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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SKP1-RUNX1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SKP1-RUNX1
FusionPDB ID: 82160
FusionGDB2.0 ID: 82160
HgeneTgene
Gene symbol

SKP1

RUNX1

Gene ID

6500

861

Gene nameS-phase kinase associated protein 1RUNX family transcription factor 1
SynonymsEMC19|OCP-II|OCP2|SKP1A|TCEB1L|p19AAML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha
Cytomap

5q31.1

21q22.12

Type of geneprotein-codingprotein-coding
DescriptionS-phase kinase-associated protein 1OCP-2RNA polymerase II elongation factor-like protein OCP2SIIIcyclin A/CDK2-associated p19cyclin-A/CDK2-associated protein p19organ of Corti protein 2organ of Corti protein IIp19skp1transcription elongation factrunt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2
Modification date2020032720200322
UniProtAcc.

Q06455

Ensembl transtripts involved in fusion geneENST idsENST00000353411, ENST00000517625, 
ENST00000521216, ENST00000522552, 
ENST00000522855, 
ENST00000358356, 
ENST00000486278, ENST00000494829, 
ENST00000300305, ENST00000325074, 
ENST00000344691, ENST00000399240, 
ENST00000437180, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 11 X 4=48436 X 59 X 13=27612
# samples 1163
** MAII scorelog2(11/484*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(63/27612*10)=-5.45379975055797
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SKP1 [Title/Abstract] AND RUNX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SKP1(133509617)-RUNX1(36171759), # samples:1
Anticipated loss of major functional domain due to fusion event.SKP1-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
SKP1-RUNX1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneSKP1

GO:0016567

protein ubiquitination

15103331

HgeneSKP1

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331|20347421

HgeneSKP1

GO:0035518

histone H2A monoubiquitination

16943429

TgeneRUNX1

GO:0030097

hemopoiesis

21873977

TgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

TgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977


check buttonFusion gene breakpoints across SKP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across RUNX1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AR-A1AR-01ASKP1chr5

133509617

-RUNX1chr21

36171759

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000353411SKP1chr5133509617-ENST00000344691RUNX1chr2136171759-52532811263439274
ENST00000353411SKP1chr5133509617-ENST00000325074RUNX1chr2136171759-52532811263439274
ENST00000353411SKP1chr5133509617-ENST00000437180RUNX1chr2136171759-52532811263439274
ENST00000353411SKP1chr5133509617-ENST00000300305RUNX1chr2136171759-52532811263439274
ENST00000353411SKP1chr5133509617-ENST00000399240RUNX1chr2136171759-12682811263439274
ENST00000522552SKP1chr5133509617-ENST00000344691RUNX1chr2136171759-51792071189365274
ENST00000522552SKP1chr5133509617-ENST00000325074RUNX1chr2136171759-51792071189365274
ENST00000522552SKP1chr5133509617-ENST00000437180RUNX1chr2136171759-51792071189365274
ENST00000522552SKP1chr5133509617-ENST00000300305RUNX1chr2136171759-51792071189365274
ENST00000522552SKP1chr5133509617-ENST00000399240RUNX1chr2136171759-11942071189365274
ENST00000521216SKP1chr5133509617-ENST00000344691RUNX1chr2136171759-51351631145321274
ENST00000521216SKP1chr5133509617-ENST00000325074RUNX1chr2136171759-51351631145321274
ENST00000521216SKP1chr5133509617-ENST00000437180RUNX1chr2136171759-51351631145321274
ENST00000521216SKP1chr5133509617-ENST00000300305RUNX1chr2136171759-51351631145321274
ENST00000521216SKP1chr5133509617-ENST00000399240RUNX1chr2136171759-11501631145321274
ENST00000517625SKP1chr5133509617-ENST00000344691RUNX1chr2136171759-522825645893282
ENST00000517625SKP1chr5133509617-ENST00000325074RUNX1chr2136171759-522825645893282
ENST00000517625SKP1chr5133509617-ENST00000437180RUNX1chr2136171759-522825645893282
ENST00000517625SKP1chr5133509617-ENST00000300305RUNX1chr2136171759-522825645893282
ENST00000517625SKP1chr5133509617-ENST00000399240RUNX1chr2136171759-124325645893282

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000353411ENST00000344691SKP1chr5133509617-RUNX1chr2136171759-0.002860030.99714005
ENST00000353411ENST00000325074SKP1chr5133509617-RUNX1chr2136171759-0.002860030.99714005
ENST00000353411ENST00000437180SKP1chr5133509617-RUNX1chr2136171759-0.002860030.99714005
ENST00000353411ENST00000300305SKP1chr5133509617-RUNX1chr2136171759-0.002860030.99714005
ENST00000353411ENST00000399240SKP1chr5133509617-RUNX1chr2136171759-0.0090040160.99099606
ENST00000522552ENST00000344691SKP1chr5133509617-RUNX1chr2136171759-0.0029609180.9970391
ENST00000522552ENST00000325074SKP1chr5133509617-RUNX1chr2136171759-0.0029609180.9970391
ENST00000522552ENST00000437180SKP1chr5133509617-RUNX1chr2136171759-0.0029609180.9970391
ENST00000522552ENST00000300305SKP1chr5133509617-RUNX1chr2136171759-0.0029609180.9970391
ENST00000522552ENST00000399240SKP1chr5133509617-RUNX1chr2136171759-0.0110864020.9889136
ENST00000521216ENST00000344691SKP1chr5133509617-RUNX1chr2136171759-0.0029301390.99706984
ENST00000521216ENST00000325074SKP1chr5133509617-RUNX1chr2136171759-0.0029301390.99706984
ENST00000521216ENST00000437180SKP1chr5133509617-RUNX1chr2136171759-0.0029301390.99706984
ENST00000521216ENST00000300305SKP1chr5133509617-RUNX1chr2136171759-0.0029301390.99706984
ENST00000521216ENST00000399240SKP1chr5133509617-RUNX1chr2136171759-0.0102354350.9897646
ENST00000517625ENST00000344691SKP1chr5133509617-RUNX1chr2136171759-0.002531210.9974688
ENST00000517625ENST00000325074SKP1chr5133509617-RUNX1chr2136171759-0.002531210.9974688
ENST00000517625ENST00000437180SKP1chr5133509617-RUNX1chr2136171759-0.002531210.9974688
ENST00000517625ENST00000300305SKP1chr5133509617-RUNX1chr2136171759-0.002531210.9974688
ENST00000517625ENST00000399240SKP1chr5133509617-RUNX1chr2136171759-0.0144681810.9855318

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>82160_82160_1_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000353411_RUNX1_chr21_36171759_ENST00000300305_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_2_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000353411_RUNX1_chr21_36171759_ENST00000325074_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_3_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000353411_RUNX1_chr21_36171759_ENST00000344691_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_4_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000353411_RUNX1_chr21_36171759_ENST00000399240_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_5_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000353411_RUNX1_chr21_36171759_ENST00000437180_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_6_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000517625_RUNX1_chr21_36171759_ENST00000300305_length(amino acids)=282AA_BP=70
MPRPRLSEASSGRASSRRSININEHILMYSLDLNSSSQMPSIKLQSSDGEIFEVDVEIAKQSVTIKTMLEDTRQIQPSPPWSYDQSYQYL
GSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYH
TYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAP

--------------------------------------------------------------

>82160_82160_7_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000517625_RUNX1_chr21_36171759_ENST00000325074_length(amino acids)=282AA_BP=70
MPRPRLSEASSGRASSRRSININEHILMYSLDLNSSSQMPSIKLQSSDGEIFEVDVEIAKQSVTIKTMLEDTRQIQPSPPWSYDQSYQYL
GSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYH
TYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAP

--------------------------------------------------------------

>82160_82160_8_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000517625_RUNX1_chr21_36171759_ENST00000344691_length(amino acids)=282AA_BP=70
MPRPRLSEASSGRASSRRSININEHILMYSLDLNSSSQMPSIKLQSSDGEIFEVDVEIAKQSVTIKTMLEDTRQIQPSPPWSYDQSYQYL
GSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYH
TYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAP

--------------------------------------------------------------

>82160_82160_9_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000517625_RUNX1_chr21_36171759_ENST00000399240_length(amino acids)=282AA_BP=70
MPRPRLSEASSGRASSRRSININEHILMYSLDLNSSSQMPSIKLQSSDGEIFEVDVEIAKQSVTIKTMLEDTRQIQPSPPWSYDQSYQYL
GSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYH
TYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAP

--------------------------------------------------------------

>82160_82160_10_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000517625_RUNX1_chr21_36171759_ENST00000437180_length(amino acids)=282AA_BP=70
MPRPRLSEASSGRASSRRSININEHILMYSLDLNSSSQMPSIKLQSSDGEIFEVDVEIAKQSVTIKTMLEDTRQIQPSPPWSYDQSYQYL
GSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYH
TYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAP

--------------------------------------------------------------

>82160_82160_11_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000521216_RUNX1_chr21_36171759_ENST00000300305_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_12_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000521216_RUNX1_chr21_36171759_ENST00000325074_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_13_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000521216_RUNX1_chr21_36171759_ENST00000344691_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_14_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000521216_RUNX1_chr21_36171759_ENST00000399240_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_15_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000521216_RUNX1_chr21_36171759_ENST00000437180_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_16_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000522552_RUNX1_chr21_36171759_ENST00000300305_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_17_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000522552_RUNX1_chr21_36171759_ENST00000325074_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_18_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000522552_RUNX1_chr21_36171759_ENST00000344691_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_19_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000522552_RUNX1_chr21_36171759_ENST00000399240_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

--------------------------------------------------------------

>82160_82160_20_SKP1-RUNX1_SKP1_chr5_133509617_ENST00000522552_RUNX1_chr21_36171759_ENST00000437180_length(amino acids)=274AA_BP=
MLNQKHSQFPSGNLPVCFPARPLGAGAGGHPRGASPRTPPRGPGRQQTAAAWASGRRRLRGPDLQRDPGRRAPSAPGRWPGPGPGIPAGL
SRTGGPRARRRRRRPAGPSRARPGASVGPPHGLLQARGGRHVGGGVAVAALGLHHVALVREAGVEQRGAGGGVGAGRQDARRRALAAHHG
ELVGAGRGAVVQVVGGRAGLERASLRLRRAGVGRRQVGVVARGRAHGRHADADARGDRRRGVGEGAWIVHAGVGDGGQRGELARVAERCQ

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:133509617/chr21:36171759)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.RUNX1

Q06455

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199, PubMed:10688654). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). {ECO:0000250|UniProtKB:Q61909, ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:10973986, ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23812588, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneRUNX1chr5:133509617chr21:36171759ENST0000035835605187_4530251.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneRUNX1chr5:133509617chr21:36171759ENST000003583560550_1780251.0DomainRunt

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneRUNX1chr5:133509617chr21:36171759ENST0000030030558187_453268.3333333333333481.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneRUNX1chr5:133509617chr21:36171759ENST0000032507447187_453256.3333333333333469.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneRUNX1chr5:133509617chr21:36171759ENST0000034469136187_453241.33333333333334454.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneRUNX1chr5:133509617chr21:36171759ENST0000043718069187_453268.3333333333333481.0Compositional biasNote=Pro/Ser/Thr-rich
TgeneRUNX1chr5:133509617chr21:36171759ENST000003003055850_178268.3333333333333481.0DomainRunt
TgeneRUNX1chr5:133509617chr21:36171759ENST000003250744750_178256.3333333333333469.0DomainRunt
TgeneRUNX1chr5:133509617chr21:36171759ENST000003446913650_178241.33333333333334454.0DomainRunt
TgeneRUNX1chr5:133509617chr21:36171759ENST000004371806950_178268.3333333333333481.0DomainRunt


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
RUNX1SUV39H1, KAT6B, CBFB, AES, PAX5, YAP1, JUN, FOS, SMAD3, SMAD1, SMAD2, SMAD5, VDR, ELF4, ELF2, CEBPB, TLE1, CBFA2T2, TRAF6, FHL2, MYOD1, HIPK2, EP300, HDAC1, HDAC3, KAT6A, tat, TCF12, TCF3, RUNX1T1, NCOR1, SIAH1, UBE2L6, RUNX1, PML, RARA, HDAC2, SIN3A, NR4A2, TRIM33, STUB1, Vdr, SMARCA4, SMARCB1, SMARCC1, CDK1, TAL1, COPRS, KMT2A, RBM14, SPEN, DNMT1, ELAVL1, CBFA2T3, PRMT1, HLA-DMA, CREBBP, UXT, CTBP2, NOTCH1, MYC, NCOR2, FOXP3, SOX2, CTBP1, HDAC11, RAG1, SPI1, ELF1, Cep72, CDK6, vif, KLF6, NFATC1, NFATC2, ZNF131, BRCA1, CDK9, FANCD2, Cbfb, CTNNB1, WWP1, RNF38, RNF44, DTX2, TRIM5, UHRF2, DZIP3, NEDD4, NKX2-1, HIF1A, ACTB, ARID1A, ARID3A, ASH2L, ACTL6A, BRD9, C2orf44, CCNK, CDC16, CDKN2AIP, CLTC, NELFB, CPSF3, CPSF6, CSTF2, CSTF2T, CTPS1, DDX1, DDX17, DDX21, DDX3X, DDX41, DDX5, DHX15, DHX36, DHX9, DPF2, EEF1A1, EEF1A2, EWSR1, EZR, FAF1, FERMT3, FIP1L1, FUBP1, FUS, GATAD2A, GATAD2B, GMPS, HIC2, HNRNPH1, HNRNPM, HNRNPR, HNRNPU, HSPA1A, HSPA2, HSPA5, HSPA8, HSPA9, IGF2BP1, INTS10, INTS9, KHSRP, KIF2B, LARP7, LCP1, LMNA, LMNB1, LRRC40, LRWD1, MED1, MED12, MED16, MED17, MED26, MEN1, MLLT1, MTA2, NDC80, NOP56, NONO, NUP85, ORC2, PABPC1, PABPC4, PAXIP1, PRMT5, PSIP1, PSPC1, RAD18, RANGAP1, RARS, RBBP5, RBM39, RPA1, RPAP2, SF1, SF3B2, SF3B3, SFPQ, SMARCC2, SMARCD1, SNRNP70, SNRPD1, SNX9, U2SURP, SRP68, SYNCRIP, TAF15, TFRC, TKT, TRAP1, TRIM25, TUBA1B, TUBB2A, UBP1, USP39, WDR76, XRCC6, XRN2, ZNF326, DMBT1, DNAJA3, DNAJB11, DPYSL2, DYNLL1, EIF3A, EIF3G, EIF4A2, EMG1, DCPS, IKZF3, IKZF1, MAD2L2, KIAA1429, Hipk2, HIST1H4A, ORF3b, MAPK1, TEAD2, SNRPC, BAG3, TEKT5, BAG4, NFKBID, VPS37C, FAM222B, OLIG3, GCC1, HGS, TEAD4, FBXO17, CIC, GSK3A, ATG7, FBXW12, RUNX2, FOXF2, NAAA, GPR55, BTF3,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SKP1
RUNX1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneSKP1chr5:133509617chr21:36171759ENST00000353411-26104_16332.333333333333336164.0the F-box domain of F-box proteins
HgeneSKP1chr5:133509617chr21:36171759ENST00000517625-37104_16332.333333333333336164.0the F-box domain of F-box proteins
HgeneSKP1chr5:133509617chr21:36171759ENST00000522552-25104_16332.333333333333336161.0the F-box domain of F-box proteins
HgeneSKP1chr5:133509617chr21:36171759ENST00000522855-37104_16332.333333333333336164.0the F-box domain of F-box proteins
TgeneRUNX1chr5:133509617chr21:36171759ENST0000030030558135_143268.3333333333333481.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000030030558168_177268.3333333333333481.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST000003003055880_84268.3333333333333481.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000032507447135_143256.3333333333333469.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000032507447168_177256.3333333333333469.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST000003250744780_84256.3333333333333469.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000034469136135_143241.33333333333334454.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000034469136168_177241.33333333333334454.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST000003446913680_84241.33333333333334454.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000043718069135_143268.3333333333333481.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST0000043718069168_177268.3333333333333481.0DNA
TgeneRUNX1chr5:133509617chr21:36171759ENST000004371806980_84268.3333333333333481.0DNA


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Related Drugs to SKP1-RUNX1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to SKP1-RUNX1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRUNX1C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy11CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRUNX1C0023467Leukemia, Myelocytic, Acute4CGI;CTD_human;GENOMICS_ENGLAND
TgeneRUNX1C0026998Acute Myeloid Leukemia, M13CTD_human
TgeneRUNX1C1879321Acute Myeloid Leukemia (AML-M2)3CTD_human
TgeneRUNX1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
TgeneRUNX1C0003873Rheumatoid Arthritis1CTD_human
TgeneRUNX1C0006413Burkitt Lymphoma1ORPHANET
TgeneRUNX1C0017636Glioblastoma1CTD_human
TgeneRUNX1C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneRUNX1C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneRUNX1C0023473Myeloid Leukemia, Chronic1ORPHANET
TgeneRUNX1C0033578Prostatic Neoplasms1CTD_human
TgeneRUNX1C0040034Thrombocytopenia1GENOMICS_ENGLAND
TgeneRUNX1C0334588Giant Cell Glioblastoma1CTD_human
TgeneRUNX1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneRUNX1C0376358Malignant neoplasm of prostate1CTD_human
TgeneRUNX1C1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
TgeneRUNX1C1621958Glioblastoma Multiforme1CTD_human
TgeneRUNX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneRUNX1C2713368Hematopoetic Myelodysplasia1CTD_human
TgeneRUNX1C3463824MYELODYSPLASTIC SYNDROME1CTD_human