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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:DES-KRT8 (FusionGDB2 ID:HG1674TG3856)

Fusion Gene Summary for DES-KRT8

check button Fusion gene summary
Fusion gene informationFusion gene name: DES-KRT8
Fusion gene ID: hg1674tg3856
HgeneTgene
Gene symbol

DES

KRT8

Gene ID

1674

3856

Gene namedesminkeratin 8
SynonymsCDCD3|CMD1F|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2RCARD2|CK-8|CK8|CYK8|K2C8|K8|KO
Cytomap('DES')('KRT8')

2q35

12q13.13

Type of geneprotein-codingprotein-coding
Descriptiondesmincardiomyopathy, dilated 1F (autosomal dominant)epididymis secretory sperm binding proteinintermediate filament proteinmutant desmin p.K241Ekeratin, type II cytoskeletal 8cytokeratin-8keratin 8, type IItype-II keratin Kb8
Modification date2020032920200313
UniProtAcc

P17661

.
Ensembl transtripts involved in fusion geneENST00000373960, 
Fusion gene scores* DoF score8 X 8 X 6=38422 X 21 X 11=5082
# samples 925
** MAII scorelog2(9/384*10)=-2.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(25/5082*10)=-4.34539637539127
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DES [Title/Abstract] AND KRT8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDES(220286282)-KRT8(53292303), # samples:1
Anticipated loss of major functional domain due to fusion event.DES-KRT8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DES-KRT8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DES-KRT8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DES-KRT8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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

check buttonFusion gene breakpoints across DES (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 KRT8 (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
ChimerDB4READTCGA-AG-A02XDESchr2

220286282

+KRT8chr12

53292303

-


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Fusion Gene ORF analysis for DES-KRT8

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-intronENST00000373960ENST00000549198DESchr2

220286282

+KRT8chr12

53292303

-
In-frameENST00000373960ENST00000293308DESchr2

220286282

+KRT8chr12

53292303

-
In-frameENST00000373960ENST00000546897DESchr2

220286282

+KRT8chr12

53292303

-
In-frameENST00000373960ENST00000552150DESchr2

220286282

+KRT8chr12

53292303

-
In-frameENST00000373960ENST00000552551DESchr2

220286282

+KRT8chr12

53292303

-

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)
ENST00000373960DESchr2220286282+ENST00000552551KRT8chr1253292303-18151330861579497
ENST00000373960DESchr2220286282+ENST00000293308KRT8chr1253292303-18141330861579497
ENST00000373960DESchr2220286282+ENST00000546897KRT8chr1253292303-17271330861579497
ENST00000373960DESchr2220286282+ENST00000552150KRT8chr1253292303-17111330861579497

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
ENST00000373960ENST00000552551DESchr2220286282+KRT8chr1253292303-0.0079917850.9920082
ENST00000373960ENST00000293308DESchr2220286282+KRT8chr1253292303-0.0080605550.9919395
ENST00000373960ENST00000546897DESchr2220286282+KRT8chr1253292303-0.0076058160.9923942
ENST00000373960ENST00000552150DESchr2220286282+KRT8chr1253292303-0.0065618670.99343807

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Fusion Genomic Features for DES-KRT8


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

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Fusion Protein Features for DES-KRT8


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/chr2:220286282/chr12:53292303)
- 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
DES

P17661

.
FUNCTION: Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity). {ECO:0000250|UniProtKB:P31001, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:25394388, ECO:0000269|PubMed:26724190, ECO:0000303|PubMed:25358400}.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
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69108_416414471.0DomainIF rod
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69109_141414471.0RegionNote=Coil 1A
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69142_151414471.0RegionNote=Linker 1
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69152_252414471.0RegionNote=Coil 1B
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69253_268414471.0RegionNote=Linker 12
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69269_287414471.0RegionNote=Coil 2A
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69288_295414471.0RegionNote=Linker 2
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69296_412414471.0RegionNote=Coil 2B
HgeneDESchr2:220286282chr12:53292303ENST00000373960+692_108414471.0RegionNote=Head
TgeneKRT8chr2:220286282chr12:53292303ENST0000029330858399_483400484.0RegionNote=Tail
TgeneKRT8chr2:220286282chr12:53292303ENST0000054689769399_483400484.0RegionNote=Tail
TgeneKRT8chr2:220286282chr12:53292303ENST0000055255169399_483400484.0RegionNote=Tail

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69413_470414471.0RegionNote=Tail
TgeneKRT8chr2:220286282chr12:53292303ENST00000293308589_49400484.0Compositional biasNote=Ser-rich
TgeneKRT8chr2:220286282chr12:53292303ENST00000546897699_49400484.0Compositional biasNote=Ser-rich
TgeneKRT8chr2:220286282chr12:53292303ENST00000552150699_49428512.0Compositional biasNote=Ser-rich
TgeneKRT8chr2:220286282chr12:53292303ENST00000552551699_49400484.0Compositional biasNote=Ser-rich
TgeneKRT8chr2:220286282chr12:53292303ENST000002933085891_402400484.0DomainIF rod
TgeneKRT8chr2:220286282chr12:53292303ENST000005468976991_402400484.0DomainIF rod
TgeneKRT8chr2:220286282chr12:53292303ENST000005521506991_402428512.0DomainIF rod
TgeneKRT8chr2:220286282chr12:53292303ENST000005525516991_402400484.0DomainIF rod
TgeneKRT8chr2:220286282chr12:53292303ENST0000029330858127_143400484.0RegionNote=Linker 1
TgeneKRT8chr2:220286282chr12:53292303ENST0000029330858144_235400484.0RegionNote=Coil 1B
TgeneKRT8chr2:220286282chr12:53292303ENST00000293308581_90400484.0RegionNote=Head
TgeneKRT8chr2:220286282chr12:53292303ENST0000029330858236_259400484.0RegionNote=Linker 12
TgeneKRT8chr2:220286282chr12:53292303ENST0000029330858260_398400484.0RegionNote=Coil 2
TgeneKRT8chr2:220286282chr12:53292303ENST000002933085891_126400484.0RegionNote=Coil 1A
TgeneKRT8chr2:220286282chr12:53292303ENST0000054689769127_143400484.0RegionNote=Linker 1
TgeneKRT8chr2:220286282chr12:53292303ENST0000054689769144_235400484.0RegionNote=Coil 1B
TgeneKRT8chr2:220286282chr12:53292303ENST00000546897691_90400484.0RegionNote=Head
TgeneKRT8chr2:220286282chr12:53292303ENST0000054689769236_259400484.0RegionNote=Linker 12
TgeneKRT8chr2:220286282chr12:53292303ENST0000054689769260_398400484.0RegionNote=Coil 2
TgeneKRT8chr2:220286282chr12:53292303ENST000005468976991_126400484.0RegionNote=Coil 1A
TgeneKRT8chr2:220286282chr12:53292303ENST0000055215069127_143428512.0RegionNote=Linker 1
TgeneKRT8chr2:220286282chr12:53292303ENST0000055215069144_235428512.0RegionNote=Coil 1B
TgeneKRT8chr2:220286282chr12:53292303ENST00000552150691_90428512.0RegionNote=Head
TgeneKRT8chr2:220286282chr12:53292303ENST0000055215069236_259428512.0RegionNote=Linker 12
TgeneKRT8chr2:220286282chr12:53292303ENST0000055215069260_398428512.0RegionNote=Coil 2
TgeneKRT8chr2:220286282chr12:53292303ENST0000055215069399_483428512.0RegionNote=Tail
TgeneKRT8chr2:220286282chr12:53292303ENST000005521506991_126428512.0RegionNote=Coil 1A
TgeneKRT8chr2:220286282chr12:53292303ENST0000055255169127_143400484.0RegionNote=Linker 1
TgeneKRT8chr2:220286282chr12:53292303ENST0000055255169144_235400484.0RegionNote=Coil 1B
TgeneKRT8chr2:220286282chr12:53292303ENST00000552551691_90400484.0RegionNote=Head
TgeneKRT8chr2:220286282chr12:53292303ENST0000055255169236_259400484.0RegionNote=Linker 12
TgeneKRT8chr2:220286282chr12:53292303ENST0000055255169260_398400484.0RegionNote=Coil 2
TgeneKRT8chr2:220286282chr12:53292303ENST000005525516991_126400484.0RegionNote=Coil 1A


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Fusion Gene Sequence for DES-KRT8


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.
>22361_22361_1_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000293308_length(transcript)=1814nt_BP=1330nt
GTCTCCCCTCGCCGCATCCACTCTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCGCCAGCCTCGCCCGCGCCGTCACCATGA
GCCAGGCCTACTCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGGGCCCCGGGCTTCCCACTCGGCTCCCCGCTGAGTT
CGCCCGTGTTCCCGCGGGCGGGTTTCGGCTCTAAGGGCTCCTCCAGCTCGGTGACGTCCCGCGTGTACCAGGTGTCGCGCACGTCGGGCG
GGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCCTCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCT
CACTGGCCGACGCGGTGAACCAGGAGTTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCCAACT
ACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGG
CCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACA
ACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGCTGCAGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCC
GAGCGGACGTGGATGCAGCTACTCTAGCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAGAAAG
TGCATGAAGAGGAGATCCGTGAGTTGCAGGCTCAGCTTCAGGAACAGCAGGTCCAGGTGGAGATGGACATGTCTAAGCCAGACCTCACTG
CCGCCCTCAGGGACATCCGGGCTCAGTATGAGACCATCGCGGCTAAGAACATTTCTGAAGCTGAGGAGTGGTACAAGTCGAAGGTGTCAG
ACCTGACCCAGGCAGCCAACAAGAACAACGACGCCCTGCGCCAGGCCAAGCAGGAGATGATGGAATACCGACACCAGATCCAGTCCTACA
CCTGCGAGATTGACGCCCTGAAGGGCACTAACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGTGAGGCCAGTG
GCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTACCAGGACCTGC
TCAACGTGAAGATGGCCCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGCTGGAGTCTGGGATGCAGA
ACATGAGTATTCATACGAAGACCACCAGCGGCTATGCAGGTGGTCTGAGCTCGGCCTATGGGGGCCTCACAAGCCCCGGCCTCAGCTACA
GCCTGGGCTCCAGCTTTGGCTCTGGCGCGGGCTCCAGCTCCTTCAGCCGCACCAGCTCCTCCAGGGCCGTGGTTGTGAAGAAGATCGAGA
CACGTGATGGGAAGCTGGTGTCTGAGTCCTCTGACGTCCTGCCCAAGTGAACAGCTGCGGCAGCCCCTCCCAGCCTACCCCTCCTGCGCT
GCCCCAGAGCCTGGGAAGGAGGCCGCTATGCAGGGTAGCACTGGGAACAGGAGACCCACCTGAGGCTCAGCCCTAGCCCTCAGCCCACCT
GGGGAGTTTACTACCTGGGGACCCCCCTTGCCCATGCCTCCAGCTACAAAACAATTCAATTGCTTTTTTTTTTTGGTCCAAAATAAAACC

>22361_22361_1_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000293308_length(amino acids)=497AA_BP=380
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTPSSYGAGELLD
FSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDL
TAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLS

--------------------------------------------------------------
>22361_22361_2_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000546897_length(transcript)=1727nt_BP=1330nt
GTCTCCCCTCGCCGCATCCACTCTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCGCCAGCCTCGCCCGCGCCGTCACCATGA
GCCAGGCCTACTCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGGGCCCCGGGCTTCCCACTCGGCTCCCCGCTGAGTT
CGCCCGTGTTCCCGCGGGCGGGTTTCGGCTCTAAGGGCTCCTCCAGCTCGGTGACGTCCCGCGTGTACCAGGTGTCGCGCACGTCGGGCG
GGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCCTCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCT
CACTGGCCGACGCGGTGAACCAGGAGTTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCCAACT
ACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGG
CCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACA
ACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGCTGCAGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCC
GAGCGGACGTGGATGCAGCTACTCTAGCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAGAAAG
TGCATGAAGAGGAGATCCGTGAGTTGCAGGCTCAGCTTCAGGAACAGCAGGTCCAGGTGGAGATGGACATGTCTAAGCCAGACCTCACTG
CCGCCCTCAGGGACATCCGGGCTCAGTATGAGACCATCGCGGCTAAGAACATTTCTGAAGCTGAGGAGTGGTACAAGTCGAAGGTGTCAG
ACCTGACCCAGGCAGCCAACAAGAACAACGACGCCCTGCGCCAGGCCAAGCAGGAGATGATGGAATACCGACACCAGATCCAGTCCTACA
CCTGCGAGATTGACGCCCTGAAGGGCACTAACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGTGAGGCCAGTG
GCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTACCAGGACCTGC
TCAACGTGAAGATGGCCCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGCTGGAGTCTGGGATGCAGA
ACATGAGTATTCATACGAAGACCACCAGCGGCTATGCAGGTGGTCTGAGCTCGGCCTATGGGGGCCTCACAAGCCCCGGCCTCAGCTACA
GCCTGGGCTCCAGCTTTGGCTCTGGCGCGGGCTCCAGCTCCTTCAGCCGCACCAGCTCCTCCAGGGCCGTGGTTGTGAAGAAGATCGAGA
CACGTGATGGGAAGCTGGTGTCTGAGTCCTCTGACGTCCTGCCCAAGTGAACAGCTGCGGCAGCCCCTCCCAGCCTACCCCTCCTGCGCT
GCCCCAGAGCCTGGGAAGGAGGCCGCTATGCAGGGTAGCACTGGGAACAGGAGACCCACCTGAGGCTCAGCCCTAGCCCTCAGCCCACCT

>22361_22361_2_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000546897_length(amino acids)=497AA_BP=380
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTPSSYGAGELLD
FSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDL
TAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLS

--------------------------------------------------------------
>22361_22361_3_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000552150_length(transcript)=1711nt_BP=1330nt
GTCTCCCCTCGCCGCATCCACTCTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCGCCAGCCTCGCCCGCGCCGTCACCATGA
GCCAGGCCTACTCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGGGCCCCGGGCTTCCCACTCGGCTCCCCGCTGAGTT
CGCCCGTGTTCCCGCGGGCGGGTTTCGGCTCTAAGGGCTCCTCCAGCTCGGTGACGTCCCGCGTGTACCAGGTGTCGCGCACGTCGGGCG
GGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCCTCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCT
CACTGGCCGACGCGGTGAACCAGGAGTTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCCAACT
ACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGG
CCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACA
ACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGCTGCAGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCC
GAGCGGACGTGGATGCAGCTACTCTAGCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAGAAAG
TGCATGAAGAGGAGATCCGTGAGTTGCAGGCTCAGCTTCAGGAACAGCAGGTCCAGGTGGAGATGGACATGTCTAAGCCAGACCTCACTG
CCGCCCTCAGGGACATCCGGGCTCAGTATGAGACCATCGCGGCTAAGAACATTTCTGAAGCTGAGGAGTGGTACAAGTCGAAGGTGTCAG
ACCTGACCCAGGCAGCCAACAAGAACAACGACGCCCTGCGCCAGGCCAAGCAGGAGATGATGGAATACCGACACCAGATCCAGTCCTACA
CCTGCGAGATTGACGCCCTGAAGGGCACTAACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGTGAGGCCAGTG
GCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTACCAGGACCTGC
TCAACGTGAAGATGGCCCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGCTGGAGTCTGGGATGCAGA
ACATGAGTATTCATACGAAGACCACCAGCGGCTATGCAGGTGGTCTGAGCTCGGCCTATGGGGGCCTCACAAGCCCCGGCCTCAGCTACA
GCCTGGGCTCCAGCTTTGGCTCTGGCGCGGGCTCCAGCTCCTTCAGCCGCACCAGCTCCTCCAGGGCCGTGGTTGTGAAGAAGATCGAGA
CACGTGATGGGAAGCTGGTGTCTGAGTCCTCTGACGTCCTGCCCAAGTGAACAGCTGCGGCAGCCCCTCCCAGCCTACCCCTCCTGCGCT
GCCCCAGAGCCTGGGAAGGAGGCCGCTATGCAGGGTAGCACTGGGAACAGGAGACCCACCTGAGGCTCAGCCCTAGCCCTCAGCCCACCT

>22361_22361_3_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000552150_length(amino acids)=497AA_BP=380
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTPSSYGAGELLD
FSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDL
TAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLS

--------------------------------------------------------------
>22361_22361_4_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000552551_length(transcript)=1815nt_BP=1330nt
GTCTCCCCTCGCCGCATCCACTCTCCGGCCGGCCGCCTGCCCGCCGCCTCCTCCGTGCGCCCGCCAGCCTCGCCCGCGCCGTCACCATGA
GCCAGGCCTACTCGTCCAGCCAGCGCGTGTCCTCCTACCGCCGCACCTTCGGCGGGGCCCCGGGCTTCCCACTCGGCTCCCCGCTGAGTT
CGCCCGTGTTCCCGCGGGCGGGTTTCGGCTCTAAGGGCTCCTCCAGCTCGGTGACGTCCCGCGTGTACCAGGTGTCGCGCACGTCGGGCG
GGGCCGGGGGCCTGGGGTCGCTGCGGGCCAGCCGGCTGGGGACCACCCGCACGCCCTCCTCCTACGGCGCAGGCGAGCTGCTGGACTTCT
CACTGGCCGACGCGGTGAACCAGGAGTTTCTGACCACGCGCACCAACGAGAAGGTGGAGCTGCAGGAGCTCAATGACCGCTTCGCCAACT
ACATCGAGAAGGTGCGCTTCCTGGAGCAGCAGAACGCGGCGCTCGCCGCCGAAGTGAACCGGCTCAAGGGCCGCGAGCCGACGCGAGTGG
CCGAGCTCTACGAGGAGGAGCTGCGGGAGCTGCGGCGCCAGGTGGAGGTGCTCACTAACCAGCGCGCGCGCGTCGACGTCGAGCGCGACA
ACCTGCTCGACGACCTGCAGCGGCTCAAGGCCAAGCTGCAGGAGGAGATTCAGTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCC
GAGCGGACGTGGATGCAGCTACTCTAGCTCGCATTGACCTGGAGCGCAGAATTGAATCTCTCAACGAGGAGATCGCGTTCCTTAAGAAAG
TGCATGAAGAGGAGATCCGTGAGTTGCAGGCTCAGCTTCAGGAACAGCAGGTCCAGGTGGAGATGGACATGTCTAAGCCAGACCTCACTG
CCGCCCTCAGGGACATCCGGGCTCAGTATGAGACCATCGCGGCTAAGAACATTTCTGAAGCTGAGGAGTGGTACAAGTCGAAGGTGTCAG
ACCTGACCCAGGCAGCCAACAAGAACAACGACGCCCTGCGCCAGGCCAAGCAGGAGATGATGGAATACCGACACCAGATCCAGTCCTACA
CCTGCGAGATTGACGCCCTGAAGGGCACTAACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGTGAGGCCAGTG
GCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTACCAGGACCTGC
TCAACGTGAAGATGGCCCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGCTGGAGTCTGGGATGCAGA
ACATGAGTATTCATACGAAGACCACCAGCGGCTATGCAGGTGGTCTGAGCTCGGCCTATGGGGGCCTCACAAGCCCCGGCCTCAGCTACA
GCCTGGGCTCCAGCTTTGGCTCTGGCGCGGGCTCCAGCTCCTTCAGCCGCACCAGCTCCTCCAGGGCCGTGGTTGTGAAGAAGATCGAGA
CACGTGATGGGAAGCTGGTGTCTGAGTCCTCTGACGTCCTGCCCAAGTGAACAGCTGCGGCAGCCCCTCCCAGCCTACCCCTCCTGCGCT
GCCCCAGAGCCTGGGAAGGAGGCCGCTATGCAGGGTAGCACTGGGAACAGGAGACCCACCTGAGGCTCAGCCCTAGCCCTCAGCCCACCT
GGGGAGTTTACTACCTGGGGACCCCCCTTGCCCATGCCTCCAGCTACAAAACAATTCAATTGCTTTTTTTTTTTGGTCCAAAATAAAACC

>22361_22361_4_DES-KRT8_DES_chr2_220286282_ENST00000373960_KRT8_chr12_53292303_ENST00000552551_length(amino acids)=497AA_BP=380
MSQAYSSSQRVSSYRRTFGGAPGFPLGSPLSSPVFPRAGFGSKGSSSSVTSRVYQVSRTSGGAGGLGSLRASRLGTTRTPSSYGAGELLD
FSLADAVNQEFLTTRTNEKVELQELNDRFANYIEKVRFLEQQNAALAAEVNRLKGREPTRVAELYEEELRELRRQVEVLTNQRARVDVER
DNLLDDLQRLKAKLQEEIQLKEEAENNLAAFRADVDAATLARIDLERRIESLNEEIAFLKKVHEEEIRELQAQLQEQQVQVEMDMSKPDL
TAALRDIRAQYETIAAKNISEAEEWYKSKVSDLTQAANKNNDALRQAKQEMMEYRHQIQSYTCEIDALKGTNDSLMRQMRELEDRFASEA
SGYQDNIARLEEEIRHLKDEMARHLREYQDLLNVKMALDVEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYAGGLSSAYGGLTSPGLS

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

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Fusion Gene PPI Analysis for DES-KRT8


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
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69268_415414.6666666666667471.0NEB


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneDESchr2:220286282chr12:53292303ENST00000373960+69438_453414.6666666666667471.0CRYAB


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 DES-KRT8


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 DES-KRT8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDESC1832370MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED38CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDESC1858154CARDIOMYOPATHY, DILATED, 1I6CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDESC1867005Scapuloperoneal Syndrome, Neurogenic, Kaeser Type5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDESC0686353Muscular Dystrophies, Limb-Girdle3CTD_human;GENOMICS_ENGLAND
HgeneDESC2678065Myofibrillar Myopathy3CTD_human;GENOMICS_ENGLAND
HgeneDESC0004238Atrial Fibrillation1CTD_human
HgeneDESC0006142Malignant neoplasm of breast1CTD_human
HgeneDESC0007097Carcinoma1CTD_human
HgeneDESC0015934Fetal Growth Retardation1CTD_human
HgeneDESC0017658Glomerulonephritis1CTD_human
HgeneDESC0024623Malignant neoplasm of stomach1CTD_human
HgeneDESC0024667Animal Mammary Neoplasms1CTD_human
HgeneDESC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneDESC0027720Nephrosis1CTD_human
HgeneDESC0038356Stomach Neoplasms1CTD_human
HgeneDESC0205696Anaplastic carcinoma1CTD_human
HgeneDESC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneDESC0205698Undifferentiated carcinoma1CTD_human
HgeneDESC0205699Carcinomatosis1CTD_human
HgeneDESC0235480Paroxysmal atrial fibrillation1CTD_human
HgeneDESC0235833Congenital diaphragmatic hernia1CTD_human
HgeneDESC0265699Congenital hernia of foramen of Morgagni1CTD_human
HgeneDESC0265700Congenital hernia of foramen of Bochdalek1CTD_human
HgeneDESC0340427Familial dilated cardiomyopathy1ORPHANET
HgeneDESC0598608Hyperhomocysteinemia1CTD_human
HgeneDESC0678222Breast Carcinoma1CTD_human
HgeneDESC0878544Cardiomyopathies1GENOMICS_ENGLAND
HgeneDESC1257925Mammary Carcinoma, Animal1CTD_human
HgeneDESC1257931Mammary Neoplasms, Human1CTD_human
HgeneDESC1458155Mammary Neoplasms1CTD_human
HgeneDESC1704377Bright Disease1CTD_human
HgeneDESC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneDESC2585653Persistent atrial fibrillation1CTD_human
HgeneDESC3148763MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E1ORPHANET
HgeneDESC3468561familial atrial fibrillation1CTD_human
HgeneDESC4704874Mammary Carcinoma, Human1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneC0023903Liver neoplasms2CTD_human
TgeneC0345904Malignant neoplasm of liver2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0162557Liver Failure, Acute1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1861556Cirrhosis, Familial1CTD_human;UNIPROT
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human