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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:CACNA1I-ZNF462 (FusionGDB2 ID:12350)

Fusion Gene Summary for CACNA1I-ZNF462

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1I-ZNF462
Fusion gene ID: 12350
HgeneTgene
Gene symbol

CACNA1I

ZNF462

Gene ID

150350

58499

Gene nameENTH domain containing 1zinc finger protein 462
SynonymsCACNA1I|dJ370M22.3WSKA|ZFPIP|Zfp462
Cytomap

22q13.1

9q31.2

Type of geneprotein-codingprotein-coding
DescriptionENTH domain-containing protein 1dJ370M22.3 (EPSIN 2B)epsin-2Bzinc finger protein 462zinc finger PBX1-interacting protein
Modification date2020031320200313
UniProtAcc

Q9P0X4

.
Ensembl transtripts involved in fusion geneENST00000336649, ENST00000400164, 
ENST00000402142, ENST00000404898, 
ENST00000401624, ENST00000407673, 
ENST00000471970, 		ENST00000277225, 
ENST00000441147, ENST00000457913, 
ENST00000497489, ENST00000542028, 
Fusion gene scores* DoF score5 X 6 X 3=908 X 8 X 3=192
# samples 69
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNA1I [Title/Abstract] AND ZNF462 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNA1I(40085006)-ZNF462(109677900), # 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

check buttonFusion gene breakpoints across CACNA1I (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 ZNF462 (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
ChiTaRS5.0N/ABG995152CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+


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Fusion Gene ORF analysis for CACNA1I-ZNF462

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
3UTR-intronENST00000336649ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000336649ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000336649ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000336649ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000336649ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000400164ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000400164ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000400164ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000400164ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000400164ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000402142ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000402142ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000402142ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000402142ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000402142ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000404898ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000404898ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000404898ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000404898ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
3UTR-intronENST00000404898ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000401624ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000401624ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000401624ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000401624ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000401624ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000407673ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000407673ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000407673ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000407673ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000407673ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000471970ENST00000277225CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000471970ENST00000441147CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000471970ENST00000457913CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000471970ENST00000497489CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+
intron-intronENST00000471970ENST00000542028CACNA1Ichr22

40085006

-ZNF462chr9

109677900

+

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 CACNA1I-ZNF462


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 CACNA1I-ZNF462


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/:40085006/:109677900)
- 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
CACNA1I

Q9P0X4

.
FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. 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. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (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}.

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 CACNA1I-ZNF462


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 CACNA1I-ZNF462


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 CACNA1I-ZNF462


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

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Related Diseases for CACNA1I-ZNF462


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource