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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: 18008

FusionGeneSummary for JAK1_PDE4B

check button Fusion gene summary
Fusion gene informationFusion gene name: JAK1_PDE4B
Fusion gene ID: 18008
HgeneTgene
Gene symbol

JAK1

PDE4B

Gene ID

3716

5142

Gene nameJanus kinase 1phosphodiesterase 4B
SynonymsJAK1A|JAK1B|JTK3DPDE4|PDEIVB
Cytomap

1p31.3

1p31.3

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase JAK1cAMP-specific 3',5'-cyclic phosphodiesterase 4Bdunce-like phosphodiesterase E4phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)
Modification date2018052720180519
UniProtAcc

P23458

Q07343

Ensembl transtripts involved in fusion geneENST00000342505, ENST00000465376, 
ENST00000329654, ENST00000371049, 
ENST00000423207, ENST00000371048, 
ENST00000371045, ENST00000480109, 
Fusion gene scores* DoF score6 X 4 X 5=1207 X 7 X 4=196
# samples 68
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: JAK1 [Title/Abstract] AND PDE4B [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

TgenePDE4B

GO:0006198

cAMP catabolic process

17404263


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
TCGALDPRADTCGA-ZG-A9M4-01AJAK1chr1

65432016

-PDE4Bchr1

66378928

+
* 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
5UTR-5UTRENST00000342505ENST00000329654JAK1chr1

65432016

-PDE4Bchr1

66378928

+
5UTR-intronENST00000342505ENST00000371049JAK1chr1

65432016

-PDE4Bchr1

66378928

+
5UTR-intronENST00000342505ENST00000423207JAK1chr1

65432016

-PDE4Bchr1

66378928

+
5UTR-intronENST00000342505ENST00000371048JAK1chr1

65432016

-PDE4Bchr1

66378928

+
5UTR-intronENST00000342505ENST00000371045JAK1chr1

65432016

-PDE4Bchr1

66378928

+
5UTR-intronENST00000342505ENST00000480109JAK1chr1

65432016

-PDE4Bchr1

66378928

+
intron-5UTRENST00000465376ENST00000329654JAK1chr1

65432016

-PDE4Bchr1

66378928

+
intron-intronENST00000465376ENST00000371049JAK1chr1

65432016

-PDE4Bchr1

66378928

+
intron-intronENST00000465376ENST00000423207JAK1chr1

65432016

-PDE4Bchr1

66378928

+
intron-intronENST00000465376ENST00000371048JAK1chr1

65432016

-PDE4Bchr1

66378928

+
intron-intronENST00000465376ENST00000371045JAK1chr1

65432016

-PDE4Bchr1

66378928

+
intron-intronENST00000465376ENST00000480109JAK1chr1

65432016

-PDE4Bchr1

66378928

+

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FusionProtFeatures for JAK1_PDE4B


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

P23458

PDE4B

Q07343

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}. Hydrolyzes the second messenger cAMP, which is a keyregulator of many important physiological processes. May beinvolved in mediating central nervous system effects oftherapeutic agents ranging from antidepressants to antiasthmaticand anti-inflammatory agents. {ECO:0000269|PubMed:10846163,ECO:0000269|PubMed:15003452}.

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_PDE4B


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_PDE4B


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
JAK1ATIC, ARRB1, ELF3, STAT3, ABL1, ABL2, GNB2L1, IL27RA, PRMT5, SHB, IL10RA, PTK2B, TEC, BTK, IRS1, IGF1R, BRCA1, IL2RB, IL6ST, STAM2, PTPN11, TYK2, TNFRSF1A, STAT5B, STAT5A, IRS2, ELP2, IL21R, GRB2, CSF3R, IL5RA, IL9R, PTPN6, PLAUR, IFNAR2, IL4R, IFNGR1, TSHR, GHR, RAF1, AGO4, CSF2RB, TIRAP, HIST3H3, SIRT1, SOCS1, SOCS3, EGFR, TOP1, STAT6, EIF4A3, MAGOH, SMURF1, IL2RG, JAK1, EIF2AK2, HSP90AA1, ERBB2, INSR, STAT1, UBL4A, JAK3, PLCG1, NPM1, PLA2G4A, MDM2, NOC2L, PML, TAGLN, DTX3L, DSP, FLG2, RNF125, TGFBR2, LPAR6, NTRK1, KRAS, CTDSPL2, FAM46A, KIF24, EID1, CFTR, OSMR, LAMP2, LAMP3, IL13RA2, MANSC1, APLNR, MAS1, HAVCR2, SLC15A1, LRRIQ1, CYLDPDE4BDISC1, PAFAH1B1, APOA1, ALB, MAGEA11, RCBTB2, MOV10, NXF1, NTRK1, XPO1, PDE4D


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_PDE4B


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
TgenePDE4BQ07343DB00201CaffeinecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved
TgenePDE4BQ07343DB00277TheophyllinecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved
TgenePDE4BQ07343DB00651DyphyllinecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved
TgenePDE4BQ07343DB01427AmrinonecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved
TgenePDE4BQ07343DB01656RoflumilastcAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved
TgenePDE4BQ07343DB00806PentoxifyllinecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved|investigational
TgenePDE4BQ07343DB01088IloprostcAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved|investigational
TgenePDE4BQ07343DB01113PapaverinecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved|investigational
TgenePDE4BQ07343DB01412TheobrominecAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved|investigational
TgenePDE4BQ07343DB05266IbudilastcAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved|investigational
TgenePDE4BQ07343DB05676ApremilastcAMP-specific 3',5'-cyclic phosphodiesterase 4Bsmall moleculeapproved|investigational

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RelatedDiseases for JAK1_PDE4B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDE4BC0011570Mental Depression5PSYGENET
TgenePDE4BC0011581Depressive disorder5PSYGENET
TgenePDE4BC0005586Bipolar Disorder4CTD_human;PSYGENET
TgenePDE4BC0036341Schizophrenia2CTD_human
TgenePDE4BC0001973Alcoholic Intoxication, Chronic1CTD_human
TgenePDE4BC0004096Asthma1CTD_human
TgenePDE4BC0004352Autistic Disorder1CTD_human
TgenePDE4BC0023467Leukemia, Myelocytic, Acute1CTD_human
TgenePDE4BC0037274Dermatologic disorders1CTD_human
TgenePDE4BC0151744Myocardial Ischemia1CTD_human
TgenePDE4BC0236733Amphetamine-Related Disorders1CTD_human
TgenePDE4BC0311375Arsenic Poisoning1CTD_human