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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: 8252

FusionGeneSummary for CPM_KCNMA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CPM_KCNMA1
Fusion gene ID: 8252
HgeneTgene
Gene symbol

CPM

KCNMA1

Gene ID

1368

3778

Gene namecarboxypeptidase Mpotassium calcium-activated channel subfamily M alpha 1
Synonyms-BKTM|CADEDS|KCa1.1|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1
Cytomap

12q15

10q22.3

Type of geneprotein-codingprotein-coding
Descriptioncarboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase Bcalcium-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

P14384

Q12791

Ensembl transtripts involved in fusion geneENST00000546373, ENST00000551568, 
ENST00000338356, ENST00000549691, 
ENST00000404771, ENST00000372440, 
ENST00000372443, ENST00000286628, 
ENST00000286627, ENST00000354353, 
ENST00000404857, ENST00000406533, 
ENST00000484507, ENST00000481070, 
ENST00000480683, 
Fusion gene scores* DoF score12 X 5 X 6=36011 X 10 X 6=660
# samples 1213
** MAII scorelog2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: CPM [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
TCGARVBRCATCGA-E2-A10C-01ACPMchr12

69326458

-KCNMA1chr10

78669854

-
* 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
Frame-shitENST00000546373ENST00000404771CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000372440CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000372443CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000286628CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000286627CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000354353CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000404857CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000546373ENST00000406533CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000546373ENST00000484507CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000546373ENST00000481070CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000546373ENST00000480683CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000404771CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000372440CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000372443CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000286628CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000286627CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000354353CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000404857CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000551568ENST00000406533CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000551568ENST00000484507CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000551568ENST00000481070CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000551568ENST00000480683CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000404771CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000372440CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000372443CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000286628CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000286627CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000354353CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000404857CPMchr12

69326458

-KCNMA1chr10

78669854

-
Frame-shitENST00000338356ENST00000406533CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000338356ENST00000484507CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000338356ENST00000481070CPMchr12

69326458

-KCNMA1chr10

78669854

-
5CDS-intronENST00000338356ENST00000480683CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000404771CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000372440CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000372443CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000286628CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000286627CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000354353CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000404857CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-3CDSENST00000549691ENST00000406533CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-intronENST00000549691ENST00000484507CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-intronENST00000549691ENST00000481070CPMchr12

69326458

-KCNMA1chr10

78669854

-
intron-intronENST00000549691ENST00000480683CPMchr12

69326458

-KCNMA1chr10

78669854

-

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FusionProtFeatures for CPM_KCNMA1


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

P14384

KCNMA1

Q12791

Specifically removes C-terminal basic residues (Arg orLys) from peptides and proteins. It is believed to play importantroles in the control of peptide hormone and growth factor activityat the cell surface, and in the membrane-localized degradation ofextracellular proteins. {ECO:0000269|PubMed:12457462}.

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 CPM_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 CPM_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
CPMELAVL1, CAPZA2, DBN1, FLNA, GAK, MYH9, PPP1CC, RAB7A, PDLIM7, ATP6AP2, SYNPO, MAPRE1, GOLT1B, LIMA1, ANLN, MYO19, ZSCAN12, ULBP1, FTH1, TBC1D22B, GTPBP3KCNMA1ALB, CAV1, CAV2, CAV3, ACTA2, ACTG2, TBXA2R, KCNMA1, KCNMB1, EED, PTPRA


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 CPM_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 CPM_KCNMA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCPMC0014175Endometriosis1CTD_human
HgeneCPMC0037116Silicosis1CTD_human
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