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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: 580

FusionGeneSummary for ACTN2_ACTN2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN2_ACTN2
Fusion gene ID: 580
HgeneTgene
Gene symbol

ACTN2

ACTN2

Gene ID

88

88

Gene nameactinin alpha 2actinin alpha 2
SynonymsCMD1AA|CMH23CMD1AA|CMH23
Cytomap

1q43

1q43

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal musclealpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal muscle
Modification date2018052220180522
UniProtAcc

P35609

P35609

Ensembl transtripts involved in fusion geneENST00000542672, ENST00000366578, 
ENST00000492634, ENST00000546208, 
ENST00000542672, ENST00000366578, 
ENST00000492634, ENST00000546208, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 1=4
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/4*10)=2.32192809488736
Context

PubMed: ACTN2 [Title/Abstract] AND ACTN2 [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
HgeneACTN2

GO:0030035

microspike assembly

12356918

HgeneACTN2

GO:0043268

positive regulation of potassium ion transport

17110593

HgeneACTN2

GO:0051289

protein homotetramerization

9501083

HgeneACTN2

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

17110593

TgeneACTN2

GO:0030035

microspike assembly

12356918

TgeneACTN2

GO:0043268

positive regulation of potassium ion transport

17110593

TgeneACTN2

GO:0051289

protein homotetramerization

9501083

TgeneACTN2

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

17110593


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
ChiTaRS3.1T12517ACTN2chr1

236918382

+ACTN2chr1

236926119

-
* 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
5CDS-intronENST00000542672ENST00000542672ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-3UTRENST00000542672ENST00000366578ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-intronENST00000542672ENST00000492634ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-3UTRENST00000542672ENST00000546208ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-intronENST00000366578ENST00000542672ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-3UTRENST00000366578ENST00000366578ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-intronENST00000366578ENST00000492634ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-3UTRENST00000366578ENST00000546208ACTN2chr1

236918382

+ACTN2chr1

236926119

-
intron-intronENST00000492634ENST00000542672ACTN2chr1

236918382

+ACTN2chr1

236926119

-
intron-3UTRENST00000492634ENST00000366578ACTN2chr1

236918382

+ACTN2chr1

236926119

-
intron-intronENST00000492634ENST00000492634ACTN2chr1

236918382

+ACTN2chr1

236926119

-
intron-3UTRENST00000492634ENST00000546208ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-intronENST00000546208ENST00000542672ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-3UTRENST00000546208ENST00000366578ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-intronENST00000546208ENST00000492634ACTN2chr1

236918382

+ACTN2chr1

236926119

-
5CDS-3UTRENST00000546208ENST00000546208ACTN2chr1

236918382

+ACTN2chr1

236926119

-

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FusionProtFeatures for ACTN2_ACTN2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTN2

P35609

ACTN2

P35609

F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein. F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein.

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 ACTN2_ACTN2


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 ACTN2_ACTN2


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 ACTN2_ACTN2


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 ACTN2_ACTN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTN2C2677338Cardiomyopathy, Dilated, 1AA4CTD_human;UNIPROT
TgeneACTN2C2677338Cardiomyopathy, Dilated, 1AA4CTD_human;UNIPROT