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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: 8161

FusionGeneSummary for COX18_TBCD

check button Fusion gene summary
Fusion gene informationFusion gene name: COX18_TBCD
Fusion gene ID: 8161
HgeneTgene
Gene symbol

COX18

TBCD

Gene ID

285521

6904

Gene nameCOX18, cytochrome c oxidase assembly factortubulin folding cofactor D
SynonymsCOX18HSPEBAT|SSD-1|tfcD
Cytomap

4q13.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase assembly protein COX18, mitochondrialcytochrome c oxidase assembly homolog 18cytochrome c oxidase assembly protein 18mitochondrial inner membrane protein COX18tubulin-specific chaperone Dbeta-tubulin cofactor D
Modification date2018051920180523
UniProtAcc

Q8N8Q8

Q9BTW9

Ensembl transtripts involved in fusion geneENST00000295890, ENST00000507544, 
ENST00000421792, 
ENST00000355528, 
ENST00000397466, ENST00000539345, 
ENST00000576691, 
Fusion gene scores* DoF score2 X 2 X 1=48 X 7 X 8=448
# samples 29
** MAII scorelog2(2/4*10)=2.32192809488736log2(9/448*10)=-2.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COX18 [Title/Abstract] AND TBCD [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
HgeneCOX18

GO:0032979

protein insertion into mitochondrial membrane from inner side

28330871

TgeneTBCD

GO:0006457

protein folding

20740604

TgeneTBCD

GO:0007021

tubulin complex assembly

28158450

TgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

TgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604


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-A2-A0T1-01ACOX18chr4

73927530

-TBCDchr17

80861281

+
* 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-shiftENST00000295890ENST00000355528COX18chr4

73927530

-TBCDchr17

80861281

+
Frame-shiftENST00000295890ENST00000397466COX18chr4

73927530

-TBCDchr17

80861281

+
Frame-shiftENST00000295890ENST00000539345COX18chr4

73927530

-TBCDchr17

80861281

+
5CDS-intronENST00000295890ENST00000576691COX18chr4

73927530

-TBCDchr17

80861281

+
Frame-shiftENST00000507544ENST00000355528COX18chr4

73927530

-TBCDchr17

80861281

+
Frame-shiftENST00000507544ENST00000397466COX18chr4

73927530

-TBCDchr17

80861281

+
Frame-shiftENST00000507544ENST00000539345COX18chr4

73927530

-TBCDchr17

80861281

+
5CDS-intronENST00000507544ENST00000576691COX18chr4

73927530

-TBCDchr17

80861281

+
intron-3CDSENST00000421792ENST00000355528COX18chr4

73927530

-TBCDchr17

80861281

+
intron-3CDSENST00000421792ENST00000397466COX18chr4

73927530

-TBCDchr17

80861281

+
intron-3CDSENST00000421792ENST00000539345COX18chr4

73927530

-TBCDchr17

80861281

+
intron-intronENST00000421792ENST00000576691COX18chr4

73927530

-TBCDchr17

80861281

+

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FusionProtFeatures for COX18_TBCD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COX18

Q8N8Q8

TBCD

Q9BTW9

Mitochondrial membrane insertase required for thetranslocation of the C-terminus of cytochrome c oxidase subunit II(MT-CO2/COX2) across the mitochondrial inner membrane. Plays arole in MT-CO2/COX2 maturation following the COX20-mediatedstabilization of newly synthesized MT-CO2/COX2 protein and beforethe action of the metallochaperones SCO1/2. Essential for theassembly and stability of the mitochondrial respiratory chaincomplex IV (also known as cytochrome c oxidase).{ECO:0000269|PubMed:16911509, ECO:0000269|PubMed:28330871}.

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 COX18_TBCD


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 COX18_TBCD


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
COX18VNN2TBCDPPP2CA, ARL2, XRCC6, TERF1, ACD, POT1, APP, SMAD9, POLR2I, APEH, HIST1H1C, NASP, NMI, SNX2, STAT3, ACBD3, ATG7, CUL3, GORASP2, GTF2A1, ME1, RPUSD2, SARS, SH3GLB2, STAT1, VPS25, TOM1, TSN, VPS29, WDR12, ABCE1, BSG, TUBB2A, TUBB2B, SCN2B, HTR6, PSMD5, TPM3, TPM4, NTRK1, KRAS, FAF2, TUBB, LRRC4, NCR3LG1, VSIG1, CRYL1, IL1R2, IL17RA, TCP11L1, ZNF146, ZNF836, MTNR1B, 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 COX18_TBCD


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 COX18_TBCD


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