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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: 8181

FusionGeneSummary for COX6C_PCYT1A

check button Fusion gene summary
Fusion gene informationFusion gene name: COX6C_PCYT1A
Fusion gene ID: 8181
HgeneTgene
Gene symbol

COX6C

PCYT1A

Gene ID

1345

5130

Gene namecytochrome c oxidase subunit 6Cphosphate cytidylyltransferase 1, choline, alpha
Synonyms-CCTA|CT|CTA|CTPCT|PCYT1|SMDCRD
Cytomap

8q22.2

3q29

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase subunit 6Ccytochrome c oxidase polypeptide VIccytochrome c oxidase subunit VIc preproteincholine-phosphate cytidylyltransferase ACCT ACCT-alphaCT ACTP:phosphocholine cytidylyltransferase Aphosphorylcholine transferase A
Modification date2018052220180523
UniProtAcc

P09669

P49585

Ensembl transtripts involved in fusion geneENST00000520468, ENST00000297564, 
ENST00000520271, ENST00000517682, 
ENST00000524245, ENST00000522940, 
ENST00000518171, ENST00000523016, 
ENST00000419333, ENST00000292823, 
ENST00000431016, ENST00000491544, 
Fusion gene scores* DoF score9 X 8 X 3=2166 X 6 X 5=180
# samples 116
** MAII scorelog2(11/216*10)=-0.973527788638809
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COX6C [Title/Abstract] AND PCYT1A [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
ChiTaRS3.1BU674566COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
* 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-intronENST00000520468ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000520468ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000520468ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000520468ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000297564ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000297564ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000297564ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000297564ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000520271ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000520271ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000520271ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000520271ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000517682ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000517682ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000517682ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000517682ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000524245ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000524245ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000524245ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000524245ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000522940ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000522940ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000522940ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000522940ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000518171ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000518171ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000518171ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000518171ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000523016ENST00000419333COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-3UTRENST00000523016ENST00000292823COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000523016ENST00000431016COX6Cchr8

100899767

+PCYT1Achr3

195961347

-
intron-intronENST00000523016ENST00000491544COX6Cchr8

100899767

+PCYT1Achr3

195961347

-

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FusionProtFeatures for COX6C_PCYT1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COX6C

P09669

PCYT1A

P49585

This protein is one of the nuclear-coded polypeptidechains of cytochrome c oxidase, the terminal oxidase inmitochondrial electron transport. Controls phosphatidylcholine synthesis.

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 COX6C_PCYT1A


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 COX6C_PCYT1A


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 COX6C_PCYT1A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOX6CP09669DB02659Cholic AcidCytochrome c oxidase subunit 6Csmall moleculeapproved
TgenePCYT1AP49585DB00122CholineCholine-phosphate cytidylyltransferase Asmall moleculeapproved|nutraceutical

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RelatedDiseases for COX6C_PCYT1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePCYT1AC1837073Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy2ORPHANET;UNIPROT
TgenePCYT1AC0080178Spina Bifida1CTD_human
TgenePCYT1AC4277682Chemical and Drug Induced Liver Injury1CTD_human