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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: 22708

FusionGeneSummary for MTA3_KCNMA1

check button Fusion gene summary
Fusion gene informationFusion gene name: MTA3_KCNMA1
Fusion gene ID: 22708
HgeneTgene
Gene symbol

MTA3

KCNMA1

Gene ID

57504

3778

Gene namemetastasis associated 1 family member 3potassium calcium-activated channel subfamily M alpha 1
Synonyms-BKTM|CADEDS|KCa1.1|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1
Cytomap

2p21

10q22.3

Type of geneprotein-codingprotein-coding
Descriptionmetastasis-associated protein MTA3metastasis associated gene family, member 3calcium-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 HSLOpo
Modification date2018052320180523
UniProtAcc

Q9BTC8

Q12791

Ensembl transtripts involved in fusion geneENST00000405592, ENST00000406652, 
ENST00000407270, ENST00000406911, 
ENST00000405094, ENST00000472767, 
ENST00000404771, ENST00000372440, 
ENST00000372443, ENST00000286628, 
ENST00000286627, ENST00000354353, 
ENST00000404857, ENST00000406533, 
ENST00000484507, ENST00000481070, 
ENST00000480683, 
Fusion gene scores* DoF score3 X 3 X 2=1811 X 10 X 6=660
# samples 313
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MTA3 [Title/Abstract] AND KCNMA1 [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
TgeneKCNMA1

GO:0001666

response to hypoxia

15528406

TgeneKCNMA1

GO:0006813

potassium ion transport

7573516|7877450|11245614|12388065|17706472|18458941

TgeneKCNMA1

GO:0006970

response to osmotic stress

10840032|12388065

TgeneKCNMA1

GO:0030007

cellular potassium ion homeostasis

11245614

TgeneKCNMA1

GO:0034465

response to carbon monoxide

15528406

TgeneKCNMA1

GO:0042391

regulation of membrane potential

7877450|7993625

TgeneKCNMA1

GO:0045794

negative regulation of cell volume

12388065

TgeneKCNMA1

GO:0051592

response to calcium ion

12388065|18458941

TgeneKCNMA1

GO:0060073

micturition

11641143

TgeneKCNMA1

GO:0060083

smooth muscle contraction involved in micturition

11641143


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
ChiTaRS3.1M85843MTA3chr2

42952029

+KCNMA1chr10

78762955

-
* 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-intronENST00000405592ENST00000404771MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000372440MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000372443MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000286628MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000286627MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000354353MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000404857MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000406533MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000484507MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000481070MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405592ENST00000480683MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000404771MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000372440MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000372443MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000286628MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000286627MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000354353MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000404857MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000406533MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000484507MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000481070MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406652ENST00000480683MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000404771MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000372440MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000372443MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000286628MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000286627MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000354353MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000404857MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000406533MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000484507MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000481070MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000407270ENST00000480683MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000404771MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000372440MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000372443MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000286628MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000286627MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000354353MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000404857MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000406533MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000484507MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000481070MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000406911ENST00000480683MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000404771MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000372440MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000372443MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000286628MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000286627MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000354353MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000404857MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000406533MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000484507MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000481070MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000405094ENST00000480683MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000404771MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000372440MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000372443MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000286628MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000286627MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000354353MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000404857MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000406533MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000484507MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000481070MTA3chr2

42952029

+KCNMA1chr10

78762955

-
intron-intronENST00000472767ENST00000480683MTA3chr2

42952029

+KCNMA1chr10

78762955

-

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FusionProtFeatures for MTA3_KCNMA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MTA3

Q9BTC8

KCNMA1

Q12791

Plays a role in maintenance of the normal epithelialarchitecture through the repression of SNAI1 transcription in ahistone deacetylase-dependent manner, and thus the regulation ofE-cadherin levels. Contributes to transcriptional repression byBCL6. {ECO:0000269|PubMed:12705869, ECO:0000269|PubMed:15454082}.

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 MTA3_KCNMA1


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 MTA3_KCNMA1


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 MTA3_KCNMA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKCNMA1Q12791DB00356ChlorzoxazoneCalcium-activated potassium channel subunit alpha-1small moleculeapproved
TgeneKCNMA1Q12791DB00436BendroflumethiazideCalcium-activated potassium channel subunit alpha-1small moleculeapproved
TgeneKCNMA1Q12791DB01003Cromoglicic acidCalcium-activated potassium channel subunit alpha-1small moleculeapproved
TgeneKCNMA1Q12791DB01119DiazoxideCalcium-activated potassium channel subunit alpha-1small moleculeapproved
TgeneKCNMA1Q12791DB09089TrimebutineCalcium-activated potassium channel subunit alpha-1small moleculeapproved
TgeneKCNMA1Q12791DB00774HydroflumethiazideCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational
TgeneKCNMA1Q12791DB04209DequaliniumCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational
TgeneKCNMA1Q12791DB00721ProcaineCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational|vet_approved
TgeneKCNMA1Q12791DB01110MiconazoleCalcium-activated potassium channel subunit alpha-1small moleculeapproved|investigational|vet_approved
TgeneKCNMA1Q12791DB00999HydrochlorothiazideCalcium-activated potassium channel subunit alpha-1small moleculeapproved|vet_approved
TgeneKCNMA1Q12791DB01159HalothaneCalcium-activated potassium channel subunit alpha-1small moleculeapproved|vet_approved

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RelatedDiseases for MTA3_KCNMA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKCNMA1C0004352Autistic Disorder1CTD_human
TgeneKCNMA1C0005944Metabolic Bone Disorder1CTD_human
TgeneKCNMA1C0007134Renal Cell Carcinoma1CTD_human
TgeneKCNMA1C0019284Diaphragmatic Hernia1CTD_human
TgeneKCNMA1C0028756Obesity, Morbid1CTD_human
TgeneKCNMA1C0038220Status Epilepticus1CTD_human
TgeneKCNMA1C1836173Generalized Epilepsy and Paroxysmal Dyskinesia1CTD_human;ORPHANET;UNIPROT