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Fusion gene ID: 12190 |
FusionGeneSummary for ETV6_PRH2 |
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Fusion gene information | Fusion gene name: ETV6_PRH2 | Fusion gene ID: 12190 | Hgene | Tgene | Gene symbol | ETV6 | PRH2 | Gene ID | 2120 | 5555 |
Gene name | ETS variant 6 | proline rich protein HaeIII subfamily 2 | |
Synonyms | TEL|TEL/ABL|THC5 | PRP-1/PRP-2|Pr|pr1/Pr2 | |
Cytomap | 12p13.2 | 12p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | transcription 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 date | 20180523 | 20180329 | |
UniProtAcc | P41212 | P02810 | |
Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000381847, ENST00000396400, | |
Fusion gene scores | * DoF score | 23 X 26 X 11=6578 | 2 X 1 X 2=4 |
# samples | 47 | 2 | |
** MAII score | log2(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 annotation | Oncogene 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BLCA | TCGA-DK-A2I6-01A | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000396373 | ENST00000381847 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
In-frame | ENST00000396373 | ENST00000396400 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
3UTR-3CDS | ENST00000544715 | ENST00000381847 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
3UTR-3CDS | ENST00000544715 | ENST00000396400 | ETV6 | chr12 | 11905513 | + | PRH2 | chr12 | 11082868 | + |
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FusionProtFeatures for ETV6_PRH2 |
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Hgene | Tgene |
ETV6 | PRH2 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >ETV6 | chr12:11905513 | chr12:11082868 | ENST00000396373 | + | 2 | 8 | 339_420 | 54 | 453 | DNA binding | ETS |
Hgene | >ETV6 | chr12:11905513 | chr12:11082868 | ENST00000396373 | + | 2 | 8 | 40_124 | 54 | 453 | Domain | PNT |
Tgene | PRH2 | chr12:11905513 | chr12:11082868 | ENST00000381847 | + | 0 | 3 | 17_46 | 21 | 167 | Region | Note=Inhibits hydroxyapatite formation%2C binds to hydroxyapatite and calcium |
Tgene | PRH2 | chr12:11905513 | chr12:11082868 | ENST00000396400 | + | 0 | 4 | 17_46 | 21 | 171 | Region | Note=Inhibits hydroxyapatite formation%2C binds to hydroxyapatite and calcium |
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FusionGeneSequence for ETV6_PRH2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000381847_chr12_11082868_+_200aa MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLHVSQEDVPLVISDGGDSEQFIDEERQGPPLGGQQSQ PSAGDGNQNDGPQQGPPQQGGQQQQGPPPPQGKPQGPPQQGGHPPPPQGRPQGPPQQGGHPRPPRGRPQGPPQQGGHQQGPPPPPPGKPQ >In-frame_ETV6_ENST00000396373_chr12_11905513_+_PRH2_ENST00000396400_chr12_11082868_+_200aa MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLHVSQEDVPLVISDGGDSEQFIDEERQGPPLGGQQSQ 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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ETV6 | KAT5, 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, NFATC2 | PRH2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ETV6_PRH2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ETV6_PRH2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ETV6 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 3 | CTD_human |
Hgene | ETV6 | C0040034 | Thrombocytopenia | 2 | CTD_human;HPO |
Hgene | ETV6 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Hgene | ETV6 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
Hgene | ETV6 | C1838656 | Macrocytosis, Familial | 1 | CTD_human |
Hgene | ETV6 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | ETV6 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Hgene | ETV6 | C4015537 | THROMBOCYTOPENIA 5 | 1 | UNIPROT |