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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:CACNB1-RPL19 (FusionGDB2 ID:12442)

Fusion Gene Summary for CACNB1-RPL19

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNB1-RPL19
Fusion gene ID: 12442
HgeneTgene
Gene symbol

CACNB1

RPL19

Gene ID

782

6143

Gene namecalcium voltage-gated channel auxiliary subunit beta 1ribosomal protein L19
SynonymsCAB1|CACNLB1|CCHLB1L19
Cytomap

17q12

17q12

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent L-type calcium channel subunit beta-1calcium channel voltage-dependent subunit beta 1calcium channel, L type, beta 1 polypeptidecalcium channel, voltage-dependent, beta 1 subunitdihydropyridine-sensitive L-type, calcium channel beta-60S ribosomal protein L19large ribosomal subunit protein eL19
Modification date2020031320200313
UniProtAcc

Q02641

.
Ensembl transtripts involved in fusion geneENST00000394303, ENST00000394310, 
ENST00000344140, ENST00000582877, 
ENST00000225430, ENST00000579374, 
ENST00000579260, ENST00000582193, 
Fusion gene scores* DoF score16 X 13 X 5=10406 X 6 X 3=108
# samples 177
** MAII scorelog2(17/1040*10)=-2.61297687689075
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNB1 [Title/Abstract] AND RPL19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPL19(37357572)-CACNB1(37351223), # samples:1
CACNB1(37341037)-RPL19(37358570), # samples:1
Anticipated loss of major functional domain due to fusion event.CACNB1-RPL19 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CACNB1-RPL19 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
RPL19-CACNB1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
RPL19-CACNB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
TgeneRPL19

GO:0002181

cytoplasmic translation

25957688


check buttonFusion gene breakpoints across CACNB1 (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 RPL19 (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
ChimerDB4BRCATCGA-A8-A08B-01ACACNB1chr17

37341037

-RPL19chr17

37358570

+


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Fusion Gene ORF analysis for CACNB1-RPL19

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
Frame-shiftENST00000394303ENST00000225430CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394303ENST00000579374CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394303ENST00000579260CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394303ENST00000582193CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394310ENST00000225430CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394310ENST00000579374CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394310ENST00000579260CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000394310ENST00000582193CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000344140ENST00000225430CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000344140ENST00000579374CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000344140ENST00000579260CACNB1chr17

37341037

-RPL19chr17

37358570

+
Frame-shiftENST00000344140ENST00000582193CACNB1chr17

37341037

-RPL19chr17

37358570

+
intron-3CDSENST00000582877ENST00000225430CACNB1chr17

37341037

-RPL19chr17

37358570

+
intron-3CDSENST00000582877ENST00000579374CACNB1chr17

37341037

-RPL19chr17

37358570

+
intron-3CDSENST00000582877ENST00000579260CACNB1chr17

37341037

-RPL19chr17

37358570

+
intron-3CDSENST00000582877ENST00000582193CACNB1chr17

37341037

-RPL19chr17

37358570

+

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 CACNB1-RPL19


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)
CACNB1chr1737341036-RPL19chr1737358569+3.64E-050.9999635
CACNB1chr1737341036-RPL19chr1737358569+3.64E-050.9999635

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 CACNB1-RPL19


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
CACNB1

Q02641

.
FUNCTION: Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:8107964, PubMed:15615847). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964). {ECO:0000250|UniProtKB:P19517, ECO:0000269|PubMed:1309651, ECO:0000269|PubMed:15615847, ECO:0000269|PubMed:8107964}.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 CACNB1-RPL19


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 CACNB1-RPL19


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 CACNB1-RPL19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNB1Q02641DB00308IbutilideActivatorSmall moleculeApproved
HgeneCACNB1Q02641DB00308IbutilideActivatorSmall moleculeApproved
HgeneCACNB1Q02641DB00381AmlodipineInhibitorSmall moleculeApproved
HgeneCACNB1Q02641DB00381AmlodipineInhibitorSmall moleculeApproved
HgeneCACNB1Q02641DB00898EthanolSmall moleculeApproved
HgeneCACNB1Q02641DB00898EthanolSmall moleculeApproved
HgeneCACNB1Q02641DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNB1Q02641DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNB1Q02641DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNB1Q02641DB00393NimodipineInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CACNB1-RPL19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRPL19C1260899Anemia, Diamond-Blackfan1GENOMICS_ENGLAND