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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: 5053

FusionGeneSummary for C6orf222_ETV7

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf222_ETV7
Fusion gene ID: 5053
HgeneTgene
Gene symbol

C6orf222

ETV7

Gene ID

389384

51513

Gene namechromosome 6 open reading frame 222ETS variant 7
Synonyms-TEL-2|TEL2|TELB
Cytomap

6p21.31

6p21.31

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C6orf222transcription factor ETV7ETS translocation variant 7ETS-related protein Tel2Ets transcription factor TEL-2bTEL2 oncogeneets variant gene 7 (TEL2 oncogene)tel-related Ets factor
Modification date2018032920180523
UniProtAcc

P0C671

Q9Y603

Ensembl transtripts involved in fusion geneENST00000437635, ENST00000339796, 
ENST00000373737, ENST00000340181, 
ENST00000373738, ENST00000538992, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 3 X 4=48
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C6orf222 [Title/Abstract] AND ETV7 [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
TgeneETV7

GO:0000122

negative regulation of transcription by RNA polymerase II

11108721


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
TCGARVCOADTCGA-D5-6530-01AC6orf222chr6

36293060

-ETV7chr6

36322464

-
* 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-shiftENST00000437635ENST00000339796C6orf222chr6

36293060

-ETV7chr6

36322464

-
5CDS-intronENST00000437635ENST00000373737C6orf222chr6

36293060

-ETV7chr6

36322464

-
5CDS-intronENST00000437635ENST00000340181C6orf222chr6

36293060

-ETV7chr6

36322464

-
5CDS-intronENST00000437635ENST00000373738C6orf222chr6

36293060

-ETV7chr6

36322464

-
5CDS-intronENST00000437635ENST00000538992C6orf222chr6

36293060

-ETV7chr6

36322464

-

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FusionProtFeatures for C6orf222_ETV7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C6orf222

P0C671

ETV7

Q9Y603


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 C6orf222_ETV7


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 C6orf222_ETV7


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
C6orf222ETV7L3MBTL1, IRF4, LRPAP1, VTN, ETV6, PDLIM7, WT1


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 C6orf222_ETV7


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 C6orf222_ETV7


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