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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: 37517

FusionGeneSummary for TBXAS1_TOMM7

check button Fusion gene summary
Fusion gene informationFusion gene name: TBXAS1_TOMM7
Fusion gene ID: 37517
HgeneTgene
Gene symbol

TBXAS1

TOMM7

Gene ID

6916

54543

Gene namethromboxane A synthase 1translocase of outer mitochondrial membrane 7
SynonymsBDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXSTOM7
Cytomap

7q34

7p15.3

Type of geneprotein-codingprotein-coding
Descriptionthromboxane-A synthaseTXA synthasecytochrome P450 5A1cytochrome P450, family 5, subfamily A, polypeptide 1platelet, cytochrome P450, subfamily Vthromboxane A synthase 1 (platelet)mitochondrial import receptor subunit TOM7 homolog6.2 kd proteintranslocase of outer membrane 7 kDa subunit homologtranslocase of outer mitochondrial membrane 7 homolog
Modification date2018051920180522
UniProtAcc

P24557

Q9P0U1

Ensembl transtripts involved in fusion geneENST00000425687, ENST00000263552, 
ENST00000336425, ENST00000436047, 
ENST00000416849, ENST00000414508, 
ENST00000448866, ENST00000455353, 
ENST00000458722, ENST00000411653, 
ENST00000462275, ENST00000539806, 
ENST00000463284, ENST00000358435, 
ENST00000405021, ENST00000372879, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TBXAS1 [Title/Abstract] AND TOMM7 [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
TCGARVSTADTCGA-KB-A93J-01ATBXAS1chr7

139529278

+TOMM7chr7

22857667

-
* 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-intronENST00000425687ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
intron-intronENST00000425687ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
intron-intronENST00000425687ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
intron-intronENST00000425687ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000263552ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000263552ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000263552ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000263552ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000336425ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000336425ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000336425ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000336425ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000436047ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000436047ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000436047ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000436047ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000416849ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000416849ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000416849ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000416849ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000414508ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000414508ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000414508ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000414508ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000448866ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000448866ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000448866ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000448866ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000455353ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000455353ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000455353ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000455353ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000458722ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000458722ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000458722ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000458722ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000411653ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000411653ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000411653ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000411653ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
3UTR-intronENST00000462275ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
3UTR-intronENST00000462275ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
3UTR-intronENST00000462275ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
3UTR-intronENST00000462275ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000539806ENST00000463284TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000539806ENST00000358435TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000539806ENST00000405021TBXAS1chr7

139529278

+TOMM7chr7

22857667

-
5CDS-intronENST00000539806ENST00000372879TBXAS1chr7

139529278

+TOMM7chr7

22857667

-

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FusionProtFeatures for TBXAS1_TOMM7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBXAS1

P24557

TOMM7

Q9P0U1

Required for assembly and stability of the TOM complex.Positive regulator of PRKN translocation to damaged mitochondria.Acts probably by stabilizing PINK1 on the outer membrane ofdepolarized mitochondria. {ECO:0000269|PubMed:18331822,ECO:0000269|PubMed:24270810}.

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 TBXAS1_TOMM7


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 TBXAS1_TOMM7


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
TBXAS1UBC, EEF1A2TOMM7TOMM40, TOMM22, TOMM70A, TOMM20, SDHB, NDUFB7, FAM3C, CISD1, UQCRFS1, SRSF3, ERGIC1, COX15, SFXN1, BAK1, TIMM50, SFXN2, ACAT1, PEX5


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 TBXAS1_TOMM7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTBXAS1P24557DB00795SulfasalazineThromboxane-A synthasesmall moleculeapproved

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RelatedDiseases for TBXAS1_TOMM7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBXAS1C0013182Drug Allergy1CTD_human
HgeneTBXAS1C0033578Prostatic Neoplasms1CTD_human
HgeneTBXAS1C1856465Ghosal Hematodiaphyseal Dysplasia1CTD_human;ORPHANET;UNIPROT