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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:ACTN4-MAP4K1 (FusionGDB2 ID:1788)

Fusion Gene Summary for ACTN4-MAP4K1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN4-MAP4K1
Fusion gene ID: 1788
HgeneTgene
Gene symbol

ACTN4

MAP4K1

Gene ID

81

11184

Gene nameactinin alpha 4mitogen-activated protein kinase kinase kinase kinase 1
SynonymsACTININ-4|FSGS|FSGS1HPK1
Cytomap

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4mitogen-activated protein kinase kinase kinase kinase 1MAPK/ERK kinase kinase kinase 1MEK kinase kinase 1MEKKK 1hematopoietic progenitor kinase 1
Modification date2020032720200327
UniProtAcc.

Q92918

Ensembl transtripts involved in fusion geneENST00000252699, ENST00000390009, 
ENST00000424234, ENST00000497637, 
ENST00000423454, ENST00000589002, 
ENST00000396857, ENST00000586296, 
ENST00000589130, ENST00000591517, 
Fusion gene scores* DoF score42 X 60 X 18=453606 X 6 X 5=180
# samples 776
** MAII scorelog2(77/45360*10)=-5.88041838424733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTN4 [Title/Abstract] AND MAP4K1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTN4(39138547)-MAP4K1(39108265), # 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
HgeneACTN4

GO:0033209

tumor necrosis factor-mediated signaling pathway

25411248

HgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

HgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

HgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771

TgeneMAP4K1

GO:0006468

protein phosphorylation

8824585

TgeneMAP4K1

GO:0007257

activation of JUN kinase activity

8824585

TgeneMAP4K1

GO:0018105

peptidyl-serine phosphorylation

11053428|24362026

TgeneMAP4K1

GO:0046777

protein autophosphorylation

8824585|24362026

TgeneMAP4K1

GO:1904628

cellular response to phorbol 13-acetate 12-myristate

8824585


check buttonFusion gene breakpoints across ACTN4 (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 MAP4K1 (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 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
ChimerDB4ESCATCGA-JY-A6FHACTN4chr19

39138547

+MAP4K1chr19

39108265

-


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Fusion Gene ORF analysis for ACTN4-MAP4K1

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-intronENST00000252699ENST00000423454ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
5CDS-intronENST00000252699ENST00000589002ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
5CDS-intronENST00000390009ENST00000423454ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
5CDS-intronENST00000390009ENST00000589002ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
5CDS-intronENST00000424234ENST00000423454ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
5CDS-intronENST00000424234ENST00000589002ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000252699ENST00000396857ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000252699ENST00000586296ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000252699ENST00000589130ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000252699ENST00000591517ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000390009ENST00000396857ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000390009ENST00000586296ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000390009ENST00000589130ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000390009ENST00000591517ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000424234ENST00000396857ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000424234ENST00000586296ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000424234ENST00000589130ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
In-frameENST00000424234ENST00000591517ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
intron-3CDSENST00000497637ENST00000396857ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
intron-3CDSENST00000497637ENST00000586296ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
intron-3CDSENST00000497637ENST00000589130ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
intron-3CDSENST00000497637ENST00000591517ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
intron-intronENST00000497637ENST00000423454ACTN4chr19

39138547

+MAP4K1chr19

39108265

-
intron-intronENST00000497637ENST00000589002ACTN4chr19

39138547

+MAP4K1chr19

39108265

-

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 ACTN4-MAP4K1


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

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 ACTN4-MAP4K1


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/chr19:39138547/chr19:39108265)
- 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
.MAP4K1

Q92918

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: Serine/threonine-protein kinase, which may play a role in the response to environmental stress (PubMed:24362026). Appears to act upstream of the JUN N-terminal pathway (PubMed:8824585). May play a role in hematopoietic lineage decisions and growth regulation (PubMed:8824585, PubMed:24362026). Able to autophosphorylate (PubMed:8824585). Together with CLNK, it enhances CD3-triggered activation of T-cells and subsequent IL2 production (By similarity). {ECO:0000250|UniProtKB:P70218, ECO:0000269|PubMed:24362026, ECO:0000269|PubMed:8824585}.

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
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+12119_2654912.0Compositional biasPoly-Gly
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+11419_2654693.0Compositional biasPoly-Gly
TgeneMAP4K1chr19:39138547chr19:39108265ENST00000396857031495_80033822.0DomainCNH
TgeneMAP4K1chr19:39138547chr19:39108265ENST00000591517032495_80033834.0DomainCNH

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121778_78954912.0Calcium binding1
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121819_83054912.0Calcium binding2
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114778_78954693.0Calcium binding1
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114819_83054693.0Calcium binding2
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121163_26954912.0DomainCalponin-homology (CH) 2
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+12150_15454912.0DomainCalponin-homology (CH) 1
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121765_80054912.0DomainEF-hand 1
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121806_84154912.0DomainEF-hand 2
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114163_26954693.0DomainCalponin-homology (CH) 2
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+11450_15454693.0DomainCalponin-homology (CH) 1
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114765_80054693.0DomainEF-hand 1
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114806_84154693.0DomainEF-hand 2
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+12184_8854912.0MotifLXXLL motif
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+11484_8854693.0MotifLXXLL motif
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121177_19254912.0RegionPolyphosphoinositide (PIP2)-binding
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+1211_26954912.0RegionNote=Actin-binding
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114177_19254693.0RegionPolyphosphoinositide (PIP2)-binding
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+1141_26954693.0RegionNote=Actin-binding
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121293_40354912.0RepeatSpectrin 1
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121413_51854912.0RepeatSpectrin 2
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121528_63954912.0RepeatSpectrin 3
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121649_75254912.0RepeatSpectrin 4
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114293_40354693.0RepeatSpectrin 1
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114413_51854693.0RepeatSpectrin 2
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114528_63954693.0RepeatSpectrin 3
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114649_75254693.0RepeatSpectrin 4
TgeneMAP4K1chr19:39138547chr19:39108265ENST0000039685703117_27433822.0DomainProtein kinase
TgeneMAP4K1chr19:39138547chr19:39108265ENST0000059151703217_27433834.0DomainProtein kinase
TgeneMAP4K1chr19:39138547chr19:39108265ENST0000039685703123_3133822.0Nucleotide bindingATP
TgeneMAP4K1chr19:39138547chr19:39108265ENST0000059151703223_3133834.0Nucleotide bindingATP


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Fusion Gene Sequence for ACTN4-MAP4K1


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 ACTN4-MAP4K1


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
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+12112_2654.0912.0VCL
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+11412_2654.0693.0VCL


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+121108_12654.0912.0VCL
HgeneACTN4chr19:39138547chr19:39108265ENST00000252699+12140_6154.0912.0VCL
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+114108_12654.0693.0VCL
HgeneACTN4chr19:39138547chr19:39108265ENST00000390009+11440_6154.0693.0VCL


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 ACTN4-MAP4K1


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 ACTN4-MAP4K1


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