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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: 20310

FusionGeneSummary for LRTOMT_UVRAG

check button Fusion gene summary
Fusion gene informationFusion gene name: LRTOMT_UVRAG
Fusion gene ID: 20310
HgeneTgene
Gene symbol

LRTOMT

UVRAG

Gene ID

220074

7405

Gene nameleucine rich transmembrane and O-methyltransferase domain containingUV radiation resistance associated
SynonymsCFAP111|DFNB63|LRRC51DHTX|VPS38|p63
Cytomap

11q13.4

11q13.5

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane O-methyltransferaseleucine-rich repeat-containing protein 51leucine rich transmembrane and 0-methyltransferase domain containingUV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxy
Modification date2018052320180523
UniProtAcc

Q96E66

Q9P2Y5

Ensembl transtripts involved in fusion geneENST00000435085, ENST00000307198, 
ENST00000419228, ENST00000447974, 
ENST00000289488, ENST00000539271, 
ENST00000423494, ENST00000539587, 
ENST00000538478, ENST00000324866, 
ENST00000439209, ENST00000541614, 
ENST00000536917, ENST00000440313, 
ENST00000356136, ENST00000528420, 
ENST00000533454, ENST00000531818, 
ENST00000532130, ENST00000539288, 
ENST00000525872, ENST00000538870, 
Fusion gene scores* DoF score6 X 6 X 2=7224 X 13 X 11=3432
# samples 725
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(25/3432*10)=-3.77904955283746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRTOMT [Title/Abstract] AND UVRAG [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
TgeneUVRAG

GO:0071900

regulation of protein serine/threonine kinase activity

22542840

TgeneUVRAG

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
TCGARVBRCATCGA-A8-A08S-01ALRTOMTchr11

71791931

+UVRAGchr11

75718578

+
* 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-3CDSENST00000435085ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000435085ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000435085ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000435085ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000435085ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000435085ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000435085ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000435085ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000307198ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000307198ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000307198ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000307198ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000307198ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000307198ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000307198ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000307198ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000419228ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000419228ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000419228ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000419228ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000419228ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000419228ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000419228ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000419228ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000447974ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000447974ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000447974ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000447974ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000447974ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000447974ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000447974ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000447974ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000289488ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000289488ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000289488ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000289488ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000289488ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000289488ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000289488ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000289488ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000539271ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000539271ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539271ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539271ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539271ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539271ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000539271ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000539271ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000423494ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000423494ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000423494ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000423494ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000423494ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000423494ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000423494ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000423494ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000539587ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000539587ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539587ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539587ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539587ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000539587ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000539587ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000539587ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000538478ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000538478ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000538478ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000538478ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000538478ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000538478ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000538478ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000538478ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000324866ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000324866ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000324866ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000324866ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000324866ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000324866ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000324866ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000324866ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000439209ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-3CDSENST00000439209ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000439209ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000439209ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000439209ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-5UTRENST00000439209ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000439209ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
5UTR-intronENST00000439209ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-3CDSENST00000541614ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-3CDSENST00000541614ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000541614ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000541614ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000541614ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000541614ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-intronENST00000541614ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-intronENST00000541614ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-3CDSENST00000536917ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-3CDSENST00000536917ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000536917ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000536917ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000536917ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000536917ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-intronENST00000536917ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-intronENST00000536917ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-3CDSENST00000440313ENST00000356136LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-3CDSENST00000440313ENST00000528420LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000440313ENST00000533454LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000440313ENST00000531818LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000440313ENST00000532130LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-5UTRENST00000440313ENST00000539288LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-intronENST00000440313ENST00000525872LRTOMTchr11

71791931

+UVRAGchr11

75718578

+
intron-intronENST00000440313ENST00000538870LRTOMTchr11

71791931

+UVRAGchr11

75718578

+

Top

FusionProtFeatures for LRTOMT_UVRAG


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

Q96E66

UVRAG

Q9P2Y5

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}.

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 LRTOMT_UVRAG


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 LRTOMT_UVRAG


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
LRTOMTELAVL1, JOSD2UVRAGBECN1, PIK3C3, VPS33A, VPS18, PIK3R4, PTPRA, KIAA0226, TGFBRAP1, VPS16, VPS11, VPS33B, VPS39, YWHAE, RALB, USP18, XPO1, MYO1C, DDB1, DDB2, CUL4A, RBX1, KIAA0226L


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 LRTOMT_UVRAG


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 LRTOMT_UVRAG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRTOMTC1969621DEAFNESS, AUTOSOMAL RECESSIVE 632CTD_human;UNIPROT