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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: 41317

FusionGeneSummary for UXS1_VTI1A

check button Fusion gene summary
Fusion gene informationFusion gene name: UXS1_VTI1A
Fusion gene ID: 41317
HgeneTgene
Gene symbol

UXS1

VTI1A

Gene ID

80146

143187

Gene nameUDP-glucuronate decarboxylase 1vesicle transport through interaction with t-SNAREs 1A
SynonymsSDR6E1|UGDMMDS3|MVti1|VTI1RP2|Vti1-rp2
Cytomap

2q12.2

10q25.2

Type of geneprotein-codingprotein-coding
DescriptionUDP-glucuronic acid decarboxylase 1UXS-1short chain dehydrogenase/reductase family 6E, member 12vesicle transport through interaction with t-SNAREs homolog 1ASNARE Vti1a-beta proteinvesicle transport v-SNARE protein Vti1-like 2
Modification date2018052320180523
UniProtAcc

Q8NBZ7

Q96AJ9

Ensembl transtripts involved in fusion geneENST00000283148, ENST00000540130, 
ENST00000409501, ENST00000409032, 
ENST00000428048, ENST00000479621, 
ENST00000432306, ENST00000393077, 
ENST00000483122, 
Fusion gene scores* DoF score4 X 4 X 3=488 X 5 X 8=320
# samples 413
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/320*10)=-1.29956028185891
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UXS1 [Title/Abstract] AND VTI1A [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
HgeneUXS1

GO:0051262

protein tetramerization

23656592

TgeneVTI1A

GO:0042147

retrograde transport, endosome to Golgi

15215310|18195106


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
ChiTaRS3.1BF367966UXS1chr2

106710518

+VTI1Achr10

114374416

+
* 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
intron-intronENST00000283148ENST00000432306UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000283148ENST00000393077UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000283148ENST00000483122UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000540130ENST00000432306UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000540130ENST00000393077UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000540130ENST00000483122UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000409501ENST00000432306UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000409501ENST00000393077UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000409501ENST00000483122UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000409032ENST00000432306UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000409032ENST00000393077UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000409032ENST00000483122UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000428048ENST00000432306UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000428048ENST00000393077UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000428048ENST00000483122UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000479621ENST00000432306UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000479621ENST00000393077UXS1chr2

106710518

+VTI1Achr10

114374416

+
intron-intronENST00000479621ENST00000483122UXS1chr2

106710518

+VTI1Achr10

114374416

+

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FusionProtFeatures for UXS1_VTI1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UXS1

Q8NBZ7

VTI1A

Q96AJ9

Catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose. Necessary for the biosynthesis ofthe core tetrasaccharide in glycosaminoglycan biosynthesis. V-SNARE that mediates vesicle transport pathways throughinteractions with t-SNAREs on the target membrane. Theseinteractions are proposed to mediate aspects of the specificity ofvesicle trafficking and to promote fusion of the lipid bilayers.Involved in vesicular transport from the late endosomes to thetrans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface usedby KCNIP1 and KCND2. May be involved in increased cytokinesecretion associated with cellular senescence.{ECO:0000269|PubMed:18195106, ECO:0000269|PubMed:19138172}.

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 UXS1_VTI1A


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 UXS1_VTI1A


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 UXS1_VTI1A


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 UXS1_VTI1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUXS1C0376634Craniofacial Abnormalities1CTD_human
TgeneVTI1AC0001418Adenocarcinoma1CTD_human
TgeneVTI1AC0009404Colorectal Neoplasms1CTD_human