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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:ATP5A1-HAUS1 (FusionGDB2 ID:7996)

Fusion Gene Summary for ATP5A1-HAUS1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP5A1-HAUS1
Fusion gene ID: 7996
HgeneTgene
Gene symbol

ATP5A1

HAUS1

Gene ID

498

115106

Gene nameATP synthase F1 subunit alphaHAUS augmin like complex subunit 1
SynonymsATP5A|ATP5A1|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MOM2|OMR|ORM|hATP1CCDC5|HEI-C|HEIC|HsT1461
Cytomap

18q21.1

18q21.1

Type of geneprotein-codingprotein-coding
DescriptionATP synthase subunit alpha, mitochondrialATP synthase alpha chain, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscleATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cHAUS augmin-like complex subunit 1coiled-coil domain containing 5 (spindle associated)coiled-coil domain-containing protein 5enhancer of invasion-cluster
Modification date2020031320200327
UniProtAcc.

Q96CS2

Ensembl transtripts involved in fusion geneENST00000282050, ENST00000593152, 
ENST00000590665, ENST00000398752, 
ENST00000591267, 		ENST00000282058, 
ENST00000585518, ENST00000588704, 
Fusion gene scores* DoF score11 X 12 X 3=3962 X 4 X 2=16
# samples 123
** MAII scorelog2(12/396*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/16*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP5A1 [Title/Abstract] AND HAUS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP5A1(43684103)-HAUS1(43698147), # samples:3
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
HgeneATP5A1

GO:0042776

mitochondrial ATP synthesis coupled proton transport

12110673


check buttonFusion gene breakpoints across ATP5A1 (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 HAUS1 (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-CM-5348-01AATP5A1chr18

43684103

-HAUS1chr18

43698147

+
ChimerDB4COADTCGA-CM-5348ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
ChimerDB4COADTCGA-CM-5348-01AATP5A1chr18

43684103

-HAUS1chr18

43698147

+
ChimerDB4COADTCGA-CM-5348-01AATP5A1chr18

43684103

-HAUS1chr18

43699892

+
ChimerDB4COADTCGA-CM-5348-01AATP5A1chr18

43684103

-HAUS1chr18

43698147

+


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Fusion Gene ORF analysis for ATP5A1-HAUS1

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
5UTR-3CDSENST00000282050ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
5UTR-intronENST00000282050ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
5UTR-3UTRENST00000282050ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3CDSENST00000593152ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-intronENST00000593152ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3UTRENST00000593152ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3CDSENST00000590665ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-intronENST00000590665ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3UTRENST00000590665ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3CDSENST00000398752ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-intronENST00000398752ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3UTRENST00000398752ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3CDSENST00000591267ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-intronENST00000591267ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
intron-3UTRENST00000591267ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43698147

+
5UTR-3CDSENST00000282050ENST00000282058ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
5UTR-intronENST00000282050ENST00000585518ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
5UTR-3UTRENST00000282050ENST00000588704ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3CDSENST00000593152ENST00000282058ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-intronENST00000593152ENST00000585518ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3UTRENST00000593152ENST00000588704ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3CDSENST00000590665ENST00000282058ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-intronENST00000590665ENST00000585518ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3UTRENST00000590665ENST00000588704ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3CDSENST00000398752ENST00000282058ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-intronENST00000398752ENST00000585518ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3UTRENST00000398752ENST00000588704ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3CDSENST00000591267ENST00000282058ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-intronENST00000591267ENST00000585518ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
intron-3UTRENST00000591267ENST00000588704ATP5A1chr18

43684102

-HAUS1chr18

43699891

+
5UTR-3CDSENST00000282050ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
5UTR-intronENST00000282050ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
5UTR-3UTRENST00000282050ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3CDSENST00000593152ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-intronENST00000593152ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3UTRENST00000593152ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3CDSENST00000590665ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-intronENST00000590665ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3UTRENST00000590665ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3CDSENST00000398752ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-intronENST00000398752ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3UTRENST00000398752ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3CDSENST00000591267ENST00000282058ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-intronENST00000591267ENST00000585518ATP5A1chr18

43684103

-HAUS1chr18

43699892

+
intron-3UTRENST00000591267ENST00000588704ATP5A1chr18

43684103

-HAUS1chr18

43699892

+

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 ATP5A1-HAUS1


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)
ATP5A1chr1843684102-HAUS1chr1843699891+8.42E-080.9999999
ATP5A1chr1843684102-HAUS1chr1843699891+8.42E-080.9999999
ATP5A1chr1843684102-HAUS1chr1843698146+8.51E-101
ATP5A1chr1843684102-HAUS1chr1843699891+8.42E-080.9999999
ATP5A1chr1843684102-HAUS1chr1843699891+8.42E-080.9999999
ATP5A1chr1843684102-HAUS1chr1843698146+8.51E-101

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 ATP5A1-HAUS1


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
.HAUS1

Q96CS2

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: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. {ECO:0000269|PubMed:15082789, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.

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 ATP5A1-HAUS1


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 ATP5A1-HAUS1


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 ATP5A1-HAUS1


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 ATP5A1-HAUS1


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