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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:PPFIBP1-CACNA1C (FusionGDB2 ID:67453)

Fusion Gene Summary for PPFIBP1-CACNA1C

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIBP1-CACNA1C
Fusion gene ID: 67453
HgeneTgene
Gene symbol

PPFIBP1

CACNA1C

Gene ID

8496

775

Gene namePPFIA binding protein 1calcium voltage-gated channel subunit alpha1 C
SynonymsL2|SGT2|hSGT2|hSgt2pCACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8
Cytomap

12p11.23-p11.22

12p13.33

Type of geneprotein-codingprotein-coding
Descriptionliprin-beta-1PTPRF interacting protein, binding protein 1 (liprin beta 1)PTPRF-interacting protein-binding protein 1liprin related proteinprotein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1voltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent,
Modification date2020031320200315
UniProtAcc.

Q13936

Ensembl transtripts involved in fusion geneENST00000541633, ENST00000228425, 
ENST00000318304, ENST00000535047, 
ENST00000537927, ENST00000542629, 
ENST00000545334, 		ENST00000327702, 
ENST00000335762, ENST00000344100, 
ENST00000347598, ENST00000399591, 
ENST00000399595, ENST00000399597, 
ENST00000399601, ENST00000399603, 
ENST00000399606, ENST00000399617, 
ENST00000399621, ENST00000399629, 
ENST00000399634, ENST00000399637, 
ENST00000399638, ENST00000399641, 
ENST00000399644, ENST00000399649, 
ENST00000399655, ENST00000402845, 
ENST00000406454, ENST00000480911, 
ENST00000491104, 
Fusion gene scores* DoF score20 X 14 X 13=364021 X 20 X 10=4200
# samples 2624
** MAII scorelog2(26/3640*10)=-3.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/4200*10)=-4.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPFIBP1 [Title/Abstract] AND CACNA1C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPFIBP1(27677298)-CACNA1C(2690756), # samples:2
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
TgeneCACNA1C

GO:0007204

positive regulation of cytosolic calcium ion concentration

12130699

TgeneCACNA1C

GO:0061577

calcium ion transmembrane transport via high voltage-gated calcium channel

15454078

TgeneCACNA1C

GO:0070588

calcium ion transmembrane transport

15454078


check buttonFusion gene breakpoints across PPFIBP1 (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 CACNA1C (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
ChimerDB4BLCATCGA-XF-AAMX-01APPFIBP1chr12

27677298

-CACNA1Cchr12

2690756

+
ChimerDB4BLCATCGA-XF-AAMX-01APPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+


Top

Fusion Gene ORF analysis for PPFIBP1-CACNA1C

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-3CDSENST00000541633ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-3CDSENST00000541633ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
3UTR-intronENST00000541633ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000228425ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000318304ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000535047ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000537927ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000542629ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000327702PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000335762PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000344100PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000347598PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399591PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399595PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399597PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399601PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399603PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399606PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399617PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399621PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399629PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399634PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399637PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399638PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399641PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399644PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399649PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000399655PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000402845PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000406454PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-3CDSENST00000545334ENST00000480911PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-intronENST00000228425ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-intronENST00000318304ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-intronENST00000535047ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-intronENST00000537927ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-intronENST00000542629ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+
5UTR-intronENST00000545334ENST00000491104PPFIBP1chr12

27677298

+CACNA1Cchr12

2690756

+

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 PPFIBP1-CACNA1C


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)
PPFIBP1chr1227677298+CACNA1Cchr122690755+0.0001341560.9998658
PPFIBP1chr1227677298+CACNA1Cchr122690755+0.0001341560.9998658

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.
genomic feature of top 1%

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Fusion Protein Features for PPFIBP1-CACNA1C


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/:27677298/:2690756)
- 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
.CACNA1C

Q13936

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: Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:23677916). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable). {ECO:0000250|UniProtKB:P15381, ECO:0000269|PubMed:11741969, ECO:0000269|PubMed:12176756, ECO:0000269|PubMed:12181424, ECO:0000269|PubMed:15454078, ECO:0000269|PubMed:15863612, ECO:0000269|PubMed:16299511, ECO:0000269|PubMed:17071743, ECO:0000269|PubMed:17224476, ECO:0000269|PubMed:20953164, ECO:0000269|PubMed:23677916, ECO:0000269|PubMed:24728418, ECO:0000269|PubMed:26253506, ECO:0000269|PubMed:27218670, ECO:0000269|PubMed:28119464, ECO:0000269|PubMed:29078335, ECO:0000269|PubMed:29742403, ECO:0000269|PubMed:7737988, ECO:0000269|PubMed:8099908, ECO:0000269|PubMed:8392192, ECO:0000269|PubMed:9013606, ECO:0000269|PubMed:9087614, ECO:0000269|PubMed:9607315, ECO:0000305}.; FUNCTION: (Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930). {ECO:0000269|PubMed:29779930}.

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 PPFIBP1-CACNA1C


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 PPFIBP1-CACNA1C


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 PPFIBP1-CACNA1C


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 PPFIBP1-CACNA1C


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