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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: 18295

FusionGeneSummary for KCNMA1_FARP1

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNMA1_FARP1
Fusion gene ID: 18295
HgeneTgene
Gene symbol

KCNMA1

FARP1

Gene ID

3778

10160

Gene namepotassium calcium-activated channel subfamily M alpha 1FERM, ARH/RhoGEF and pleckstrin domain protein 1
SynonymsBKTM|CADEDS|KCa1.1|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1CDEP|FARP1-IT1|PLEKHC2|PPP1R75
Cytomap

10q22.3

13q32.2

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 HSLOpoFERM, ARHGEF and pleckstrin domain-containing protein 1FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)FERM, RhoGEF and pleckstrin domain-containing protein 1PH domain-containing family C member 2chondrocyte-derived ezrin-li
Modification date2018052320180519
UniProtAcc

Q12791

Q9Y4F1

Ensembl transtripts involved in fusion geneENST00000404771, ENST00000372440, 
ENST00000372443, ENST00000286628, 
ENST00000286627, ENST00000354353, 
ENST00000404857, ENST00000406533, 
ENST00000484507, ENST00000481070, 
ENST00000480683, 		ENST00000595437, 
ENST00000376586, ENST00000319562, 
ENST00000376581, ENST00000593990, 
Fusion gene scores* DoF score15 X 12 X 8=14409 X 10 X 5=450
# samples 1710
** MAII scorelog2(17/1440*10)=-3.08246216019197
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNMA1 [Title/Abstract] AND FARP1 [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

TgeneFARP1

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGARVPRADTCGA-HC-7209-01AKCNMA1chr10

79397023

-FARP1chr13

98865474

+
* 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-5UTRENST00000404771ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404771ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404771ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404771ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000404771ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372440ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372440ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372440ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372440ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000372440ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372443ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372443ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372443ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000372443ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000372443ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286628ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286628ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286628ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286628ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000286628ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286627ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286627ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286627ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000286627ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000286627ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000354353ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000354353ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000354353ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000354353ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000354353ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404857ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404857ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404857ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000404857ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000404857ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000406533ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000406533ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000406533ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000406533ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000406533ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
intron-5UTRENST00000484507ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
intron-5UTRENST00000484507ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
intron-5UTRENST00000484507ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
intron-5UTRENST00000484507ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
intron-intronENST00000484507ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000481070ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000481070ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000481070ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000481070ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000481070ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000480683ENST00000595437KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000480683ENST00000376586KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000480683ENST00000319562KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-5UTRENST00000480683ENST00000376581KCNMA1chr10

79397023

-FARP1chr13

98865474

+
5CDS-intronENST00000480683ENST00000593990KCNMA1chr10

79397023

-FARP1chr13

98865474

+

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FusionProtFeatures for KCNMA1_FARP1


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

Q12791

FARP1

Q9Y4F1

Functions as guanine nucleotide exchange factor forRAC1. May play a role in semaphorin signaling. Plays a role in theassembly and disassembly of dendritic filopodia, the formation ofdendritic spines, regulation of dendrite length and ultimately theformation of synapses (By similarity). {ECO:0000250}.

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_FARP1


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_FARP1


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
KCNMA1ALB, CAV1, CAV2, CAV3, ACTA2, ACTG2, TBXA2R, KCNMA1, KCNMB1, EED, PTPRAFARP1ELAVL1, NTRK1, CAPZA2, MYO1C, PDGFRA, AKAP1, SYNPO, GAR1, GEMIN7, BRD2, PTPRG, SNRPN, SDC1, SDC2, DCAF8, TRIM25


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_FARP1


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_FARP1


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
TgeneFARP1C0236969Substance-Related Disorders1CTD_human