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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: 12190

FusionGeneSummary for ETV6_PRH2

check button Fusion gene summary
Fusion gene informationFusion gene name: ETV6_PRH2
Fusion gene ID: 12190
HgeneTgene
Gene symbol

ETV6

PRH2

Gene ID

2120

5555

Gene nameETS variant 6proline rich protein HaeIII subfamily 2
SynonymsTEL|TEL/ABL|THC5PRP-1/PRP-2|Pr|pr1/Pr2
Cytomap

12p13.2

12p13.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)salivary acidic proline-rich phosphoprotein 1/2acidic salivary proline-rich protein, HaeIII type, 2parotid acidic proteinparotid double-band proteinparotid proline-rich protein 1/2protein C
Modification date2018052320180329
UniProtAcc

P41212

P02810

Ensembl transtripts involved in fusion geneENST00000396373, ENST00000544715, 
ENST00000381847, ENST00000396400, 
Fusion gene scores* DoF score23 X 26 X 11=65782 X 1 X 2=4
# samples 472
** MAII scorelog2(47/6578*10)=-3.8069163462704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ETV6 [Title/Abstract] AND PRH2 [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
TCGALDBLCATCGA-DK-A2I6-01AETV6chr12

11905513

+PRH2chr12

11082868

+
* 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-frameENST00000396373ENST00000381847ETV6chr12

11905513

+PRH2chr12

11082868

+
In-frameENST00000396373ENST00000396400ETV6chr12

11905513

+PRH2chr12

11082868

+
3UTR-3CDSENST00000544715ENST00000381847ETV6chr12

11905513

+PRH2chr12

11082868

+
3UTR-3CDSENST00000544715ENST00000396400ETV6chr12

11905513

+PRH2chr12

11082868

+

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FusionProtFeatures for ETV6_PRH2


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

P41212

PRH2

P02810

Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. PRP's act as highly potent inhibitors of crystal growthof calcium phosphates. They provide a protective and reparativeenvironment for dental enamel which is important for the integrityof the teeth.

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
HgeneETV6chr12:11905513chr12:11082868ENST00000396373+28339_42054453DNA bindingETS
HgeneETV6chr12:11905513chr12:11082868ENST00000396373+2840_12454453DomainPNT
TgenePRH2chr12:11905513chr12:11082868ENST00000381847+0317_4621167RegionNote=Inhibits hydroxyapatite formation%2C binds to hydroxyapatite and calcium
TgenePRH2chr12:11905513chr12:11082868ENST00000396400+0417_4621171RegionNote=Inhibits hydroxyapatite formation%2C binds to hydroxyapatite and calcium


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FusionGeneSequence for ETV6_PRH2


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_11905513_+_PRH2_ENST00000381847_chr12_11082868_+_200aa
MSETPAQCSIKQERISTTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLHVSQEDVPLVISDGGDSEQFIDEERQGPPLGGQQSQ
PSAGDGNQNDGPQQGPPQQGGQQQQGPPPPQGKPQGPPQQGGHPPPPQGRPQGPPQQGGHPRPPRGRPQGPPQQGGHQQGPPPPPPGKPQ

>In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000396400_chr12_11082868_+_200aa
MSETPAQCSIKQERISTTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLHVSQEDVPLVISDGGDSEQFIDEERQGPPLGGQQSQ
PSAGDGNQNDGPQQGPPQQGGQQQQGPPPPQGKPQGPPQQGGHPPPPQGRPQGPPQQGGHPRPPRGRPQGPPQQGGHQQGPPPPPPGKPQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000381847_chr12_11082868_+_600nt
ATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTCCTCG
ACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCATGTCAGCCAAGAAGAC
GTTCCCTTGGTAATATCAGATGGAGGAGACTCTGAGCAGTTCATAGATGAGGAGCGTCAGGGACCACCTTTGGGAGGACAGCAATCTCAA
CCCTCTGCTGGTGATGGGAACCAGAATGATGGCCCTCAGCAGGGACCACCCCAACAAGGAGGCCAGCAGCAACAAGGTCCACCACCTCCT
CAGGGAAAGCCACAAGGACCACCCCAACAGGGAGGCCATCCCCCTCCTCCTCAAGGAAGGCCACAAGGACCACCCCAACAGGGAGGCCAT
CCCCGTCCTCCTCGAGGAAGGCCACAAGGACCACCCCAACAGGGAGGCCATCAGCAAGGTCCTCCCCCACCTCCTCCTGGAAAGCCCCAG

>In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000396400_chr12_11082868_+_600nt
ATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTCCTCG
ACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCATGTCAGCCAAGAAGAC
GTTCCCTTGGTAATATCAGATGGAGGAGACTCTGAGCAGTTCATAGATGAGGAGCGTCAGGGACCACCTTTGGGAGGACAGCAATCTCAA
CCCTCTGCTGGTGATGGGAACCAGAATGATGGCCCTCAGCAGGGACCACCCCAACAAGGAGGCCAGCAGCAACAAGGTCCACCACCTCCT
CAGGGAAAGCCACAAGGACCACCCCAACAGGGAGGCCATCCCCCTCCTCCTCAAGGAAGGCCACAAGGACCACCCCAACAGGGAGGCCAT
CCCCGTCCTCCTCGAGGAAGGCCACAAGGACCACCCCAACAGGGAGGCCATCAGCAAGGTCCTCCCCCACCTCCTCCTGGAAAGCCCCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000381847_chr12_11082868_+_976nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTC
CTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCATGTCAGCCAAGA
AGACGTTCCCTTGGTAATATCAGATGGAGGAGACTCTGAGCAGTTCATAGATGAGGAGCGTCAGGGACCACCTTTGGGAGGACAGCAATC
TCAACCCTCTGCTGGTGATGGGAACCAGAATGATGGCCCTCAGCAGGGACCACCCCAACAAGGAGGCCAGCAGCAACAAGGTCCACCACC
TCCTCAGGGAAAGCCACAAGGACCACCCCAACAGGGAGGCCATCCCCCTCCTCCTCAAGGAAGGCCACAAGGACCACCCCAACAGGGAGG
CCATCCCCGTCCTCCTCGAGGAAGGCCACAAGGACCACCCCAACAGGGAGGCCATCAGCAAGGTCCTCCCCCACCTCCTCCTGGAAAGCC
CCAGGGACCACCTCCCCAAGGGGGCCGCCCACAAGGACCTCCACAGGGGCAGTCTCCTCAGTAATCTAGGATTCAATGATAGGTATGATT

>In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000396400_chr12_11082868_+_1008nt
GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC
AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC
CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG
AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTC
CTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCATGTCAGCCAAGA
AGACGTTCCCTTGGTAATATCAGATGGAGGAGACTCTGAGCAGTTCATAGATGAGGAGCGTCAGGGACCACCTTTGGGAGGACAGCAATC
TCAACCCTCTGCTGGTGATGGGAACCAGAATGATGGCCCTCAGCAGGGACCACCCCAACAAGGAGGCCAGCAGCAACAAGGTCCACCACC
TCCTCAGGGAAAGCCACAAGGACCACCCCAACAGGGAGGCCATCCCCCTCCTCCTCAAGGAAGGCCACAAGGACCACCCCAACAGGGAGG
CCATCCCCGTCCTCCTCGAGGAAGGCCACAAGGACCACCCCAACAGGGAGGCCATCAGCAAGGTCCTCCCCCACCTCCTCCTGGAAAGCC
CCAGGGACCACCTCCCCAAGGGGGCCGCCCACAAGGACCTCCACAGGGGCAGTCTCCTCAGTAATCTAGGATTCAATGATAGGAAGTGAA
TAAGAAGATGACAGTGTTTCAAATGCCTTGAAACATAATGTGATCATGCTCTAACTTCAATATACCAATAAAATAATCAGCTTGCAATTT


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FusionGenePPI for ETV6_PRH2


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, NFATC2PRH2


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_PRH2


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_PRH2


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