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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: 41564

FusionGeneSummary for VPS26A_GYS1

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS26A_GYS1
Fusion gene ID: 41564
HgeneTgene
Gene symbol

VPS26A

GYS1

Gene ID

9559

2997

Gene nameVPS26, retromer complex component Aglycogen synthase 1
SynonymsHB58|Hbeta58|PEP8A|VPS26GSY|GYS
Cytomap

10q22.1

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 26AVPS26 retromer complex comonent Avacuolar protein sorting 26 homolog Avesicle protein sorting 26Aglycogen [starch] synthase, muscleglycogen synthase 1 (muscle)
Modification date2018052320180523
UniProtAcc

O75436

P13807

Ensembl transtripts involved in fusion geneENST00000373382, ENST00000263559, 
ENST00000395098, ENST00000546041, 
ENST00000490696, ENST00000541711, 
ENST00000489794, 		ENST00000323798, 
ENST00000263276, ENST00000541188, 
ENST00000544287, ENST00000540532, 
ENST00000457974, 
Fusion gene scores* DoF score7 X 7 X 4=1963 X 3 X 1=9
# samples 74
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/9*10)=2.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: VPS26A [Title/Abstract] AND GYS1 [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
TgeneGYS1

GO:0005978

glycogen biosynthetic process

16275910


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
ChiTaRS3.1DA766946VPS26Achr10

70892770

+GYS1chr19

49481214

-
* 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
Frame-shiftENST00000373382ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000373382ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000373382ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000373382ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-3UTRENST00000373382ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-intronENST00000373382ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000263559ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000263559ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000263559ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000263559ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-3UTRENST00000263559ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-intronENST00000263559ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000395098ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000395098ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000395098ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000395098ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-3UTRENST00000395098ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-intronENST00000395098ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000546041ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000546041ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000546041ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000546041ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3UTRENST00000546041ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-intronENST00000546041ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-
3UTR-3CDSENST00000490696ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
3UTR-3CDSENST00000490696ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
3UTR-3CDSENST00000490696ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
3UTR-3CDSENST00000490696ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
3UTR-3UTRENST00000490696ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
3UTR-intronENST00000490696ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000541711ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000541711ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000541711ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3CDSENST00000541711ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-3UTRENST00000541711ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
5UTR-intronENST00000541711ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000489794ENST00000323798VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000489794ENST00000263276VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000489794ENST00000541188VPS26Achr10

70892770

+GYS1chr19

49481214

-
Frame-shiftENST00000489794ENST00000544287VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-3UTRENST00000489794ENST00000540532VPS26Achr10

70892770

+GYS1chr19

49481214

-
5CDS-intronENST00000489794ENST00000457974VPS26Achr10

70892770

+GYS1chr19

49481214

-

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FusionProtFeatures for VPS26A_GYS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS26A

O75436

GYS1

P13807

Acts as component of the retromer cargo-selectivecomplex (CSC). The CSC is believed to be the core functionalcomponent of retromer or respective retromer complex variantsacting to prevent missorting of selected transmembrane cargoproteins into the lysosomal degradation pathway. The recruitmentof the CSC to the endosomal membrane involves RAB7A and SNX3. TheSNX-BAR retromer mediates retrograde transport of cargo proteinsfrom endosomes to the trans-Golgi network (TGN) and is involved inendosome-to-plasma membrane transport for cargo protein recycling.The SNX3-retromer mediates the retrograde endosome-to-TGNtransport of WLS distinct from the SNX-BAR retromer pathway. TheSNX27-retromer is believed to be involved in endosome-to-plasmamembrane trafficking and recycling of a broad spectrum of cargoproteins (Probable). The CSC seems to act as recruitment hub forother proteins, such as the WASH complex and TBC1D5 (Probable).Required for retrograde transport of lysosomal enzyme receptorIGF2R (PubMed:15078902, PubMed:15078903). Required to regulatetranscytosis of the polymeric immunoglobulin receptor (pIgR-pIgA)(PubMed:15247922). Required for the endosomal localization ofWASHC2A (indicative for the WASH complex) (PubMed:22070227).Required for the endosomal localization of TBC1D5(PubMed:20923837). Mediates retromer cargo recognition of SORL1and is involved in trafficking of SORL1 implicated in sorting andprocessing of APP (PubMed:22279231). Involved in retromer-independent lysosomal sorting of F2R (PubMed:16407403). Involvedin recycling of ADRB2 (PubMed:21602791). Enhances the affinity ofSNX27 for PDZ-binding motifs in cargo proteins (By similarity).{ECO:0000250|UniProtKB:P40336, ECO:0000269|PubMed:15078902,ECO:0000269|PubMed:15078903, ECO:0000269|PubMed:15247922,ECO:0000269|PubMed:16407403, ECO:0000269|PubMed:22070227,ECO:0000269|PubMed:22279231, ECO:0000303|PubMed:20923837,ECO:0000303|PubMed:21602791, ECO:0000303|PubMed:21725319,ECO:0000303|PubMed:23563491, ECO:0000305}. 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 VPS26A_GYS1


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 VPS26A_GYS1


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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RelatedDrugs for VPS26A_GYS1


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 VPS26A_GYS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS26AC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human