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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: 2131

FusionGeneSummary for APBB2_PACS1

check button Fusion gene summary
Fusion gene informationFusion gene name: APBB2_PACS1
Fusion gene ID: 2131
HgeneTgene
Gene symbol

APBB2

PACS1

Gene ID

323

55690

Gene nameamyloid beta precursor protein binding family B member 2phosphofurin acidic cluster sorting protein 1
SynonymsFE65L|FE65L1MRD17|SHMS
Cytomap

4p14-p13

11q13.1-q13.2

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta A4 precursor protein-binding family B member 2Fe65-like 1protein Fe65-like 1phosphofurin acidic cluster sorting protein 1PACS-1cytosolic sorting protein PACS-1
Modification date2018052320180523
UniProtAcc

Q92870

Q6VY07

Ensembl transtripts involved in fusion geneENST00000295974, ENST00000513140, 
ENST00000508593, ENST00000506352, 
ENST00000511572, ENST00000543538, 
ENST00000502841, ENST00000504305, 
ENST00000320580, ENST00000529757, 
ENST00000524815, 
Fusion gene scores* DoF score8 X 8 X 3=19216 X 11 X 9=1584
# samples 819
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/1584*10)=-3.05950101174866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APBB2 [Title/Abstract] AND PACS1 [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
ChiTaRS3.1BG619580APBB2chr4

41125323

-PACS1chr11

66011881

+
* 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-3UTRENST00000295974ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000295974ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000295974ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000513140ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000513140ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000513140ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000508593ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000508593ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000508593ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000506352ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000506352ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000506352ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000511572ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000511572ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000511572ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000543538ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000543538ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000543538ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000502841ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000502841ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000502841ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-3UTRENST00000504305ENST00000320580APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000504305ENST00000529757APBB2chr4

41125323

-PACS1chr11

66011881

+
intron-intronENST00000504305ENST00000524815APBB2chr4

41125323

-PACS1chr11

66011881

+

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FusionProtFeatures for APBB2_PACS1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APBB2

Q92870

PACS1

Q6VY07

May modulate the internalization of amyloid-betaprecursor protein.

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 APBB2_PACS1


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 APBB2_PACS1


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


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RelatedDrugs for APBB2_PACS1


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 APBB2_PACS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPBB2C0043094Weight Gain1CTD_human
TgenePACS1C0028754Obesity1CTD_human
TgenePACS1C0236969Substance-Related Disorders1CTD_human
TgenePACS1C3554343MENTAL RETARDATION, AUTOSOMAL DOMINANT 171ORPHANET;UNIPROT