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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:APLP2-KCNJ5 (FusionGDB2 ID:HG334TG3762)

Fusion Gene Summary for APLP2-KCNJ5

check button Fusion gene summary
Fusion gene informationFusion gene name: APLP2-KCNJ5
Fusion gene ID: hg334tg3762
HgeneTgene
Gene symbol

APLP2

KCNJ5

Gene ID

334

3762

Gene nameamyloid beta precursor like protein 2potassium inwardly rectifying channel subfamily J member 5
SynonymsAPLP-2|APPH|APPL2|CDEBPCIR|GIRK4|KATP1|KIR3.4|LQT13
Cytomap('APLP2')('KCNJ5')

11q24.3

11q24.3

Type of geneprotein-codingprotein-coding
Descriptionamyloid-like protein 2CDEI box-binding proteinamyloid beta (A4) precursor-like protein 2amyloid precursor protein homolog HSD-2testicular tissue protein Li 23G protein-activated inward rectifier potassium channel 4IRK-4cardiac ATP-sensitive potassium channelheart KATP channelinward rectifier K+ channel KIR3.4potassium channel, inwardly rectifying subfamily J, member 5potassium voltage-gated channel subfa
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000532456, ENST00000263574, 
ENST00000338167, ENST00000345598, 
ENST00000528499, ENST00000539648, 
ENST00000278756, ENST00000543137, 
Fusion gene scores* DoF score32 X 25 X 10=80001 X 2 X 1=2
# samples 362
** MAII scorelog2(36/8000*10)=-4.47393118833241
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/2*10)=3.32192809488736
Context

PubMed: APLP2 [Title/Abstract] AND KCNJ5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPLP2(129939977)-KCNJ5(128781159), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneKCNJ5

GO:1990573

potassium ion import across plasma membrane

12297500|20560207



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
ChimerDB4BRCATCGA-AN-A0FS-01AAPLP2chr11

129939977

-KCNJ5chr11

128781159

+
ChimerDB4BRCATCGA-AN-A0FS-01AAPLP2chr11

129939977

+KCNJ5chr11

128781159

+
ChimerDB4BRCATCGA-AN-A0FSAPLP2chr11

129939977

+KCNJ5chr11

128781158

+


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Fusion Gene ORF analysis for APLP2-KCNJ5

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
3UTR-5UTRENST00000532456ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
3UTR-5UTRENST00000532456ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
3UTR-5UTRENST00000532456ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
3UTR-5UTRENST00000532456ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
3UTR-5UTRENST00000532456ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
3UTR-5UTRENST00000532456ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000263574ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000263574ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000263574ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000263574ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000263574ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000263574ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000338167ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000338167ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000338167ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000338167ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000338167ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000338167ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000345598ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000345598ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000345598ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000345598ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000345598ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000345598ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000528499ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000528499ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000528499ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000528499ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5CDS-5UTRENST00000528499ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5CDS-5UTRENST00000528499ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5UTR-5UTRENST00000539648ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5UTR-5UTRENST00000539648ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5UTR-5UTRENST00000539648ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5UTR-5UTRENST00000539648ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
5UTR-5UTRENST00000539648ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
5UTR-5UTRENST00000539648ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
intron-5UTRENST00000278756ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
intron-5UTRENST00000278756ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
intron-5UTRENST00000278756ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
intron-5UTRENST00000278756ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
intron-5UTRENST00000278756ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
intron-5UTRENST00000278756ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+
intron-5UTRENST00000543137ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781159

+
intron-5UTRENST00000543137ENST00000338350APLP2chr11

129939977

+KCNJ5chr11

128781158

+
intron-5UTRENST00000543137ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781159

+
intron-5UTRENST00000543137ENST00000529694APLP2chr11

129939977

+KCNJ5chr11

128781158

+
intron-5UTRENST00000543137ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781159

+
intron-5UTRENST00000543137ENST00000533599APLP2chr11

129939977

+KCNJ5chr11

128781158

+

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)

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

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Fusion Genomic Features for APLP2-KCNJ5


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)
APLP2chr11129939977+KCNJ5chr11128781158+1.82E-050.9999819
APLP2chr11129939977+KCNJ5chr11128781158+1.82E-050.9999819
APLP2chr11129939977+KCNJ5chr11128781158+1.82E-050.9999819
APLP2chr11129939977+KCNJ5chr11128781158+1.82E-050.9999819


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for APLP2-KCNJ5


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/:129939977/:128781159)
- 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


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Fusion Gene Sequence for APLP2-KCNJ5


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.

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Fusion Gene PPI Analysis for APLP2-KCNJ5


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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Related Drugs for APLP2-KCNJ5


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

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Related Diseases for APLP2-KCNJ5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPLP2C0027746Nerve Degeneration1CTD_human
HgeneAPLP2C0151744Myocardial Ischemia1CTD_human
TgeneC3150933HYPERALDOSTERONISM, FAMILIAL, TYPE III12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3150733LONG QT SYNDROME 133CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0001430Adenoma2CTD_human
TgeneC0004238Atrial Fibrillation2CTD_human
TgeneC0205646Adenoma, Basal Cell2CTD_human
TgeneC0205647Follicular adenoma2CTD_human
TgeneC0205648Adenoma, Microcystic2CTD_human
TgeneC0205649Adenoma, Monomorphic2CTD_human
TgeneC0205650Papillary adenoma2CTD_human
TgeneC0205651Adenoma, Trabecular2CTD_human
TgeneC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneC2585653Persistent atrial fibrillation2CTD_human
TgeneC3468561familial atrial fibrillation2CTD_human
TgeneC0004331Auriculo-Ventricular Dissociation1CTD_human
TgeneC0018794Heart Block1CTD_human
TgeneC0035828Romano-Ward Syndrome1ORPHANET
TgeneC0037052Sick Sinus Syndrome1CTD_human
TgeneC0428908Sinus Node Dysfunction (disorder)1CTD_human
TgeneC1563715Andersen Syndrome1ORPHANET