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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: 40243

FusionGeneSummary for TYMP_PPP6R2

check button Fusion gene summary
Fusion gene informationFusion gene name: TYMP_PPP6R2
Fusion gene ID: 40243
HgeneTgene
Gene symbol

TYMP

PPP6R2

Gene ID

1890

9701

Gene namethymidine phosphorylaseprotein phosphatase 6 regulatory subunit 2
SynonymsECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGFKIAA0685|PP6R2|SAP190|SAPS2
Cytomap

22q13.33

22q13.33

Type of geneprotein-codingprotein-coding
Descriptionthymidine phosphorylasegliostatintdRPaseserine/threonine-protein phosphatase 6 regulatory subunit 2SAPS domain family, member 2
Modification date2018052320180519
UniProtAcc

P19971

O75170

Ensembl transtripts involved in fusion geneENST00000395680, ENST00000395681, 
ENST00000252029, ENST00000395678, 
ENST00000359139, ENST00000395741, 
ENST00000395744, ENST00000216061, 
Fusion gene scores* DoF score3 X 2 X 2=126 X 5 X 4=120
# samples 36
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TYMP [Title/Abstract] AND PPP6R2 [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
HgeneTYMP

GO:0006213

pyrimidine nucleoside metabolic process

1590793


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
TCGALDLUADTCGA-75-7031-01ATYMPchr22

50968333

-PPP6R2chr22

50810449

+
* 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-5UTRENST00000395680ENST00000359139TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395680ENST00000395741TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395680ENST00000395744TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-intronENST00000395680ENST00000216061TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395681ENST00000359139TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395681ENST00000395741TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395681ENST00000395744TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-intronENST00000395681ENST00000216061TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000252029ENST00000359139TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000252029ENST00000395741TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000252029ENST00000395744TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-intronENST00000252029ENST00000216061TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395678ENST00000359139TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395678ENST00000395741TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-5UTRENST00000395678ENST00000395744TYMPchr22

50968333

-PPP6R2chr22

50810449

+
5UTR-intronENST00000395678ENST00000216061TYMPchr22

50968333

-PPP6R2chr22

50810449

+

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FusionProtFeatures for TYMP_PPP6R2


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

P19971

PPP6R2

O75170

May have a role in maintaining the integrity of theblood vessels. Has growth promoting activity on endothelial cells,angiogenic activity in vivo and chemotactic activity onendothelial cells in vitro. {ECO:0000269|PubMed:1590793}. Catalyzes the reversible phosphorolysis of thymidine.The produced molecules are then utilized as carbon and energysources or in the rescue of pyrimidine bases for nucleotidesynthesis. {ECO:0000269|PubMed:1590793}. Regulatory subunit of protein phosphatase 6 (PP6). Mayfunction as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation inresponse to TNF-alpha. {ECO:0000269|PubMed:16769727}.

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 TYMP_PPP6R2


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 TYMP_PPP6R2


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
TYMPHSP90AA1, EEF2, GAPDH, EIF4E, NUDCD1, TYMP, SUSD3, CCDC94, DDX19B, ZSCAN20, GMCL1, RBM24, DERA, CDK15, GPATCH2L, TBC1D22B, PDE4DIP, FAM60A, PI4KA, KIAA0907PPP6R2TBK1, USP49, PLK1, PPP6C, PRKDC, ATXN1, APP, ANKRD28, MOB1A, MOB1B, PPP6R1, ACSL3, AIP, ALDH3A2, ANKRD44, ANKRD52, CACYBP, DPCD, ILVBL, NUDC, PFDN2, PFDN5, PFDN6, RUVBL2, SH3GLB2, TTC1, WDR92, PPP6R3, AURKA, SDCBP, PNKD, WNT10B, AP2M1, DCLRE1C, PRG2, NTRK1, XPO1, HYPK, POLRMT, MUL1, MYO5C, SLC27A2, MYO5B, TRMT2A, ACAD11, GORASP1, ZNF574, SCCPDH, ASPM, USP10, AP1B1, ZNF785, RPS6KA3, AP2A1, MYO5A, CAMK4, AP1G1, SLC26A6, SLC25A16, AP1S2, TMEM43, EXTL3, MYO1D, TRIM25


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 TYMP_PPP6R2


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 TYMP_PPP6R2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTYMPC0872218MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME4CTD_human;ORPHANET;UNIPROT
HgeneTYMPC0005695Bladder Neoplasm2CTD_human
HgeneTYMPC0009404Colorectal Neoplasms2CTD_human
HgeneTYMPC0009375Colonic Neoplasms1CTD_human
HgeneTYMPC0027627Neoplasm Metastasis1CTD_human
HgeneTYMPC0030297Pancreatic Neoplasm1CTD_human
HgeneTYMPC0038356Stomach Neoplasms1CTD_human
HgeneTYMPC0279626Squamous cell carcinoma of esophagus1CTD_human