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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: 5224

FusionGeneSummary for CACNB1_CDC6

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNB1_CDC6
Fusion gene ID: 5224
HgeneTgene
Gene symbol

CACNB1

CDC6

Gene ID

782

990

Gene namecalcium voltage-gated channel auxiliary subunit beta 1cell division cycle 6
SynonymsCAB1|CACNLB1|CCHLB1CDC18L|HsCDC18|HsCDC6|MGORS5
Cytomap

17q12

17q21.2

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-cell division control protein 6 homologCDC6 cell division cycle 6 homologCDC6-related proteincdc18-related proteincell division cycle 6 homologp62(cdc6)
Modification date2018052320180523
UniProtAcc

Q02641

Q99741

Ensembl transtripts involved in fusion geneENST00000394303, ENST00000394310, 
ENST00000344140, ENST00000582877, 
ENST00000209728, 
Fusion gene scores* DoF score13 X 8 X 3=3128 X 4 X 7=224
# samples 129
** MAII scorelog2(12/312*10)=-1.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNB1 [Title/Abstract] AND CDC6 [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
TgeneCDC6

GO:0051984

positive regulation of chromosome segregation

21041660


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
TCGARVBRCATCGA-AR-A0TX-01ACACNB1chr17

37351137

-CDC6chr17

38445660

+
TCGALDBRCATCGA-BH-A0B7-01ACACNB1chr17

37351137

-CDC6chr17

38457080

+
* 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
5CDS-5UTRENST00000394303ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38445660

+
5CDS-5UTRENST00000394310ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38445660

+
5CDS-5UTRENST00000344140ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38445660

+
5UTR-5UTRENST00000582877ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38445660

+
Frame-shitENST00000394303ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38457080

+
Frame-shitENST00000394310ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38457080

+
Frame-shitENST00000344140ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38457080

+
5UTR-3CDSENST00000582877ENST00000209728CACNB1chr17

37351137

-CDC6chr17

38457080

+

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FusionProtFeatures for CACNB1_CDC6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNB1

Q02641

CDC6

Q99741

The beta subunit of voltage-dependent calcium channelscontributes to the function of the calcium channel by increasingpeak calcium current, shifting the voltage dependencies ofactivation and inactivation, modulating G protein inhibition andcontrolling the alpha-1 subunit membrane targeting. Involved in the initiation of DNA replication. Alsoparticipates in checkpoint controls that ensure DNA replication iscompleted before mitosis is initiated.

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 CACNB1_CDC6


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 CACNB1_CDC6


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
CACNB1NEDD4L, ATN1, APP, SRPK1, CACNB2, CACNB3, C19orf26, KLHL15, WDR75CDC6PPP2R3B, ORC2, ORC1, MCM7, PSKH1, CCNA2, MYC, CDK2, PCNA, MCM3, AKAP8L, PPP2R3A, CDT1, MCM8, HUWE1, TERF1, ATR, ATM, ATRIP, BMI1, KAT7, CCL2, FZR1, CDC20, CDK4, CDK6, MCM10, MCM2, ORC5, ORC3, ORC6, CDKN2A, CDKN1A, CCNE1, CCNB1, CDK1, B3GALNT1, UBE2K, CDC14A, UBR1, TSPAN3, COLEC11, TGFBR2, ISLR, PON2, POLA1, NOP56, CCNF, LAMP2, IL20RA, TNFRSF1A, FAM131B, PROZ, MANSC1, PCDHB11, TNFRSF10A, LAMP3, BPNT1, C1orf85, TNFRSF8, MAGEA10, PCDHGA5, CHEK2, CHEK1, TOP1, TOP2A, TOP3A, WEE1, HEY1


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 CACNB1_CDC6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNB1Q02641DB00308IbutilideVoltage-dependent L-type calcium channel subunit beta-1small moleculeapproved
HgeneCACNB1Q02641DB00661VerapamilVoltage-dependent L-type calcium channel subunit beta-1small moleculeapproved
HgeneCACNB1Q02641DB00898EthanolVoltage-dependent L-type calcium channel subunit beta-1small moleculeapproved
HgeneCACNB1Q02641DB04855DronedaroneVoltage-dependent L-type calcium channel subunit beta-1small moleculeapproved
HgeneCACNB1Q02641DB00393NimodipineVoltage-dependent L-type calcium channel subunit beta-1small moleculeapproved|investigational
HgeneCACNB1Q02641DB00653Magnesium sulfateVoltage-dependent L-type calcium channel subunit beta-1small moleculeapproved|investigational|vet_approved

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RelatedDiseases for CACNB1_CDC6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCDC6C0032460Polycystic Ovary Syndrome1CTD_human
TgeneCDC6C1868684EAR, PATELLA, SHORT STATURE SYNDROME1CTD_human;ORPHANET
TgeneCDC6C3151126MEIER-GORLIN SYNDROME 51UNIPROT