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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: 5190

FusionGeneSummary for CACNA1D_NOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1D_NOX1
Fusion gene ID: 5190
HgeneTgene
Gene symbol

CACNA1D

NOX1

Gene ID

776

27035

Gene namecalcium voltage-gated channel subunit alpha1 DNADPH oxidase 1
SynonymsCACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3|PASNA|SANDDGP91-2|MOX1|NOH-1|NOH1
Cytomap

3p21.1

Xq22.1

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent L-type calcium channel subunit alpha-1Dcalcium channel, L type, alpha-1 polypeptidecalcium channel, neuroendocrine/brain-type, alpha 1 subunitcalcium channel, voltage-dependent, L type, alpha 1D subunitvoltage-gated calcium channel aNADPH oxidase 1NADH/NADPH mitogenic oxidase subunit P65-MOXNADPH oxidase homolog-1mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)mitogenic oxidase 1
Modification date2018052320180527
UniProtAcc

Q01668

Q9Y5S8

Ensembl transtripts involved in fusion geneENST00000350061, ENST00000288139, 
ENST00000422281, ENST00000498251, 
ENST00000540742, ENST00000544977, 
ENST00000372966, ENST00000372964, 
ENST00000217885, ENST00000372960, 
Fusion gene scores* DoF score5 X 5 X 4=1001 X 1 X 1=1
# samples 61
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: CACNA1D [Title/Abstract] AND NOX1 [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
HgeneCACNA1D

GO:0006816

calcium ion transport

11160515

HgeneCACNA1D

GO:0051928

positive regulation of calcium ion transport

1309651

HgeneCACNA1D

GO:0070509

calcium ion import

1309651

TgeneNOX1

GO:0008284

positive regulation of cell proliferation

10485709

TgeneNOX1

GO:0042554

superoxide anion generation

10485709

TgeneNOX1

GO:0042743

hydrogen peroxide metabolic process

11331784

TgeneNOX1

GO:0051454

intracellular pH elevation

10615049

TgeneNOX1

GO:0055114

oxidation-reduction process

10615049

TgeneNOX1

GO:1990451

cellular stress response to acidic pH

10615049


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
ChiTaRS3.1BF755778CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
* 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
intron-intronENST00000350061ENST00000372966CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000350061ENST00000372964CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000350061ENST00000217885CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000350061ENST00000372960CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000288139ENST00000372966CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000288139ENST00000372964CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000288139ENST00000217885CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000288139ENST00000372960CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000422281ENST00000372966CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000422281ENST00000372964CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000422281ENST00000217885CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000422281ENST00000372960CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000498251ENST00000372966CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000498251ENST00000372964CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000498251ENST00000217885CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000498251ENST00000372960CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000540742ENST00000372966CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000540742ENST00000372964CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000540742ENST00000217885CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000540742ENST00000372960CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000544977ENST00000372966CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000544977ENST00000372964CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000544977ENST00000217885CACNA1Dchr3

53617676

+NOX1chrX

100110588

-
intron-intronENST00000544977ENST00000372960CACNA1Dchr3

53617676

+NOX1chrX

100110588

-

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FusionProtFeatures for CACNA1D_NOX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNA1D

Q01668

NOX1

Q9Y5S8

Voltage-sensitive calcium channels (VSCC) mediate theentry of calcium ions into excitable cells and are also involvedin a variety of calcium-dependent processes, including musclecontraction, hormone or neurotransmitter release, gene expression,cell motility, cell division and cell death. The isoform alpha-1Dgives rise to L-type calcium currents. Long-lasting (L-type)calcium channels belong to the 'high-voltage activated' (HVA)group. They are blocked by dihydropyridines (DHP),phenylalkylamines, and by benzothiazepines.{ECO:0000269|PubMed:18482979, ECO:0000269|PubMed:25620733,ECO:0000269|PubMed:28472301}. NOH-1S is a voltage-gated proton channel that mediatesthe H(+) currents of resting phagocytes and other tissues. Itparticipates in the regulation of cellular pH and is blocked byzinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductasethat generates superoxide and might conduct H(+) ions as part ofits electron transport mechanism, whereas NOH-1S does not containan electron transport chain.

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 CACNA1D_NOX1


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 CACNA1D_NOX1


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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RelatedDrugs for CACNA1D_NOX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNA1DQ01668DB00381AmlodipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved
HgeneCACNA1DQ01668DB00401NisoldipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved
HgeneCACNA1DQ01668DB00661VerapamilVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved
HgeneCACNA1DQ01668DB00898EthanolVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved
HgeneCACNA1DQ01668DB01115NifedipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved
HgeneCACNA1DQ01668DB04855DronedaroneVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved
HgeneCACNA1DQ01668DB00270IsradipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB00393NimodipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB00568CinnarizineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB00622NicardipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB01023FelodipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB01054NitrendipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB04920ClevidipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
HgeneCACNA1DQ01668DB06712NilvadipineVoltage-dependent L-type calcium channel subunit alpha-1Dsmall moleculeapproved|investigational
TgeneNOX1Q9Y5S8DB09140OxygenNADPH oxidase 1small moleculeapproved|vet_approved

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RelatedDiseases for CACNA1D_NOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA1DC0001430Adenoma2CTD_human
HgeneCACNA1DC0011053Deafness1CTD_human;HPO
HgeneCACNA1DC0020428Hyperaldosteronism1CTD_human;HPO
HgeneCACNA1DC0525045Mood Disorders1PSYGENET
HgeneCACNA1DC3809609PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES1ORPHANET;UNIPROT
TgeneNOX1C0009375Colonic Neoplasms1CTD_human
TgeneNOX1C0018801Heart failure1CTD_human
TgeneNOX1C0020443Hypercholesterolemia1CTD_human