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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: 2117

FusionGeneSummary for APBA1_SUSD1

check button Fusion gene summary
Fusion gene informationFusion gene name: APBA1_SUSD1
Fusion gene ID: 2117
HgeneTgene
Gene symbol

APBA1

SUSD1

Gene ID

320

64420

Gene nameamyloid beta precursor protein binding family A member 1sushi domain containing 1
SynonymsD9S411E|LIN10|MINT1|X11|X11A|X11ALPHA-
Cytomap

9q21.12

9q31.3-q32

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta A4 precursor protein-binding family A member 1adapter protein X11alphaadaptor protein X11alphaamyloid beta (A4) precursor protein-binding, family A, member 1 (X11)mint-1neuron-specific X11 proteinneuronal munc18-1-interacting protein 1sushi domain-containing protein 1
Modification date2018052320180519
UniProtAcc

Q02410

Q6UWL2

Ensembl transtripts involved in fusion geneENST00000265381, ENST00000470082, 
ENST00000374263, ENST00000374270, 
ENST00000374264, ENST00000482851, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 1 X 2=6
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/6*10)=2.32192809488736
Context

PubMed: APBA1 [Title/Abstract] AND SUSD1 [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
TCGARVSARCTCGA-K1-A6RU-01AAPBA1chr9

72071163

-SUSD1chr9

114804240

-
* 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
Frame-shiftENST00000265381ENST00000374263APBA1chr9

72071163

-SUSD1chr9

114804240

-
Frame-shiftENST00000265381ENST00000374270APBA1chr9

72071163

-SUSD1chr9

114804240

-
Frame-shiftENST00000265381ENST00000374264APBA1chr9

72071163

-SUSD1chr9

114804240

-
5CDS-intronENST00000265381ENST00000482851APBA1chr9

72071163

-SUSD1chr9

114804240

-
intron-3CDSENST00000470082ENST00000374263APBA1chr9

72071163

-SUSD1chr9

114804240

-
intron-3CDSENST00000470082ENST00000374270APBA1chr9

72071163

-SUSD1chr9

114804240

-
intron-3CDSENST00000470082ENST00000374264APBA1chr9

72071163

-SUSD1chr9

114804240

-
intron-intronENST00000470082ENST00000482851APBA1chr9

72071163

-SUSD1chr9

114804240

-

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FusionProtFeatures for APBA1_SUSD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APBA1

Q02410

SUSD1

Q6UWL2

Putative function in synaptic vesicle exocytosis bybinding to Munc18-1, an essential component of the synapticvesicle exocytotic machinery. May modulate processing of theamyloid-beta precursor protein (APP) and hence formation of APP-beta.

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 APBA1_SUSD1


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 APBA1_SUSD1


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
APBA1KCNJ12, DLG1, LIN7B, LIN7C, APP, PSEN2, HTR2C, CNTNAP4, CNTNAP3, CCS, CASK, STXBP1, APBA2SUSD1FBXO6, PTPRK, RNASE13, EGFR, DEFA1, ST8SIA4, B4GAT1, LMAN2L, CLEC2D, SCGB1D1, MPPE1, INSL5


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 APBA1_SUSD1


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 APBA1_SUSD1


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