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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: 18045

FusionGeneSummary for JAZF1_GTF2IRD1P1

check button Fusion gene summary
Fusion gene informationFusion gene name: JAZF1_GTF2IRD1P1
Fusion gene ID: 18045
HgeneTgene
Gene symbol

JAZF1

GTF2IRD1P1

Gene ID

221895

729156

Gene nameJAZF zinc finger 1GTF2I repeat domain containing 1 pseudogene 1
SynonymsTIP27|ZNF802-
Cytomap

7p15.2-p15.1

7q11.21

Type of geneprotein-codingpseudo
Descriptionjuxtaposed with another zinc finger protein 1TAK1-interacting protein 27juxtaposed with another zinc finger gene 1zinc finger protein 802GTF2I repeat domain containing 1 pseusogene 1
Modification date2018052320180519
UniProtAcc

Q86VZ6

Ensembl transtripts involved in fusion geneENST00000283928, ENST00000466516, 
ENST00000457166, 
Fusion gene scores* DoF score13 X 7 X 7=6371 X 1 X 1=1
# samples 131
** MAII scorelog2(13/637*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: JAZF1 [Title/Abstract] AND GTF2IRD1P1 [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
HgeneJAZF1

GO:0000122

negative regulation of transcription by RNA polymerase II

15302918


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
TCGALDMESOTCGA-TS-A8AY-01AJAZF1chr7

28031528

-GTF2IRD1P1chr7

66304921

-
* 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
5CDS-5UTRENST00000283928ENST00000457166JAZF1chr7

28031528

-GTF2IRD1P1chr7

66304921

-
intron-5UTRENST00000466516ENST00000457166JAZF1chr7

28031528

-GTF2IRD1P1chr7

66304921

-

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FusionProtFeatures for JAZF1_GTF2IRD1P1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JAZF1

Q86VZ6

GTF2IRD1P1

Acts as a transcriptional corepressor of orphan nuclearreceptor NR2C2 (PubMed:15302918). Inhibits expression of thegluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity(By similarity). Also involved in transcriptional activation ofNAMPT by promoting expression of PPARA and PPARD (By similarity).Plays a role in lipid metabolism by suppressing lipogenesis,increasing lipolysis and decreasing lipid accumulation in adiposetissue (By similarity). Plays a role in glucose homeostasis byimproving glucose metabolism and insulin sensitivity (Bysimilarity). {ECO:0000250|UniProtKB:Q80ZQ5,ECO:0000269|PubMed:15302918}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 JAZF1_GTF2IRD1P1


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 JAZF1_GTF2IRD1P1


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
JAZF1NR2C2, PPARG, RXRA, YEATS4, TRRAP, MEAF6, RUVBL1, MYCL, HIST1H2BA, MORF4L2GTF2IRD1P1TRIM25


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 JAZF1_GTF2IRD1P1


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 JAZF1_GTF2IRD1P1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJAZF1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneJAZF1C0014170Endometrial Neoplasms1CTD_human
HgeneJAZF1C0024141Lupus Erythematosus, Systemic1CTD_human
HgeneJAZF1C0033578Prostatic Neoplasms1CTD_human