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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: 29692

FusionGeneSummary for PUS7_EFCAB10

check button Fusion gene summary
Fusion gene informationFusion gene name: PUS7_EFCAB10
Fusion gene ID: 29692
HgeneTgene
Gene symbol

PUS7

EFCAB10

Gene ID

54517

100130771

Gene namepseudouridylate synthase 7EF-hand calcium binding domain 10
Synonyms--
Cytomap

7q22.3

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionpseudouridylate synthase 7 homologpseudouridylate synthase 7 (putative)EF-hand calcium-binding domain-containing protein 10EF-hand domain-containing protein
Modification date2018052320180421
UniProtAcc

Q96PZ0

A6NFE3

Ensembl transtripts involved in fusion geneENST00000356362, ENST00000469408, 
ENST00000480514, ENST00000485614, 
ENST00000486180, ENST00000490493, 
ENST00000460135, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 1 X 3=9
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PUS7 [Title/Abstract] AND EFCAB10 [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

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-E2-A1LE-01APUS7chr7

105162499

-EFCAB10chr7

105210018

-
* 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-3CDSENST00000356362ENST00000480514PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-3CDSENST00000356362ENST00000485614PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-3CDSENST00000356362ENST00000486180PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-5UTRENST00000356362ENST00000490493PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-intronENST00000356362ENST00000460135PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-3CDSENST00000469408ENST00000480514PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-3CDSENST00000469408ENST00000485614PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-3CDSENST00000469408ENST00000486180PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-5UTRENST00000469408ENST00000490493PUS7chr7

105162499

-EFCAB10chr7

105210018

-
5UTR-intronENST00000469408ENST00000460135PUS7chr7

105162499

-EFCAB10chr7

105210018

-

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FusionProtFeatures for PUS7_EFCAB10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PUS7

Q96PZ0

EFCAB10

A6NFE3

Pseudouridylate synthase that catalyzespseudouridylation of RNAs (PubMed:28073919, PubMed:29628141). Actsas a regulator of protein synthesis in embryonic stem cells bymediating pseudouridylation of RNA fragments derived from tRNAs(tRFs): pseudouridylated tRFs inhibit translation by targeting thetranslation initiation complex (PubMed:29628141). Also catalyzespseudouridylation of mRNAs: mediates pseudouridylation of mRNAswith the consensus sequence 5'-UGUAG-3' (PubMed:28073919). Inaddition to mRNAs and tRNAs, binds other types of RNAs, such assnRNAs, Y RNAs and vault RNAs, suggesting that it can catalyzepseudouridylation of many RNA types (PubMed:29628141).{ECO:0000269|PubMed:28073919, ECO:0000269|PubMed:29628141}.

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 PUS7_EFCAB10


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 PUS7_EFCAB10


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
PUS7ELAVL1, WDR74, SIRT1, HSPH1, DPYSL2, HSPA4L, IDE, STAT3, THUMPD1, ACOT13, ACTN4, BYSL, DDX3X, DHX15, DHX16, DOHH, EIF4G1, EIF4G3, ENOPH1, MCM3, MCM5, NHP2L1, NOC3L, NSUN2, POLR2D, POLR2G, ACTR6, CTPS1, ENO1, ENO2, ENO3, FBL, GAR1, GBF1, NMD3, RBM8A, SSB, TJP2, NTRK1, EWSR1, CXXC4, FGB, TRIM25EFCAB10


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 PUS7_EFCAB10


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 PUS7_EFCAB10


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