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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:PIP5K1C-AKAP13 (FusionGDB2 ID:65522)

Fusion Gene Summary for PIP5K1C-AKAP13

check button Fusion gene summary
Fusion gene informationFusion gene name: PIP5K1C-AKAP13
Fusion gene ID: 65522
HgeneTgene
Gene symbol

PIP5K1C

AKAP13

Gene ID

23396

11214

Gene namephosphatidylinositol-4-phosphate 5-kinase type 1 gammaA-kinase anchoring protein 13
SynonymsLCCS3|PIP5K-GAMMA|PIP5K1-gamma|PIP5KgammaAKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47
Cytomap

19p13.3

15q25.3

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 4-phosphate 5-kinase type-1 gammadiphosphoinositide kinasephosphatidylinositol-4-phosphate 5-kinase, type I, gammaptdIns(4)P-5-kinase 1 gammatype I PIP kinaseA-kinase anchor protein 13A kinase (PRKA) anchor protein 13LBC oncogenebreast cancer nuclear receptor-binding auxiliary proteinguanine nucleotide exchange factor Lbchuman thyroid-anchoring protein 31lymphoid blast crisis oncogenenon-oncogenic Rho G
Modification date2020031320200313
UniProtAcc.

Q12802

Ensembl transtripts involved in fusion geneENST00000335312, ENST00000537021, 
ENST00000539785, ENST00000587482, 
ENST00000589578, 		ENST00000361243, 
ENST00000394510, ENST00000394518, 
ENST00000560302, ENST00000560579, 
Fusion gene scores* DoF score7 X 5 X 6=21019 X 22 X 6=2508
# samples 822
** MAII scorelog2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/2508*10)=-3.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIP5K1C [Title/Abstract] AND AKAP13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPIP5K1C(3692098)-AKAP13(86166954), # samples:1
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
TgeneAKAP13

GO:0007186

G protein-coupled receptor signaling pathway

11546812

TgeneAKAP13

GO:0035025

positive regulation of Rho protein signal transduction

11546812


check buttonFusion gene breakpoints across PIP5K1C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across AKAP13 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABF873394PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+


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Fusion Gene ORF analysis for PIP5K1C-AKAP13

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-intronENST00000335312ENST00000361243PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000335312ENST00000394510PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000335312ENST00000394518PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000335312ENST00000560302PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000335312ENST00000560579PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000537021ENST00000361243PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000537021ENST00000394510PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000537021ENST00000394518PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000537021ENST00000560302PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000537021ENST00000560579PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000539785ENST00000361243PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000539785ENST00000394510PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000539785ENST00000394518PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000539785ENST00000560302PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000539785ENST00000560579PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000587482ENST00000361243PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000587482ENST00000394510PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000587482ENST00000394518PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000587482ENST00000560302PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000587482ENST00000560579PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000589578ENST00000361243PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000589578ENST00000394510PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000589578ENST00000394518PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000589578ENST00000560302PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+
intron-intronENST00000589578ENST00000560579PIP5K1Cchr19

3692098

+AKAP13chr15

86166954

+

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 PIP5K1C-AKAP13


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.

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.

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Fusion Protein Features for PIP5K1C-AKAP13


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/:3692098/:86166954)
- 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
.AKAP13

Q12802

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: Scaffold protein that plays an important role in assembling signaling complexes downstream of several types of G protein-coupled receptors. Activates RHOA in response to signaling via G protein-coupled receptors via its function as Rho guanine nucleotide exchange factor (PubMed:11546812, PubMed:15229649, PubMed:23090968, PubMed:25186459, PubMed:24993829). May also activate other Rho family members (PubMed:11546812). Part of a kinase signaling complex that links ADRA1A and ADRA1B adrenergic receptor signaling to the activation of downstream p38 MAP kinases, such as MAPK11 and MAPK14 (PubMed:17537920, PubMed:23716597, PubMed:21224381). Part of a signaling complex that links ADRA1B signaling to the activation of RHOA and IKBKB/IKKB, leading to increased NF-kappa-B transcriptional activity (PubMed:23090968). Part of a RHOA-dependent signaling cascade that mediates responses to lysophosphatidic acid (LPA), a signaling molecule that activates G-protein coupled receptors and potentiates transcriptional activation of the glucocorticoid receptor NR3C1 (PubMed:16469733). Part of a signaling cascade that stimulates MEF2C-dependent gene expression in response to lysophosphatidic acid (LPA) (By similarity). Part of a signaling pathway that activates MAPK11 and/or MAPK14 and leads to increased transcription activation of the estrogen receptors ESR1 and ESR2 (PubMed:9627117, PubMed:11579095). Part of a signaling cascade that links cAMP and EGFR signaling to BRAF signaling and to PKA-mediated phosphorylation of KSR1, leading to the activation of downstream MAP kinases, such as MAPK1 or MAPK3 (PubMed:21102438). Functions as scaffold protein that anchors cAMP-dependent protein kinase (PKA) and PRKD1. This promotes activation of PRKD1, leading to increased phosphorylation of HDAC5 and ultimately cardiomyocyte hypertrophy (By similarity). Has no guanine nucleotide exchange activity on CDC42, Ras or Rac (PubMed:11546812). Required for normal embryonic heart development, and in particular for normal sarcomere formation in the developing cardiomyocytes (By similarity). Plays a role in cardiomyocyte growth and cardiac hypertrophy in response to activation of the beta-adrenergic receptor by phenylephrine or isoproterenol (PubMed:17537920, PubMed:23090968). Required for normal adaptive cardiac hypertrophy in response to pressure overload (PubMed:23716597). Plays a role in osteogenesis (By similarity). {ECO:0000250|UniProtKB:E9Q394, ECO:0000269|PubMed:11546812, ECO:0000269|PubMed:11579095, ECO:0000269|PubMed:17537920, ECO:0000269|PubMed:21224381, ECO:0000269|PubMed:23716597, ECO:0000269|PubMed:24993829, ECO:0000269|PubMed:25186459, ECO:0000269|PubMed:9627117, ECO:0000269|PubMed:9891067}.

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 PIP5K1C-AKAP13


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 PIP5K1C-AKAP13


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 PIP5K1C-AKAP13


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 PIP5K1C-AKAP13


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