Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:APPBP2-WIPI1 (FusionGDB2 ID:HG10513TG55062)

Fusion Gene Summary for APPBP2-WIPI1

check button Fusion gene summary
Fusion gene informationFusion gene name: APPBP2-WIPI1
Fusion gene ID: hg10513tg55062
HgeneTgene
Gene symbol

APPBP2

WIPI1

Gene ID

10513

55062

Gene nameamyloid beta precursor protein binding protein 2WD repeat domain, phosphoinositide interacting 1
SynonymsAPP-BP2|HS.84084|PAT1ATG18|ATG18A|WIPI49
Cytomap('APPBP2')('WIPI1')

17q23.2

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionamyloid protein-binding protein 2amyloid beta precursor protein (cytoplasmic tail) binding protein 2protein interacting with APP tail 1WD repeat domain phosphoinositide-interacting protein 1WIPI-1 alphaatg18 protein homolog
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000083182, ENST00000592995, 
Fusion gene scores* DoF score13 X 9 X 8=9369 X 7 X 3=189
# samples 159
** MAII scorelog2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APPBP2 [Title/Abstract] AND WIPI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPPBP2(58577760)-WIPI1(66423394), # samples:1
Anticipated loss of major functional domain due to fusion event.APPBP2-WIPI1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
APPBP2-WIPI1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneAPPBP2

GO:0046907

intracellular transport

9843960

TgeneWIPI1

GO:0009267

cellular response to starvation

28561066

TgeneWIPI1

GO:0048203

vesicle targeting, trans-Golgi to endosome

15020712


check buttonFusion gene breakpoints across APPBP2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across WIPI1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-8364-01AAPPBP2chr17

58577760

-WIPI1chr17

66423394

-


Top

Fusion Gene ORF analysis for APPBP2-WIPI1

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
5CDS-5UTRENST00000083182ENST00000546360APPBP2chr17

58577760

-WIPI1chr17

66423394

-
5CDS-5UTRENST00000083182ENST00000589459APPBP2chr17

58577760

-WIPI1chr17

66423394

-
In-frameENST00000083182ENST00000262139APPBP2chr17

58577760

-WIPI1chr17

66423394

-
intron-3CDSENST00000592995ENST00000262139APPBP2chr17

58577760

-WIPI1chr17

66423394

-
intron-5UTRENST00000592995ENST00000546360APPBP2chr17

58577760

-WIPI1chr17

66423394

-
intron-5UTRENST00000592995ENST00000589459APPBP2chr17

58577760

-WIPI1chr17

66423394

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000083182APPBP2chr1758577760-ENST00000262139WIPI1chr1766423394-127451560782240

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000083182ENST00000262139APPBP2chr1758577760-WIPI1chr1766423394-0.0030725140.99692744

Top

Fusion Genomic Features for APPBP2-WIPI1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

Top

Fusion Protein Features for APPBP2-WIPI1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:58577760/chr17:66423394)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213120_15375586.0RepeatNote=TPR 2
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213206_23975586.0RepeatNote=TPR 3
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213288_32175586.0RepeatNote=TPR 4
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213333_36775586.0RepeatNote=TPR 5
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213429_46275586.0RepeatNote=TPR 6
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213471_50575586.0RepeatNote=TPR 7
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-21350_8375586.0RepeatNote=TPR 1
HgeneAPPBP2chr17:58577760chr17:66423394ENST00000083182-213514_54775586.0RepeatNote=TPR 8
TgeneWIPI1chr17:58577760chr17:66423394ENST00000262139913131_173357447.0RepeatNote=WD 4
TgeneWIPI1chr17:58577760chr17:66423394ENST00000262139913177_216357447.0RepeatNote=WD 5
TgeneWIPI1chr17:58577760chr17:66423394ENST00000262139913222_261357447.0RepeatNote=WD 6
TgeneWIPI1chr17:58577760chr17:66423394ENST00000262139913304_343357447.0RepeatNote=WD 7
TgeneWIPI1chr17:58577760chr17:66423394ENST000002621399133_42357447.0RepeatNote=WD 1
TgeneWIPI1chr17:58577760chr17:66423394ENST0000026213991347_88357447.0RepeatNote=WD 2
TgeneWIPI1chr17:58577760chr17:66423394ENST0000026213991392_126357447.0RepeatNote=WD 3


Top

Fusion Gene Sequence for APPBP2-WIPI1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>5663_5663_1_APPBP2-WIPI1_APPBP2_chr17_58577760_ENST00000083182_WIPI1_chr17_66423394_ENST00000262139_length(transcript)=1274nt_BP=515nt
GAGATCAGCGCTGGGACGGAACCCGGGTTCCTCTCGAACCGGGATTGTGACGCTTTTGGCCTGGCTGGCCGCTGTTTTCTGTCCCACTTT
TTACTCGGGCCTGCGTCCGCTGCCGCCGTCCCTCAGTTTGCCCCCGGAGGAGGCAGGGCGGCCGTGCCTTCTGCCGTGCGCCCGCGTGGC
TGCCACCGCCCCTCCGAATCCTCCGGGGCCGCAGAGGGGTTCGCTACGGAGGGAGGTGGGGGCCTTCGGGAGGAGGAGGCGGAGGAGGCG
GAGGAGGAGGGAAGGAAGATGGCGGCCGTGGAACTAGAGTGGATCCCAGAGACTCTCTATAACACCGCCATCTCCGCTGTCGTGGACAAC
TACATCCGCTCCCGCCGAGACATCCGCTCCTTGCCCGAGAACATCCAGTTTGATGTTTACTACAAGCTTTACCAACAGGGACGCTTATGT
CAACTGGGCAGTGAATTTTGTGAATTGGAAGTTTTTGCTAAAGTACTGAGAGCTTTGGATAAAAGCTTGCTTGGCTCAGGAACAACAGAA
GAGAATAAAGAAAATGACCTCAGACCTTCCTTACCTCAGTCTTATGCAGCGACCGTAGCCAGACCAAGTGCATCTTCAGCCTCCACGGTG
CCAGGTTATTCTGAGGACGGCGGGGCGCTGCGAGGAGAAGTTATTCCTGAACATGAGTTTGCGACGGGACCAGTGTGTCTTGATGATGAG
AATGAGTTTCCTCCTATAATCTTGTGCCGTGGAAATCAGAAGGGCAAAACGAAGCAGTCATGATGAGAAGCACACCTCAGAAATCAGGAC
ATCCCCCCTATCAGGTGGTTTTGGAGAAAACAAGGAAGGCGGAAGAATGGAGTGCAATTGTGTGAGCAGAAAGGGGGGCAGGAATCCCGG
GTGCTCCACTGCTTAAACCACAGGACCTGGTTAACTCCTCACCAAGCTTCCCACGACCCTGGTTGCCAATGGGCGCGGGAGACATTGTAT
ACACATCATGCTATTTAAAATACGTTCAAACTATAGTGTAAATGCTAATTAACCATATTGGTATATAACCGGAATTTTATATTAAAAGGG
GCCTCCTTTTTAAATATATGCCGTGTAAAAAATGTACTTATAGGAACATCTCTTTGAATTGTATTTCTTGTATATTACATACTTAGAGAG
AGACTCTTTTAGCCAGGCAAAGTCTTTTTTGGCTGTGGCTGGAATAAATCATTTATTACTTGGGAGTCCCATTTTGGACACTAATAATAA

>5663_5663_1_APPBP2-WIPI1_APPBP2_chr17_58577760_ENST00000083182_WIPI1_chr17_66423394_ENST00000262139_length(amino acids)=240AA_BP=151
MAGRCFLSHFLLGPASAAAVPQFAPGGGRAAVPSAVRPRGCHRPSESSGAAEGFATEGGGGLREEEAEEAEEEGRKMAAVELEWIPETLY
NTAISAVVDNYIRSRRDIRSLPENIQFDVYYKLYQQGRLCQLGSEFCELEVFAKVLRALDKSLLGSGTTEENKENDLRPSLPQSYAATVA

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for APPBP2-WIPI1


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

Related Drugs for APPBP2-WIPI1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for APPBP2-WIPI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0023794Lipoidosis3CTD_human
TgeneC0008370Cholestasis1CTD_human