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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11878

FusionGeneSummary for EPS8_GYS2

check button Fusion gene summary
Fusion gene informationFusion gene name: EPS8_GYS2
Fusion gene ID: 11878
HgeneTgene
Gene symbol

EPS8

GYS2

Gene ID

2059

2998

Gene nameepidermal growth factor receptor pathway substrate 8glycogen synthase 2
SynonymsDFNB102-
Cytomap

12p12.3

12p12.1

Type of geneprotein-codingprotein-coding
Descriptionepidermal growth factor receptor kinase substrate 8glycogen [starch] synthase, liverglycogen synthase 2 (liver)
Modification date2018052320180523
UniProtAcc

Q12929

P54840

Ensembl transtripts involved in fusion geneENST00000543523, ENST00000281172, 
ENST00000543612, ENST00000540613, 
ENST00000542903, 
ENST00000261195, 
Fusion gene scores* DoF score10 X 4 X 6=2407 X 5 X 5=175
# samples 107
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EPS8 [Title/Abstract] AND GYS2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneGYS2

GO:0005978

glycogen biosynthetic process

1731614


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-97-7554-01AEPS8chr12

15942095

-GYS2chr12

21733457

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000543523ENST00000261195EPS8chr12

15942095

-GYS2chr12

21733457

-
5UTR-3CDSENST00000281172ENST00000261195EPS8chr12

15942095

-GYS2chr12

21733457

-
intron-3CDSENST00000543612ENST00000261195EPS8chr12

15942095

-GYS2chr12

21733457

-
intron-3CDSENST00000540613ENST00000261195EPS8chr12

15942095

-GYS2chr12

21733457

-
intron-3CDSENST00000542903ENST00000261195EPS8chr12

15942095

-GYS2chr12

21733457

-

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FusionProtFeatures for EPS8_GYS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPS8

Q12929

GYS2

P54840

Signaling adapter that controls various cellularprotrusions by regulating actin cytoskeleton dynamics andarchitecture. Depending on its association with other signaltransducers, can regulate different processes. Together with SOS1and ABI1, forms a trimeric complex that participates intransduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Actsas a direct regulator of actin dynamics by binding actin filamentsand has both barbed-end actin filament capping and actin bundlingactivities depending on the context. Displays barbed-end actincapping activity when associated with ABI1, thereby regulatingactin-based motility process: capping activity is auto-inhibitedand inhibition is relieved upon ABI1 interaction. Also shows actinbundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodialprotrusions. Involved in the regulation of processes such asaxonal filopodia growth, stereocilia length, dendritic cellmigration and cancer cell migration and invasion. Acts as aregulator of axonal filopodia formation in neurons: in the absenceof neurotrophic factors, negatively regulates axonal filopodiaformation via actin-capping activity. In contrast, it isphosphorylated in the presence of BDNF leading to inhibition ofits actin-capping activity and stimulation of filopodia formation.Component of a complex with WHRN and MYO15A that localizes atstereocilia tips and is required for elongation of the stereociliaactin core. Indirectly involved in cell cycle progression; itsdegradation following ubiquitination being required during G2phase to promote cell shape changes. {ECO:0000269|PubMed:15558031,ECO:0000269|PubMed:17115031}. Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.

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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FusionGeneSequence for EPS8_GYS2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EPS8_GYS2


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
EPS8DVL1, BLOC1S6, CCDC85B, AIMP2, PCM1, HOOK2, TEX28, BAIAP2, EPS8, ABI1, SOS1, DNALI1, MRPL20, MYO15A, SHC1, SRC, SHB, MAP1LC3B, C8orf33, EGFR, MDC1, CFTR, SOX2, ALDH7A1, CTNNA3, CSNK2B, SLC27A4, TDP2, XRCC6, CXCL2, MAP3K11, NFKB2, RFXAP, BCKDK, SF3B3, ZZZ3, GULP1, ADAM22, ARMC1, SCRN3, NACC2, PROSER2, TPRN, ANKRD28, BAIAP2L1, BYSL, RUNX1T1, GRB2, HNRNPC, SMARCE1, INPP5J, C17orf59, C19orf25, GOLGA8EP, XAGE2, CBL, C6orf141, RCAN3, RSPH14, SERPINA5, AMPD2, FGL1GYS2TNFRSF1A, GYG2, PPP1R3B, PPP1R3C, PPP1CA, STBD1


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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RelatedDrugs for EPS8_GYS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EPS8_GYS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEPS8C0027626Neoplasm Invasiveness1CTD_human
TgeneGYS2C1855861Glycogen Storage Disease 0, Liver1CTD_human;ORPHANET;UNIPROT