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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: 539

FusionGeneSummary for ACTC1_NDUFA1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTC1_NDUFA1
Fusion gene ID: 539
HgeneTgene
Gene symbol

ACTC1

NDUFA1

Gene ID

70

4694

Gene nameactin, alpha, cardiac muscle 1NADH:ubiquinone oxidoreductase subunit A1
SynonymsACTC|ASD5|CMD1R|CMH11|LVNC4CI-MWFE|MWFE|ZNF183
Cytomap

15q14

Xq24

Type of geneprotein-codingprotein-coding
Descriptionactin, alpha cardiac muscle 1NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDaNADH-ubiquinone oxidoreductase MWFE subunitNADH:ubiquinone oxidoreductase (complex 1)complex I MWFE subunittype I dehydrogenase
Modification date2018051920180522
UniProtAcc

P68032

O15239

Ensembl transtripts involved in fusion geneENST00000290378, ENST00000557860, 
ENST00000371437, 
Fusion gene scores* DoF score3 X 3 X 1=93 X 3 X 2=18
# samples 33
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACTC1 [Title/Abstract] AND NDUFA1 [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
HgeneACTC1

GO:0030048

actin filament-based movement

16611632


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
ChiTaRS3.1AJ709010ACTC1chr15

35085626

-NDUFA1chrX

119005921

+
* 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
intron-3CDSENST00000290378ENST00000371437ACTC1chr15

35085626

-NDUFA1chrX

119005921

+
intron-3CDSENST00000557860ENST00000371437ACTC1chr15

35085626

-NDUFA1chrX

119005921

+

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FusionProtFeatures for ACTC1_NDUFA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTC1

P68032

NDUFA1

O15239

Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells. Accessory subunit of the mitochondrial membranerespiratory chain NADH dehydrogenase (Complex I), that is believednot to be involved in catalysis. Complex I functions in thetransfer of electrons from NADH to the respiratory chain. Theimmediate electron acceptor for the enzyme is believed to beubiquinone. {ECO:0000269|PubMed:27626371}.

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 ACTC1_NDUFA1


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 ACTC1_NDUFA1


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 ACTC1_NDUFA1


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 ACTC1_NDUFA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTC1C2677506Cardiomyopathy, Familial Hypertrophic, 114CTD_human;UNIPROT
HgeneACTC1C0032927Precancerous Conditions1CTD_human
HgeneACTC1C0034951Refractive Errors1CTD_human
HgeneACTC1C0038356Stomach Neoplasms1CTD_human
HgeneACTC1C2748552Atrial Septal Defect 51CTD_human;UNIPROT
HgeneACTC1C3150681CARDIOMYOPATHY, DILATED, 1R1UNIPROT
TgeneNDUFA1C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY1CTD_human;UNIPROT