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: 2255

FusionGeneSummary for APPL2_APPL2

check button Fusion gene summary
Fusion gene informationFusion gene name: APPL2_APPL2
Fusion gene ID: 2255
HgeneTgene
Gene symbol

APPL2

APPL2

Gene ID

55198

55198

Gene nameadaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
SynonymsDIP13BDIP13B
Cytomap

12q23.3

12q23.3

Type of geneprotein-codingprotein-coding
DescriptionDCC-interacting protein 13-betaDIP13 betaadapter protein containing PH domain, PTB domain and leucine zipper motif 2adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2DCC-interacting protein 13-betaDIP13 betaadapter protein containing PH domain, PTB domain and leucine zipper motif 2adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
Modification date2018052320180523
UniProtAcc

Q8NEU8

Q8NEU8

Ensembl transtripts involved in fusion geneENST00000258530, ENST00000539978, 
ENST00000546731, ENST00000551662, 
ENST00000549573, 
ENST00000258530, 
ENST00000539978, ENST00000546731, 
ENST00000551662, ENST00000549573, 
Fusion gene scores* DoF score5 X 5 X 4=1004 X 4 X 3=48
# samples 54
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APPL2 [Title/Abstract] AND APPL2 [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
HgeneAPPL2

GO:0008283

cell proliferation

15016378

TgeneAPPL2

GO:0008283

cell proliferation

15016378


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
ChiTaRS3.1BF092438APPL2chr12

105567301

+APPL2chr12

105567160

-
* 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-3UTRENST00000258530ENST00000258530APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000258530ENST00000539978APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000258530ENST00000546731APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000258530ENST00000551662APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000258530ENST00000549573APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-3UTRENST00000539978ENST00000258530APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000539978ENST00000539978APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000539978ENST00000546731APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000539978ENST00000551662APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000539978ENST00000549573APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-3UTRENST00000546731ENST00000258530APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000546731ENST00000539978APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000546731ENST00000546731APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000546731ENST00000551662APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000546731ENST00000549573APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-3UTRENST00000551662ENST00000258530APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000551662ENST00000539978APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000551662ENST00000546731APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000551662ENST00000551662APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000551662ENST00000549573APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-3UTRENST00000549573ENST00000258530APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000549573ENST00000539978APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000549573ENST00000546731APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000549573ENST00000551662APPL2chr12

105567301

+APPL2chr12

105567160

-
intron-intronENST00000549573ENST00000549573APPL2chr12

105567301

+APPL2chr12

105567160

-

Top

FusionProtFeatures for APPL2_APPL2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APPL2

Q8NEU8

APPL2

Q8NEU8

Required for the regulation of cell proliferation inresponse to extracellular signals mediated by an early endosomalcompartment. Links Rab5 to nuclear signal transduction.{ECO:0000269|PubMed:15016378}. Required for the regulation of cell proliferation inresponse to extracellular signals mediated by an early endosomalcompartment. Links Rab5 to nuclear signal transduction.{ECO:0000269|PubMed:15016378}.

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 APPL2_APPL2


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 APPL2_APPL2


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 APPL2_APPL2


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 APPL2_APPL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPPL2C0033578Prostatic Neoplasms1CTD_human
HgeneAPPL2C0236969Substance-Related Disorders1CTD_human
TgeneAPPL2C0033578Prostatic Neoplasms1CTD_human
TgeneAPPL2C0236969Substance-Related Disorders1CTD_human