FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 41301

FusionGeneSummary for UVRAG_PACRG

check button Fusion gene summary
Fusion gene informationFusion gene name: UVRAG_PACRG
Fusion gene ID: 41301
HgeneTgene
Gene symbol

UVRAG

PACRG

Gene ID

7405

135138

Gene nameUV radiation resistance associatedparkin coregulated
SynonymsDHTX|VPS38|p63GLUP|HAK005771|PARK2CRG
Cytomap

11q13.5

6q26

Type of geneprotein-codingprotein-coding
DescriptionUV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxyparkin coregulated gene proteinPARK2 co-regulatedPARK2 coregulatedmolecular chaperone/chaperonin-binding proteinparkin co-regulated gene protein
Modification date2018052320180523
UniProtAcc

Q9P2Y5

Q96M98

Ensembl transtripts involved in fusion geneENST00000356136, ENST00000528420, 
ENST00000533454, ENST00000531818, 
ENST00000532130, ENST00000539288, 
ENST00000525872, ENST00000538870, 
ENST00000337019, ENST00000366889, 
ENST00000366888, ENST00000542669, 
Fusion gene scores* DoF score29 X 10 X 12=34808 X 6 X 11=528
# samples 2912
** MAII scorelog2(29/3480*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/528*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UVRAG [Title/Abstract] AND PACRG [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneUVRAG

GO:0071900

regulation of protein serine/threonine kinase activity

22542840

HgeneUVRAG

GO:0097680

double-strand break repair via classical nonhomologous end joining

22542840


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
TCGARVSTADTCGA-BR-4366-01AUVRAGchr11

75776832

+PACRGchr6

163733811

+
* 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-shiftENST00000356136ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000356136ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000356136ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000356136ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
Frame-shiftENST00000528420ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000528420ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000528420ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000528420ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
Frame-shiftENST00000533454ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000533454ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000533454ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000533454ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
Frame-shiftENST00000531818ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000531818ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000531818ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000531818ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
Frame-shiftENST00000532130ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000532130ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000532130ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000532130ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
Frame-shiftENST00000539288ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000539288ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000539288ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
5CDS-intronENST00000539288ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-3CDSENST00000525872ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-intronENST00000525872ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-intronENST00000525872ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-intronENST00000525872ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-3CDSENST00000538870ENST00000337019UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-intronENST00000538870ENST00000366889UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-intronENST00000538870ENST00000366888UVRAGchr11

75776832

+PACRGchr6

163733811

+
intron-intronENST00000538870ENST00000542669UVRAGchr11

75776832

+PACRGchr6

163733811

+

Top

FusionProtFeatures for UVRAG_PACRG


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

Q9P2Y5

PACRG

Q96M98

Versatile protein that is involved in regulation ofdifferent cellular pathways implicated in membrane trafficking.Involved in regulation of the COPI-dependent retrograde transportfrom Golgi and the endoplasmic reticulum by associating with theNRZ complex; the function is dependent on its binding tophosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:24056303).During autophagy acts as regulatory subunit of the alternativePI3K complex II (PI3KC3-C2) that mediates formation ofphosphatidylinositol 3-phosphate and is believed to be involved inmaturation of autophagosomes and endocytosis. Activates lipidkinase activity of PIK3C3. Involved in the regulation ofdegradative endocytic trafficking and cytokinesis, and inregulation of ATG9A transport from the Golgi to the autophagosome;the functions seems to implicate its association with PI3KC3-C2(PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved inmaturation of autophagosomes and degradative endocytic traffickingindependently of BECN1 but depending on its association with aclass C Vps complex (possibly the HOPS complex); the associationis also proposed to promote autophagosome recruitment andactivation of Rab7 and endosome-endosome fusion events(PubMed:18552835). Enhances class C Vps complex (possibly HOPScomplex) association with a SNARE complex and promotes fusogenicSNARE complex formation during late endocytic membrane fusion(PubMed:24550300). In case of negative-strand RNA virus infectionis required for efficient virus entry, promotes endocytictransport of virions and is implicated in a VAMP8-specificfusogenic SNARE complex assembly (PubMed:24550300).{ECO:0000269|PubMed:18552835, ECO:0000269|PubMed:20643123,ECO:0000269|PubMed:24056303, ECO:0000305}. Involved in maintaining chromosomal stability. PromotesDNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required forcentrosome stability and proper chromosome segregation(PubMed:22542840). {ECO:0000269|PubMed:22542840}. Suppresses cell death induced by accumulation ofunfolded Pael receptor (Pael-R, a substrate of Parkin).Facilitates the formation of inclusions consisting of Pael-R,molecular chaperones, protein degradation molecules and itselfwhen proteasome is inhibited. May play an important role in theformation of Lewy bodies and protection of dopaminergic neuronsagainst Parkinson disease. {ECO:0000269|PubMed:14532270}.

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


Top

FusionGeneSequence for UVRAG_PACRG


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).

Top

FusionGenePPI for UVRAG_PACRG


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
UVRAGBECN1, PIK3C3, VPS33A, VPS18, PIK3R4, PTPRA, KIAA0226, TGFBRAP1, VPS16, VPS11, VPS33B, VPS39, YWHAE, RALB, USP18, XPO1, MYO1C, DDB1, DDB2, CUL4A, RBX1, KIAA0226LPACRGHSP90AA1, CCT3, CCT4, CCT5, TCP1, CCT6A, CCT7, CCT2, TUBA1A, TUBB, HSPA4, PARK2, STUB1, DNAJA1, VCP, GPR37, APP, KLHL36, TP53, STIP1, CCDC40


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


Top

RelatedDrugs for UVRAG_PACRG


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

Top

RelatedDiseases for UVRAG_PACRG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource