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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:C8orf44-YWHAE (FusionGDB2 ID:HG56260TG7531)

Fusion Gene Summary for C8orf44-YWHAE

check button Fusion gene summary
Fusion gene informationFusion gene name: C8orf44-YWHAE
Fusion gene ID: hg56260tg7531
HgeneTgene
Gene symbol

C8orf44

YWHAE

Gene ID

56260

7531

Gene namechromosome 8 open reading frame 44tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Synonyms-14-3-3E|HEL2|KCIP-1|MDCR|MDS
Cytomap('C8orf44')('YWHAE')

8q13.1

17p13.3

Type of genencRNAprotein-coding
Description-14-3-3 protein epsilon14-3-3 epsilonepididymis luminal protein 2mitochondrial import stimulation factor L subunitprotein kinase C inhibitor protein-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptidetyrosine
Modification date2020031320200327
UniProtAcc

Q96CB5

P62258

Ensembl transtripts involved in fusion geneENST00000519561, ENST00000521889, 
ENST00000390159, ENST00000518860, 
Fusion gene scores* DoF score4 X 2 X 4=3225 X 13 X 12=3900
# samples 432
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(32/3900*10)=-3.60733031374961
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C8orf44 [Title/Abstract] AND YWHAE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC8orf44(67579936)-YWHAE(1268352), # 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
TgeneYWHAE

GO:0000165

MAPK cascade

12917326

TgeneYWHAE

GO:0034605

cellular response to heat

12917326

TgeneYWHAE

GO:0046827

positive regulation of protein export from nucleus

12917326

TgeneYWHAE

GO:0051480

regulation of cytosolic calcium ion concentration

18029012

TgeneYWHAE

GO:0060306

regulation of membrane repolarization

11953308

TgeneYWHAE

GO:1901016

regulation of potassium ion transmembrane transporter activity

11953308

TgeneYWHAE

GO:1901020

negative regulation of calcium ion transmembrane transporter activity

18029012

TgeneYWHAE

GO:1902309

negative regulation of peptidyl-serine dephosphorylation

11953308

TgeneYWHAE

GO:1905913

negative regulation of calcium ion export across plasma membrane

18029012



check button Fusion gene information
* 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-66-2758C8orf44chr8

67579936

+YWHAEchr17

1268352

-


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Fusion Gene ORF analysis for C8orf44-YWHAE

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
5UTR-3CDSENST00000519561ENST00000264335C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-3CDSENST00000521889ENST00000264335C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-5UTRENST00000519561ENST00000571732C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-5UTRENST00000521889ENST00000571732C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-intronENST00000519561ENST00000498643C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-intronENST00000519561ENST00000573026C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-intronENST00000519561ENST00000575977C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-intronENST00000521889ENST00000498643C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-intronENST00000521889ENST00000573026C8orf44chr8

67579936

+YWHAEchr17

1268352

-
5UTR-intronENST00000521889ENST00000575977C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-3CDSENST00000390159ENST00000264335C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-3CDSENST00000518860ENST00000264335C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-5UTRENST00000390159ENST00000571732C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-5UTRENST00000518860ENST00000571732C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-intronENST00000390159ENST00000498643C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-intronENST00000390159ENST00000573026C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-intronENST00000390159ENST00000575977C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-intronENST00000518860ENST00000498643C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-intronENST00000518860ENST00000573026C8orf44chr8

67579936

+YWHAEchr17

1268352

-
intron-intronENST00000518860ENST00000575977C8orf44chr8

67579936

+YWHAEchr17

1268352

-

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

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Fusion Genomic Features for C8orf44-YWHAE


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)


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Fusion Protein Features for C8orf44-YWHAE


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/:67579936/:1268352)
- 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
C8orf44

Q96CB5

YWHAE

P62258

FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner (By similarity). Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm (PubMed:12917326). {ECO:0000250|UniProtKB:P62261, ECO:0000269|PubMed:12917326}.

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 C8orf44-YWHAE


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 C8orf44-YWHAE


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 C8orf44-YWHAE


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 C8orf44-YWHAE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0036341Schizophrenia4PSYGENET
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0206630Endometrial Stromal Sarcoma2ORPHANET
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0265219Miller Dieker syndrome1ORPHANET
TgeneC0334488Clear cell sarcoma of kidney1ORPHANET
TgeneC2750748Chromosome 17p13.3 Duplication Syndrome1ORPHANET
TgeneC4707092Distal 17p13.3 microdeletion syndrome1ORPHANET