FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 35

FusionGeneSummary for AAK1_PDZRN4

check button Fusion gene summary
Fusion gene informationFusion gene name: AAK1_PDZRN4
Fusion gene ID: 35
HgeneTgene
Gene symbol

AAK1

PDZRN4

Gene ID

22848

29951

Gene nameAP2 associated kinase 1PDZ domain containing ring finger 4
Synonyms-LNX4|SAMCAP3L
Cytomap

2p13.3

12q12

Type of geneprotein-codingprotein-coding
DescriptionAP2-associated protein kinase 1adaptor-associated kinase 1PDZ domain-containing RING finger protein 4IMAGE5767589SEMACAP3-like proteinligand of Numb protein X 4
Modification date2018052320180523
UniProtAcc

Q2M2I8

Q6ZMN7

Ensembl transtripts involved in fusion geneENST00000409068, ENST00000409085, 
ENST00000406297, ENST00000470281, 
ENST00000402685, ENST00000539469, 
ENST00000298919, 
Fusion gene scores* DoF score9 X 6 X 7=37810 X 5 X 7=350
# samples 910
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/350*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AAK1 [Title/Abstract] AND PDZRN4 [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
HgeneAAK1

GO:0006468

protein phosphorylation

17494869|18657069

HgeneAAK1

GO:0032880

regulation of protein localization

18657069

HgeneAAK1

GO:0045747

positive regulation of Notch signaling pathway

21464124

HgeneAAK1

GO:0050821

protein stabilization

21464124

HgeneAAK1

GO:2000369

regulation of clathrin-dependent endocytosis

18657069


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
ChiTaRS3.1BF944461AAK1chr2

69748006

-PDZRN4chr12

41966915

+
* 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-3CDSENST00000409068ENST00000402685AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000409068ENST00000539469AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000409068ENST00000298919AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000409085ENST00000402685AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000409085ENST00000539469AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000409085ENST00000298919AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000406297ENST00000402685AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000406297ENST00000539469AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000406297ENST00000298919AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000470281ENST00000402685AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000470281ENST00000539469AAK1chr2

69748006

-PDZRN4chr12

41966915

+
intron-3CDSENST00000470281ENST00000298919AAK1chr2

69748006

-PDZRN4chr12

41966915

+

Top

FusionProtFeatures for AAK1_PDZRN4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AAK1

Q2M2I8

PDZRN4

Q6ZMN7

Regulates clathrin-mediated endocytosis byphosphorylating the AP2M1/mu2 subunit of the adaptor proteincomplex 2 (AP-2) which ensures high affinity binding of AP-2 tocargo membrane proteins during the initial stages of endocytosis.Isoform 1 and isoform 2 display similar levels of kinase activitytowards AP2M1. Regulates phosphorylation of other AP-2 subunits aswell as AP-2 localization and AP-2-mediated internalization ofligand complexes. Phosphorylates NUMB and regulates its cellularlocalization, promoting NUMB localization to endosomes. Binds toand stabilizes the activated form of NOTCH1, increases itslocalization in endosomes and regulates its transcriptionalactivity. {ECO:0000269|PubMed:12952931,ECO:0000269|PubMed:17494869, ECO:0000269|PubMed:18657069,ECO:0000269|PubMed:21464124}.

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


Top

FusionGeneSequence for AAK1_PDZRN4


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).

Top

FusionGenePPI for AAK1_PDZRN4


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


Top

RelatedDrugs for AAK1_PDZRN4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for AAK1_PDZRN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePDZRN4C0037116Silicosis1CTD_human