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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:CACNB4-YWHAZ (FusionGDB2 ID:12456)

Fusion Gene Summary for CACNB4-YWHAZ

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNB4-YWHAZ
Fusion gene ID: 12456
HgeneTgene
Gene symbol

CACNB4

YWHAZ

Gene ID

785

7534

Gene namecalcium voltage-gated channel auxiliary subunit beta 4tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
SynonymsCAB4|CACNLB4|EA5|EIG9|EJM|EJM4|EJM614-3-3-zeta|HEL-S-3|HEL-S-93|HEL4|KCIP-1|POPCHAS|YWHAD
Cytomap

2q23.3

8q22.3

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent L-type calcium channel subunit beta-4calcium channel voltage-dependent subunit beta 4dihydropyridine-sensitive L-type, calcium channel beta-4 subunit14-3-3 protein zeta/delta14-3-3 delta14-3-3 protein/cytosolic phospholipase A214-3-3 zetaepididymis luminal protein 4epididymis secretory protein Li 3epididymis secretory protein Li 93phospholipase A2protein kinase C inhibitor protein-1tyrosine 3
Modification date2020032620200329
UniProtAcc

O00305

.
Ensembl transtripts involved in fusion geneENST00000539935, ENST00000360283, 
ENST00000534999, ENST00000397327, 
ENST00000427385, ENST00000201943, 
ENST00000475848, 		ENST00000395957, 
ENST00000395958, ENST00000457309, 
ENST00000395956, ENST00000353245, 
ENST00000522542, ENST00000521309, 
ENST00000522819, ENST00000395953, 
ENST00000395948, ENST00000395951, 
ENST00000419477, ENST00000492736, 
Fusion gene scores* DoF score3 X 3 X 2=1811 X 10 X 7=770
# samples 315
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(15/770*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNB4 [Title/Abstract] AND YWHAZ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNB4(152828059)-YWHAZ(101937267), # samples:1
Anticipated loss of major functional domain due to fusion event.CACNB4-YWHAZ seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CACNB4-YWHAZ seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CACNB4-YWHAZ seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor 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)

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

GO:0070372

regulation of ERK1 and ERK2 cascade

31024343

TgeneYWHAZ

GO:0090128

regulation of synapse maturation

16959763


check buttonFusion gene breakpoints across CACNB4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across YWHAZ (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PCPGTCGA-WB-A81W-01ACACNB4chr2

152828059

-YWHAZchr8

101937267

-


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Fusion Gene ORF analysis for CACNB4-YWHAZ

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
intron-3CDSENST00000539935ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000539935ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000539935ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000539935ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000539935ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000539935ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000539935ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000539935ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000539935ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000539935ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000539935ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000539935ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-intronENST00000539935ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000360283ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000360283ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000360283ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000360283ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000360283ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000360283ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000360283ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000360283ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000360283ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000360283ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000360283ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000360283ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-intronENST00000360283ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000534999ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000534999ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000534999ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000534999ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000534999ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000534999ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000534999ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000534999ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000534999ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000534999ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000534999ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000534999ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-intronENST00000534999ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-
Frame-shiftENST00000397327ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
Frame-shiftENST00000397327ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
Frame-shiftENST00000397327ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
Frame-shiftENST00000397327ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
Frame-shiftENST00000397327ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
Frame-shiftENST00000397327ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-5UTRENST00000397327ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-5UTRENST00000397327ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-5UTRENST00000397327ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-5UTRENST00000397327ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-5UTRENST00000397327ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-5UTRENST00000397327ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
5CDS-intronENST00000397327ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000427385ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000427385ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000427385ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000427385ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000427385ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000427385ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000427385ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000427385ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000427385ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000427385ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000427385ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000427385ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-intronENST00000427385ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000201943ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000201943ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000201943ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000201943ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000201943ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000201943ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000201943ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000201943ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000201943ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000201943ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000201943ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000201943ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-intronENST00000201943ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000475848ENST00000395957CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000475848ENST00000395958CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000475848ENST00000457309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000475848ENST00000395956CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000475848ENST00000353245CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-3CDSENST00000475848ENST00000522542CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000475848ENST00000521309CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000475848ENST00000522819CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000475848ENST00000395953CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000475848ENST00000395948CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000475848ENST00000395951CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-5UTRENST00000475848ENST00000419477CACNB4chr2

152828059

-YWHAZchr8

101937267

-
intron-intronENST00000475848ENST00000492736CACNB4chr2

152828059

-YWHAZchr8

101937267

-

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 CACNB4-YWHAZ


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)

check buttonDistribution 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.

check buttonDistribution 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 CACNB4-YWHAZ


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNB4

O00305

.
FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. {ECO:0000269|PubMed:11880487}.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.

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 CACNB4-YWHAZ


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 CACNB4-YWHAZ


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 CACNB4-YWHAZ


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNB4O00305DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNB4O00305DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNB4O00305DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNB4O00305DB00393NimodipineInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CACNB4-YWHAZ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNB4C0014544Epilepsy6CLINGEN
HgeneCACNB4C0270853Juvenile Myoclonic Epilepsy2CTD_human;ORPHANET
HgeneCACNB4C1866039EPISODIC ATAXIA, TYPE 52CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCACNB4C0004134Ataxia1CTD_human
HgeneCACNB4C0014548Epilepsy, Generalized1CTD_human
HgeneCACNB4C0017332Generalized Nonconvulsive Seizure Disorder1CTD_human
HgeneCACNB4C0086236Epilepsy, Atonic1CTD_human
HgeneCACNB4C0086241Epilepsy, Tonic1CTD_human
HgeneCACNB4C0240991Ataxia, Sensory1CTD_human
HgeneCACNB4C0270854Symptomatic Generalized Epilepsy1CTD_human
HgeneCACNB4C0278161Ataxia, Motor1CTD_human
HgeneCACNB4C0311334Generalized convulsive epilepsy1CTD_human
HgeneCACNB4C0347869Epilepsy, Akinetic1CTD_human
HgeneCACNB4C0427190Ataxia, Truncal1CTD_human
HgeneCACNB4C0520966Abnormal coordination1CTD_human
HgeneCACNB4C0750937Ataxia, Appendicular1CTD_human
HgeneCACNB4C0750940Tremor, Rubral1CTD_human
HgeneCACNB4C1720189Episodic Ataxia1GENOMICS_ENGLAND
HgeneCACNB4C2750887EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 91GENOMICS_ENGLAND
HgeneCACNB4C4551857Juvenile Myoclonic Epilepsy of Janz1CTD_human
HgeneCACNB4C4552768Myoclonic Epilepsy, Adolescent1CTD_human
HgeneCACNB4C4553087Myoclonic Epilepsy, Juvenile, 11CTD_human
HgeneCACNB4C4553298Impulsive Petit Mal Epilepsy1CTD_human
TgeneYWHAZC0005586Bipolar Disorder5PSYGENET
TgeneYWHAZC0007097Carcinoma1CTD_human
TgeneYWHAZC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneYWHAZC0024667Animal Mammary Neoplasms1CTD_human
TgeneYWHAZC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneYWHAZC0027643Neoplasm Recurrence, Local1CTD_human
TgeneYWHAZC0036349Paranoid Schizophrenia1PSYGENET
TgeneYWHAZC0205696Anaplastic carcinoma1CTD_human
TgeneYWHAZC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneYWHAZC0205698Undifferentiated carcinoma1CTD_human
TgeneYWHAZC0205699Carcinomatosis1CTD_human
TgeneYWHAZC1257925Mammary Carcinoma, Animal1CTD_human