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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: 8117

FusionGeneSummary for COQ10B_KIF3A

check button Fusion gene summary
Fusion gene informationFusion gene name: COQ10B_KIF3A
Fusion gene ID: 8117
HgeneTgene
Gene symbol

COQ10B

KIF3A

Gene ID

80219

11127

Gene namecoenzyme Q10Bkinesin family member 3A
Synonyms-FLA10|KLP-20
Cytomap

2q33.1

5q31.1

Type of geneprotein-codingprotein-coding
Descriptioncoenzyme Q-binding protein COQ10 homolog B, mitochondrialcoenzyme Q10 homolog Bkinesin-like protein KIF3Akinesin family protein 3Amicrotubule plus end-directed kinesin motor 3A
Modification date2018052320180527
UniProtAcc

Q9H8M1

Q9Y496

Ensembl transtripts involved in fusion geneENST00000263960, ENST00000409398, 
ENST00000488445, ENST00000545340, 
ENST00000409010, 
ENST00000378746, 
ENST00000378735, ENST00000403231, 
ENST00000487055, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 3 X 5=105
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COQ10B [Title/Abstract] AND KIF3A [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
ChiTaRS3.1AK308977COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
* 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
3UTR-3UTRENST00000263960ENST00000378746COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
3UTR-intronENST00000263960ENST00000378735COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
3UTR-intronENST00000263960ENST00000403231COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
3UTR-intronENST00000263960ENST00000487055COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-3UTRENST00000409398ENST00000378746COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-intronENST00000409398ENST00000378735COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-intronENST00000409398ENST00000403231COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-intronENST00000409398ENST00000487055COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-3UTRENST00000488445ENST00000378746COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-intronENST00000488445ENST00000378735COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-intronENST00000488445ENST00000403231COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
intron-intronENST00000488445ENST00000487055COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-3UTRENST00000545340ENST00000378746COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-intronENST00000545340ENST00000378735COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-intronENST00000545340ENST00000403231COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-intronENST00000545340ENST00000487055COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-3UTRENST00000409010ENST00000378746COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-intronENST00000409010ENST00000378735COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-intronENST00000409010ENST00000403231COQ10Bchr2

198339134

+KIF3Achr5

132029426

-
5CDS-intronENST00000409010ENST00000487055COQ10Bchr2

198339134

+KIF3Achr5

132029426

-

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FusionProtFeatures for COQ10B_KIF3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COQ10B

Q9H8M1

KIF3A

Q9Y496

Required for the function of coenzyme Q in therespiratory chain. May serve as a chaperone or may be involved inthe transport of Q6 from its site of synthesis to the catalyticsites of the respiratory complexes (By similarity). {ECO:0000250}. Microtubule-based anterograde translocator formembranous organelles. Plus end-directed microtubule slidingactivity in vitro. Plays a role in primary cilia formation. Playsa role in centriole cohesion and subdistal appendage organizationand function. Regulates the formation of the subdistal appendagevia recruitement of DCTN1 to the centriole. Also required forciliary basal feet formation and microtubule anchoring to mothercentriole. {ECO:0000250|UniProtKB:P28741}.

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 COQ10B_KIF3A


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 COQ10B_KIF3A


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 COQ10B_KIF3A


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 COQ10B_KIF3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKIF3AC0004096Asthma1CTD_human
TgeneKIF3AC0005941Bone Diseases, Developmental1CTD_human
TgeneKIF3AC0152427Polydactyly1CTD_human
TgeneKIF3AC0376634Craniofacial Abnormalities1CTD_human