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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: 12176

FusionGeneSummary for ETV6_CIDEA

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_CIDEA
Fusion gene ID: 12176
HgeneTgene
Gene symbol

ETV6

CIDEA

Gene ID

2120

1149

Gene nameETS variant 6cell death-inducing DFFA-like effector a
SynonymsTEL|TEL/ABL|THC5CIDE-A
Cytomap

12p13.2

18p11.21|18

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)cell death activator CIDE-A
Modification date2018052320180523
UniProtAcc

P41212

O60543

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000320477, ENST00000521296, 
Fusion gene scores* DoF score23 X 26 X 11=65782 X 2 X 2=8
# samples 472
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ETV6 [Title/Abstract] AND CIDEA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502


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
TCGARVMESOTCGA-SC-A6LN-01AETV6chr12

11803094

+CIDEAchr18

12274092

+
* 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
In-frameENST00000396373ENST00000320477ETV6chr12

11803094

+CIDEAchr18

12274092

+
5CDS-3UTRENST00000396373ENST00000521296ETV6chr12

11803094

+CIDEAchr18

12274092

+
3UTR-3CDSENST00000544715ENST00000320477ETV6chr12

11803094

+CIDEAchr18

12274092

+
3UTR-3UTRENST00000544715ENST00000521296ETV6chr12

11803094

+CIDEAchr18

12274092

+

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FusionProtFeatures for ETV6_CIDEA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ETV6

P41212

CIDEA

O60543

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. Acts as a CEBPB coactivator in mammary epithelial cellsto control the expression of a subset of CEBPB downstream targetgenes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but notcasein. By interacting with CEBPB, strengthens the association ofCEBPB with the XDH promoter, increases histone acetylation anddissociates HDAC1 from the promoter (By similarity). Binds tolipid droplets and regulates their enlargement, therebyrestricting lipolysis and favoring storage. At focal contact sitesbetween lipid droplets, promotes directional net neutral lipidtransfer from the smaller to larger lipid droplets. The transferdirection may be driven by the internal pressure differencebetween the contacting lipid droplet pair and occurs at a lowerrate than that promoted by CIDEC. When overexpressed, inducesapoptosis. The physiological significance of its role in apoptosisis unclear. {ECO:0000250, ECO:0000269|PubMed:19843876}.

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
HgeneETV6chr12:11803094chr18:12274092ENST00000396373+18339_42011453DNA bindingETS
HgeneETV6chr12:11803094chr18:12274092ENST00000396373+1840_12411453DomainPNT
TgeneCIDEAchr12:11803094chr18:12274092ENST00000320477+2533_110110220DomainCIDE-N


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FusionGeneSequence for ETV6_CIDEA


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.
>In-frame_ETV6_ENST00000396373_chr12_11803094_+_CIDEA_ENST00000320477_chr18_12274092_+_121aa
MSETPAQCSIKGSQHVPTCSPPKRSGIARVTFDLYRLNPKDFIGCLNVKATMTEMYSVSYDIRCTGLKGLLRSLLRFLSYSAQVTGQFLI


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ETV6_ENST00000396373_chr12_11803094_+_CIDEA_ENST00000320477_chr18_12274092_+_363nt
ATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGGCAGCCAGCACGTCCCCACTTGCTCGCCGCCGAAGAGGTCGGGAATAGCGAGAGTC
ACCTTCGACTTGTACAGGCTGAACCCCAAGGACTTCATCGGCTGCCTTAACGTGAAGGCCACCATGTATGAGATGTACTCCGTGTCCTAC
GACATCCGGTGCACGGGACTCAAGGGCCTGCTGAGGAGTCTGCTGCGGTTCCTGTCCTACTCCGCCCAGGTGACGGGACAGTTTCTCATC
TATCTGGGCACATACATGCTCCGGGTGCTGGATGACAAGGAAGAGCGGCCATCCCTCCGGTCACAAGCCAAGGGCAGGTTCACGTGTGGA


* Fusion transcript sequences (Full-length transcript).
>In-frame_ETV6_ENST00000396373_chr12_11803094_+_CIDEA_ENST00000320477_chr18_12274092_+_740nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGGGCAGCCAGCACGTCCCCACTTGCTCGCCGCCGAAGAGGTCGGGAATAGCGAG
AGTCACCTTCGACTTGTACAGGCTGAACCCCAAGGACTTCATCGGCTGCCTTAACGTGAAGGCCACCATGTATGAGATGTACTCCGTGTC
CTACGACATCCGGTGCACGGGACTCAAGGGCCTGCTGAGGAGTCTGCTGCGGTTCCTGTCCTACTCCGCCCAGGTGACGGGACAGTTTCT
CATCTATCTGGGCACATACATGCTCCGGGTGCTGGATGACAAGGAAGAGCGGCCATCCCTCCGGTCACAAGCCAAGGGCAGGTTCACGTG
TGGATAGGGATGCAGGCTGTCGCCGGCTCTTGAGCCAAACACTGTGTTTCGTTTGGCTCAATGACGAATGTTGAAGATGCTTTTATGTTC


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FusionGenePPI for ETV6_CIDEA


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
ETV6KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2CIDEAZBTB16, CIDEB, PRKAB1, IGHG2, PKP1, S100A14, SERPINA12, PKP3, CIDEC, ICAM1, KPRP


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 ETV6_CIDEA


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 ETV6_CIDEA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia2CTD_human;HPO
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C4015537THROMBOCYTOPENIA 51UNIPROT
TgeneCIDEAC0018801Heart failure1CTD_human
TgeneCIDEAC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCIDEAC0023903Liver neoplasms1CTD_human
TgeneCIDEAC0028754Obesity1CTD_human