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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: 37631

FusionGeneSummary for TCOF1_GPX3

check button Fusion gene summary
Fusion gene informationFusion gene name: TCOF1_GPX3
Fusion gene ID: 37631
HgeneTgene
Gene symbol

TCOF1

GPX3

Gene ID

6949

2878

Gene nametreacle ribosome biogenesis factor 1glutathione peroxidase 3
SynonymsMFD1|TCS|TCS1|treacleGPx-P|GSHPx-3|GSHPx-P
Cytomap

5q32-q33.1

5q33.1

Type of geneprotein-codingprotein-coding
Descriptiontreacle proteinTreacher Collins syndrome proteinTreacher Collins-Franceschetti syndrome 1nucleolar trafficking phosphoproteinglutathione peroxidase 3GPx-3extracellular glutathione peroxidaseglutathione peroxidase 3 (plasma)plasma glutathione peroxidase
Modification date2018052220180519
UniProtAcc

Q13428

P22352

Ensembl transtripts involved in fusion geneENST00000451292, ENST00000377797, 
ENST00000445265, ENST00000323668, 
ENST00000439160, ENST00000394269, 
ENST00000504761, ENST00000513346, 
ENST00000506063, 
ENST00000388825, 
ENST00000521722, ENST00000517973, 
Fusion gene scores* DoF score4 X 4 X 2=325 X 9 X 2=90
# samples 410
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/90*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TCOF1 [Title/Abstract] AND GPX3 [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
TgeneGPX3

GO:0051289

protein homotetramerization

3693360


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
TCGALDSTADTCGA-BR-8289-01ATCOF1chr5

149740774

+GPX3chr5

150404901

+
* 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-shitENST00000451292ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000451292ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000451292ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000377797ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000377797ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000377797ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000445265ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000445265ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000445265ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000323668ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000323668ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000323668ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000439160ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000439160ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000439160ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000394269ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000394269ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000394269ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000504761ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000504761ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000504761ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
Frame-shitENST00000513346ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-3UTRENST00000513346ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
5CDS-intronENST00000513346ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+
intron-3CDSENST00000506063ENST00000388825TCOF1chr5

149740774

+GPX3chr5

150404901

+
intron-3UTRENST00000506063ENST00000521722TCOF1chr5

149740774

+GPX3chr5

150404901

+
intron-intronENST00000506063ENST00000517973TCOF1chr5

149740774

+GPX3chr5

150404901

+

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FusionProtFeatures for TCOF1_GPX3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TCOF1

Q13428

GPX3

P22352

Nucleolar protein that acts as a regulator of RNApolymerase I by connecting RNA polymerase I with enzymesresponsible for ribosomal processing and modification(PubMed:12777385, PubMed:26399832). Required for neural crestspecification: following monoubiquitination by the BCR(KBTBD8)complex, associates with NOLC1 and acts as a platform to connectRNA polymerase I with enzymes responsible for ribosomal processingand modification, leading to remodel the translational program ofdifferentiating cells in favor of neural crest specification(PubMed:26399832). {ECO:0000269|PubMed:12777385,ECO:0000269|PubMed:26399832}. Protects cells and enzymes from oxidative damage, bycatalyzing the reduction of hydrogen peroxide, lipid peroxides andorganic hydroperoxide, by glutathione.

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 TCOF1_GPX3


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 TCOF1_GPX3


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
TCOF1ARRB2, ARRB1, USP44, WDR48, GPN1, TERF2, NOP56, TOP1, SIRT7, CAND1, GRK5, NDUFV1, OXCT1, SEC22B, S100A16, HPDL, SEPT11, SIX4, PPT1, SRSF10, NPTX1, ESR1, ECT2, PNKP, PAN2, IGSF8, ICAM1, TM9SF1, SRPK2, RPA1, RPA2, RPA3, LGR4, CSNK2A2, CDK2, LIN28A, PRKRA, TARBP2, CUL7, OBSL1, EED, SIRT6, ZBTB38, DENND2D, RASSF9, NTRK1, OFD1, XPO1, HIST1H3E, AKT1, SORT1, BECN1, RASSF8, L1TD1, BAG6, KBTBD8, NOLC1, POLR1A, POLR1B, DKC1, NHP2, NOP58, CSNK2A1, EGFR, CAMKV, PIP4K2A, UBC, ZNHIT2, TRIM25, BRCA1GPX3GPX3, UBQLN1, TP53I3


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 TCOF1_GPX3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGPX3P22352DB00143GlutathioneGlutathione peroxidase 3small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for TCOF1_GPX3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTCOF1C0242387Mandibulofacial Dysostosis2CTD_human;ORPHANET;UNIPROT
HgeneTCOF1C0376634Craniofacial Abnormalities1CTD_human
TgeneGPX3C0014175Endometriosis2CTD_human
TgeneGPX3C0024121Lung Neoplasms2CTD_human
TgeneGPX3C0028754Obesity2CTD_human
TgeneGPX3C0001418Adenocarcinoma1CTD_human
TgeneGPX3C0015624Fanconi Syndrome1CTD_human
TgeneGPX3C0021655Insulin Resistance1CTD_human
TgeneGPX3C0023903Liver neoplasms1CTD_human
TgeneGPX3C0033578Prostatic Neoplasms1CTD_human
TgeneGPX3C0524851Neurodegenerative Disorders1CTD_human