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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KCNK1-UCHL5 (FusionGDB2 ID:41269)

Fusion Gene Summary for KCNK1-UCHL5

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNK1-UCHL5
Fusion gene ID: 41269
HgeneTgene
Gene symbol

KCNK1

UCHL5

Gene ID

3775

51377

Gene namepotassium two pore domain channel subfamily K member 1ubiquitin C-terminal hydrolase L5
SynonymsDPK|HOHO|K2P1|K2p1.1|KCNO1|TWIK-1|TWIK1CGI-70|INO80R|UCH-L5|UCH37
Cytomap

1q42.2

1q31.2

Type of geneprotein-codingprotein-coding
Descriptionpotassium channel subfamily K member 1inward rectifying potassium channel protein TWIK-1potassium channel K2P1potassium channel KCNO1potassium channel, two pore domain subfamily K, member 1potassium inwardly-rectifying channel, subfamily K, member 1ubiquitin carboxyl-terminal hydrolase isozyme L5INO80 complex subunit Rubiquitin C-terminal hydrolase UCH37ubiquitin carboxyl-terminal esterase L5ubiquitin carboxyl-terminal hydrolase L5ubiquitin thioesterase L5
Modification date2020032020200329
UniProtAcc

O00180

.
Ensembl transtripts involved in fusion geneENST00000366621, ENST00000472190, 
ENST00000366620, 		ENST00000367455, 
ENST00000367454, ENST00000367451, 
ENST00000367448, ENST00000367449, 
ENST00000367452, ENST00000530098, 
ENST00000483156, 
Fusion gene scores* DoF score3 X 2 X 3=184 X 3 X 4=48
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNK1 [Title/Abstract] AND UCHL5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKCNK1(233750272)-UCHL5(193020947), # samples:1
Anticipated loss of major functional domain due to fusion event.KCNK1-UCHL5 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KCNK1-UCHL5 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
KCNK1-UCHL5 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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
HgeneKCNK1

GO:0035725

sodium ion transmembrane transport

21653227

HgeneKCNK1

GO:0071805

potassium ion transmembrane transport

21653227|22282804

TgeneUCHL5

GO:0016579

protein deubiquitination

18922472


check buttonFusion gene breakpoints across KCNK1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across UCHL5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-8238-01AKCNK1chr1

233750272

+UCHL5chr1

193020947

-


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Fusion Gene ORF analysis for KCNK1-UCHL5

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
In-frameENST00000366621ENST00000367455KCNK1chr1

233750272

+UCHL5chr1

193020947

-
In-frameENST00000366621ENST00000367454KCNK1chr1

233750272

+UCHL5chr1

193020947

-
In-frameENST00000366621ENST00000367451KCNK1chr1

233750272

+UCHL5chr1

193020947

-
Frame-shiftENST00000366621ENST00000367448KCNK1chr1

233750272

+UCHL5chr1

193020947

-
In-frameENST00000366621ENST00000367449KCNK1chr1

233750272

+UCHL5chr1

193020947

-
5CDS-5UTRENST00000366621ENST00000367452KCNK1chr1

233750272

+UCHL5chr1

193020947

-
5CDS-5UTRENST00000366621ENST00000530098KCNK1chr1

233750272

+UCHL5chr1

193020947

-
5CDS-5UTRENST00000366621ENST00000483156KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000472190ENST00000367455KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000472190ENST00000367454KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000472190ENST00000367451KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000472190ENST00000367448KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000472190ENST00000367449KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-5UTRENST00000472190ENST00000367452KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-5UTRENST00000472190ENST00000530098KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-5UTRENST00000472190ENST00000483156KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000366620ENST00000367455KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000366620ENST00000367454KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000366620ENST00000367451KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000366620ENST00000367448KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-3CDSENST00000366620ENST00000367449KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-5UTRENST00000366620ENST00000367452KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-5UTRENST00000366620ENST00000530098KCNK1chr1

233750272

+UCHL5chr1

193020947

-
intron-5UTRENST00000366620ENST00000483156KCNK1chr1

233750272

+UCHL5chr1

193020947

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000366621KCNK1chr1233750272+ENST00000367455UCHL5chr1193020947-55385231411436431
ENST00000366621KCNK1chr1233750272+ENST00000367454UCHL5chr1193020947-20265231411433430
ENST00000366621KCNK1chr1233750272+ENST00000367451UCHL5chr1193020947-17045231411514457
ENST00000366621KCNK1chr1233750272+ENST00000367449UCHL5chr1193020947-18055231411397418

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000366621ENST00000367455KCNK1chr1233750272+UCHL5chr1193020947-0.0001798670.9998202
ENST00000366621ENST00000367454KCNK1chr1233750272+UCHL5chr1193020947-0.0009288640.9990711
ENST00000366621ENST00000367451KCNK1chr1233750272+UCHL5chr1193020947-0.0035984240.99640155
ENST00000366621ENST00000367449KCNK1chr1233750272+UCHL5chr1193020947-0.0012850930.9987149

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Fusion Genomic Features for KCNK1-UCHL5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for KCNK1-UCHL5


check button Go to

FGviewer for the breakpoints of chr1:233750272-chr1:193020947

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNK1

O00180

.
FUNCTION: Ion channel that contributes to passive transmembrane potassium transport and to the regulation of the resting membrane potential in brain astrocytes, but also in kidney and in other tissues (PubMed:15820677, PubMed:21653227). Forms dimeric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel is selective for K(+) ions at physiological potassium concentrations and at neutral pH, but becomes permeable to Na(+) at subphysiological K(+) levels and upon acidification of the extracellular medium (PubMed:21653227, PubMed:22431633). The homodimer has very low potassium channel activity, when expressed in heterologous systems, and can function as weakly inward rectifying potassium channel (PubMed:8605869, PubMed:8978667, PubMed:15820677, PubMed:21653227, PubMed:22431633, PubMed:23169818, PubMed:25001086). Channel activity is modulated by activation of serotonin receptors (By similarity). Heterodimeric channels containing KCNK1 and KCNK2 have much higher activity, and may represent the predominant form in astrocytes (By similarity). Heterodimeric channels containing KCNK1 and KCNK3 or KCNK9 have much higher activity (PubMed:23169818). Heterodimeric channels formed by KCNK1 and KCNK9 may contribute to halothane-sensitive currents (PubMed:23169818). Mediates outward rectifying potassium currents in dentate gyrus granule cells and contributes to the regulation of their resting membrane potential (By similarity). Contributes to the regulation of action potential firing in dentate gyrus granule cells and down-regulates their intrinsic excitability (By similarity). In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled receptors, such as F2R and CNR1 (By similarity). Required for normal ion and water transport in the kidney (By similarity). Contributes to the regulation of the resting membrane potential of pancreatic beta cells (By similarity). The low channel activity of homodimeric KCNK1 may be due to sumoylation (PubMed:15820677, PubMed:20498050, PubMed:23169818). The low channel activity may be due to rapid internalization from the cell membrane and retention in recycling endosomes (PubMed:19959478). {ECO:0000250|UniProtKB:O08581, ECO:0000250|UniProtKB:Q9Z2T2, ECO:0000269|PubMed:15820677, ECO:0000269|PubMed:17693262, ECO:0000269|PubMed:19959478, ECO:0000269|PubMed:20498050, ECO:0000269|PubMed:21653227, ECO:0000269|PubMed:22282804, ECO:0000269|PubMed:22431633, ECO:0000269|PubMed:23169818, ECO:0000269|PubMed:25001086, ECO:0000269|PubMed:8605869, ECO:0000269|PubMed:8978667}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13104_116118.33333333333333337.0IntramembraneHelical%3B Name%3DPore helix 1
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+131_20118.33333333333333337.0Topological domainCytoplasmic
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+1342_103118.33333333333333337.0Topological domainExtracellular
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+1321_41118.33333333333333337.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13212_224118.33333333333333337.0IntramembraneHelical%3B Name%3DPore helix 2
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13225_231118.33333333333333337.0IntramembraneOntology_term=ECO:0000269
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13117_122118.33333333333333337.0RegionSelectivity filter 1
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13225_230118.33333333333333337.0RegionSelectivity filter 2
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13293_299118.33333333333333337.0RegionImportant for intracellular retention in recycling endosomes
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13123_132118.33333333333333337.0Topological domainExtracellular
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13157_181118.33333333333333337.0Topological domainCytoplasmic
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13203_211118.33333333333333337.0Topological domainExtracellular
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13232_243118.33333333333333337.0Topological domainExtracellular
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13268_336118.33333333333333337.0Topological domainCytoplasmic
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13133_156118.33333333333333337.0TransmembraneHelical
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13182_202118.33333333333333337.0TransmembraneHelical
HgeneKCNK1chr1:233750272chr1:193020947ENST00000366621+13244_267118.33333333333333337.0TransmembraneHelical


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Fusion Gene Sequence for KCNK1-UCHL5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000366621_ENST00000367455_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(transcript)=5538nt_BP=523nt
GCAGGAAGACGGCGCTGCCCGGAGGAGCGGGGCGGGCGGGCGCGCGGGGGAGCGGGCGGCGGGCGGGAGCCAGGCCCGGGCGGGGGCGGG
GGCGGCGGGGCCAGAAGAGGCGGCGGGCCGCGCTCCGGCCGGTCTGCGGCGTTGGCCTTGGCGGCGGCGGTGGAGAAGATGCTGCAGTCC
CTGGCCGGCAGCTCGTGCGTGCGCCTGGTGGAGCGGCACCGCTCGGCCTGGTGCTTCGGCTTCCTGGTGCTGGGCTACTTGCTCTACCTG
GTCTTCGGCGCAGTGGTCTTCTCCTCGGTGGAGCTGCCCTATGAGGACCTGCTGCGCCAGGAGCTGCGCAAGCTGAAGCGACGCTTCTTG
GAGGAGCACGAGTGCCTGTCTGAGCAGCAGCTGGAGCAGTTCCTGGGCCGGGTGCTGGAGGCCAGCAACTACGGCGTGTCGGTGCTCAGC
AACGCCTCGGGCAACTGGAACTGGGACTTCACCTCCGCGCTCTTCTTCGCCAGCACCGTGCTCTCCACCACAGGTTGCCGAGGAGCCCAA
GTAGAAGAAATATGGAGTTTAGAGCCTGAGAATTTTGAAAAATTAAAGCCAGTTCATGGGTTAATTTTTCTTTTCAAGTGGCAGCCAGGA
GAAGAACCAGCAGGCTCTGTGGTTCAGGACTCCCGACTTGACACGATATTTTTTGCTAAGCAGGTAATTAATAATGCTTGTGCTACTCAA
GCCATAGTGAGTGTGTTACTGAACTGTACCCACCAGGATGTCCATTTAGGCGAGACATTATCAGAGTTTAAAGAATTTTCACAAAGTTTT
GATGCAGCTATGAAAGGCTTGGCACTGAGCAATTCAGATGTGATTCGACAAGTACACAACAGTTTCGCCAGACAGCAAATGTTTGAATTT
GATACGAAGACATCAGCAAAAGAAGAAGATGCTTTTCACTTTGTCAGTTATGTTCCTGTTAATGGGAGACTGTATGAATTAGATGGATTA
AGAGAAGGACCGATTGATTTAGGTGCATGCAATCAAGATGATTGGATCAGTGCAGTAAGGCCTGTCATAGAAAAAAGGATACAAAAGTAC
AGTGAAGGTGAAATTCGATTTAATTTAATGGCCATTGTGTCTGACAGAAAAATGATATATGAGCAGAAGATAGCAGAGTTACAAAGACAA
CTTGCAGAGGAGGAACCCATGGATACAGATCAAGGTAATAGTATGTTAAGTGCTATTCAGTCAGAAGTTGCCAAAAATCAGATGCTTATT
GAAGAAGAAGTACAGAAATTAAAAAGATACAAGATTGAGAATATCAGAAGGAAGCATAATTATCTGCCTTTCATTATGGAATTGTTAAAG
ACTTTAGCAGAACACCAGCAGTTAATACCACTAGTAGAAAAGGCAAAAGAAAAACAGAACGCAAAGAAAGCTCAGGAAACCAAATGAAGA
TGTTTTCAGATATGTACACATTTCTGCTTCTGCACATATTTTCATGGAAACCATTATGTATAAAGAACTTAGAGCAACATCCTAATTGGC
TCAGTGCACGTTTGGCAATAGTGCCAGCCTGTCTTGTCTTTAATGCATGGATTCATAAACTTCTTCCCTACCTGCATCATGTGCATGTAG
TGCATATTAAATGAAAGTGATATTAAGAATGCTTTCCCAAATTCCATTATTTGACATTGAGTCTGACAACTGTTAGTTTTCTGGTTGTCT
AACTACCATATGAAGCTAGAAAATGCACAAACGATATTCCTTATCTGTAATTTAAATACTTAAAATTTGCAATTGTCAGATCTTGATTAA
ACTGGTTGTCTTATTTCTTCTCATCATTAACGGAAAAAAAATCAGTATTTCTATCTTTGATATCTAAGTGTTTTGAGGATTTTAAAACTG
AATTTTATCTGCTATACCAGTTATTTGAGAAAGTATGATTTTAATGTAAATCATTTAAAAAGGACAAAAGTATAATTTCCAGTGATTTTC
ACTGCTGTCAGTAGAAAAGTAATAAACATCTCAATTTTATTTTAGTAAATTTTCTTCAAGTGTTTGGGGTTATTTGTTTATGTATTAGAG
AATTGTTTCAGGAAGGTCTGAGTATTATGCTTCAAAGCAAAATTTCAGGTTAAGAAGAAATTGTAAATCTTAAAGAATGTTGGTGTTACT
CTCAATGGAATATTGTTTCAAGCTTGTAAGCTGTGTATAAAAAAACTGGAGGTCTGACAGTTCATGTTATCTGCTTTTTTAAAAAGATGG
TAGTGGTGATGGGGGTCTTTCTATGCCAATTTGAATAAATTTCGTACAGCCTGCAGTTTTCAAGAGCCATATGTAATTTGCTCACAATTG
ATTTTTAAAAATTGATTTGGGAGTTGCTTTGTAATAATCTTCTGCTTCTAATCTTCCTTTGCAAGTCAGACTTTAAAGAAGACTTTATAA
AGCTTTCTTTTTTAAAGGAAGTAACCTACTTTTTTCTTTATCAAGAATATTTCTGAGGTTGATACATGACTTTAACATTTTATTATTTAT
TGTAAAATCAATTTAGCATAATTTATTTTATTAGGGAGAATGTGTACCCATCTTCCAGCTTCAGCACATTTTTAAGGATTGTTTTTAAGC
TTAGTAATTGTGGTATTAAATGACTTAGAACTAATGGAGAAAAACCTGATAGGAAATTGATAGAAAAACGAATGAAATATTTTTCATACA
TAATTTCAGTTGGAGGTAATGGAAAATATGTAGTCTCTCAGTTATTTGTGGGTAAATATGTTTTGCTGTTGATACAGTAATAATTATGGA
GTGTTTTCAAAGCCATGATATAATTTTTAAAAATAGATTTTTAAGGAAGGCTCATCTTGATCTCATTCGTTTATTTCAGCTTAATTTATA
TATTCTTTCCTATTGAGGCTTAAATTTTGTTAAGCAATGTGAGGATTATTGTGGTAAGTTGTATTTAGTAATCAATACAGTGTGATACTG
GCACTAGGATTGACAAATAAAGCAATGGAACAGAAGAGAGAGCCTGAAAACAGATCAACGTTTATATGATCACTTGATTTCGACAAAGGT
GGCAAAACAATTCAACAGAGAAGGAAAGTCTTTTCAACAAATGGAGCCAGAATAGAATAGCTGAATATCCATATAGAAAAAAGTGAACAA
TGACCCCCTACCTCACAAAAATGACTTTGAGATGAATCATAGACCTAAATGTAATATTTTAAAAGTATGAAGCTTTTTAACTGAAAACAG
ATGATATTTTTGTGACTTGGGGGGTTAGCCAAAGGTTTCTTAGGTCACAGAAAGCAGTAACCATAAAAGATCCAAAATTAGAGCTCATCA
GAATTGTCATTGAAAGTGTTAACAAAAGTAATATCAAATGACATTTGAAAAATATCCTTGTAAAATGACTATATTAATAGGTATAAGGAT
TTTTCTTATTAATCTAATAAAATTCCTTAATAGGAATTTCCATAGCTTAAGAGTGGTTTATTTTATCTGCATCTTCTTTGGTGATTGCAA
ATCCCTTGTGATACTTCATGATTACTTCTGTCTGTGAATAAAGAAGTGTGACTTGTCTGGGTGCTATATGTTGCTGGTTTGAAATTAAGT
CATGAAGCTAGAGGGTAGAGAAAATGGAAGAATAAAGAGCAACCCATAAATAGATAAATGCTATTTGGAAAGTTTTTTTTAAATGATATT
TTATAGAAAATCTTGCTCATTTCATATTTAGTCTTTTCTAAAATTTTATTTAATTATTGGGTAGGTGAAGTCGCTTCCATTCTATTTTAA
GCCTTCAAAATAGCCAATTCTAAGGGATGTACTTCTGTTATTATCAACAAAAACCTTGCCAACAGCTGCGGCACTGGCTACTCTCACCTT
ATATGTTTAGTTCCCAAGATAGCTTGCCCTTTTCCGAACAGCAGTCAGCTCGACTGTGCCACTAAAACAGACAAATATTTGCTCGGGAAT
CACAACCACGGGGACTTGCTCCCCCAGTTAGGACCATGGTACATATTTGTGTGTATATTATGGTGTTACATGCAGATTAATACTTTCAAT
TAATCCTCCTAGTTGCCTGTAACGTTAACATTTCAAGATGCATTTAGATATTTTTATCCTGTAGGAGGATTTTGTTTATTTGAGGGAAAA
AAAGGGCTTTTAATGTATTCTCCTCAAAAACCATTTAGAGAAAACAGATAAGTAAAAATAAAATTTAAATTACCATATTTCTATTTACAG
GGATGAGCACATTAACATTTTATGTATTTAGTGATCCTTTTTCCTCATGTGTACACATATGTTTTTGTGTGTTAGTCTTGCTTGCCCTCC
CCATAGTCTGAAATAGTTCTATGAAGTTTATATTATTTTTAAACTTGATCATATACAAATTTTCAGGAAACAAACCACTCTAGCTATTTG
AAGAGGAATGCAGATTTATATTGGGAGTTTTGAAACTACATAGTTTCTTACAAAATCATTGGAAGGTTTGGAGGAGCGGTTTCAAGCTTA
AGTCTCCAGAGATTACTCCCATCCAAACATACAGTATTGGTGTACCTAGGGAACTGCTCACTTTTGCAACAGTCAGGGAGTTCACTGTTG
GAACTATTAATGTTAGAACATGTTGCAGTAGTTGTGTTCAAGGAATGAGGAACCTGCTGTAACACTTAATGACTGTGCACTGGAATGCAG
AAAAGTTAAACCTTCTATGCCTAAATGCCTAAAACAGACAAACTGGATAGTTATATTTTTAGAATGATACTGCGTTTTTTAGAGTAGTAT
GAATTCCTAGATCAGTCAAACATGCATGTTATTTAGTTTGTTCTTTAGTATATTGTTAACTGGCCTAAATCCAATGACTGACATGGTAAA
GATTCACCACTTCTAGCATACTGGGCACTTTTTATTTTTGACTTGATTACATTAACTTTTTGAAAACTATTCAGTGATTTATTCAGCCAA
TCTTATGAGGTACATCTGAGTTGTTCTAGATGCTAGAGGATAGTATAACAGGAAAAAGCCCCTGCTCTCATGGTGAGACAGATAATAAGT
ATGTAATACAACTTTTCAAATAGTAGTATGAATGGTAAAAAAAATAGGGAAAAGGGGTGGGAGGAGCTGAGGTTTGATAGAATGGTCATG
GAAGATCCCATTAATGAGATGTACTTTAAGTAGAGACCTAAATGAAGATAATTTTTTCTCTAGTACTGAACTAGCACTGTACAAGTGGAT
TGCATATAGGCATATAGGCAGAACTTCTCTAGTACTGAACTAACACTGTACAAGTGGATTGCATATAGGCATATAGGCAGAACCAATGTG
CAATAATTAAGAATATTAATTTGCAATCATGTTTGATGGTTAAATGGTTTATTAATGTTGGAGTGTCAATATGAAAATGGGTTGAATAAA
AGATATATGGAAATGCCTAGGACTACTGCTCTATTTACTTTTTAGCTTATCCATATATTTTATGTAATATGCTTCTTTGATTCTTTCTTG

>In-frame_ENST00000366621_ENST00000367455_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(amino acids)=431AA_start in transcript=141_stop in transcript=1436
MALAAAVEKMLQSLAGSSCVRLVERHRSAWCFGFLVLGYLLYLVFGAVVFSSVELPYEDLLRQELRKLKRRFLEEHECLSEQQLEQFLGR
VLEASNYGVSVLSNASGNWNWDFTSALFFASTVLSTTGCRGAQVEEIWSLEPENFEKLKPVHGLIFLFKWQPGEEPAGSVVQDSRLDTIF
FAKQVINNACATQAIVSVLLNCTHQDVHLGETLSEFKEFSQSFDAAMKGLALSNSDVIRQVHNSFARQQMFEFDTKTSAKEEDAFHFVSY
VPVNGRLYELDGLREGPIDLGACNQDDWISAVRPVIEKRIQKYSEGEIRFNLMAIVSDRKMIYEQKIAELQRQLAEEEPMDTDQGNSMLS

--------------------------------------------------------------
>In-frame_ENST00000366621_ENST00000367454_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(transcript)=2026nt_BP=523nt
GCAGGAAGACGGCGCTGCCCGGAGGAGCGGGGCGGGCGGGCGCGCGGGGGAGCGGGCGGCGGGCGGGAGCCAGGCCCGGGCGGGGGCGGG
GGCGGCGGGGCCAGAAGAGGCGGCGGGCCGCGCTCCGGCCGGTCTGCGGCGTTGGCCTTGGCGGCGGCGGTGGAGAAGATGCTGCAGTCC
CTGGCCGGCAGCTCGTGCGTGCGCCTGGTGGAGCGGCACCGCTCGGCCTGGTGCTTCGGCTTCCTGGTGCTGGGCTACTTGCTCTACCTG
GTCTTCGGCGCAGTGGTCTTCTCCTCGGTGGAGCTGCCCTATGAGGACCTGCTGCGCCAGGAGCTGCGCAAGCTGAAGCGACGCTTCTTG
GAGGAGCACGAGTGCCTGTCTGAGCAGCAGCTGGAGCAGTTCCTGGGCCGGGTGCTGGAGGCCAGCAACTACGGCGTGTCGGTGCTCAGC
AACGCCTCGGGCAACTGGAACTGGGACTTCACCTCCGCGCTCTTCTTCGCCAGCACCGTGCTCTCCACCACAGGTTGCCGAGGAGCCCAA
GTAGAAGAAATATGGAGTTTAGAGCCTGAGAATTTTGAAAAATTAAAGCCAGTTCATGGGTTAATTTTTCTTTTCAAGTGGCAGCCAGGA
GAAGAACCAGCAGGCTCTGTGGTTCAGGACTCCCGACTTGACACGATATTTTTTGCTAAGCAGGTAATTAATAATGCTTGTGCTACTCAA
GCCATAGTGAGTGTGTTACTGAACTGTACCCACCAGGATGTCCATTTAGGCGAGACATTATCAGAGTTTAAAGAATTTTCACAAAGTTTT
GATGCAGCTATGAAAGGCTTGGCACTGAGCAATTCAGATGTGATTCGACAAGTACACAACAGTTTCGCCAGACAGCAAATGTTTGAATTT
GATACGAAGACATCAGCAAAAGAAGAAGATGCTTTTCACTTTGTCAGTTATGTTCCTGTTAATGGGAGACTGTATGAATTAGATGGATTA
AGAGAAGGACCGATTGATTTAGGTGCATGCAATCAAGATGATTGGATCAGTGCAGTAAGGCCTGTCATAGAAAAAAGGATACAAAAGTAC
AGTGAAGGTGAAATTCGATTTAATTTAATGGCCATTGTGTCTGACAGAAAAATGATATATGAGCAGAAGATAGCAGAGTTACAAAGACAA
CTTGCAGAGGAACCCATGGATACAGATCAAGGTAATAGTATGTTAAGTGCTATTCAGTCAGAAGTTGCCAAAAATCAGATGCTTATTGAA
GAAGAAGTACAGAAATTAAAAAGATACAAGATTGAGAATATCAGAAGGAAGCATAATTATCTGCCTTTCATTATGGAATTGTTAAAGACT
TTAGCAGAACACCAGCAGTTAATACCACTAGTAGAAAAGGCAAAAGAAAAACAGAACGCAAAGAAAGCTCAGGAAACCAAATGAAGATGT
TTTCAGATATGTACACATTTCTGCTTCTGCACATATTTTCATGGAAACCATTATGTATAAAGAACTTAGAGCAACATCCTAATTGGCTCA
GTGCACGTTTGGCAATAGTGCCAGCCTGTCTTGTCTTTAATGCATGGATTCATAAACTTCTTCCCTACCTGCATCATGTGCATGTAGTGC
ATATTAAATGAAAGTGATATTAAGAATGCTTTCCCAAATTCCATTATTTGACATTGAGTCTGACAACTGTTAGTTTTCTGGTTGTCTAAC
TACCATATGAAGCTAGAAAATGCACAAACGATATTCCTTATCTGTAATTTAAATACTTAAAATTTGCAATTGTCAGATCTTGATTAAACT
GGTTGTCTTATTTCTTCTCATCATTAACGGAAAAAAAATCAGTATTTCTATCTTTGATATCTAAGTGTTTTGAGGATTTTAAAACTGAAT
TTTATCTGCTATACCAGTTATTTGAGAAAGTATGATTTTAATGTAAATCATTTAAAAAGGACAAAAGTATAATTTCCAGTGATTTTCACT

>In-frame_ENST00000366621_ENST00000367454_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(amino acids)=430AA_start in transcript=141_stop in transcript=1433
MALAAAVEKMLQSLAGSSCVRLVERHRSAWCFGFLVLGYLLYLVFGAVVFSSVELPYEDLLRQELRKLKRRFLEEHECLSEQQLEQFLGR
VLEASNYGVSVLSNASGNWNWDFTSALFFASTVLSTTGCRGAQVEEIWSLEPENFEKLKPVHGLIFLFKWQPGEEPAGSVVQDSRLDTIF
FAKQVINNACATQAIVSVLLNCTHQDVHLGETLSEFKEFSQSFDAAMKGLALSNSDVIRQVHNSFARQQMFEFDTKTSAKEEDAFHFVSY
VPVNGRLYELDGLREGPIDLGACNQDDWISAVRPVIEKRIQKYSEGEIRFNLMAIVSDRKMIYEQKIAELQRQLAEEPMDTDQGNSMLSA

--------------------------------------------------------------
>In-frame_ENST00000366621_ENST00000367451_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(transcript)=1704nt_BP=523nt
GCAGGAAGACGGCGCTGCCCGGAGGAGCGGGGCGGGCGGGCGCGCGGGGGAGCGGGCGGCGGGCGGGAGCCAGGCCCGGGCGGGGGCGGG
GGCGGCGGGGCCAGAAGAGGCGGCGGGCCGCGCTCCGGCCGGTCTGCGGCGTTGGCCTTGGCGGCGGCGGTGGAGAAGATGCTGCAGTCC
CTGGCCGGCAGCTCGTGCGTGCGCCTGGTGGAGCGGCACCGCTCGGCCTGGTGCTTCGGCTTCCTGGTGCTGGGCTACTTGCTCTACCTG
GTCTTCGGCGCAGTGGTCTTCTCCTCGGTGGAGCTGCCCTATGAGGACCTGCTGCGCCAGGAGCTGCGCAAGCTGAAGCGACGCTTCTTG
GAGGAGCACGAGTGCCTGTCTGAGCAGCAGCTGGAGCAGTTCCTGGGCCGGGTGCTGGAGGCCAGCAACTACGGCGTGTCGGTGCTCAGC
AACGCCTCGGGCAACTGGAACTGGGACTTCACCTCCGCGCTCTTCTTCGCCAGCACCGTGCTCTCCACCACAGGTTGCCGAGGAGCCCAA
GTAGAAGAAATATGGAGTTTAGAGCCTGAGAATTTTGAAAAATTAAAGCCAGTTCATGGGTTAATTTTTCTTTTCAAGTGGCAGCCAGGA
GAAGAACCAGCAGGCTCTGTGGTTCAGGACTCCCGACTTGACACGATATTTTTTGCTAAGCAGGTAATTAATAATGCTTGTGCTACTCAA
GCCATAGTGAGTGTGTTACTGAACTGTACCCACCAGGATGTCCATTTAGGCGAGACATTATCAGAGTTTAAAGAATTTTCACAAAGTTTT
GATGCAGCTATGAAAGGCTTGGCACTGAGCAATTCAGATGTGATTCGACAAGTACACAACAGTTTCGCCAGACAGCAAATGTTTGAATTT
GATACGAAGACATCAGCAAAAGAAGAAGATGCTTTTCACTTTGTCAGTTATGTTCCTGTTAATGGGAGACTGTATGAATTAGATGGATTA
AGAGAAGGACCGATTGATTTAGGTGCATGCAATCAAGATGATTGGATCAGTGCAGTAAGGCCTGTCATAGAAAAAAGGATACAAAAAGAC
GGGTTTTCACCATGTTGCCCAGGCTGGTCTCAGACTCCTGAGCTCAAGCCATCCGCCTGCCTCGACCTCCCAAAGTGGTACAGTGAAGGT
GAAATTCGATTTAATTTAATGGCCATTGTGTCTGACAGAAAAATGATATATGAGCAGAAGATAGCAGAGTTACAAAGACAACTTGCAGAG
GAACCCATGGATACAGATCAAGGTAATAGTATGTTAAGTGCTATTCAGTCAGAAGTTGCCAAAAATCAGATGCTTATTGAAGAAGAAGTA
CAGAAATTAAAAAGATACAAGATTGAGAATATCAGAAGGAAGCATAATTATCTGCCTTTCATTATGGAATTGTTAAAGACTTTAGCAGAA
CACCAGCAGTTAATACCACTAGTAGAAAAGGCAAAAGAAAAACAGAACGCAAAGAAAGCTCAGGAAACCAAATGAAGATGTTTTCAGATA
TGTACACATTTCTGCTTCTGCACATATTTTCATGGAAACCATTATGTATAAAGAACTTAGAGCAACATCCTAATTGGCTCAGTGCACGTT

>In-frame_ENST00000366621_ENST00000367451_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(amino acids)=457AA_start in transcript=141_stop in transcript=1514
MALAAAVEKMLQSLAGSSCVRLVERHRSAWCFGFLVLGYLLYLVFGAVVFSSVELPYEDLLRQELRKLKRRFLEEHECLSEQQLEQFLGR
VLEASNYGVSVLSNASGNWNWDFTSALFFASTVLSTTGCRGAQVEEIWSLEPENFEKLKPVHGLIFLFKWQPGEEPAGSVVQDSRLDTIF
FAKQVINNACATQAIVSVLLNCTHQDVHLGETLSEFKEFSQSFDAAMKGLALSNSDVIRQVHNSFARQQMFEFDTKTSAKEEDAFHFVSY
VPVNGRLYELDGLREGPIDLGACNQDDWISAVRPVIEKRIQKDGFSPCCPGWSQTPELKPSACLDLPKWYSEGEIRFNLMAIVSDRKMIY
EQKIAELQRQLAEEPMDTDQGNSMLSAIQSEVAKNQMLIEEEVQKLKRYKIENIRRKHNYLPFIMELLKTLAEHQQLIPLVEKAKEKQNA

--------------------------------------------------------------
>In-frame_ENST00000366621_ENST00000367449_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(transcript)=1805nt_BP=523nt
GCAGGAAGACGGCGCTGCCCGGAGGAGCGGGGCGGGCGGGCGCGCGGGGGAGCGGGCGGCGGGCGGGAGCCAGGCCCGGGCGGGGGCGGG
GGCGGCGGGGCCAGAAGAGGCGGCGGGCCGCGCTCCGGCCGGTCTGCGGCGTTGGCCTTGGCGGCGGCGGTGGAGAAGATGCTGCAGTCC
CTGGCCGGCAGCTCGTGCGTGCGCCTGGTGGAGCGGCACCGCTCGGCCTGGTGCTTCGGCTTCCTGGTGCTGGGCTACTTGCTCTACCTG
GTCTTCGGCGCAGTGGTCTTCTCCTCGGTGGAGCTGCCCTATGAGGACCTGCTGCGCCAGGAGCTGCGCAAGCTGAAGCGACGCTTCTTG
GAGGAGCACGAGTGCCTGTCTGAGCAGCAGCTGGAGCAGTTCCTGGGCCGGGTGCTGGAGGCCAGCAACTACGGCGTGTCGGTGCTCAGC
AACGCCTCGGGCAACTGGAACTGGGACTTCACCTCCGCGCTCTTCTTCGCCAGCACCGTGCTCTCCACCACAGGTTGCCGAGGAGCCCAA
GTAGAAGAAATATGGAGTTTAGAGCCTGAGAATTTTGAAAAATTAAAGCCAGTTCATGGGTTAATTTTTCTTTTCAAGTGGCAGCCAGGA
GAAGAACCAGCAGGCTCTGTGGTTCAGGACTCCCGACTTGACACGATATTTTTTGCTAAGCAGGTAATTAATAATGCTTGTGCTACTCAA
GCCATAGTGAGTGTGTTACTGAACTGTACCCACCAGGATGTCCATTTAGGCGAGACATTATCAGAGTTTAAAGAATTTTCACAAAGTTTT
GATGCAGCTATGAAAGGCTTGGCACTGAGCAATTCAGATGTGATTCGACAAGTACACAACAGTTTCGCCAGACAGCAAATGTTTGAATTT
GATACGAAGACATCAGCAAAAGAAGAAGATGCTTTTCACTTTGTCAGTTATGTTCCTGTTAATGGGAGACTGTATGAATTAGATGGATTA
AGAGAAGGACCGATTGATTTAGGTGCATGCAATCAAGATGATTGGATCAGTGCAGTAAGGCCTGTCATAGAAAAAAGGATACAAAAGTAC
AGTGAAGGTGAAATTCGATTTAATTTAATGGCCATTGTGTCTGACAGAAAAATGATATATGAGCAGAAGATAGCAGAGTTACAAAGACAA
CTTGCAGAGGAACCCATGGATACAGATCAAGGTAATAGTATGTTAAGTGCTATTCAGTCAGAAGTTGCCAAAAATCAGATGCTTATTGAA
GAAGAAGTACAGAAATTAAAAAGATACAAGATTGAGAATATCAGAAGGAAGCATAATTATCTGCCTTTCATTATGGAATTGTTAAAGACT
TTAGCAGAACACCAGCAGTTAATACCACTAGTAGAAAAGGGAAAATAGGATAAAAGAACAAGGTGTGAGAAGGAATAGAAGGAAACAAAC
AGGAAAGATATGGCTGCACCATGCAGTGCTACTATATGCTGAGATTCTACAGGATGAGATTTTTGAATAGCTGAGGCAGTTGCCTATAAT
CTGTGATGACATAAAAGTATTTGACCTAAAATCTTTTTATTTGCAAAATAATAAATAAAAAGTGATTCTCCCTCGGCATGGCTATAATGA
ACTTGGTTAGAACCTATAAATGTTTTTGTTATGTGAGACTTTTTAACCGATGAATTCGTTGAATACACACCACATTTAAAAACTGCCTAG
GAGGTAATCCAAAAATATATAGTTATAAAACTTCTTGTATTATGTACCAAATCTCTTTCTTAAAATATAAAATAAAATTATCTAGTTTAA

>In-frame_ENST00000366621_ENST00000367449_TCGA-HU-8238-01A_KCNK1_chr1_233750272_+_UCHL5_chr1_193020947_length(amino acids)=418AA_start in transcript=141_stop in transcript=1397
MALAAAVEKMLQSLAGSSCVRLVERHRSAWCFGFLVLGYLLYLVFGAVVFSSVELPYEDLLRQELRKLKRRFLEEHECLSEQQLEQFLGR
VLEASNYGVSVLSNASGNWNWDFTSALFFASTVLSTTGCRGAQVEEIWSLEPENFEKLKPVHGLIFLFKWQPGEEPAGSVVQDSRLDTIF
FAKQVINNACATQAIVSVLLNCTHQDVHLGETLSEFKEFSQSFDAAMKGLALSNSDVIRQVHNSFARQQMFEFDTKTSAKEEDAFHFVSY
VPVNGRLYELDGLREGPIDLGACNQDDWISAVRPVIEKRIQKYSEGEIRFNLMAIVSDRKMIYEQKIAELQRQLAEEPMDTDQGNSMLSA

--------------------------------------------------------------

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Fusion Gene PPI Analysis for KCNK1-UCHL5


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
TgeneUCHL5chr1:233750272chr1:193020947ENST00000367448012313_32925.333333333333332410.3333333333333ADRM1
TgeneUCHL5chr1:233750272chr1:193020947ENST00000367449011313_32925.333333333333332317.0ADRM1
TgeneUCHL5chr1:233750272chr1:193020947ENST00000367454011313_32925.333333333333332329.0ADRM1
TgeneUCHL5chr1:233750272chr1:193020947ENST00000367455011313_32925.333333333333332330.0ADRM1


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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Related Drugs for KCNK1-UCHL5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNK1O00180DB00308IbutilideInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB00308IbutilideInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB00308IbutilideInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB00308IbutilideInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB01346Quinidine barbiturateInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB01346Quinidine barbiturateInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB01346Quinidine barbiturateInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB01346Quinidine barbiturateInhibitorSmall moleculeApproved
HgeneKCNK1O00180DB00908QuinidineInhibitorSmall moleculeApproved|Investigational
HgeneKCNK1O00180DB00908QuinidineInhibitorSmall moleculeApproved|Investigational
HgeneKCNK1O00180DB00908QuinidineInhibitorSmall moleculeApproved|Investigational
HgeneKCNK1O00180DB00908QuinidineInhibitorSmall moleculeApproved|Investigational

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Related Diseases for KCNK1-UCHL5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNK1C0020507Hyperplasia1CTD_human