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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: 17791

FusionGeneSummary for ITCH_PIGU

check button Fusion gene summary
Fusion gene informationFusion gene name: ITCH_PIGU
Fusion gene ID: 17791
HgeneTgene
Gene symbol

ITCH

PIGU

Gene ID

83737

128869

Gene nameitchy E3 ubiquitin protein ligasephosphatidylinositol glycan anchor biosynthesis class U
SynonymsADMFD|AIF4|AIP4|NAPP1CDC91L1|GAB1
Cytomap

20q11.22

20q11.22

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homologphosphatidylinositol glycan anchor biosynthesis class U proteinCDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1GPI transamidase component PIG-UGPI transamidase subunitcell division cycle 91-like 1 proteincell division cycle protein 91-li
Modification date2018052320180523
UniProtAcc

Q96J02

Q9H490

Ensembl transtripts involved in fusion geneENST00000374864, ENST00000535650, 
ENST00000262650, ENST00000483727, 
ENST00000374820, ENST00000452740, 
ENST00000480175, 
Fusion gene scores* DoF score18 X 13 X 12=280810 X 7 X 7=490
# samples 2212
** MAII scorelog2(22/2808*10)=-3.6739675067799
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/490*10)=-2.02974734339405
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITCH [Title/Abstract] AND PIGU [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Kinase involved fusion gene, inframe and retained kinase 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
HgeneITCH

GO:0006511

ubiquitin-dependent protein catabolic process

15678106

HgeneITCH

GO:0016567

protein ubiquitination

17592138|25631046

HgeneITCH

GO:0035519

protein K29-linked ubiquitination

17028573|18628966

HgeneITCH

GO:0070534

protein K63-linked ubiquitination

18718448|19592251

HgeneITCH

GO:0070936

protein K48-linked ubiquitination

19881509

TgenePIGU

GO:0006506

GPI anchor biosynthetic process

15034568

TgenePIGU

GO:0046425

regulation of JAK-STAT cascade

15034568


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
TCGARVCOADTCGA-G4-6303-01AITCHchr20

33077731

+PIGUchr20

33148783

-
TCGARVPRADTCGA-HC-7752-01AITCHchr20

33028149

+PIGUchr20

33148783

-
* 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-frameENST00000374864ENST00000374820ITCHchr20

33077731

+PIGUchr20

33148783

-
5CDS-3UTRENST00000374864ENST00000452740ITCHchr20

33077731

+PIGUchr20

33148783

-
5CDS-intronENST00000374864ENST00000480175ITCHchr20

33077731

+PIGUchr20

33148783

-
In-frameENST00000535650ENST00000374820ITCHchr20

33077731

+PIGUchr20

33148783

-
5CDS-3UTRENST00000535650ENST00000452740ITCHchr20

33077731

+PIGUchr20

33148783

-
5CDS-intronENST00000535650ENST00000480175ITCHchr20

33077731

+PIGUchr20

33148783

-
In-frameENST00000262650ENST00000374820ITCHchr20

33077731

+PIGUchr20

33148783

-
5CDS-3UTRENST00000262650ENST00000452740ITCHchr20

33077731

+PIGUchr20

33148783

-
5CDS-intronENST00000262650ENST00000480175ITCHchr20

33077731

+PIGUchr20

33148783

-
intron-3CDSENST00000483727ENST00000374820ITCHchr20

33077731

+PIGUchr20

33148783

-
intron-3UTRENST00000483727ENST00000452740ITCHchr20

33077731

+PIGUchr20

33148783

-
intron-intronENST00000483727ENST00000480175ITCHchr20

33077731

+PIGUchr20

33148783

-
Frame-shiftENST00000374864ENST00000374820ITCHchr20

33028149

+PIGUchr20

33148783

-
5CDS-3UTRENST00000374864ENST00000452740ITCHchr20

33028149

+PIGUchr20

33148783

-
5CDS-intronENST00000374864ENST00000480175ITCHchr20

33028149

+PIGUchr20

33148783

-
Frame-shiftENST00000535650ENST00000374820ITCHchr20

33028149

+PIGUchr20

33148783

-
5CDS-3UTRENST00000535650ENST00000452740ITCHchr20

33028149

+PIGUchr20

33148783

-
5CDS-intronENST00000535650ENST00000480175ITCHchr20

33028149

+PIGUchr20

33148783

-
Frame-shiftENST00000262650ENST00000374820ITCHchr20

33028149

+PIGUchr20

33148783

-
5CDS-3UTRENST00000262650ENST00000452740ITCHchr20

33028149

+PIGUchr20

33148783

-
5CDS-intronENST00000262650ENST00000480175ITCHchr20

33028149

+PIGUchr20

33148783

-
intron-3CDSENST00000483727ENST00000374820ITCHchr20

33028149

+PIGUchr20

33148783

-
intron-3UTRENST00000483727ENST00000452740ITCHchr20

33028149

+PIGUchr20

33148783

-
intron-intronENST00000483727ENST00000480175ITCHchr20

33028149

+PIGUchr20

33148783

-

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FusionProtFeatures for ITCH_PIGU


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

Q96J02

PIGU

Q9H490

Component of the GPI transamidase complex. May beinvolved in the recognition of either the GPI attachment signal orthe lipid portion of GPI. {ECO:0000269|PubMed:12802054}.

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
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326252_267814904Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225252_267773863Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124252_267663753Compositional biasNote=Arg/Pro-rich (PRR domain)
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326326_359814904DomainWW 1
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326358_391814904DomainWW 2
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326438_471814904DomainWW 3
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326478_511814904DomainWW 4
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+23265_99814904DomainC2
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225326_359773863DomainWW 1
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225358_391773863DomainWW 2
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225438_471773863DomainWW 3
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225478_511773863DomainWW 4
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+22255_99773863DomainC2
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124326_359663753DomainWW 1
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124358_391663753DomainWW 2
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124438_471663753DomainWW 3
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124478_511663753DomainWW 4
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+21245_99663753DomainC2
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326574_583814904RegionMAP kinase docking site
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225574_583773863RegionMAP kinase docking site
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124574_583663753RegionMAP kinase docking site
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911386_406378416TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITCHchr20:33077731chr20:33148783ENST00000262650+2326569_903814904DomainHECT
HgeneITCHchr20:33077731chr20:33148783ENST00000374864+2225569_903773863DomainHECT
HgeneITCHchr20:33077731chr20:33148783ENST00000535650+2124569_903663753DomainHECT
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911269_289378416RegionNote=May be involved in recognition of long-chain fatty acids in GPI
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911166_186378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911188_208378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911237_257378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911259_279378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911286_306378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911313_333378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-911355_375378416TransmembraneHelical
TgenePIGUchr20:33077731chr20:33148783ENST00000374820-91166_86378416TransmembraneHelical


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FusionGeneSequence for ITCH_PIGU


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 ITCH_PIGU


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
ITCHNEDD9, SFN, NUMB, SCNN1A, SCNN1B, ATN1, RIPK1, RNF11, CXCR4, ARRB2, ARRB1, ITCH, NFE2, DTX1, CFLAR, TP53, ERBB4, N4BP1, TP73, UBE2L3, USP13, YAP1, USP9X, JUN, FYN, SMAD7, MLANA, SMAD3, POLR2A, CPSF6, NUDT21, UBAP2L, SH3GL2, HGS, CBLC, TP63, OCLN, SNX9, SNX18, BID, NDFIP2, SPG20, MAP2K4, TRPV4, CYLD, CBL, SH3GLB1, GLI1, TNFRSF10B, LATS1, LAPTM5, TOLLIP, ARRDC1, SMAD2, TGFBR1, AMOT, ELAVL1, TAX1BP1, TRAF6, STAM, STAM2, CAV1, MAVS, PCBP2, ARHGEF7, PRKACA, CSNK2A1, SGK3, TXNIP, MAPK8, DVL1, DVL2, DVL3, USP12, WDR48, BECN1, KLF10, LITAF, CUL3, UBC, MDM2, GNAI2, UBE2E1, UBE2G1, UBE2D2, UBE2E3, UBE2J2, CDC34, UBE2K, POU5F1, GBA, MGRN1, ARRDC3, ARRDC4, ADRB2, FBXL15, RASSF5, UBE2D3, NOTCH1, ARID1A, URI1, EWSR1, POLR2B, POLR2C, POLR2E, SMARCC1, SMARCC2, SMARCE1, DAZAP1, RPAP2, HNRNPL, HNRNPUL1, CPSF7, PABPC1, SF1, RPAP3, UBAP2, WBP2, WWOX, DTX3L, SMAD6, EGFR, HTT, ATXN3, PTCH1, GSN, GGA3, KPNB1, FAM189B, TMEM51, TMEM171, PLEKHB2, GRAP2, FAM189A2, WBP1, TMEM255A, TMEM92, LDLRAD4, TP53BP2, GRB2, NCOA1, NDFIP1, MAP3K7, TAB1, UBE2D1, GLIS3, LDLRAD3, IKBKB, BIN1, PACSIN1, ITSN1, PDCD6IP, COL18A1, HDAC6, KPNA2, LRRK2, PCNA, SCAMP3, SLC1A5, SLC3A2, UBA1, UBA6, USP5, WWP1, SMN1, GEMIN8, DDX20, RASSF1, WWP2, SARAF, ILDR1, UBE2M, JUNB, MARVELD2PIGUGPAA1, PIGS, PIGK, PIGT, HS2ST1, KITLG, NRG1, AGTR1, TXNDC15, B3GNT3, LYPD3, PRSS50, ERGIC3, GAL3ST1, FNDC4, LPAR1, GLRA2, PVRL4, CLEC5A, TCTN2, TCTN3, TMEM17, VNN2, SPPL2B, YIPF3, SLC6A15, CDH13, STOM


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 ITCH_PIGU


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 ITCH_PIGU


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