinCRP55ERp60HACBPSicca syndrome antigen A (autoantigen Ro; calreticulin)calregulinendoplasmic reticulum resident protein 60epididymis secretory sperm binding protein Li 99ngrp60 | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000277549, ENST00000277550, ENST00000277551, ENST00000371355, ENST00000371357, ENST00000371363, ENST00000371365, ENST00000371367, ENST00000371372, ENST00000545473, | ||
Fusion gene scores | * DoF score | 5 X 5 X 1=25 | 24 X 30 X 7=5040 |
# samples | 5 | 38 | |
** MAII score | log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(38/5040*10)=-3.72935241005633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CACNA1B [Title/Abstract] AND CALR [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CACNA1B(140787680)-CALR(13055303), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CACNA1B | GO:0050804 | modulation of chemical synaptic transmission | 23376566 |
Hgene | CACNA1B | GO:1904645 | response to amyloid-beta | 23376566 |
Tgene | CALR | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8107809 |
Tgene | CALR | GO:0006611 | protein export from nucleus | 11149926 |
Tgene | CALR | GO:0017148 | negative regulation of translation | 14726956 |
Tgene | CALR | GO:0033144 | negative regulation of intracellular steroid hormone receptor signaling pathway | 8107809 |
Tgene | CALR | GO:0034504 | protein localization to nucleus | 15998798 |
Tgene | CALR | GO:0045665 | negative regulation of neuron differentiation | 8107809 |
Tgene | CALR | GO:0045892 | negative regulation of transcription, DNA-templated | 8107809 |
Tgene | CALR | GO:0048387 | negative regulation of retinoic acid receptor signaling pathway | 8107809 |
![]() * 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 CACNA1B-CALR |
![]() * 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 |
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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 CACNA1B-CALR |
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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 CACNA1B-CALR |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:140787680/:13055303) - 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 CACNA1B-CALR |
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Fusion Gene PPI Analysis for CACNA1B-CALR |
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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 CACNA1B-CALR |
![]() (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 CACNA1B-CALR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CACNA1B | C0026650 | Movement Disorders | 2 | GENOMICS_ENGLAND |
Hgene | CACNA1B | C0036341 | Schizophrenia | 2 | PSYGENET |
Hgene | CACNA1B | C0036572 | Seizures | 2 | GENOMICS_ENGLAND |
Hgene | CACNA1B | C0557874 | Global developmental delay | 2 | GENOMICS_ENGLAND |
Hgene | CACNA1B | C1836830 | Developmental regression | 2 | GENOMICS_ENGLAND |
Hgene | CACNA1B | C3714756 | Intellectual Disability | 2 | GENOMICS_ENGLAND |
Hgene | CACNA1B | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | CACNA1B | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |
Tgene | C0001815 | Primary Myelofibrosis | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0026987 | Myelofibrosis | 2 | GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0033975 | Psychotic Disorders | 2 | PSYGENET | |
Tgene | C0036337 | Schizoaffective Disorder | 2 | PSYGENET | |
Tgene | C0040028 | Thrombocythemia, Essential | 2 | CTD_human;ORPHANET | |
Tgene | C0349204 | Nonorganic psychosis | 2 | PSYGENET | |
Tgene | C0004565 | Melanoma, B16 | 1 | CTD_human | |
Tgene | C0005586 | Bipolar Disorder | 1 | PSYGENET | |
Tgene | C0009075 | Melanoma, Cloudman S91 | 1 | CTD_human | |
Tgene | C0009402 | Colorectal Carcinoma | 1 | CTD_human | |
Tgene | C0009404 | Colorectal Neoplasms | 1 | CTD_human | |
Tgene | C0018598 | Melanoma, Harding-Passey | 1 | CTD_human | |
Tgene | C0025205 | Melanoma, Experimental | 1 | CTD_human | |
Tgene | C0027022 | Myeloproliferative disease | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0033937 | Psychoses, Drug | 1 | PSYGENET | |
Tgene | C0036349 | Paranoid Schizophrenia | 1 | PSYGENET | |
Tgene | C0036939 | Shared Paranoid Disorder | 1 | PSYGENET | |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C3277671 | THROMBOCYTHEMIA 1 | 1 | GENOMICS_ENGLAND |