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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: 41293

FusionGeneSummary for UVRAG_KIRREL3

check button Fusion gene summary
Fusion gene informationFusion gene name: UVRAG_KIRREL3
Fusion gene ID: 41293
HgeneTgene
Gene symbol

UVRAG

KIRREL3

Gene ID

7405

84623

Gene nameUV radiation resistance associatedkirre like nephrin family adhesion molecule 3
SynonymsDHTX|VPS38|p63KIRRE|MRD4|NEPH2|PRO4502
Cytomap

11q13.5

11q24.2

Type of geneprotein-codingprotein-coding
DescriptionUV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxykin of IRRE-like protein 3kin of IRRE like 3kin of irregular chiasm-like protein 3nephrin-like 2nephrin-like protein 2
Modification date2018052320180329
UniProtAcc

Q9P2Y5

Q8IZU9

Ensembl transtripts involved in fusion geneENST00000356136, ENST00000528420, 
ENST00000533454, ENST00000531818, 
ENST00000532130, ENST00000539288, 
ENST00000525872, ENST00000538870, 
ENST00000525144, ENST00000529097, 
ENST00000525704, ENST00000533026, 
ENST00000416561, 
Fusion gene scores* DoF score29 X 10 X 12=34807 X 5 X 3=105
# samples 296
** MAII scorelog2(29/3480*10)=-3.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/105*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UVRAG [Title/Abstract] AND KIRREL3 [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
TCGALDBRCATCGA-AR-A2LJ-01AUVRAGchr11

75728024

+KIRREL3chr11

126432807

-
* 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-shiftENST00000356136ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000356136ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000356136ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-5UTRENST00000356136ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-intronENST00000356136ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000528420ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000528420ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000528420ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-5UTRENST00000528420ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-intronENST00000528420ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000533454ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000533454ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000533454ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-5UTRENST00000533454ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-intronENST00000533454ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000531818ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000531818ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000531818ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-5UTRENST00000531818ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-intronENST00000531818ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000532130ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000532130ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000532130ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-5UTRENST00000532130ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-intronENST00000532130ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000539288ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000539288ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
Frame-shiftENST00000539288ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-5UTRENST00000539288ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
5CDS-intronENST00000539288ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-3CDSENST00000525872ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-3CDSENST00000525872ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-3CDSENST00000525872ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-5UTRENST00000525872ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-intronENST00000525872ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-3CDSENST00000538870ENST00000525144UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-3CDSENST00000538870ENST00000529097UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-3CDSENST00000538870ENST00000525704UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-5UTRENST00000538870ENST00000533026UVRAGchr11

75728024

+KIRREL3chr11

126432807

-
intron-intronENST00000538870ENST00000416561UVRAGchr11

75728024

+KIRREL3chr11

126432807

-

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FusionProtFeatures for UVRAG_KIRREL3


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

Q9P2Y5

KIRREL3

Q8IZU9

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}. Synaptic adhesion molecule required for the formation oftarget-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Requiredfor formation of mossy fiber filopodia, the synaptic structuresconnecting dentate granule and GABA neurons. Probably acts as ahomophilic adhesion molecule that promotes trans-cellularinteractions and stabilize mossy fiber filipodia contact andsubsequent synapse formation. Required for the coalescence ofvomeronasal sensory neuron axons. May be involved in thehematopoietic supportive capacity of stroma cells; the secretedextracellular domain is directly responsible for supportinghematopoietic stem cells. {ECO:0000250|UniProtKB:Q8BR86}.

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 UVRAG_KIRREL3


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 UVRAG_KIRREL3


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, KIAA0226LKIRREL3


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 UVRAG_KIRREL3


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 UVRAG_KIRREL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKIRREL3C2675487Mental Retardation, Autosomal Dominant 41CTD_human;UNIPROT