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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: 35475

FusionGeneSummary for SP100_PAX7

check button Fusion gene summary
Fusion gene informationFusion gene name: SP100_PAX7
Fusion gene ID: 35475
HgeneTgene
Gene symbol

SP100

PAX7

Gene ID

6672

5081

Gene nameSP100 nuclear antigenpaired box 7
Synonymslysp100bHUP1|PAX7B|RMS2
Cytomap

2q37.1

1p36.13

Type of geneprotein-codingprotein-coding
Descriptionnuclear autoantigen Sp-100SP100-HMG nuclear autoantigennuclear dot-associated Sp100 proteinspeckled 100 kDapaired box protein Pax-7PAX7 transcriptional factorpaired box homeotic gene 7paired domain gene 7
Modification date2018052220180527
UniProtAcc

P23497

P23759

Ensembl transtripts involved in fusion geneENST00000264052, ENST00000409112, 
ENST00000340126, ENST00000427101, 
ENST00000409824, ENST00000409341, 
ENST00000341950, ENST00000409897, 
ENST00000375375, ENST00000420770, 
ENST00000400661, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 4 X 3=48
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SP100 [Title/Abstract] AND PAX7 [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
HgeneSP100

GO:0000122

negative regulation of transcription by RNA polymerase II

15247905

HgeneSP100

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

14647468

HgeneSP100

GO:0034340

response to type I interferon

9230084|15247905

HgeneSP100

GO:0034341

response to interferon-gamma

9230084

HgeneSP100

GO:0043392

negative regulation of DNA binding

15247905

HgeneSP100

GO:0043433

negative regulation of DNA binding transcription factor activity

15247905

HgeneSP100

GO:0045185

maintenance of protein location

12470659


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
ChiTaRS3.1AA528778SP100chr2

231322685

-PAX7chr1

19050230

+
* 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
intron-intronENST00000264052ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000264052ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000264052ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409112ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409112ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409112ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000340126ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000340126ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000340126ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000427101ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000427101ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000427101ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409824ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409824ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409824ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409341ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409341ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409341ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000341950ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000341950ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000341950ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409897ENST00000375375SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409897ENST00000420770SP100chr2

231322685

-PAX7chr1

19050230

+
intron-intronENST00000409897ENST00000400661SP100chr2

231322685

-PAX7chr1

19050230

+

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FusionProtFeatures for SP100_PAX7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SP100

P23497

PAX7

P23759

Transcription factor playing a role in myogenesisthrough regulation of muscle precursor cells proliferation.{ECO:0000250|UniProtKB:P47239}.

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 SP100_PAX7


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 SP100_PAX7


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


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 SP100_PAX7


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 SP100_PAX7


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