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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:DNAJB6-AGT (FusionGDB2 ID:23431)

Fusion Gene Summary for DNAJB6-AGT

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAJB6-AGT
Fusion gene ID: 23431
HgeneTgene
Gene symbol

DNAJB6

AGT

Gene ID

10049

189

Gene nameDnaJ heat shock protein family (Hsp40) member B6alanine--glyoxylate and serine--pyruvate aminotransferase
SynonymsDJ4|DnaJ|HHDJ1|HSJ-2|HSJ2|LGMD1D|LGMD1E|LGMDD1|MRJ|MSJ-1AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6
Cytomap

7q36.3

2q37.3

Type of geneprotein-codingprotein-coding
DescriptiondnaJ homolog subfamily B member 6DnaJ (Hsp40) homolog, subfamily B, member 6DnaJ-like 2 proteinheat shock protein J2serine--pyruvate aminotransferaseL-alanine: glyoxylate aminotransferase 1alanine-glyoxylate aminotransferasehepatic peroxisomal alanine:glyoxylate aminotransferase
Modification date2020032820200313
UniProtAcc

O75190

Q6RW13

Ensembl transtripts involved in fusion geneENST00000429029, ENST00000262177, 
ENST00000452797, ENST00000443280, 
ENST00000494267, 
ENST00000366667, 
Fusion gene scores* DoF score7 X 5 X 7=2452 X 2 X 3=12
# samples 93
** MAII scorelog2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DNAJB6 [Title/Abstract] AND AGT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNAJB6(157178305)-AGT(230841946), # samples:2
Anticipated loss of major functional domain due to fusion event.DNAJB6-AGT seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgeneDNAJB6

GO:0006457

protein folding

11896048

HgeneDNAJB6

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

11896048

HgeneDNAJB6

GO:0045109

intermediate filament organization

10954706

HgeneDNAJB6

GO:0090084

negative regulation of inclusion body assembly

21231916

TgeneAGT

GO:0009436

glyoxylate catabolic process

22198249

TgeneAGT

GO:0019265

glycine biosynthetic process, by transamination of glyoxylate

22198249

TgeneAGT

GO:0019448

L-cysteine catabolic process

18492492

TgeneAGT

GO:0042853

L-alanine catabolic process

17696873|18492492|22198249


check buttonFusion gene breakpoints across DNAJB6 (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 AGT (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-98-A53H-01ADNAJB6chr7

157178305

+AGTchr1

230841946

-
ChimerDB4LUSCTCGA-98-A53HDNAJB6chr7

157178305

+AGTchr1

230841946

-


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Fusion Gene ORF analysis for DNAJB6-AGT

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
Frame-shiftENST00000429029ENST00000366667DNAJB6chr7

157178305

+AGTchr1

230841946

-
In-frameENST00000262177ENST00000366667DNAJB6chr7

157178305

+AGTchr1

230841946

-
In-frameENST00000452797ENST00000366667DNAJB6chr7

157178305

+AGTchr1

230841946

-
intron-3CDSENST00000443280ENST00000366667DNAJB6chr7

157178305

+AGTchr1

230841946

-
intron-3CDSENST00000494267ENST00000366667DNAJB6chr7

157178305

+AGTchr1

230841946

-

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)
ENST00000262177DNAJB6chr7157178305+ENST00000366667AGTchr1230841946-21168962051497430
ENST00000452797DNAJB6chr7157178305+ENST00000366667AGTchr1230841946-19567361921337381

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
ENST00000262177ENST00000366667DNAJB6chr7157178305+AGTchr1230841946-0.0021390630.99786097
ENST00000452797ENST00000366667DNAJB6chr7157178305+AGTchr1230841946-0.0026746230.9973253

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Fusion Genomic Features for DNAJB6-AGT


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 DNAJB6-AGT


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/chr7:157178305/chr1:230841946)
- 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
DNAJB6

O75190

AGT

Q6RW13

FUNCTION: Plays an indispensable role in the organization of KRT8/KRT18 filaments. Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin. Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins. Isoform B but not isoform A inhibits huntingtin aggregation. Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70. Also reduces cellular toxicity and caspase-3 activity. {ECO:0000269|PubMed:10954706, ECO:0000269|PubMed:11896048, ECO:0000269|PubMed:20159555, ECO:0000269|PubMed:22366786, ECO:0000269|PubMed:28233300}.FUNCTION: Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signaling by regulating receptor internalisation as well as mechanism of receptor desensitization such as phosphorylation. Induces also a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity. {ECO:0000269|PubMed:12960423}.

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
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000262177+810155_194230327.0Compositional biasNote=Ser-rich
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000262177+81083_172230327.0Compositional biasNote=Gly/Phe-rich
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000262177+8102_69230327.0DomainJ

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000429029+18155_1940242.0Compositional biasNote=Ser-rich
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000429029+1883_1720242.0Compositional biasNote=Gly/Phe-rich
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000429029+182_690242.0DomainJ


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Fusion Gene Sequence for DNAJB6-AGT


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.
>23431_23431_1_DNAJB6-AGT_DNAJB6_chr7_157178305_ENST00000262177_AGT_chr1_230841946_ENST00000366667_length(transcript)=2116nt_BP=896nt
AGTTGACGCCGCCGTGCCGCCGCCGCGTGACGCATTTCCTGTTTGTTGTTGGAGAAAGGAGAGAAAGGAAAGCGCGAGGAGCCGCCGCCA
CCACCAGCGCAGCAGTCCTGGAGCTGTGAGGAGATTCGGGCCGTCACCCTGCCTCCCCTGCGTCCCGCCACCGGCCGCTTCTGTCCTCGG
ACCCATTCCAACAATCTCGTAAAACATGGTGGATTACTATGAAGTTCTAGGCGTGCAGAGACATGCCTCACCCGAGGATATTAAAAAGGC
ATATCGGAAACTGGCACTGAAGTGGCATCCAGATAAAAATCCTGAGAATAAAGAAGAAGCAGAGAGAAAATTCAAGCAAGTAGCGGAGGC
ATATGAAGTGCTGTCGGATGCTAAGAAACGGGACATCTATGACAAATATGGCAAAGAAGGATTAAATGGTGGAGGAGGAGGTGGAAGTCA
TTTTGACAGTCCATTTGAATTTGGCTTCACATTCCGTAACCCAGATGATGTCTTCAGGGAATTTTTTGGTGGAAGGGACCCATTTTCATT
TGACTTCTTTGAAGACCCTTTTGAGGACTTCTTTGGGAATCGAAGGGGTCCCCGAGGAAGCAGAAGCCGAGGGACGGGGTCGTTTTTCTC
TGCGTTCAGTGGATTTCCGTCTTTTGGAAGTGGATTTTCTTCTTTTGATACAGGATTTACTTCATTTGGGTCACTAGGTCACGGGGGCCT
CACTTCATTCTCTTCCACGTCATTTGGTGGTAGTGGCATGGGCAACTTCAAATCGATATCAACTTCAACTAAAATGGTTAATGGCAGAAA
AATCACTACAAAGAGAATTGTCGAGAACGGTCAAGAAAGAGTAGAAGTTGAAGAAGATGGCCAGTTAAAGTCCTTAACAATAAATGGGAA
GATGAAGGGCTTCTCCCTGCTGGCCGAGCCCCAGGAGTTCTGGGTGGACAACAGCACCTCAGTGTCTGTTCCCATGCTCTCTGGCATGGG
CACCTTCCAGCACTGGAGTGACATCCAGGACAACTTCTCGGTGACTCAAGTGCCCTTCACTGAGAGCGCCTGCCTGCTGCTGATCCAGCC
TCACTATGCCTCTGACCTGGACAAGGTGGAGGGTCTCACTTTCCAGCAAAACTCCCTCAACTGGATGAAGAAACTATCTCCCCGGACCAT
CCACCTGACCATGCCCCAACTGGTGCTGCAAGGATCTTATGACCTGCAGGACCTGCTCGCCCAGGCTGAGCTGCCCGCCATTCTGCACAC
CGAGCTGAACCTGCAAAAATTGAGCAATGACCGCATCAGGGTGGGGGAGGTGCTGAACAGCATTTTTTTTGAGCTTGAAGCGGATGAGAG
AGAGCCCACAGAGTCTACCCAACAGCTTAACAAGCCTGAGGTCTTGGAGGTGACCCTGAACCGCCCATTCCTGTTTGCTGTGTATGATCA
AAGCGCCACTGCCCTGCACTTCCTGGGCCGCGTGGCCAACCCGCTGAGCACAGCATGAGGCCAGGGCCCCAGAACACAGTGCCTGGCAAG
GCCTCTGCCCCTGGCCTTTGAGGCAAAGGCCAGCAGCAGATAACAACCCCGGACAAATCAGCGATGTGTCACCCCCAGTCTCCCACCTTT
TCTTCTAATGAGTCGACTTTGAGCTGGAAAGCAGCCGTTTCTCCTTGGTCTAAGTGTGCTGCATGGAGTGAGCAGTAGAAGCCTGCAGCG
GCACAAATGCACCTCCCAGTTTGCTGGGTTTATTTTAGAGAATGGGGGTGGGGAGGCAAGAACCAGTGTTTAGCGCGGGACTACTGTTCC
AAAAAGAATTCCAACCGACCAGCTTGTTTGTGAAACAAAAAAGTGTTCCCTTTTCAAGTTGAGAACAAAAATTGGGTTTTAAAATTAAAG
TATACATTTTTGCATTGCCTTCGGTTTGTATTTAGTGTCTTGAATGTAAGAACATGACCTCCGTGTAGTGTCTGTAATACCTTAGTTTTT
TCCACAGATGCTTGTGATTTTTGAACAATACGTGAAAGATGCAAGCACCTGAATTTCTGTTTGAATGCGGAACCATAGCTGGTTATTTCT

>23431_23431_1_DNAJB6-AGT_DNAJB6_chr7_157178305_ENST00000262177_AGT_chr1_230841946_ENST00000366667_length(amino acids)=430AA_BP=228
MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFG
FTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSF
GGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDI
QDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSPRTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLS

--------------------------------------------------------------
>23431_23431_2_DNAJB6-AGT_DNAJB6_chr7_157178305_ENST00000452797_AGT_chr1_230841946_ENST00000366667_length(transcript)=1956nt_BP=736nt
GGAGAAAGGAGAGAAAGGAAAGCGCGAGGAGCCGCCGCCACCACCAGCGCAGCAGTCCTGGAGCTGTGAGGAGATTCGGGCCGTCACCCT
GCCTCCCCTGCGTCCCGCCACCGGCCGCTTCTGTCCTCGGACCCATTCCAACAATCTCGTAAAACATGGTGGATTACTATGAAGTTCTAG
GCGTGCAGAGACATGCCTCACCCGAGGATATTAAAAAGGCCTAAGAAACGGGACATCTATGACAAATATGGCAAAGAAGGATTAAATGGT
GGAGGAGGAGGTGGAAGTCATTTTGACAGTCCATTTGAATTTGGCTTCACATTCCGTAACCCAGATGATGTCTTCAGGGAATTTTTTGGT
GGAAGGGACCCATTTTCATTTGACTTCTTTGAAGACCCTTTTGAGGACTTCTTTGGGAATCGAAGGGGTCCCCGAGGAAGCAGAAGCCGA
GGGACGGGGTCGTTTTTCTCTGCGTTCAGTGGATTTCCGTCTTTTGGAAGTGGATTTTCTTCTTTTGATACAGGATTTACTTCATTTGGG
TCACTAGGTCACGGGGGCCTCACTTCATTCTCTTCCACGTCATTTGGTGGTAGTGGCATGGGCAACTTCAAATCGATATCAACTTCAACT
AAAATGGTTAATGGCAGAAAAATCACTACAAAGAGAATTGTCGAGAACGGTCAAGAAAGAGTAGAAGTTGAAGAAGATGGCCAGTTAAAG
TCCTTAACAATAAATGGGAAGATGAAGGGCTTCTCCCTGCTGGCCGAGCCCCAGGAGTTCTGGGTGGACAACAGCACCTCAGTGTCTGTT
CCCATGCTCTCTGGCATGGGCACCTTCCAGCACTGGAGTGACATCCAGGACAACTTCTCGGTGACTCAAGTGCCCTTCACTGAGAGCGCC
TGCCTGCTGCTGATCCAGCCTCACTATGCCTCTGACCTGGACAAGGTGGAGGGTCTCACTTTCCAGCAAAACTCCCTCAACTGGATGAAG
AAACTATCTCCCCGGACCATCCACCTGACCATGCCCCAACTGGTGCTGCAAGGATCTTATGACCTGCAGGACCTGCTCGCCCAGGCTGAG
CTGCCCGCCATTCTGCACACCGAGCTGAACCTGCAAAAATTGAGCAATGACCGCATCAGGGTGGGGGAGGTGCTGAACAGCATTTTTTTT
GAGCTTGAAGCGGATGAGAGAGAGCCCACAGAGTCTACCCAACAGCTTAACAAGCCTGAGGTCTTGGAGGTGACCCTGAACCGCCCATTC
CTGTTTGCTGTGTATGATCAAAGCGCCACTGCCCTGCACTTCCTGGGCCGCGTGGCCAACCCGCTGAGCACAGCATGAGGCCAGGGCCCC
AGAACACAGTGCCTGGCAAGGCCTCTGCCCCTGGCCTTTGAGGCAAAGGCCAGCAGCAGATAACAACCCCGGACAAATCAGCGATGTGTC
ACCCCCAGTCTCCCACCTTTTCTTCTAATGAGTCGACTTTGAGCTGGAAAGCAGCCGTTTCTCCTTGGTCTAAGTGTGCTGCATGGAGTG
AGCAGTAGAAGCCTGCAGCGGCACAAATGCACCTCCCAGTTTGCTGGGTTTATTTTAGAGAATGGGGGTGGGGAGGCAAGAACCAGTGTT
TAGCGCGGGACTACTGTTCCAAAAAGAATTCCAACCGACCAGCTTGTTTGTGAAACAAAAAAGTGTTCCCTTTTCAAGTTGAGAACAAAA
ATTGGGTTTTAAAATTAAAGTATACATTTTTGCATTGCCTTCGGTTTGTATTTAGTGTCTTGAATGTAAGAACATGACCTCCGTGTAGTG
TCTGTAATACCTTAGTTTTTTCCACAGATGCTTGTGATTTTTGAACAATACGTGAAAGATGCAAGCACCTGAATTTCTGTTTGAATGCGG

>23431_23431_2_DNAJB6-AGT_DNAJB6_chr7_157178305_ENST00000452797_AGT_chr1_230841946_ENST00000366667_length(amino acids)=381AA_BP=179
MPHPRILKRPKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGS
FFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTI
NGKMKGFSLLAEPQEFWVDNSTSVSVPMLSGMGTFQHWSDIQDNFSVTQVPFTESACLLLIQPHYASDLDKVEGLTFQQNSLNWMKKLSP
RTIHLTMPQLVLQGSYDLQDLLAQAELPAILHTELNLQKLSNDRIRVGEVLNSIFFELEADEREPTESTQQLNKPEVLEVTLNRPFLFAV

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

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Fusion Gene PPI Analysis for DNAJB6-AGT


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
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000262177+8102_146230.33333333333334327.0HSP70


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000429029+182_1460242.0HSP70
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000262177+810119_242230.33333333333334327.0KRT18
HgeneDNAJB6chr7:157178305chr1:230841946ENST00000429029+18119_2420242.0KRT18


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 DNAJB6-AGT


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 DNAJB6-AGT


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