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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: 18302

FusionGeneSummary for KCNMA1_SMARCA2

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNMA1_SMARCA2
Fusion gene ID: 18302
HgeneTgene
Gene symbol

KCNMA1

SMARCA2

Gene ID

3778

6595

Gene namepotassium calcium-activated channel subfamily M alpha 1SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SynonymsBKTM|CADEDS|KCa1.1|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1BAF190|BRM|NCBRS|SNF2|SNF2L2|SNF2LA|SWI2|Sth1p|hBRM|hSNF2a
Cytomap

10q22.3

9p24.3

Type of geneprotein-codingprotein-coding
Descriptioncalcium-activated potassium channel subunit alpha-1uncharacterized proteinBK channel alpha subunitBKCA alpha subunitbig potassium channel alpha subunitcalcium-activated potassium channel, subfamily M subunit alpha-1k(VCA)alphamaxi-K channel HSLOpoprobable global transcription activator SNF2L2ATP-dependent helicase SMARCA2BAF190BBRG1-associated factor 190BSNF2-alphaSNF2/SWI2-like protein 2SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2brahma homologglobal transcr
Modification date2018052320180519
UniProtAcc

Q12791

P51531

Ensembl transtripts involved in fusion geneENST00000404771, ENST00000372440, 
ENST00000372443, ENST00000286628, 
ENST00000286627, ENST00000354353, 
ENST00000404857, ENST00000406533, 
ENST00000484507, ENST00000481070, 
ENST00000480683, 
ENST00000357248, 
ENST00000349721, ENST00000382203, 
ENST00000382194, ENST00000491574, 
ENST00000324954, ENST00000302401, 
ENST00000382186, ENST00000382185, 
Fusion gene scores* DoF score15 X 12 X 8=144011 X 11 X 5=605
# samples 1712
** MAII scorelog2(17/1440*10)=-3.08246216019197
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/605*10)=-2.33390073655344
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNMA1 [Title/Abstract] AND SMARCA2 [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
HgeneKCNMA1

GO:0001666

response to hypoxia

15528406

HgeneKCNMA1

GO:0006813

potassium ion transport

7573516|7877450|11245614|12388065|17706472|18458941

HgeneKCNMA1

GO:0006970

response to osmotic stress

10840032|12388065

HgeneKCNMA1

GO:0030007

cellular potassium ion homeostasis

11245614

HgeneKCNMA1

GO:0034465

response to carbon monoxide

15528406

HgeneKCNMA1

GO:0042391

regulation of membrane potential

7877450|7993625

HgeneKCNMA1

GO:0045794

negative regulation of cell volume

12388065

HgeneKCNMA1

GO:0051592

response to calcium ion

12388065|18458941

HgeneKCNMA1

GO:0060073

micturition

11641143

HgeneKCNMA1

GO:0060083

smooth muscle contraction involved in micturition

11641143

TgeneSMARCA2

GO:0008285

negative regulation of cell proliferation

14660596

TgeneSMARCA2

GO:0045892

negative regulation of transcription, DNA-templated

12065415

TgeneSMARCA2

GO:0045893

positive regulation of transcription, DNA-templated

17984088

TgeneSMARCA2

GO:0045944

positive regulation of transcription by RNA polymerase II

15774904


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
ChiTaRS3.1BE772448KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
* 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-intronENST00000404771ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404771ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372440ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000372443ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286628ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000286627ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000354353ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000404857ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000406533ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000484507ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000481070ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000357248KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000349721KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000382203KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000382194KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000491574KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000324954KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000302401KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000382186KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+
intron-intronENST00000480683ENST00000382185KCNMA1chr10

78646615

+SMARCA2chr9

2051132

+

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FusionProtFeatures for KCNMA1_SMARCA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNMA1

Q12791

SMARCA2

P51531

Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. Binds DNA non-specifically(PubMed:22952240, PubMed:26601204). Belongs to the neuralprogenitors-specific chromatin remodeling complex (npBAF complex)and the neuron-specific chromatin remodeling complex (nBAFcomplex). During neural development a switch from astem/progenitor to a postmitotic chromatin remodeling mechanismoccurs as neurons exit the cell cycle and become committed totheir adult state. The transition from proliferating neuralstem/progenitor cells to postmitotic neurons requires a switch insubunit composition of the npBAF and nBAF complexes. As neuralprogenitors exit mitosis and differentiate into neurons, npBAFcomplexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45Bor DPF3/BAF45C subunits in neuron-specific complexes (nBAF). ThenpBAF complex is essential for the self-renewal/proliferativecapacity of the multipotent neural stem cells. The nBAF complexalong with CREST plays a role regulating the activity of genesessential for dendrite growth (By similarity).{ECO:0000250|UniProtKB:Q6DIC0, ECO:0000303|PubMed:22952240,ECO:0000303|PubMed:26601204}.

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 KCNMA1_SMARCA2


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 KCNMA1_SMARCA2


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


Top

RelatedDrugs for KCNMA1_SMARCA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNMA1Q12791DB00356ChlorzoxazoneCalcium-activated potassium channel subunit alpha-1small moleculeapproved
HgeneKCNMA1Q12791DB00436BendroflumethiazideCalcium-activated potassium channel subunit alpha-1small moleculeapproved
HgeneKCNMA1Q12791DB01003Cromoglicic acidCalcium-activated potassium channel subunit alpha-1small moleculeapproved
HgeneKCNMA1Q12791DB01119DiazoxideCalcium-activated potassium channel subunit alpha-1small moleculeapproved
HgeneKCNMA1Q12791DB09089TrimebutineCalcium-activated potassium channel subunit alpha-1small moleculeapproved
HgeneKCNMA1Q12791DB00774HydroflumethiazideCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational
HgeneKCNMA1Q12791DB04209DequaliniumCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational
HgeneKCNMA1Q12791DB00721ProcaineCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational|vet_approved
HgeneKCNMA1Q12791DB01110MiconazoleCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational|vet_approved
HgeneKCNMA1Q12791DB00999HydrochlorothiazideCalcium-activated potassium channel subunit alpha-1small moleculeapproved|vet_approved
HgeneKCNMA1Q12791DB01159HalothaneCalcium-activated potassium channel subunit alpha-1small moleculeapproved|vet_approved

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RelatedDiseases for KCNMA1_SMARCA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNMA1C0004352Autistic Disorder1CTD_human
HgeneKCNMA1C0005944Metabolic Bone Disorder1CTD_human
HgeneKCNMA1C0007134Renal Cell Carcinoma1CTD_human
HgeneKCNMA1C0019284Diaphragmatic Hernia1CTD_human
HgeneKCNMA1C0028756Obesity, Morbid1CTD_human
HgeneKCNMA1C0038220Status Epilepticus1CTD_human
HgeneKCNMA1C1836173Generalized Epilepsy and Paroxysmal Dyskinesia1CTD_human;ORPHANET;UNIPROT
TgeneSMARCA2C0036341Schizophrenia4PSYGENET
TgeneSMARCA2C1303073Nicolaides Baraitser syndrome2CTD_human;ORPHANET;UNIPROT
TgeneSMARCA2C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneSMARCA2C0265338Coffin-Siris syndrome1CTD_human
TgeneSMARCA2C0345967Malignant mesothelioma1CTD_human