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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: 5180

FusionGeneSummary for CACNA1C_MNAT1

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1C_MNAT1
Fusion gene ID: 5180
HgeneTgene
Gene symbol

CACNA1C

MNAT1

Gene ID

775

4331

Gene namecalcium voltage-gated channel subunit alpha1 CMNAT1, CDK activating kinase assembly factor
SynonymsCACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TSCAP35|MAT1|RNF66|TFB3
Cytomap

12p13.33

14q23.1

Type of geneprotein-codingprotein-coding
Descriptionvoltage-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, CDK-activating kinase assembly factor MAT1CDK7/cyclin-H assembly factorMNAT CDK-activating kinase assembly factor 1RING finger protein 66RING finger protein MAT1cyclin G1 interacting proteinmenage a trois 1 (CAK assembly factor)menage a trois homol
Modification date2018052320180523
UniProtAcc

Q13936

P51948

Ensembl transtripts involved in fusion geneENST00000335762, ENST00000399655, 
ENST00000480911, ENST00000399644, 
ENST00000344100, ENST00000399638, 
ENST00000399629, ENST00000399597, 
ENST00000327702, ENST00000399621, 
ENST00000399649, ENST00000399637, 
ENST00000402845, ENST00000399591, 
ENST00000399641, ENST00000347598, 
ENST00000399606, ENST00000399595, 
ENST00000399601, ENST00000399603, 
ENST00000399634, ENST00000399617, 
ENST00000406454, ENST00000491104, 
ENST00000555545, ENST00000261245, 
ENST00000539616, 
Fusion gene scores* DoF score13 X 10 X 7=9109 X 6 X 5=270
# samples 1210
** MAII scorelog2(12/910*10)=-2.92283213947754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/270*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNA1C [Title/Abstract] AND MNAT1 [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
HgeneCACNA1C

GO:0007204

positive regulation of cytosolic calcium ion concentration

12130699

HgeneCACNA1C

GO:0061577

calcium ion transmembrane transport via high voltage-gated calcium channel

15454078

HgeneCACNA1C

GO:0070588

calcium ion transmembrane transport

15454078

TgeneMNAT1

GO:0006357

regulation of transcription by RNA polymerase II

10801852

TgeneMNAT1

GO:0006366

transcription by RNA polymerase II

9852112

TgeneMNAT1

GO:0045944

positive regulation of transcription by RNA polymerase II

8692841


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
ChiTaRS3.1DA692923CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
* 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-intronENST00000335762ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000335762ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000335762ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399655ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399655ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399655ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000480911ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000480911ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000480911ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399644ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399644ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399644ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000344100ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000344100ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000344100ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399638ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399638ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399638ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399629ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399629ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399629ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399597ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399597ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399597ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000327702ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000327702ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000327702ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399621ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399621ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399621ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399649ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399649ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399649ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399637ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399637ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399637ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000402845ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000402845ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000402845ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399591ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399591ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399591ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399641ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399641ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399641ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000347598ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000347598ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000347598ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399606ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399606ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399606ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399595ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399595ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399595ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399601ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399601ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399601ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399603ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399603ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399603ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399634ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399634ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399634ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399617ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399617ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000399617ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000406454ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000406454ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
5CDS-intronENST00000406454ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
intron-intronENST00000491104ENST00000555545CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
intron-intronENST00000491104ENST00000261245CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+
intron-intronENST00000491104ENST00000539616CACNA1Cchr12

2162778

+MNAT1chr14

61346430

+

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FusionProtFeatures for CACNA1C_MNAT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNA1C

Q13936

MNAT1

P51948

Stabilizes the cyclin H-CDK7 complex to form afunctional CDK-activating kinase (CAK) enzymatic complex. CAKactivates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6by threonine phosphorylation. CAK complexed to the core-TFIIHbasal transcription factor activates RNA polymerase II by serinephosphorylation of the repetitive C-terminal domain (CTD) of itslarge subunit (POLR2A), allowing its escape from the promoter andelongation of the transcripts. Involved in cell cycle control andin RNA transcription by RNA polymerase II.{ECO:0000269|PubMed:10024882}.

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 CACNA1C_MNAT1


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 CACNA1C_MNAT1


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
CACNA1CPCBD1, CACNB3, CABP1, RYR2, SRI, HDAC4, SIRT1, VCP, DERL1, TRIM13, CUL1, CAND1, COPS5, CALM1, KCNE2MNAT1CCNH, ERCC3, MTA1, ESR1, CDK7, HPS6, COPS6, RBM48, EEF1A1, LRIF1, POU5F1, POU2F2, POU2F1, MCM7, RB1, TP53, DMAP1, GTF2H2, GTF2H1, SP1, ERCC2, XBP1P1, ICK, BRCA1, GTF2H3, GTF2H4, USP2, POLR2A, SUPT5H, NKX3-1, TRIM2, TRIM9, TRIML1, MKRN3, TRIM31, TRIM34, RNF32, TRIM17, RNF7, RNF41, TRIM21, TRIM39, TRIM5, MDM4, TRIM26, NGFRAP1, RPA3, RPA2, RPA1, CDK2, SFR1, HIST1H2BG, PCIF1, GTF2H5, MAGEC2, MAGEE2, SIRT6


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 CACNA1C_MNAT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNA1CQ13936DB00308IbutilideVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB00381AmlodipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB00401NisoldipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB00661VerapamilVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB00898EthanolVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB01115NifedipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB04855DronedaroneVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB09089TrimebutineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB09227BarnidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved
HgeneCACNA1CQ13936DB00270IsradipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB00393NimodipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB00568CinnarizineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB00622NicardipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB01023FelodipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB01054NitrendipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB04920ClevidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB06712NilvadipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB06751DrotaverineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB09231BenidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB09232CilnidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB09236LacidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB09238ManidipineVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB11633IsavuconazoleVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational
HgeneCACNA1CQ13936DB00653Magnesium sulfateVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|investigational|vet_approved
HgeneCACNA1CQ13936DB01373CalciumVoltage-dependent L-type calcium channel subunit alpha-1Csmall moleculeapproved|nutraceutical

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RelatedDiseases for CACNA1C_MNAT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA1CC0005586Bipolar Disorder8CTD_human;PSYGENET
HgeneCACNA1CC1832916Timothy syndrome6CTD_human;ORPHANET;UNIPROT
HgeneCACNA1CC0011570Mental Depression5PSYGENET
HgeneCACNA1CC0011581Depressive disorder5PSYGENET
HgeneCACNA1CC0041696Unipolar Depression5PSYGENET
HgeneCACNA1CC0525045Mood Disorders5PSYGENET
HgeneCACNA1CC1269683Major Depressive Disorder5PSYGENET
HgeneCACNA1CC0036341Schizophrenia4PSYGENET
HgeneCACNA1CC0033975Psychotic Disorders3PSYGENET
HgeneCACNA1CC0178417Anhedonia2PSYGENET
HgeneCACNA1CC0003811Cardiac Arrhythmia1CTD_human
HgeneCACNA1CC0004352Autistic Disorder1CTD_human
HgeneCACNA1CC0020538Hypertensive disease1CTD_human
HgeneCACNA1CC0020615Hypoglycemia1CTD_human
HgeneCACNA1CC0021051Immunologic Deficiency Syndromes1CTD_human
HgeneCACNA1CC0206762Limb Deformities, Congenital1CTD_human
HgeneCACNA1CC0349204Nonorganic psychosis1PSYGENET
HgeneCACNA1CC2678478Brugada Syndrome 31CTD_human;UNIPROT