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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BAZ1A-CACNA1H (FusionGDB2 ID:HG11177TG8912)

Fusion Gene Summary for BAZ1A-CACNA1H

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ1A-CACNA1H
Fusion gene ID: hg11177tg8912
HgeneTgene
Gene symbol

BAZ1A

CACNA1H

Gene ID

11177

8912

Gene namebromodomain adjacent to zinc finger domain 1Acalcium voltage-gated channel subunit alpha1 H
SynonymsACF1|WALp1|WCRF180|hACF1CACNA1HB|Cav3.2|ECA6|EIG6|HALD4
Cytomap('BAZ1A')('CACNA1H')

14q13.1-q13.2

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionbromodomain adjacent to zinc finger domain protein 1AATP-dependent chromatin remodeling proteinATP-utilizing chromatin assembly and remodeling factor 1CHRAC subunit ACF1hWALp1williams syndrome transcription factor-related chromatin-remodeling factor voltage-dependent T-type calcium channel subunit alpha-1Hcalcium channel, voltage-dependent, T type, alpha 1H subunitcalcium channel, voltage-dependent, T type, alpha 1Hb subunitlow-voltage-activated calcium channel alpha1 3.2 subunitlow-voltage-activ
Modification date2020031320200313
UniProtAcc.

O95180

Ensembl transtripts involved in fusion geneENST00000358716, ENST00000360310, 
ENST00000382422, ENST00000553853, 
Fusion gene scores* DoF score12 X 9 X 5=5409 X 9 X 4=324
# samples 129
** MAII scorelog2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAZ1A [Title/Abstract] AND CACNA1H [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAZ1A(35221962)-CACNA1H(1257311), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBAZ1A

GO:0006261

DNA-dependent DNA replication

12434153

TgeneCACNA1H

GO:0042391

regulation of membrane potential

21084288

TgeneCACNA1H

GO:0070509

calcium ion import

21084288

TgeneCACNA1H

GO:0098662

inorganic cation transmembrane transport

27149520



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for BAZ1A-CACNA1H

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for BAZ1A-CACNA1H


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for BAZ1A-CACNA1H


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:35221962/:1257311)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CACNA1H

O95180

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: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216). {ECO:0000269|PubMed:24277868, ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755, ECO:0000305, ECO:0000305|PubMed:15048902}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for BAZ1A-CACNA1H


check button 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 BAZ1A-CACNA1H


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for BAZ1A-CACNA1H


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCACNA1HO95180DB00661VerapamilInhibitorSmall moleculeApproved
TgeneCACNA1HO95180DB04841FlunarizineInhibitorSmall moleculeApproved
TgeneCACNA1HO95180DB00270IsradipineInhibitorSmall moleculeApproved|Investigational
TgeneCACNA1HO95180DB00568CinnarizineInhibitorSmall moleculeApproved|Investigational
TgeneCACNA1HO95180DB00909ZonisamideInhibitorSmall moleculeApproved|Investigational
TgeneCACNA1HO95180DB01023FelodipineInhibitorSmall moleculeApproved|Investigational
TgeneCACNA1HO95180DB01054NitrendipineInhibitorSmall moleculeApproved|Investigational
TgeneCACNA1HO95180DB09061CannabidiolSmall moleculeApproved|Investigational
TgeneCACNA1HO95180DB01244BepridilInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for BAZ1A-CACNA1H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0014548Epilepsy, Generalized6CLINGEN
TgeneC2749872EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 65GENOMICS_ENGLAND;UNIPROT
TgeneC0020429Hyperalgesia2CTD_human
TgeneC0458247Allodynia2CTD_human
TgeneC0751211Hyperalgesia, Primary2CTD_human
TgeneC0751212Hyperalgesia, Secondary2CTD_human
TgeneC0751213Tactile Allodynia2CTD_human
TgeneC0751214Hyperalgesia, Thermal2CTD_human
TgeneC2936719Mechanical Allodynia2CTD_human
TgeneC4310756HYPERALDOSTERONISM, FAMILIAL, TYPE IV2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002875Cooley's anemia1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005283beta Thalassemia1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0019025Hemoglobin F Disease1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0085578Thalassemia Minor1CTD_human
TgeneC0271979Thalassemia Intermedia1CTD_human
TgeneC1838604EPILEPSY, CHILDHOOD ABSENCE, 11ORPHANET
TgeneC4721453Peripheral Nervous System Diseases1CTD_human