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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:KCNQ3-LRRC6 (FusionGDB2 ID:41562)

Fusion Gene Summary for KCNQ3-LRRC6

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNQ3-LRRC6
Fusion gene ID: 41562
HgeneTgene
Gene symbol

KCNQ3

LRRC6

Gene ID

3786

23639

Gene namepotassium voltage-gated channel subfamily Q member 3leucine rich repeat containing 6
SynonymsBFNC2|EBN2|KV7.3CILD19|LRTP|TSLRP|tilB
Cytomap

8q24.22

8q24.22

Type of geneprotein-codingprotein-coding
Descriptionpotassium voltage-gated channel subfamily KQT member 3potassium channel subunit alpha KvLQT3potassium channel, voltage gated KQT-like subfamily Q, member 3potassium channel, voltage-gated, subfamily Q, member 3potassium voltage-gated channel, KQT-likeprotein tilB homologprotein TILB homologseahorsetestis-specific leucine-rich repeat protein
Modification date2020031320200314
UniProtAcc.

Q6ZNQ3

Ensembl transtripts involved in fusion geneENST00000388996, ENST00000519445, 
ENST00000521134, 
ENST00000520446, 
ENST00000518642, ENST00000519595, 
ENST00000250173, 
Fusion gene scores* DoF score13 X 10 X 5=6507 X 5 X 7=245
# samples 149
** MAII scorelog2(14/650*10)=-2.21501289097085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KCNQ3 [Title/Abstract] AND LRRC6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKCNQ3(133492394)-LRRC6(133596026), # samples:2
Anticipated loss of major functional domain due to fusion event.KCNQ3-LRRC6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KCNQ3-LRRC6 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KCNQ3-LRRC6 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneKCNQ3

GO:0071805

potassium ion transmembrane transport

11159685|27564677


check buttonFusion gene breakpoints across KCNQ3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across LRRC6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LUSCTCGA-63-A5MB-01AKCNQ3chr8

133492394

-LRRC6chr8

133596026

-


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Fusion Gene ORF analysis for KCNQ3-LRRC6

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-intronENST00000388996ENST00000520446KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
5CDS-intronENST00000519445ENST00000520446KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
Frame-shiftENST00000388996ENST00000518642KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
Frame-shiftENST00000388996ENST00000519595KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
Frame-shiftENST00000519445ENST00000518642KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
Frame-shiftENST00000519445ENST00000519595KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
In-frameENST00000388996ENST00000250173KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
In-frameENST00000519445ENST00000250173KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
intron-3CDSENST00000521134ENST00000250173KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
intron-3CDSENST00000521134ENST00000518642KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
intron-3CDSENST00000521134ENST00000519595KCNQ3chr8

133492394

-LRRC6chr8

133596026

-
intron-intronENST00000521134ENST00000520446KCNQ3chr8

133492394

-LRRC6chr8

133596026

-

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)
ENST00000388996KCNQ3chr8133492394-ENST00000250173LRRC6chr8133596026-117380738700220
ENST00000519445KCNQ3chr8133492394-ENST00000250173LRRC6chr8133596026-79843246435129

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
ENST00000388996ENST00000250173KCNQ3chr8133492394-LRRC6chr8133596026-0.06835460.9316454
ENST00000519445ENST00000250173KCNQ3chr8133492394-LRRC6chr8133596026-0.0421267560.9578733

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Fusion Genomic Features for KCNQ3-LRRC6


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.
genomic feature

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 KCNQ3-LRRC6


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:133492394/chr8:133596026)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.LRRC6

Q6ZNQ3

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-11513_24128873.0Compositional biasNote=Poly-Gly
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-1151_121128873.0Topological domainCytoplasmic

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-11513_240753.0Compositional biasNote=Poly-Gly
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115304_324128873.0IntramembranePore-forming%3B Name%3DSegment H5
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115304_3240753.0IntramembranePore-forming%3B Name%3DSegment H5
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115316_321128873.0MotifSelectivity filter
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115316_3210753.0MotifSelectivity filter
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115143_152128873.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115174_196128873.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115218_225128873.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115248_261128873.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115283_303128873.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115325_330128873.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115352_872128873.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115143_1520753.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115174_1960753.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-1151_1210753.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115218_2250753.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115248_2610753.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115283_3030753.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115325_3300753.0Topological domainExtracellular
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115352_8720753.0Topological domainCytoplasmic
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115122_142128873.0TransmembraneHelical%3B Name%3DSegment S1
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115153_173128873.0TransmembraneHelical%3B Name%3DSegment S2
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115197_217128873.0TransmembraneHelical%3B Name%3DSegment S3
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115226_247128873.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115262_282128873.0TransmembraneHelical%3B Name%3DSegment S5
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000388996-115331_351128873.0TransmembraneHelical%3B Name%3DSegment S6
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115122_1420753.0TransmembraneHelical%3B Name%3DSegment S1
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115153_1730753.0TransmembraneHelical%3B Name%3DSegment S2
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115197_2170753.0TransmembraneHelical%3B Name%3DSegment S3
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115226_2470753.0TransmembraneHelical%3B Voltage-sensor%3B Name%3DSegment S4
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115262_2820753.0TransmembraneHelical%3B Name%3DSegment S5
HgeneKCNQ3chr8:133492394chr8:133596026ENST00000521134-115331_3510753.0TransmembraneHelical%3B Name%3DSegment S6
TgeneLRRC6chr8:133492394chr8:133596026ENST00000250173912178_204380467.0Coiled coilOntology_term=ECO:0000255
TgeneLRRC6chr8:133492394chr8:133596026ENST00000519595912178_204381467.0Coiled coilOntology_term=ECO:0000255
TgeneLRRC6chr8:133492394chr8:133596026ENST00000250173912281_286380467.0Compositional biasNote=Poly-Lys
TgeneLRRC6chr8:133492394chr8:133596026ENST00000519595912281_286381467.0Compositional biasNote=Poly-Lys
TgeneLRRC6chr8:133492394chr8:133596026ENST00000250173912123_161380467.0DomainNote=LRRCT
TgeneLRRC6chr8:133492394chr8:133596026ENST00000250173912301_396380467.0DomainCS
TgeneLRRC6chr8:133492394chr8:133596026ENST00000519595912123_161381467.0DomainNote=LRRCT
TgeneLRRC6chr8:133492394chr8:133596026ENST00000519595912301_396381467.0DomainCS
TgeneLRRC6chr8:133492394chr8:133596026ENST0000025017391222_43380467.0RepeatNote=LRR 1
TgeneLRRC6chr8:133492394chr8:133596026ENST0000025017391245_66380467.0RepeatNote=LRR 2
TgeneLRRC6chr8:133492394chr8:133596026ENST0000025017391267_88380467.0RepeatNote=LRR 3
TgeneLRRC6chr8:133492394chr8:133596026ENST0000025017391289_110380467.0RepeatNote=LRR 4
TgeneLRRC6chr8:133492394chr8:133596026ENST0000051959591222_43381467.0RepeatNote=LRR 1
TgeneLRRC6chr8:133492394chr8:133596026ENST0000051959591245_66381467.0RepeatNote=LRR 2
TgeneLRRC6chr8:133492394chr8:133596026ENST0000051959591267_88381467.0RepeatNote=LRR 3
TgeneLRRC6chr8:133492394chr8:133596026ENST0000051959591289_110381467.0RepeatNote=LRR 4


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Fusion Gene Sequence for KCNQ3-LRRC6


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.
>41562_41562_1_KCNQ3-LRRC6_KCNQ3_chr8_133492394_ENST00000388996_LRRC6_chr8_133596026_ENST00000250173_length(transcript)=1173nt_BP=807nt
GGCTGGCACCGGGCTTGTAAATAAACTGCGATGCTGTCTTGGGCTCGCCGGCCTGGGTGCCGCCGCCGCCGCCGCCGCCCCGGAGCGCCG
GTTCCAGGCTCCCGCCGCCGCGCGCCCTAGCGCCTCCGCGCCAGCCTCGCGCGCCCTCCCAGCTTCTCCGCAGCCCCCGGCCCGCGACCC
TCGGGGTCCTGCGGCTGACCCGCGCGGGATGTGACCCCCTGACCCCCTGCCTGGCCTCCCCTGCCCCCCAGGGGGCCCGCCTTTGCCTGC
TTTTGGGGGGGGGTGGGGAGGGGCGCGCGGATCATGGCATTGGAGTTCCCGGGCTTGCAGCCGCCGCCGCCGCCTCGTTCACGCACCCCG
AGCGCCCCTTCTTCCCAGAGCAGCAGCGGAGAAGGCGAAGCGGCCGGCGGGGGCGAGGCAGATGGGGCTCAAGGCGCGCAGGGCGGCGGG
GGCGGCTGGCGGCGGCGGCGACGGGGGCGGCGGAGGCGGCGGGGCGGCTAACCCAGCCGGAGGGGACGCGGCGGCGGCCGGCGACGAGGA
GCGGAAAGTGGGGCTGGCGCCCGGCGACGTGGAGCAAGTCACCTTGGCGCTCGGGGCCGGAGCCGACAAAGACGGGACCCTGCTGCTGGA
GGGCGGCGGCCGCGACGAGGGGCAGCGGAGGACCCCGCAGGGCATCGGGCTCCTGGCCAAGACCCCGCTGAGCCGCCCAGTCAAGAGAAA
CAACGCCAAGTACCGGCGCATCCAAACTTTGATCTACGACGCCCTGGAGAGACCGCGGGGCTGGGCGCTGCTTTACCACGCGTTGGTGTA
GGAGAAGTAATCACAGGTGGTCAGCGAGCATTCAAATCTATGAAAACTACCTCGGACAGGAGCAGAGAACAAACAAATACAAGAAGCAAG
CACATGGAGAAACTAGAAGTAGACCCTAGCAAGCACTCATTCCCTGATGTGACTAACATAGTTCAAGAGAAAAAACACACACCCAGAAGA
CGACCTGAACCCAAAATTATACCAAGTGAGGAAGACCCAACCTTTGAAGACAACCCTGAAGTGCCTCCGCTGATTTGAAACATCTGGCTG
CGTTGCCATTGGCTGAGACCCACCAGGTCCAGTTTTGGTTGGTGTAGAGACCATATGCATATTATTCCTGGGATAAACACAGAGTTATTT

>41562_41562_1_KCNQ3-LRRC6_KCNQ3_chr8_133492394_ENST00000388996_LRRC6_chr8_133596026_ENST00000250173_length(amino acids)=220AA_BP=
MGSPAWVPPPPPPPRSAGSRLPPPRALAPPRQPRAPSQLLRSPRPATLGVLRLTRAGCDPLTPCLASPAPQGARLCLLLGGGGEGRADHG
IGVPGLAAAAAASFTHPERPFFPEQQRRRRSGRRGRGRWGSRRAGRRGRLAAAATGAAEAAGRLTQPEGTRRRPATRSGKWGWRPATWSK

--------------------------------------------------------------
>41562_41562_2_KCNQ3-LRRC6_KCNQ3_chr8_133492394_ENST00000519445_LRRC6_chr8_133596026_ENST00000250173_length(transcript)=798nt_BP=432nt
CAGAGCAGCAGCGGAGAAGGCGAAGCGGCCGGCGGGGGCGAGGCAGATGGGGCTCAAGGCGCGCAGGGCGGCGGGGGCGGCTGGCGGCGG
CGGCGACGGGGGCGGCGGAGGCGGCGGGGCGGCTAACCCAGCCGGAGGGGACGCGGCGGCGGCCGGCGACGAGGAGCGGAAAGTGGGGCT
GGCGCCCGGCGACGTGGAGCAAGTCACCTTGGCGCTCGGGGCCGGAGCCGACAAAGACGGGACCCTGCTGCTGGAGGGCGGCGGCCGCGA
CGAGGGGCAGCGGAGGACCCCGCAGGGCATCGGGCTCCTGGCCAAGACCCCGCTGAGCCGCCCAGTCAAGAGAAACAACGCCAAGTACCG
GCGCATCCAAACTTTGATCTACGACGCCCTGGAGAGACCGCGGGGCTGGGCGCTGCTTTACCACGCGTTGGTGTAGGAGAAGTAATCACA
GGTGGTCAGCGAGCATTCAAATCTATGAAAACTACCTCGGACAGGAGCAGAGAACAAACAAATACAAGAAGCAAGCACATGGAGAAACTA
GAAGTAGACCCTAGCAAGCACTCATTCCCTGATGTGACTAACATAGTTCAAGAGAAAAAACACACACCCAGAAGACGACCTGAACCCAAA
ATTATACCAAGTGAGGAAGACCCAACCTTTGAAGACAACCCTGAAGTGCCTCCGCTGATTTGAAACATCTGGCTGCGTTGCCATTGGCTG

>41562_41562_2_KCNQ3-LRRC6_KCNQ3_chr8_133492394_ENST00000519445_LRRC6_chr8_133596026_ENST00000250173_length(amino acids)=129AA_BP=
MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLEGGGRDEGQRRTPQGIGLLAK

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

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Fusion Gene PPI Analysis for KCNQ3-LRRC6


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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Related Drugs for KCNQ3-LRRC6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KCNQ3-LRRC6


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