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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: 18007

FusionGeneSummary for JAK1_JAK1

check button Fusion gene summary
Fusion gene informationFusion gene name: JAK1_JAK1
Fusion gene ID: 18007
HgeneTgene
Gene symbol

JAK1

JAK1

Gene ID

3716

3716

Gene nameJanus kinase 1Janus kinase 1
SynonymsJAK1A|JAK1B|JTK3JAK1A|JAK1B|JTK3
Cytomap

1p31.3

1p31.3

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase JAK1tyrosine-protein kinase JAK1
Modification date2018052720180527
UniProtAcc

P23458

P23458

Ensembl transtripts involved in fusion geneENST00000342505, ENST00000465376, 
ENST00000342505, ENST00000465376, 
Fusion gene scores* DoF score6 X 4 X 5=1209 X 8 X 4=288
# samples 610
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: JAK1 [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
HgeneJAK1

GO:0038110

interleukin-2-mediated signaling pathway

11909529

HgeneJAK1

GO:0046677

response to antibiotic

16280321

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
ChiTaRS3.1DB350514JAK1chr1

65305974

-JAK1chr1

65322384

-
* 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-intronENST00000342505ENST00000342505JAK1chr1

65305974

-JAK1chr1

65322384

-
intron-intronENST00000342505ENST00000465376JAK1chr1

65305974

-JAK1chr1

65322384

-
intron-intronENST00000465376ENST00000342505JAK1chr1

65305974

-JAK1chr1

65322384

-
intron-intronENST00000465376ENST00000465376JAK1chr1

65305974

-JAK1chr1

65322384

-

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FusionProtFeatures for JAK1_JAK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JAK1

P23458

JAK1

P23458

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}. 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 JAK1_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 JAK1_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 JAK1_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
HgeneJAK1P23458DB08877RuxolitinibTyrosine-protein kinase JAK1small moleculeapproved
HgeneJAK1P23458DB08895TofacitinibTyrosine-protein kinase JAK1small moleculeapproved|investigational
TgeneJAK1P23458DB08877RuxolitinibTyrosine-protein kinase JAK1small moleculeapproved
TgeneJAK1P23458DB08895TofacitinibTyrosine-protein kinase JAK1small moleculeapproved|investigational

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RelatedDiseases for JAK1_JAK1


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