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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: 18284

FusionGeneSummary for KCNK2_TMBIM6

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNK2_TMBIM6
Fusion gene ID: 18284
HgeneTgene
Gene symbol

KCNK2

TMBIM6

Gene ID

3776

7009

Gene namepotassium two pore domain channel subfamily K member 2transmembrane BAX inhibitor motif containing 6
SynonymsK2p2.1|TPKC1|TREK|TREK-1|TREK1|hTREK-1c|hTREK-1eBAXI1|BI-1|TEGT
Cytomap

1q41

12q13.12

Type of geneprotein-codingprotein-coding
Descriptionpotassium channel subfamily K member 2K2P2.1 potassium channelTREK-1 K(+) channel subunitTWIK-related potassium channel 1outward rectifying potassium channel protein TREK-1potassium channel subfamily k member 2 variant 1potassium channel subfamily kbax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6
Modification date2018052320180519
UniProtAcc

O95069

P55061

Ensembl transtripts involved in fusion geneENST00000391895, ENST00000391894, 
ENST00000444842, 
ENST00000548589, 
ENST00000552699, ENST00000267115, 
ENST00000549385, ENST00000423828, 
ENST00000395006, ENST00000547798, 
Fusion gene scores* DoF score1 X 1 X 1=110 X 14 X 4=560
# samples 117
** MAII scorelog2(1/1*10)=3.32192809488736log2(17/560*10)=-1.71989208080726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNK2 [Title/Abstract] AND TMBIM6 [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
TgeneTMBIM6

GO:0010523

negative regulation of calcium ion transport into cytosol

26582200

TgeneTMBIM6

GO:0032091

negative regulation of protein binding

19328063

TgeneTMBIM6

GO:0060702

negative regulation of endoribonuclease activity

19328063

TgeneTMBIM6

GO:1902065

response to L-glutamate

21075086

TgeneTMBIM6

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

21075086

TgeneTMBIM6

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

21075086

TgeneTMBIM6

GO:2001234

negative regulation of apoptotic signaling pathway

21075086


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
ChiTaRS3.1CF129966KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
* 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-intronENST00000391895ENST00000548589KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391895ENST00000552699KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391895ENST00000267115KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391895ENST00000549385KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391895ENST00000423828KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391895ENST00000395006KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391895ENST00000547798KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-intronENST00000391894ENST00000548589KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391894ENST00000552699KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391894ENST00000267115KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391894ENST00000549385KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391894ENST00000423828KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391894ENST00000395006KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
intron-3UTRENST00000391894ENST00000547798KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-intronENST00000444842ENST00000548589KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-3UTRENST00000444842ENST00000552699KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-3UTRENST00000444842ENST00000267115KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-3UTRENST00000444842ENST00000549385KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-3UTRENST00000444842ENST00000423828KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-3UTRENST00000444842ENST00000395006KCNK2chr1

215408852

+TMBIM6chr12

50156706

+
3UTR-3UTRENST00000444842ENST00000547798KCNK2chr1

215408852

+TMBIM6chr12

50156706

+

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FusionProtFeatures for KCNK2_TMBIM6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNK2

O95069

TMBIM6

P55061

Suppressor of apoptosis (PubMed:21075086). Modulatesunfolded protein response signaling (PubMed:21075086). ModulatesER calcium homeostasis by acting as a calcium-leak channel(PubMed:22128171). Negatively regulates autophagy andautophagosome formation, especially during periods of nutrientdeprivation, and reduces cell survival during starvation (Bysimilarity). {ECO:0000250|UniProtKB:Q9D2C7,ECO:0000269|PubMed:21075086, ECO:0000269|PubMed:22128171}.

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 KCNK2_TMBIM6


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 KCNK2_TMBIM6


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


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RelatedDrugs for KCNK2_TMBIM6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNK2O95069DB04855DronedaronePotassium channel subfamily K member 2small moleculeapproved
HgeneKCNK2O95069DB00204DofetilidePotassium channel subfamily K member 2small moleculeapproved|investigational

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RelatedDiseases for KCNK2_TMBIM6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNK2C0011581Depressive disorder6CTD_human;PSYGENET
HgeneKCNK2C0011570Mental Depression5PSYGENET
HgeneKCNK2C0178417Anhedonia1PSYGENET