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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5202

FusionGeneSummary for CACNA1I_FBXW5

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1I_FBXW5
Fusion gene ID: 5202
HgeneTgene
Gene symbol

CACNA1I

FBXW5

Gene ID

150350

54461

Gene nameENTH domain containing 1F-box and WD repeat domain containing 5
SynonymsCACNA1I|dJ370M22.3Fbw5
Cytomap

22q13.1

9q34.3

Type of geneprotein-codingprotein-coding
DescriptionENTH domain-containing protein 1dJ370M22.3 (EPSIN 2B)epsin-2BF-box/WD repeat-containing protein 5F-box and WD-40 domain-containing protein 5WD repeat-containing F-box protein FBW5
Modification date2018032920180522
UniProtAcc

Q9P0X4

Q969U6

Ensembl transtripts involved in fusion geneENST00000407673, ENST00000401624, 
ENST00000404898, ENST00000400164, 
ENST00000336649, ENST00000402142, 
ENST00000471970, 		ENST00000325285, 
ENST00000483559, 
Fusion gene scores* DoF score4 X 4 X 3=482 X 2 X 2=8
# samples 42
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: CACNA1I [Title/Abstract] AND FBXW5 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneFBXW5

GO:0016567

protein ubiquitination

18381890|21725316

TgeneFBXW5

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

21725316

TgeneFBXW5

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

18381890


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBLCATCGA-XF-AAMY-01ACACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shiftENST00000407673ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
5CDS-5UTRENST00000407673ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
Frame-shiftENST00000401624ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
5CDS-5UTRENST00000401624ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
Frame-shiftENST00000404898ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
5CDS-5UTRENST00000404898ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
Frame-shiftENST00000400164ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
5CDS-5UTRENST00000400164ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
Frame-shiftENST00000336649ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
5CDS-5UTRENST00000336649ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
Frame-shiftENST00000402142ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
5CDS-5UTRENST00000402142ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
intron-3CDSENST00000471970ENST00000325285CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-
intron-5UTRENST00000471970ENST00000483559CACNA1Ichr22

40078666

+FBXW5chr9

139835623

-

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FusionProtFeatures for CACNA1I_FBXW5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNA1I

Q9P0X4

FBXW5

Q969U6


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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FusionGeneSequence for CACNA1I_FBXW5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CACNA1I_FBXW5


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
CACNA1IALBFBXW5KRTAP4-12, MDFI, NLK, DDB1, CUL4A, TSC1, TSC2, WDR20, CDC20, SASS6, PLK4, UBE2R2, SKP1, REST, CUL1, MYB, MAP3K7, HSP90AA1, DLC1, TNFAIP8L1, CUL3, KRT31, TRIM27, ADAMTSL4, KRTAP9-4, KRT40, KRTAP10-8, KRTAP10-3, NOTCH2NL, ODF3L2, SRFBP1, ZNRF1, HSPB9, FAM168A, S100B, XPO1, FOXR1, DEFB1, NDEL1, NEFM, TSNAXIP1, ZNF704


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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RelatedDrugs for CACNA1I_FBXW5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNA1IQ9P0X4DB00617ParamethadioneVoltage-dependent T-type calcium channel subunit alpha-1Ismall moleculeapproved
HgeneCACNA1IQ9P0X4DB00661VerapamilVoltage-dependent T-type calcium channel subunit alpha-1Ismall moleculeapproved
HgeneCACNA1IQ9P0X4DB04841FlunarizineVoltage-dependent T-type calcium channel subunit alpha-1Ismall moleculeapproved
HgeneCACNA1IQ9P0X4DB00568CinnarizineVoltage-dependent T-type calcium channel subunit alpha-1Ismall moleculeapproved|investigational
HgeneCACNA1IQ9P0X4DB00909ZonisamideVoltage-dependent T-type calcium channel subunit alpha-1Ismall moleculeapproved|investigational

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RelatedDiseases for CACNA1I_FBXW5


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