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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: 31748

FusionGeneSummary for RPAP2_TBXAS1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPAP2_TBXAS1
Fusion gene ID: 31748
HgeneTgene
Gene symbol

RPAP2

TBXAS1

Gene ID

79871

6916

Gene nameRNA polymerase II associated protein 2thromboxane A synthase 1
SynonymsC1orf82|Rtr1BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS
Cytomap

1p22.1

7q34

Type of geneprotein-codingprotein-coding
Descriptionputative RNA polymerase II subunit B1 CTD phosphatase RPAP2thromboxane-A synthaseTXA synthasecytochrome P450 5A1cytochrome P450, family 5, subfamily A, polypeptide 1platelet, cytochrome P450, subfamily Vthromboxane A synthase 1 (platelet)
Modification date2018052320180519
UniProtAcc

Q8IXW5

P24557

Ensembl transtripts involved in fusion geneENST00000610020, ENST00000484158, 
ENST00000425687, ENST00000263552, 
ENST00000336425, ENST00000436047, 
ENST00000416849, ENST00000414508, 
ENST00000448866, ENST00000455353, 
ENST00000458722, ENST00000411653, 
ENST00000462275, ENST00000539806, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RPAP2 [Title/Abstract] AND TBXAS1 [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
ChiTaRS3.1BF893936RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
* 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-intronENST00000610020ENST00000425687RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000263552RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000336425RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000436047RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000416849RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000414508RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000448866RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000455353RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000458722RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000411653RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000462275RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000610020ENST00000539806RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000425687RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000263552RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000336425RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000436047RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000416849RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000414508RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000448866RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000455353RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000458722RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000411653RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000462275RPAP2chr1

92813801

-TBXAS1chr7

139548448

+
intron-intronENST00000484158ENST00000539806RPAP2chr1

92813801

-TBXAS1chr7

139548448

+

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FusionProtFeatures for RPAP2_TBXAS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPAP2

Q8IXW5

TBXAS1

P24557

Protein phosphatase that displays CTD phosphataseactivity and regulates transcription of snRNA genes. Recognizesand binds phosphorylated 'Ser-7' of the C-terminal heptapeptiderepeat domain (CTD) of the largest RNA polymerase II subunitPOLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD,thereby promoting transcription of snRNA genes.{ECO:0000269|PubMed:17643375, ECO:0000269|PubMed:22137580,ECO:0000269|PubMed:24997600}.

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 RPAP2_TBXAS1


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 RPAP2_TBXAS1


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 RPAP2_TBXAS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTBXAS1P24557DB00795SulfasalazineThromboxane-A synthasesmall moleculeapproved

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RelatedDiseases for RPAP2_TBXAS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTBXAS1C0013182Drug Allergy1CTD_human
TgeneTBXAS1C0033578Prostatic Neoplasms1CTD_human
TgeneTBXAS1C1856465Ghosal Hematodiaphyseal Dysplasia1CTD_human;ORPHANET;UNIPROT