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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:KARS-WDR59 (FusionGDB2 ID:41177)

Fusion Gene Summary for KARS-WDR59

check button Fusion gene summary
Fusion gene informationFusion gene name: KARS-WDR59
Fusion gene ID: 41177
HgeneTgene
Gene symbol

KARS

WDR59

Gene ID

3735

79726

Gene namelysyl-tRNA synthetase 1WD repeat domain 59
SynonymsCMTRIB|DFNB89|KARS|KARS2|KRSCDW12|FP977|p90-120
Cytomap

16q23.1

16q23.1

Type of geneprotein-codingprotein-coding
Descriptionlysine--tRNA ligaselysRSlysine tRNA ligaseGATOR complex protein WDR59CDw12 antigenWD repeat-containing protein 59
Modification date2020031820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000302445, ENST00000319410, 
ENST00000568378, 
ENST00000562331, 
ENST00000262144, 
Fusion gene scores* DoF score5 X 7 X 4=1408 X 8 X 3=192
# samples 69
** MAII scorelog2(6/140*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KARS [Title/Abstract] AND WDR59 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointWDR59(74982417)-KARS(75670445), # samples:3
KARS(75681476)-WDR59(74999720), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneKARS

GO:0000187

activation of MAPK activity

15851690

HgeneKARS

GO:0002741

positive regulation of cytokine secretion involved in immune response

15851690

HgeneKARS

GO:0006430

lysyl-tRNA aminoacylation

9278442|10952987|23159739

HgeneKARS

GO:0008285

negative regulation of cell proliferation

15851690

HgeneKARS

GO:0010759

positive regulation of macrophage chemotaxis

15851690

HgeneKARS

GO:0015966

diadenosine tetraphosphate biosynthetic process

23159739

HgeneKARS

GO:0033209

tumor necrosis factor-mediated signaling pathway

15851690

HgeneKARS

GO:0043032

positive regulation of macrophage activation

15851690

HgeneKARS

GO:0070374

positive regulation of ERK1 and ERK2 cascade

15851690

HgeneKARS

GO:1900017

positive regulation of cytokine production involved in inflammatory response

15851690

HgeneKARS

GO:1900745

positive regulation of p38MAPK cascade

15851690

HgeneKARS

GO:1905050

positive regulation of metallopeptidase activity

15851690


check buttonFusion gene breakpoints across KARS (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 WDR59 (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
ChimerDB4BRCATCGA-AN-A0AJ-01AKARSchr16

75681476

-WDR59chr16

74999720

-


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Fusion Gene ORF analysis for KARS-WDR59

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-5UTRENST00000302445ENST00000562331KARSchr16

75681476

-WDR59chr16

74999720

-
5UTR-3CDSENST00000319410ENST00000262144KARSchr16

75681476

-WDR59chr16

74999720

-
5UTR-3CDSENST00000568378ENST00000262144KARSchr16

75681476

-WDR59chr16

74999720

-
5UTR-5UTRENST00000319410ENST00000562331KARSchr16

75681476

-WDR59chr16

74999720

-
5UTR-5UTRENST00000568378ENST00000562331KARSchr16

75681476

-WDR59chr16

74999720

-
In-frameENST00000302445ENST00000262144KARSchr16

75681476

-WDR59chr16

74999720

-

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)
ENST00000302445KARSchr1675681476-ENST00000262144WDR59chr1674999720-3612102182972984

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
ENST00000302445ENST00000262144KARSchr1675681476-WDR59chr1674999720-0.000553660.99944633

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Fusion Genomic Features for KARS-WDR59


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 KARS-WDR59


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/chr16:74982417/chr16:75670445)
- 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
..
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}.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
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026393_49418975.0DomainRWD
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026103_14318975.0RepeatNote=WD 2
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026146_18518975.0RepeatNote=WD 3
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026189_22918975.0RepeatNote=WD 4
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026232_27618975.0RepeatNote=WD 5
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026278_31818975.0RepeatNote=WD 6
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026319_36218975.0RepeatNote=WD 7
TgeneWDR59chr16:75681476chr16:74999720ENST0000026214402657_9818975.0RepeatNote=WD 1
TgeneWDR59chr16:75681476chr16:74999720ENST00000262144026668_70618975.0RepeatNote=WD 8

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKARSchr16:75681476chr16:74999720ENST00000302445-114323_32520598.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000302445-114331_33220598.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000302445-114494_49520598.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000302445-114550_55320598.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000319410-115323_3250626.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000319410-115331_3320626.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000319410-115494_4950626.0Nucleotide bindingATP
HgeneKARSchr16:75681476chr16:74999720ENST00000319410-115550_5530626.0Nucleotide bindingATP


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Fusion Gene Sequence for KARS-WDR59


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.
>41177_41177_1_KARS-WDR59_KARS_chr16_75681476_ENST00000302445_WDR59_chr16_74999720_ENST00000262144_length(transcript)=3612nt_BP=102nt
GTACTATCCTCCTTACTTTTGGGTCGGGCCCTCCGGGAAGATGGCGGCCGTGCAGGCGGCCGAGGTGAAAGTGGATGGCAGCGAGCCGAA
ACTGAGCAAGAAGCAACTGCGATGTCTGTGGACTGTCTTGGGCAGCATGCAGTGCTTTCTGGCCGCAGATTCTTATACATCGTCAATCTA
GATGCCCCTTTCGAAGGTCACCGAAAGATCTCTCGCCAGAGCAAATGGGACATTGGAGCTGTGCAGTGGAATCCTCATGACAGCTTTGCA
CACTATTTTGCGGCTTCGAGTAACCAACGAGTAGACCTTTACAAGTGGAAAGACGGCAGTGGGGAAGTTGGCACAACCTTACAAGGCCAC
ACTCGTGTCATCAGCGACTTGGACTGGGCGGTGTTTGAGCCTGACCTCCTGGTTACCAGCTCTGTGGACACCTACATCTACATTTGGGAT
ATCAAAGACACAAGGAAACCTACTGTTGCACTGTCTGCTGTTGCGGGTGCCTCCCAGGTCAAATGGAATAAAAAAAATGCTAACTGCCTT
GCCACCAGCCATGACGGCGATGTGCGGATATGGGATAAGAGGAAACCCAGTACAGCAGTGGAATATCTAGCCGCCCACCTCTCCAAAATC
CATGGCCTGGACTGGCACCCAGACAGCGAGCACATTCTTGCTACCTCCAGTCAAGACAATTCTGTGAAGTTCTGGGATTACCGCCAGCCT
CGGAAATACCTCAATATTCTTCCTTGCCAGGTGCCTGTCTGGAAGGCCAGATACACACCTTTCAGCAATGGATTGGTGACTGTGATGGTT
CCCCAGCTGCGGAGGGAAAACAGCCTTCTCCTGTGGAATGTCTTTGACTTGAACACCCCAGTCCACACCTTCGTGGGGCATGATGATGTG
GTCCTGGAGTTCCAGTGGAGGAAGCAGAAGGAAGGGTCCAAGGACTATCAACTGGTGACGTGGTCCCGGGATCAGACCTTGAGAATGTGG
CGGGTGGATTCCCAGATGCAGAGGCTTTGTGCAAATGACATATTAGATGGTGTTGATGAGTTCATTGAGAGTATTTCCCTTCTGCCGGAA
CCTGAGAAGACCCTGCACACTGAAGATACAGATCACCAGCACACTGCAAGCCATGGGGAGGAAGAAGCCCTAAAAGAAGATCCCCCTAGA
AATCTCCTGGAAGAGAGGAAATCAGATCAACTGGGGCTGCCTCAGACCTTGCAGCAGGAATTCTCCCTGATCAATGTGCAAATCCGGAAT
GTCAATGTGGAGATGGATGCGGCAGACAGGAGCTGCACAGTGTCTGTGCACTGCAGCAACCATCGTGTCAAGATGCTGGTGAAGTTCCCT
GCACAGTACCCAAACAACGCCGCCCCTTCCTTCCAGTTTATTAACCCCACAACCATCACATCCACCATGAAAGCTAAGCTGCTGAAGATC
CTGAAGGACACAGCCCTGCAGAAAGTGAAGCGTGGCCAGAGCTGCCTGGAGCCCTGCCTGCGCCAGCTCGTCTCCTGCCTTGAGTCCTTT
GTGAACCAGGAAGACAGCGCTTCCAGCAACCCGTTTGCACTCCCCAACTCTGTCACTCCCCCCTTACCGACGTTTGCGCGGGTGACCACG
GCTTACGGGTCGTACCAGGACGCCAACATTCCCTTTCCTAGGACTTCTGGGGCCAGGTTCTGCGGAGCAGGTTACCTGGTATATTTCACA
AGGCCCATGACAATGCATCGGGCGGTGTCTCCCACAGAGCCTACTCCGAGATCTCTCTCAGCCTTGTCTGCTTATCACACTGGCTTGATC
GCGCCCATGAAGATCCGCACAGAGGCCCCTGGGAACCTTCGTTTATACAGTGGGAGCCCCACTCGCAGCGAGAAAGAGCAGGTCTCCATC
AGCTCCTTCTACTACAAGGAGCGGAAATCAAGACGATGGAAAAGTAAGCGTGAGGGATCAGACTCTGGCAATCGACAGATCAAGGCTGCT
GGGAAAGTCATCATCCAGGATATTGCTTGCCTCCTGCCTGTTCACAAATCGCTGGGAGAGCTGTACATATTGAATGTGAATGATATTCAG
GAAACATGTCAGAAGAATGCCGCCTCTGCCTTGCTCGTTGGAAGAAAGGATCTTGTCCAGGTTTGGTCGCTGGCTACGGTAGCTACAGAT
CTTTGCCTTGGTCCGAAATCTGACCCAGATTTGGAAACACCCTGGGCTCGACATCCATTTGGGCGGCAGCTGCTGGAGTCCCTGTTGGCT
CACTATTGCCGGCTCCGGGATGTTCAGACACTGGCGATGCTCTGTAGCGTGTTTGAAGCCCAGTCTCGGCCTCAGGGGCTACCAAACCCC
TTTGGGCCTTTTCCTAACCGTTCTTCTAATCTTGTGGTGTCCCATAGTCGATATCCTAGCTTTACCTCTTCTGGTTCCTGCTCCAGTATG
TCAGACCCAGGGCTCAACACTGGCGGCTGGAACATAGCGGGAAGAGAGGCAGAGCACTTGTCCTCCCCTTGGGGAGAATCCTCACCAGAA
GAGCTCCGCTTTGGGAGTCTGACCTACAGTGATCCCCGTGAGCGAGAACGCGACCAGCATGATAAAAATAAAAGGCTCCTGGACCCCGCC
AATACCCAGCAATTTGATGACTTTAAGAAATGCTATGGGGAAATCCTCTACCGTTGGGGTCTGAGAGAGAAGCGAGCTGAAGTGTTGAAG
TTTGTCTCCTGTCCTCCTGACCCTCACAAAGGGATCGAGTTCGGCGTGTACTGCAGCCACTGCCGGAGTGAGGTCCGTGGCACGCAGTGT
GCCATCTGCAAAGGCTTCACGTTCCAGTGTGCCATCTGTCACGTGGCTGTGCGGGGATCGTCCAATTTCTGCCTGACCTGTGGGCACGGT
GGCCACACCAGCCACATGATGGAGTGGTTTCGGACCCAGGAGGTGTGTCCCACCGGGTGTGGGTGCCACTGCCTGCTTGAAAGCACTTTC
TGAACCTACAGAAGTTGGGTATTGTCTGAAATCCCAGAGGACCCATAAGTGCCGGTGACAAGCTGTCTGTCAGGGGAGAGGCTCCAGAAC
CTGGGTTCGTCCCCAGTGAGACCGGAGGATGATCCCCCAAGGACTGCGCAGCATCAGCTCTTGGTGGGCCTCTGCCTTCTCTTCTGTTTG
GCCACCTGGTGTGGATGTCACTGTGTGAAGATAAGGACAGAAGTGCAGAGCTGCGCTTTGTGTGTTGTCTATGTCGGCTGAGCTACCAAG
GTGGAAGTTTTCATGGAGAAAAGCACCTGGCTCCAGGGCCAGTGTTACAGTGTTACCCTGTAAGGTGTTAGCCTTAAACCACCGAGCAGC
GTTCTCTTGATGCCAGTGCAGAGACCAGAGTCAGATGCCCGAGGACAGTGGGTAGGAATTTCATCAACAAATGGACCTATGGCATCATGG
CTTTAGAAGCTGGTACATTTACTGAGCTGATGGACAGTGGCCTTCTAAAATATGACACTTAAATTGTAAATATGCACTGTACTTAAGGAT
TCTTAAGATGTATTTTTTTGTTATTTCTCCTCCAGCTGCTATCCCTTGGCTAATAAAATTCTAGTAATTTGAAAAAAAAAAAAAAGAGAG

>41177_41177_1_KARS-WDR59_KARS_chr16_75681476_ENST00000302445_WDR59_chr16_74999720_ENST00000262144_length(amino acids)=984AA_BP=28
MGRALREDGGRAGGRGESGWQRAETEQEATAMSVDCLGQHAVLSGRRFLYIVNLDAPFEGHRKISRQSKWDIGAVQWNPHDSFAHYFAAS
SNQRVDLYKWKDGSGEVGTTLQGHTRVISDLDWAVFEPDLLVTSSVDTYIYIWDIKDTRKPTVALSAVAGASQVKWNKKNANCLATSHDG
DVRIWDKRKPSTAVEYLAAHLSKIHGLDWHPDSEHILATSSQDNSVKFWDYRQPRKYLNILPCQVPVWKARYTPFSNGLVTVMVPQLRRE
NSLLLWNVFDLNTPVHTFVGHDDVVLEFQWRKQKEGSKDYQLVTWSRDQTLRMWRVDSQMQRLCANDILDGVDEFIESISLLPEPEKTLH
TEDTDHQHTASHGEEEALKEDPPRNLLEERKSDQLGLPQTLQQEFSLINVQIRNVNVEMDAADRSCTVSVHCSNHRVKMLVKFPAQYPNN
AAPSFQFINPTTITSTMKAKLLKILKDTALQKVKRGQSCLEPCLRQLVSCLESFVNQEDSASSNPFALPNSVTPPLPTFARVTTAYGSYQ
DANIPFPRTSGARFCGAGYLVYFTRPMTMHRAVSPTEPTPRSLSALSAYHTGLIAPMKIRTEAPGNLRLYSGSPTRSEKEQVSISSFYYK
ERKSRRWKSKREGSDSGNRQIKAAGKVIIQDIACLLPVHKSLGELYILNVNDIQETCQKNAASALLVGRKDLVQVWSLATVATDLCLGPK
SDPDLETPWARHPFGRQLLESLLAHYCRLRDVQTLAMLCSVFEAQSRPQGLPNPFGPFPNRSSNLVVSHSRYPSFTSSGSCSSMSDPGLN
TGGWNIAGREAEHLSSPWGESSPEELRFGSLTYSDPRERERDQHDKNKRLLDPANTQQFDDFKKCYGEILYRWGLREKRAEVLKFVSCPP

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Fusion Gene PPI Analysis for KARS-WDR59


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 KARS-WDR59


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 KARS-WDR59


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