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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: 25705

FusionGeneSummary for PA2G4_JAK1

check button Fusion gene summary
Fusion gene informationFusion gene name: PA2G4_JAK1
Fusion gene ID: 25705
HgeneTgene
Gene symbol

PA2G4

JAK1

Gene ID

5036

3716

Gene nameproliferation-associated 2G4Janus kinase 1
SynonymsEBP1|HG4-1|p38-2G4JAK1A|JAK1B|JTK3
Cytomap

12q13.2

1p31.3

Type of geneprotein-codingprotein-coding
Descriptionproliferation-associated protein 2G4ErbB-3 binding protein 1ErbB3-binding protein Ebp1cell cycle protein p38-2G4 homologerbB3-binding protein 1proliferation-associated 2G4, 38kDproliferation-associated 2G4, 38kDatyrosine-protein kinase JAK1
Modification date2018052320180527
UniProtAcc

Q9UQ80

P23458

Ensembl transtripts involved in fusion geneENST00000303305, ENST00000552766, 
ENST00000342505, ENST00000465376, 
Fusion gene scores* DoF score3 X 3 X 3=279 X 8 X 4=288
# samples 310
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PA2G4 [Title/Abstract] AND JAK1 [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
HgenePA2G4

GO:0045892

negative regulation of transcription, DNA-templated

15073182

TgeneJAK1

GO:0038110

interleukin-2-mediated signaling pathway

11909529

TgeneJAK1

GO:0046677

response to antibiotic

16280321


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
ChiTaRS3.1CV396726PA2G4chr12

56507469

-JAK1chr1

65362875

-
* 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
3UTR-intronENST00000303305ENST00000342505PA2G4chr12

56507469

-JAK1chr1

65362875

-
3UTR-intronENST00000303305ENST00000465376PA2G4chr12

56507469

-JAK1chr1

65362875

-
intron-intronENST00000552766ENST00000342505PA2G4chr12

56507469

-JAK1chr1

65362875

-
intron-intronENST00000552766ENST00000465376PA2G4chr12

56507469

-JAK1chr1

65362875

-

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FusionProtFeatures for PA2G4_JAK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PA2G4

Q9UQ80

JAK1

P23458

May play a role in a ERBB3-regulated signal transductionpathway. Seems be involved in growth regulation. Acts acorepressor of the androgen receptor (AR) and is regulated by theERBB3 ligand neuregulin-1/heregulin (HRG). Inhibits transcriptionof some E2F1-regulated promoters, probably by recruiting histoneacetylase (HAT) activity. Binds RNA. Associates with 28S, 18S and5.8S mature rRNAs, several rRNA precursors and probably U3 smallnucleolar RNA. May be involved in regulation of intermediate andlate steps of rRNA processing. May be involved in ribosomeassembly. Mediates cap-independent translation of specific viralIRESs (internal ribosomal entry site) (By similarity). Regulatescell proliferation, differentiation, and survival. Isoform 1suppresses apoptosis whereas isoform 2 promotes celldifferentiation (By similarity). {ECO:0000250|UniProtKB:P50580,ECO:0000250|UniProtKB:Q6AYD3, ECO:0000269|PubMed:11268000,ECO:0000269|PubMed:12682367, ECO:0000269|PubMed:15064750,ECO:0000269|PubMed:15583694, ECO:0000269|PubMed:16832058}. Tyrosine kinase of the non-receptor type, involved inthe IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinasepartner for the interleukin (IL)-2 receptor (PubMed:11909529).{ECO:0000269|PubMed:11909529, ECO:0000269|PubMed:7615558}.

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 PA2G4_JAK1


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 PA2G4_JAK1


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 PA2G4_JAK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneJAK1P23458DB08877RuxolitinibTyrosine-protein kinase JAK1small moleculeapproved
TgeneJAK1P23458DB08895TofacitinibTyrosine-protein kinase JAK1small moleculeapproved|investigational

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RelatedDiseases for PA2G4_JAK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePA2G4C0038356Stomach Neoplasms1CTD_human