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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: 18314

FusionGeneSummary for KCNN1_GATA6

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNN1_GATA6
Fusion gene ID: 18314
HgeneTgene
Gene symbol

KCNN1

GATA6

Gene ID

3780

2627

Gene namepotassium calcium-activated channel subfamily N member 1GATA binding protein 6
SynonymsKCa2.1|SK1|SKCA1|hSK1-
Cytomap

19p13.11

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionsmall conductance calcium-activated potassium channel protein 1potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1smalltranscription factor GATA-6GATA-binding factor 6
Modification date2018052320180523
UniProtAcc

Q92952

Q92908

Ensembl transtripts involved in fusion geneENST00000222249, ENST00000594192, 
ENST00000269216, ENST00000581694, 
Fusion gene scores* DoF score2 X 3 X 2=122 X 1 X 2=4
# samples 22
** MAII scorelog2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: KCNN1 [Title/Abstract] AND GATA6 [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
TgeneGATA6

GO:0000122

negative regulation of transcription by RNA polymerase II

18177748

TgeneGATA6

GO:0006366

transcription by RNA polymerase II

19666519

TgeneGATA6

GO:0045766

positive regulation of angiogenesis

21127043

TgeneGATA6

GO:0045892

negative regulation of transcription, DNA-templated

18177748

TgeneGATA6

GO:0060575

intestinal epithelial cell differentiation

9566909

TgeneGATA6

GO:0070848

response to growth factor

21127043

TgeneGATA6

GO:0071158

positive regulation of cell cycle arrest

9593712

TgeneGATA6

GO:0071456

cellular response to hypoxia

21127043

TgeneGATA6

GO:0110024

positive regulation of cardiac muscle myoblast proliferation

25068583


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
TCGARVUCECTCGA-AJ-A2QM-01AKCNN1chr19

18085996

+GATA6chr18

19780619

+
* 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-shitENST00000222249ENST00000269216KCNN1chr19

18085996

+GATA6chr18

19780619

+
In-frameENST00000222249ENST00000581694KCNN1chr19

18085996

+GATA6chr18

19780619

+
intron-3CDSENST00000594192ENST00000269216KCNN1chr19

18085996

+GATA6chr18

19780619

+
intron-3CDSENST00000594192ENST00000581694KCNN1chr19

18085996

+GATA6chr18

19780619

+

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FusionProtFeatures for KCNN1_GATA6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNN1

Q92952

GATA6

Q92908

Forms a voltage-independent potassium channel activatedby intracellular calcium. Activation is followed by membranehyperpolarization. Thought to regulate neuronal excitability bycontributing to the slow component of synapticafterhyperpolarization. The channel is blocked by apamin (Bysimilarity). {ECO:0000250}. Transcriptional activator (PubMed:19666519,PubMed:27756709, PubMed:22750565, PubMed:22824924). RegulatesSEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulationspecifically in the gastric epithelium (PubMed:9315713). Mayregulate genes that protect epithelial cells from bacterialinfection (PubMed:16968778). Involved in bone morphogeneticprotein (BMP)-mediated cardiac-specific gene expression (Bysimilarity). Binds to BMP response element (BMPRE) DNA sequenceswithin cardiac activating regions (By similarity).{ECO:0000250|UniProtKB:Q61169, ECO:0000269|PubMed:16968778,ECO:0000269|PubMed:19666519, ECO:0000269|PubMed:22750565,ECO:0000269|PubMed:22824924, ECO:0000269|PubMed:27756709,ECO:0000269|PubMed:9315713}.

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 KCNN1_GATA6


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.
>In-frame_KCNN1_ENST00000222249_chr19_18085996_+_GATA6_ENST00000581694_chr18_19780619_+_222aa
MNSHSYNGSVGRPLGSGPGALGRDPPDPEAGHPPQPPHSPGLQVVVAKSEPARPSPGSPRGQPQDQDDDEDDEEDEAGRQRASGKPSNVG
HRLGHRRALFEKRKRLSDTALIFGMFGIVVMVTETELSWGVYTKESLYSFALKCLISLSTAILLGLVVLYHAREIQAGAPVMTGAGESTN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_KCNN1_ENST00000222249_chr19_18085996_+_GATA6_ENST00000581694_chr18_19780619_+_666nt
ATGAACAGCCACAGCTACAATGGCAGCGTGGGGCGGCCGCTGGGCAGCGGGCCGGGCGCCCTGGGACGAGACCCTCCGGACCCTGAGGCC
GGCCACCCCCCACAACCCCCGCACAGCCCGGGCCTCCAGGTGGTAGTGGCCAAGAGTGAGCCAGCCCGGCCCTCACCCGGCAGCCCCCGG
GGGCAGCCCCAGGACCAGGACGATGACGAGGATGATGAGGAAGATGAGGCCGGCAGGCAGAGAGCCTCGGGGAAACCCTCAAATGTGGGC
CACCGCCTGGGCCACCGGCGGGCGCTCTTCGAGAAGCGGAAGCGCCTCAGCGACTATGCCCTCATTTTCGGCATGTTTGGCATCGTCGTC
ATGGTGACGGAGACCGAGCTGTCCTGGGGGGTGTACACCAAGGAGTCTCTGTACTCATTCGCACTCAAATGCCTCATCAGCCTCTCCACG
GCCATCCTGCTGGGTCTCGTTGTCCTCTACCATGCCCGGGAGATCCAGGCGGGTGCCCCGGTGATGACTGGTGCGGGAGAGAGCACCAAT
CCCGAGAACAGCGAGCTCAAGTATTCGGGTCAAGATGGGCTCTACATAGGCGTCAGTCTCGCCTCGCCGGCCGAAGTCACGTCCTCCGTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_KCNN1_ENST00000222249_chr19_18085996_+_GATA6_ENST00000581694_chr18_19780619_+_1042nt
GAGGAACACGGTGGTCTGAGCTGGAGCCACGCTTTCTGTTGGAGGGGGCAGCTGAAGGAGAACAGCAAGACATATCCGGCGGCCCTACGG
ACTCGGAGAGCTGGAGGGACCCCGGAGATCTCAAAGGGACAGGAAAGGCAGCAGCAGCCACCCTCTCTCCCAGTCAAGTGGTCACCAGCA
GGACTGAAGGGGACAGCCCCTTTGCAGTGGCTCGGCGAGGAGACCCCTGCACCCTAGGGTCAGTGCAGGAGCCCAGCCGCTGAGCCATGC
CGGGCCCCGGGCGGCCTGCAGCGAGCCCAACCCCTGCACCCAGGTAGTCATGAACAGCCACAGCTACAATGGCAGCGTGGGGCGGCCGCT
GGGCAGCGGGCCGGGCGCCCTGGGACGAGACCCTCCGGACCCTGAGGCCGGCCACCCCCCACAACCCCCGCACAGCCCGGGCCTCCAGGT
GGTAGTGGCCAAGAGTGAGCCAGCCCGGCCCTCACCCGGCAGCCCCCGGGGGCAGCCCCAGGACCAGGACGATGACGAGGATGATGAGGA
AGATGAGGCCGGCAGGCAGAGAGCCTCGGGGAAACCCTCAAATGTGGGCCACCGCCTGGGCCACCGGCGGGCGCTCTTCGAGAAGCGGAA
GCGCCTCAGCGACTATGCCCTCATTTTCGGCATGTTTGGCATCGTCGTCATGGTGACGGAGACCGAGCTGTCCTGGGGGGTGTACACCAA
GGAGTCTCTGTACTCATTCGCACTCAAATGCCTCATCAGCCTCTCCACGGCCATCCTGCTGGGTCTCGTTGTCCTCTACCATGCCCGGGA
GATCCAGGCGGGTGCCCCGGTGATGACTGGTGCGGGAGAGAGCACCAATCCCGAGAACAGCGAGCTCAAGTATTCGGGTCAAGATGGGCT
CTACATAGGCGTCAGTCTCGCCTCGCCGGCCGAAGTCACGTCCTCCGTGCGACCGGATTCCTGGTGCGCCCTGGCCCTGGCCTGAGCCCA


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FusionGenePPI for KCNN1_GATA6


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
KCNN1GATA6EP300, KLF2, SP1, CDK9, KPNA3, KRAS, EWSR1


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 KCNN1_GATA6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNN1Q92952DB01110MiconazoleSmall conductance calcium-activated potassium channel protein 1small moleculeapproved|investigational|vet_approved

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RelatedDiseases for KCNN1_GATA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGATA6C0019284Diaphragmatic Hernia1CTD_human
TgeneGATA6C0024121Lung Neoplasms1CTD_human
TgeneGATA6C1857586CONOTRUNCAL HEART MALFORMATIONS (disorder)1UNIPROT
TgeneGATA6C3280939ATRIOVENTRICULAR SEPTAL DEFECT 51UNIPROT
TgeneGATA6C3280943ATRIAL SEPTAL DEFECT 91UNIPROT
TgeneGATA6C4012454HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES1UNIPROT