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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: 36184

FusionGeneSummary for SSR2_AAK1

check button Fusion gene summary
Fusion gene informationFusion gene name: SSR2_AAK1
Fusion gene ID: 36184
HgeneTgene
Gene symbol

SSR2

AAK1

Gene ID

6746

22848

Gene namesignal sequence receptor subunit 2AP2 associated kinase 1
SynonymsHSD25|TLAP|TRAP-BETA|TRAPB-
Cytomap

1q22

2p13.3

Type of geneprotein-codingprotein-coding
Descriptiontranslocon-associated protein subunit betaSSR-betasignal sequence receptor subunit betasignal sequence receptor, beta (translocon-associated protein beta)translocon-associated protein betaAP2-associated protein kinase 1adaptor-associated kinase 1
Modification date2018052320180523
UniProtAcc

P43308

Q2M2I8

Ensembl transtripts involved in fusion geneENST00000295702, ENST00000529008, 
ENST00000496742, ENST00000480567, 
ENST00000409068, ENST00000409085, 
ENST00000406297, ENST00000470281, 
Fusion gene scores* DoF score5 X 5 X 3=755 X 5 X 2=50
# samples 55
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: SSR2 [Title/Abstract] AND AAK1 [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
TgeneAAK1

GO:0006468

protein phosphorylation

17494869|18657069

TgeneAAK1

GO:0032880

regulation of protein localization

18657069

TgeneAAK1

GO:0045747

positive regulation of Notch signaling pathway

21464124

TgeneAAK1

GO:0050821

protein stabilization

21464124

TgeneAAK1

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
ChiTaRS3.1AA576517SSR2chr1

155978997

+AAK1chr2

69746092

+
* 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-3CDSENST00000295702ENST00000409068SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000295702ENST00000409085SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000295702ENST00000406297SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-intronENST00000295702ENST00000470281SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000529008ENST00000409068SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000529008ENST00000409085SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000529008ENST00000406297SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-intronENST00000529008ENST00000470281SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000496742ENST00000409068SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000496742ENST00000409085SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000496742ENST00000406297SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-intronENST00000496742ENST00000470281SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000480567ENST00000409068SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000480567ENST00000409085SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-3CDSENST00000480567ENST00000406297SSR2chr1

155978997

+AAK1chr2

69746092

+
intron-intronENST00000480567ENST00000470281SSR2chr1

155978997

+AAK1chr2

69746092

+

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FusionProtFeatures for SSR2_AAK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SSR2

P43308

AAK1

Q2M2I8

TRAP proteins are part of a complex whose function is tobind calcium to the ER membrane and thereby regulate the retentionof ER resident proteins. 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 SSR2_AAK1


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 SSR2_AAK1


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
SSR2SRPR, NXF1, RPN1, ATP1A1, UQCRC2AAK1AP2M1, 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, WNK1


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 SSR2_AAK1


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 SSR2_AAK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSSR2C0033578Prostatic Neoplasms1CTD_human