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Fusion gene ID: 18284 |
FusionGeneSummary for KCNK2_TMBIM6 |
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Fusion gene information | Fusion gene name: KCNK2_TMBIM6 | Fusion gene ID: 18284 | Hgene | Tgene | Gene symbol | KCNK2 | TMBIM6 | Gene ID | 3776 | 7009 |
Gene name | potassium two pore domain channel subfamily K member 2 | transmembrane BAX inhibitor motif containing 6 | |
Synonyms | K2p2.1|TPKC1|TREK|TREK-1|TREK1|hTREK-1c|hTREK-1e | BAXI1|BI-1|TEGT | |
Cytomap | 1q41 | 12q13.12 | |
Type of gene | protein-coding | protein-coding | |
Description | potassium 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 k | bax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O95069 | P55061 | |
Ensembl transtripts involved in fusion gene | ENST00000391895, ENST00000391894, ENST00000444842, | ENST00000548589, ENST00000552699, ENST00000267115, ENST00000549385, ENST00000423828, ENST00000395006, ENST00000547798, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 14 X 4=560 |
# samples | 1 | 17 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | TMBIM6 | GO:0010523 | negative regulation of calcium ion transport into cytosol | 26582200 |
Tgene | TMBIM6 | GO:0032091 | negative regulation of protein binding | 19328063 |
Tgene | TMBIM6 | GO:0060702 | negative regulation of endoribonuclease activity | 19328063 |
Tgene | TMBIM6 | GO:1902065 | response to L-glutamate | 21075086 |
Tgene | TMBIM6 | GO:1902236 | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 21075086 |
Tgene | TMBIM6 | GO:1903298 | negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway | 21075086 |
Tgene | TMBIM6 | GO:2001234 | negative regulation of apoptotic signaling pathway | 21075086 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | CF129966 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000391895 | ENST00000548589 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391895 | ENST00000552699 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391895 | ENST00000267115 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391895 | ENST00000549385 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391895 | ENST00000423828 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391895 | ENST00000395006 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391895 | ENST00000547798 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-intron | ENST00000391894 | ENST00000548589 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391894 | ENST00000552699 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391894 | ENST00000267115 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391894 | ENST00000549385 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391894 | ENST00000423828 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391894 | ENST00000395006 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
intron-3UTR | ENST00000391894 | ENST00000547798 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-intron | ENST00000444842 | ENST00000548589 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-3UTR | ENST00000444842 | ENST00000552699 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-3UTR | ENST00000444842 | ENST00000267115 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-3UTR | ENST00000444842 | ENST00000549385 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-3UTR | ENST00000444842 | ENST00000423828 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-3UTR | ENST00000444842 | ENST00000395006 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
3UTR-3UTR | ENST00000444842 | ENST00000547798 | KCNK2 | chr1 | 215408852 | + | TMBIM6 | chr12 | 50156706 | + |
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FusionProtFeatures for KCNK2_TMBIM6 |
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Hgene | Tgene |
KCNK2 | TMBIM6 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for KCNK2_TMBIM6 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KCNK2_TMBIM6 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | KCNK2 | O95069 | DB04855 | Dronedarone | Potassium channel subfamily K member 2 | small molecule | approved |
Hgene | KCNK2 | O95069 | DB00204 | Dofetilide | Potassium channel subfamily K member 2 | small molecule | approved|investigational |
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RelatedDiseases for KCNK2_TMBIM6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KCNK2 | C0011581 | Depressive disorder | 6 | CTD_human;PSYGENET |
Hgene | KCNK2 | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | KCNK2 | C0178417 | Anhedonia | 1 | PSYGENET |