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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: 40852

FusionGeneSummary for UPF2_MTAP

check button Fusion gene summary
Fusion gene informationFusion gene name: UPF2_MTAP
Fusion gene ID: 40852
HgeneTgene
Gene symbol

UPF2

MTAP

Gene ID

26019

4507

Gene nameUPF2, regulator of nonsense mediated mRNA decaymethylthioadenosine phosphorylase
SynonymsHUPF2|RENT2|smg-3BDMF|DMSFH|DMSMFH|HEL-249|LGMBF|MSAP|c86fus
Cytomap

10p14

9p21.3

Type of geneprotein-codingprotein-coding
Descriptionregulator of nonsense transcripts 2FRS2/UPF2/LEMD3 fusionLEMD3/UPF2 fusionUPF2 regulator of nonsense transcripts homolognonsense mRNA reducing factor 2smg-3 homolog, nonsense mediated mRNA decay factorup-frameshift suppressor 2 homologyeast Upf2p hS-methyl-5'-thioadenosine phosphorylase5'-methylthioadenosine phosphorylaseMTA phosphorylaseMTAPaseMeSAdo phosphorylaseepididymis luminal protein 249
Modification date2018052320180523
UniProtAcc

Q9HAU5

Q13126

Ensembl transtripts involved in fusion geneENST00000356352, ENST00000357604, 
ENST00000397053, ENST00000460569, 
ENST00000580900, ENST00000380172, 
ENST00000460874, ENST00000427788, 
Fusion gene scores* DoF score5 X 5 X 3=754 X 3 X 3=36
# samples 54
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UPF2 [Title/Abstract] AND MTAP [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
TgeneMTAP

GO:0006738

nicotinamide riboside catabolic process

19001417


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
ChiTaRS3.1CR738223UPF2chr10

12011461

-MTAPchr9

21861026

+
* 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-intronENST00000356352ENST00000580900UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000356352ENST00000380172UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000356352ENST00000460874UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000356352ENST00000427788UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000357604ENST00000580900UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000357604ENST00000380172UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000357604ENST00000460874UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000357604ENST00000427788UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000397053ENST00000580900UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000397053ENST00000380172UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000397053ENST00000460874UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000397053ENST00000427788UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000460569ENST00000580900UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000460569ENST00000380172UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000460569ENST00000460874UPF2chr10

12011461

-MTAPchr9

21861026

+
intron-intronENST00000460569ENST00000427788UPF2chr10

12011461

-MTAPchr9

21861026

+

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FusionProtFeatures for UPF2_MTAP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UPF2

Q9HAU5

MTAP

Q13126


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 UPF2_MTAP


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 UPF2_MTAP


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 UPF2_MTAP


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 UPF2_MTAP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMTAPC0025202melanoma1CTD_human
TgeneMTAPC0027960Nevus1CTD_human
TgeneMTAPC0033578Prostatic Neoplasms1CTD_human