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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: 8177

FusionGeneSummary for COX6C_AFF4

check button Fusion gene summary
Fusion gene informationFusion gene name: COX6C_AFF4
Fusion gene ID: 8177
HgeneTgene
Gene symbol

COX6C

AFF4

Gene ID

1345

27125

Gene namecytochrome c oxidase subunit 6CAF4/FMR2 family member 4
Synonyms-AF5Q31|CHOPS|MCEF
Cytomap

8q22.2

5q31.1

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase subunit 6Ccytochrome c oxidase polypeptide VIccytochrome c oxidase subunit VIc preproteinAF4/FMR2 family member 4ALL1-fused gene from chromosome 5q31 proteinmajor CDK9 elongation factor-associated protein
Modification date2018052220180523
UniProtAcc

P09669

Q9UHB7

Ensembl transtripts involved in fusion geneENST00000520468, ENST00000297564, 
ENST00000520271, ENST00000517682, 
ENST00000524245, ENST00000522940, 
ENST00000518171, ENST00000523016, 
ENST00000265343, ENST00000378595, 
ENST00000491831, 
Fusion gene scores* DoF score9 X 8 X 3=2163 X 3 X 2=18
# samples 113
** MAII scorelog2(11/216*10)=-0.973527788638809
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: COX6C [Title/Abstract] AND AFF4 [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
ChiTaRS3.1AI335947COX6Cchr8

100899800

+AFF4chr5

132270576

+
* 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-3CDSENST00000520468ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000520468ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000520468ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000297564ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000297564ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000297564ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000520271ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000520271ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000520271ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000517682ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000517682ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000517682ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000524245ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000524245ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000524245ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000522940ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000522940ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000522940ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000518171ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000518171ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000518171ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000523016ENST00000265343COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-3CDSENST00000523016ENST00000378595COX6Cchr8

100899800

+AFF4chr5

132270576

+
intron-5UTRENST00000523016ENST00000491831COX6Cchr8

100899800

+AFF4chr5

132270576

+

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FusionProtFeatures for COX6C_AFF4


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

P09669

AFF4

Q9UHB7

This protein is one of the nuclear-coded polypeptidechains of cytochrome c oxidase, the terminal oxidase inmitochondrial electron transport. Key component of the super elongation complex (SEC), acomplex required to increase the catalytic rate of RNA polymeraseII transcription by suppressing transient pausing by thepolymerase at multiple sites along the DNA. In the SEC complex,AFF4 acts as a central scaffold that recruits other factorsthrough direct interactions with ELL proteins (ELL, ELL2 or ELL3)and the P-TEFb complex. In case of infection by HIV-1 virus, theSEC complex is recruited by the viral Tat protein to stimulateviral gene expression. {ECO:0000269|PubMed:20159561,ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}.

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_AFF4


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_AFF4


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_AFF4


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

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RelatedDiseases for COX6C_AFF4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAFF4C0005941Bone Diseases, Developmental1CTD_human
TgeneAFF4C0009241Cognition Disorders1CTD_human
TgeneAFF4C0018273Growth Disorders1CTD_human
TgeneAFF4C0018798Congenital Heart Defects1CTD_human
TgeneAFF4C0024115Lung diseases1CTD_human
TgeneAFF4C0028754Obesity1CTD_human;HPO
TgeneAFF4C0282631Facies1CTD_human
TgeneAFF4C4085597CHOPS SYNDROME1ORPHANET;UNIPROT