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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:ANK3-ACTA2 (FusionGDB2 ID:4471)

Fusion Gene Summary for ANK3-ACTA2

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK3-ACTA2
Fusion gene ID: 4471
HgeneTgene
Gene symbol

ANK3

ACTA2

Gene ID

288

59

Gene nameankyrin 3actin alpha 2, smooth muscle
SynonymsANKYRIN-G|MRT37ACTSA
Cytomap

10q21.2

10q23.31

Type of geneprotein-codingprotein-coding
Descriptionankyrin-3ankyrin 3, node of Ranvier (ankyrin G)actin, aortic smooth muscleactin, alpha 2, smooth muscle, aortaalpha-cardiac actincell growth-inhibiting gene 46 protein
Modification date2020031320200313
UniProtAcc.

P62736

Ensembl transtripts involved in fusion geneENST00000280772, ENST00000373827, 
ENST00000355288, ENST00000503366, 
ENST00000510382, ENST00000460468, 
ENST00000224784, ENST00000458208, 
ENST00000480297, 
Fusion gene scores* DoF score28 X 22 X 9=55449 X 11 X 5=495
# samples 2912
** MAII scorelog2(29/5544*10)=-4.25680245212228
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANK3 [Title/Abstract] AND ACTA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANK3(62374944)-ACTA2(90697999), # 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

check buttonFusion gene breakpoints across ANK3 (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 ACTA2 (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
ChimerDB4COADTCGA-D5-6536-01AANK3chr10

62374944

-ACTA2chr10

90697999

-
ChimerDB4COADTCGA-D5-6536-01AANK3chr10

62374944

-ACTA2chr10

90697999

-


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Fusion Gene ORF analysis for ANK3-ACTA2

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-3CDSENST00000280772ENST00000224784ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000280772ENST00000458208ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-intronENST00000280772ENST00000480297ANK3chr10

62374944

-ACTA2chr10

90697999

-
Frame-shiftENST00000373827ENST00000224784ANK3chr10

62374944

-ACTA2chr10

90697999

-
Frame-shiftENST00000373827ENST00000458208ANK3chr10

62374944

-ACTA2chr10

90697999

-
5CDS-intronENST00000373827ENST00000480297ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000355288ENST00000224784ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000355288ENST00000458208ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-intronENST00000355288ENST00000480297ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000503366ENST00000224784ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000503366ENST00000458208ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-intronENST00000503366ENST00000480297ANK3chr10

62374944

-ACTA2chr10

90697999

-
5UTR-3CDSENST00000510382ENST00000224784ANK3chr10

62374944

-ACTA2chr10

90697999

-
5UTR-3CDSENST00000510382ENST00000458208ANK3chr10

62374944

-ACTA2chr10

90697999

-
5UTR-intronENST00000510382ENST00000480297ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000460468ENST00000224784ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-3CDSENST00000460468ENST00000458208ANK3chr10

62374944

-ACTA2chr10

90697999

-
intron-intronENST00000460468ENST00000480297ANK3chr10

62374944

-ACTA2chr10

90697999

-

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 ANK3-ACTA2


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 ANK3-ACTA2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ACTA2

P62736

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

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 ANK3-ACTA2


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 ANK3-ACTA2


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 ANK3-ACTA2


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 ANK3-ACTA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK3C0005586Bipolar Disorder8CTD_human;PSYGENET
HgeneANK3C0005587Depression, Bipolar3CTD_human
HgeneANK3C0024713Manic Disorder3CTD_human
HgeneANK3C0036341Schizophrenia3PSYGENET
HgeneANK3C0338831Manic3CTD_human
HgeneANK3C0033975Psychotic Disorders2PSYGENET
HgeneANK3C0525045Mood Disorders2PSYGENET
HgeneANK3C0015923Fetal Alcohol Syndrome1CTD_human
HgeneANK3C0024121Lung Neoplasms1CTD_human
HgeneANK3C0033300Progeria1CTD_human
HgeneANK3C0038220Status Epilepticus1CTD_human
HgeneANK3C0178417Anhedonia1PSYGENET
HgeneANK3C0242379Malignant neoplasm of lung1CTD_human
HgeneANK3C0270823Petit mal status1CTD_human
HgeneANK3C0311335Grand Mal Status Epilepticus1CTD_human
HgeneANK3C0349204Nonorganic psychosis1PSYGENET
HgeneANK3C0393734Complex Partial Status Epilepticus1CTD_human
HgeneANK3C0751522Status Epilepticus, Subclinical1CTD_human
HgeneANK3C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneANK3C0751524Simple Partial Status Epilepticus1CTD_human
HgeneANK3C0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
HgeneANK3C2985290Fetal Alcohol Spectrum Disorders1CTD_human
HgeneANK3C3146244Alcohol Related Birth Defect1CTD_human
HgeneANK3C3661483Partial Fetal Alcohol Syndrome1CTD_human
HgeneANK3C3809672MENTAL RETARDATION, AUTOSOMAL RECESSIVE 371CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneACTA2C4707243Familial thoracic aortic aneurysm and aortic dissection7CLINGEN;GENOMICS_ENGLAND
TgeneACTA2C2673186Aortic Aneurysm, Familial Thoracic 65CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTA2C3279690MOYAMOYA DISEASE 54CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTA2C0023890Liver Cirrhosis3CTD_human
TgeneACTA2C0239946Fibrosis, Liver3CTD_human
TgeneACTA2C3151201MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME3GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneACTA2C0023893Liver Cirrhosis, Experimental2CTD_human
TgeneACTA2C0026654Moyamoya Disease2GENOMICS_ENGLAND;ORPHANET
TgeneACTA2C2931384Moyamoya disease 12ORPHANET
TgeneACTA2C0005398Cholestasis, Extrahepatic1CTD_human
TgeneACTA2C0006142Malignant neoplasm of breast1CTD_human
TgeneACTA2C0007102Malignant tumor of colon1CTD_human
TgeneACTA2C0009375Colonic Neoplasms1CTD_human
TgeneACTA2C0014175Endometriosis1CTD_human
TgeneACTA2C0015934Fetal Growth Retardation1CTD_human
TgeneACTA2C0017668Focal glomerulosclerosis1CTD_human
TgeneACTA2C0019189Hepatitis, Chronic1CTD_human
TgeneACTA2C0022116Ischemia1CTD_human
TgeneACTA2C0022658Kidney Diseases1CTD_human
TgeneACTA2C0023895Liver diseases1CTD_human
TgeneACTA2C0027051Myocardial Infarction1CTD_human
TgeneACTA2C0027719Nephrosclerosis1CTD_human
TgeneACTA2C0034069Pulmonary Fibrosis1CTD_human
TgeneACTA2C0036421Systemic Scleroderma1CTD_human
TgeneACTA2C0041956Ureteral obstruction1CTD_human
TgeneACTA2C0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneACTA2C0086565Liver Dysfunction1CTD_human
TgeneACTA2C0149519Chronic Persistent Hepatitis1CTD_human
TgeneACTA2C0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneACTA2C0269102Endometrioma1CTD_human
TgeneACTA2C0340630Aortic Aneurysm, Thoracoabdominal1CTD_human
TgeneACTA2C0520463Chronic active hepatitis1CTD_human
TgeneACTA2C0524611Cryptogenic Chronic Hepatitis1CTD_human
TgeneACTA2C0678222Breast Carcinoma1CTD_human
TgeneACTA2C1257931Mammary Neoplasms, Human1CTD_human
TgeneACTA2C1458155Mammary Neoplasms1CTD_human
TgeneACTA2C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
TgeneACTA2C1876165Copper-Overload Cirrhosis1CTD_human
TgeneACTA2C4704874Mammary Carcinoma, Human1CTD_human
TgeneACTA2C4721507Alveolitis, Fibrosing1CTD_human