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: 2119

FusionGeneSummary for APBA2_NBEAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: APBA2_NBEAP1
Fusion gene ID: 2119
HgeneTgene
Gene symbol

APBA2

NBEAP1

Gene ID

321

606

Gene nameamyloid beta precursor protein binding family A member 2neurobeachin pseudogene 1
SynonymsD15S1518E|HsT16821|LIN-10|MGC:14091|MINT2|X11-BETA|X11LBCL8|BCL8A
Cytomap

15q13.1

15q11.2

Type of geneprotein-codingpseudo
Descriptionamyloid-beta A4 precursor protein-binding family A member 2X11-like proteinadapter protein X11betaamyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)mint-2neuron-specific X11L proteinneuronal munc18-1-interacting protein 2phoB-cell CLL/lymphoma 8
Modification date2018052320180329
UniProtAcc

Q99767

Ensembl transtripts involved in fusion geneENST00000561069, ENST00000558402, 
ENST00000558330, ENST00000411764, 
ENST00000558259, 
ENST00000556948, 
Fusion gene scores* DoF score4 X 3 X 3=361 X 1 X 1=1
# samples 41
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: APBA2 [Title/Abstract] AND NBEAP1 [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

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
TCGALDLUADTCGA-86-8358-01AAPBA2chr15

29288009

+NBEAP1chr15

20876597

-
* 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-3CDSENST00000561069ENST00000556948APBA2chr15

29288009

+NBEAP1chr15

20876597

-
5UTR-3CDSENST00000558402ENST00000556948APBA2chr15

29288009

+NBEAP1chr15

20876597

-
5UTR-3CDSENST00000558330ENST00000556948APBA2chr15

29288009

+NBEAP1chr15

20876597

-
5UTR-3CDSENST00000411764ENST00000556948APBA2chr15

29288009

+NBEAP1chr15

20876597

-
5UTR-3CDSENST00000558259ENST00000556948APBA2chr15

29288009

+NBEAP1chr15

20876597

-

Top

FusionProtFeatures for APBA2_NBEAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APBA2

Q99767

NBEAP1

Putative function in synaptic vesicle exocytosis bybinding to STXBP1, an essential component of the synaptic vesicleexocytotic machinery. May modulate processing of the amyloid-betaprecursor protein (APP) and hence formation of APP-beta. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 APBA2_NBEAP1


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 APBA2_NBEAP1


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
APBA2CLSTN1, APP, PSEN2, LRP2, LRP1, LRP8, NECAB3, RELA, USP20, MAPK6, STXBP1, APBA1, IQSEC2, KLRG2, TRIM41, TJAP1, IQSEC1, AAGAB, APEX2, BTRC, USP33, PLD1, FBXW11, DMWD, ZNF518A, DDX24, HERC2NBEAP1


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 APBA2_NBEAP1


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 APBA2_NBEAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPBA2C0036341Schizophrenia1PSYGENET