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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: 41001

FusionGeneSummary for USP1_SGIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: USP1_SGIP1
Fusion gene ID: 41001
HgeneTgene
Gene symbol

USP1

SGIP1

Gene ID

7398

84251

Gene nameubiquitin specific peptidase 1SH3 domain GRB2 like endophilin interacting protein 1
SynonymsUBP-
Cytomap

1p31.3

1p31.3

Type of geneprotein-codingprotein-coding
Descriptionubiquitin carboxyl-terminal hydrolase 1deubiquitinating enzyme 1hUBPubiquitin specific processing protease 1ubiquitin specific protease 1ubiquitin thioesterase 1ubiquitin thiolesterase 1SH3-containing GRB2-like protein 3-interacting protein 1endophilin-3-interacting protein
Modification date2018052220180523
UniProtAcc

O94782

Q9BQI5

Ensembl transtripts involved in fusion geneENST00000371146, ENST00000339950, 
ENST00000237247, ENST00000371039, 
ENST00000371035, ENST00000468286, 
ENST00000371036, ENST00000371037, 
ENST00000435165, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 5 X 3=75
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: USP1 [Title/Abstract] AND SGIP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneUSP1

GO:0006282

regulation of DNA repair

18082604

HgeneUSP1

GO:0009411

response to UV

18082604

HgeneUSP1

GO:0016579

protein deubiquitination

18082604


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
TCGALDBRCATCGA-AR-A24S-01AUSP1chr1

62914337

+SGIP1chr1

67091530

+
* 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
Frame-shitENST00000371146ENST00000237247USP1chr1

62914337

+SGIP1chr1

67091530

+
Frame-shitENST00000371146ENST00000371039USP1chr1

62914337

+SGIP1chr1

67091530

+
Frame-shitENST00000371146ENST00000371035USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-3UTRENST00000371146ENST00000468286USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-3UTRENST00000371146ENST00000371036USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-3UTRENST00000371146ENST00000371037USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-intronENST00000371146ENST00000435165USP1chr1

62914337

+SGIP1chr1

67091530

+
Frame-shitENST00000339950ENST00000237247USP1chr1

62914337

+SGIP1chr1

67091530

+
Frame-shitENST00000339950ENST00000371039USP1chr1

62914337

+SGIP1chr1

67091530

+
Frame-shitENST00000339950ENST00000371035USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-3UTRENST00000339950ENST00000468286USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-3UTRENST00000339950ENST00000371036USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-3UTRENST00000339950ENST00000371037USP1chr1

62914337

+SGIP1chr1

67091530

+
5CDS-intronENST00000339950ENST00000435165USP1chr1

62914337

+SGIP1chr1

67091530

+

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FusionProtFeatures for USP1_SGIP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
USP1

O94782

SGIP1

Q9BQI5

Negative regulator of DNA damage repair whichspecifically deubiquitinates monoubiquitinated FANCD2(PubMed:15694335). Also involved in PCNA-mediated translesionsynthesis (TLS) by deubiquitinating monoubiquitinated PCNA(PubMed:16531995). Has almost no deubiquitinating activity byitself and requires the interaction with WDR48 to have a highactivity (PubMed:18082604, PubMed:26388029).{ECO:0000269|PubMed:15694335, ECO:0000269|PubMed:16531995,ECO:0000269|PubMed:18082604, ECO:0000269|PubMed:26388029}.

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 USP1_SGIP1


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 USP1_SGIP1


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
USP1ANXA2P2, CALML3, DSC1, DSG1, FLG, HSPB1, JUP, KPNA1, KRT4, KRT17, LGALS7, LYZ, MYH9, PKP1, USP4, PHLPP2, PHLPP1, WDR48, TAGLN2, CALML5, ALDH16A1, FANCD2, USP1, ATAD5, PCNA, ID2, UBC, VPS26A, WDR5, UNC45A, VPS36, UBE2A, CSE1L, TRAF6, PHF7, TRIM46, DTX3, CAPNS1, FZR1, ANAPC1, RAD51AP1, SOCS6, TP53, SORT1, SYNCRIP, KATNA1, TOR1AIP1, SGTB, CERK, USP43, BAG6, RSRP1, STAT2, LRRC15, UBE2K, AKT1SGIP1ITSN1, REPS1, AMPH, APP, EPS15


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 USP1_SGIP1


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 USP1_SGIP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSGIP1C0001973Alcoholic Intoxication, Chronic2PSYGENET