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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:PFDN6-CREBRF (FusionGDB2 ID:64417)

Fusion Gene Summary for PFDN6-CREBRF

check button Fusion gene summary
Fusion gene informationFusion gene name: PFDN6-CREBRF
Fusion gene ID: 64417
HgeneTgene
Gene symbol

PFDN6

CREBRF

Gene ID

10471

153222

Gene nameprefoldin subunit 6CREB3 regulatory factor
SynonymsH2-KE2|HKE2|KE-2|PFD6C5orf41|LRF
Cytomap

6p21.32

5q35.1

Type of geneprotein-codingprotein-coding
Descriptionprefoldin subunit 6HLA class II region expressed gene KE2KE2 proteinCREB3 regulatory factorUPF0474 protein C5orf41adult retina proteinluman recruitment factorluman-recruiting factorluman/CREB3 recruitment factor
Modification date2020031320200313
UniProtAcc.

Q8IUR6

Ensembl transtripts involved in fusion geneENST00000374606, ENST00000395131, 
ENST00000374607, ENST00000374610, 
ENST00000383207, ENST00000399383, 
ENST00000399385, ENST00000412289, 
ENST00000425878, ENST00000431830, 
ENST00000432391, ENST00000442285, 
ENST00000445559, ENST00000448594, 
ENST00000451970, ENST00000452658, 
ENST00000463584, ENST00000468094, 
ENST00000474406, ENST00000482292, 
ENST00000491095, ENST00000547641, 
ENST00000547952, ENST00000548040, 
ENST00000552711, 
ENST00000296953, 
ENST00000517882, ENST00000520420, 
ENST00000522692, ENST00000540014, 
Fusion gene scores* DoF score4 X 4 X 1=168 X 8 X 2=128
# samples 48
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PFDN6 [Title/Abstract] AND CREBRF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPFDN6(33258706)-CREBRF(172559741), # samples:1
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
HgenePFDN6

GO:0051131

chaperone-mediated protein complex assembly

9630229

TgeneCREBRF

GO:0045944

positive regulation of transcription by RNA polymerase II

16940180


check buttonFusion gene breakpoints across PFDN6 (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 CREBRF (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
ChiTaRS5.0N/ABG033635PFDN6chr6

33258706

+CREBRFchr5

172559741

-


Top

Fusion Gene ORF analysis for PFDN6-CREBRF

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-intronENST00000374606ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000374606ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000374606ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000374606ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000374606ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000395131ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000395131ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000395131ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000395131ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
5CDS-intronENST00000395131ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374607ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374607ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374607ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374607ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374607ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374610ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374610ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374610ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374610ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000374610ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000383207ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000383207ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000383207ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000383207ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000383207ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399383ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399383ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399383ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399383ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399383ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399385ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399385ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399385ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399385ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000399385ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000412289ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000412289ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000412289ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000412289ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000412289ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000425878ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000425878ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000425878ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000425878ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000425878ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000431830ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000431830ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000431830ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000431830ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000431830ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000432391ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000432391ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000432391ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000432391ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000432391ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000442285ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000442285ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000442285ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000442285ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000442285ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000445559ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000445559ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000445559ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000445559ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000445559ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000448594ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000448594ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000448594ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000448594ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000448594ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000451970ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000451970ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000451970ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000451970ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000451970ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000452658ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000452658ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000452658ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000452658ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000452658ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000463584ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000463584ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000463584ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000463584ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000463584ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000468094ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000468094ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000468094ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000468094ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000468094ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000474406ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000474406ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000474406ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000474406ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000474406ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000482292ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000482292ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000482292ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000482292ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000482292ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000491095ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000491095ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000491095ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000491095ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000491095ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547641ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547641ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547641ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547641ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547641ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547952ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547952ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547952ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547952ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000547952ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000548040ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000548040ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000548040ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000548040ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000548040ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000552711ENST00000296953PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000552711ENST00000517882PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000552711ENST00000520420PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000552711ENST00000522692PFDN6chr6

33258706

+CREBRFchr5

172559741

-
intron-intronENST00000552711ENST00000540014PFDN6chr6

33258706

+CREBRFchr5

172559741

-

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)

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

Top

Fusion Genomic Features for PFDN6-CREBRF


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 PFDN6-CREBRF


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/:33258706/:172559741)
- 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
.CREBRF

Q8IUR6

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: Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci. {ECO:0000269|PubMed:18391022}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for PFDN6-CREBRF


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.

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Fusion Gene PPI Analysis for PFDN6-CREBRF


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 PFDN6-CREBRF


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 PFDN6-CREBRF


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