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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: 32

FusionGeneSummary for AAK1_GALNT14

check button Fusion gene summary
Fusion gene informationFusion gene name: AAK1_GALNT14
Fusion gene ID: 32
HgeneTgene
Gene symbol

AAK1

GALNT14

Gene ID

22848

79623

Gene nameAP2 associated kinase 1polypeptide N-acetylgalactosaminyltransferase 14
Synonyms-GALNT15|GalNac-T10|GalNac-T14
Cytomap

2p13.3

2p23.1

Type of geneprotein-codingprotein-coding
DescriptionAP2-associated protein kinase 1adaptor-associated kinase 1polypeptide N-acetylgalactosaminyltransferase 14UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase T10UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (
Modification date2018052320180523
UniProtAcc

Q2M2I8

Q96FL9

Ensembl transtripts involved in fusion geneENST00000409068, ENST00000409085, 
ENST00000406297, ENST00000470281, 
ENST00000324589, ENST00000349752, 
ENST00000406653, ENST00000356174, 
ENST00000420311, ENST00000486564, 
Fusion gene scores* DoF score9 X 6 X 7=3785 X 7 X 5=175
# samples 910
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/175*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AAK1 [Title/Abstract] AND GALNT14 [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
TCGALDHNSCTCGA-CV-7255-01AAAK1chr2

69783992

-GALNT14chr2

31369976

-
* 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-intronENST00000409068ENST00000324589AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409068ENST00000349752AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409068ENST00000406653AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409068ENST00000356174AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409068ENST00000420311AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409068ENST00000486564AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409085ENST00000324589AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409085ENST00000349752AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409085ENST00000406653AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409085ENST00000356174AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409085ENST00000420311AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000409085ENST00000486564AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000406297ENST00000324589AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000406297ENST00000349752AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000406297ENST00000406653AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000406297ENST00000356174AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000406297ENST00000420311AAK1chr2

69783992

-GALNT14chr2

31369976

-
5CDS-intronENST00000406297ENST00000486564AAK1chr2

69783992

-GALNT14chr2

31369976

-
intron-intronENST00000470281ENST00000324589AAK1chr2

69783992

-GALNT14chr2

31369976

-
intron-intronENST00000470281ENST00000349752AAK1chr2

69783992

-GALNT14chr2

31369976

-
intron-intronENST00000470281ENST00000406653AAK1chr2

69783992

-GALNT14chr2

31369976

-
intron-intronENST00000470281ENST00000356174AAK1chr2

69783992

-GALNT14chr2

31369976

-
intron-intronENST00000470281ENST00000420311AAK1chr2

69783992

-GALNT14chr2

31369976

-
intron-intronENST00000470281ENST00000486564AAK1chr2

69783992

-GALNT14chr2

31369976

-

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FusionProtFeatures for AAK1_GALNT14


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

Q2M2I8

GALNT14

Q96FL9

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


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FusionGeneSequence for AAK1_GALNT14


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 AAK1_GALNT14


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
AAK1AP2M1, ATP13A2, APP, AP2A1, AP2B1, NTRK1, DYNLT1, XPO1, CLTB, CLTC, GAK, HSPA5, GTSE1, ANLN, CDH1, AP2S1, REPS1, RUNDC3A, RALBP1, PLEC, PPIP5K2, SEC24B, CCDC88A, EYA4, UBE2D2, LUZP1, URGCP, NUP88, DVL3, QSER1, WNK1GALNT14MUC2, MUC7, MUC13, MUC5AC


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 AAK1_GALNT14


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 AAK1_GALNT14


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