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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:SERPINA3-SERPINA3 (FusionGDB2 ID:80175)

Fusion Gene Summary for SERPINA3-SERPINA3

check button Fusion gene summary
Fusion gene informationFusion gene name: SERPINA3-SERPINA3
Fusion gene ID: 80175
HgeneTgene
Gene symbol

SERPINA3

SERPINA3

Gene ID

12

12

Gene nameserpin family A member 3serpin family A member 3
SynonymsAACT|ACT|GIG24|GIG25AACT|ACT|GIG24|GIG25
Cytomap

14q32.13

14q32.13

Type of geneprotein-codingprotein-coding
Descriptionalpha-1-antichymotrypsincell growth-inhibiting gene 24/25 proteingrowth-inhibiting protein 24growth-inhibiting protein 25serine (or cysteine) proteinase inhibitor, clade A, member 3serpin A3serpin peptidase inhibitor, clade A (alpha-1 antiproteinasealpha-1-antichymotrypsincell growth-inhibiting gene 24/25 proteingrowth-inhibiting protein 24growth-inhibiting protein 25serine (or cysteine) proteinase inhibitor, clade A, member 3serpin A3serpin peptidase inhibitor, clade A (alpha-1 antiproteinase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000393078, ENST00000485588, 
ENST00000393080, ENST00000467132, 
ENST00000482740, 
ENST00000393078, 
ENST00000485588, ENST00000393080, 
ENST00000467132, ENST00000482740, 
Fusion gene scores* DoF score10 X 12 X 5=6007 X 9 X 1=63
# samples 129
** MAII scorelog2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/63*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SERPINA3 [Title/Abstract] AND SERPINA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSERPINA3(95090096)-SERPINA3(95090209), # 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

check buttonFusion gene breakpoints across SERPINA3 (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 SERPINA3 (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
ChiTaRS5.0N/ABF924119SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
ChiTaRS5.0N/AAW994810SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
ChiTaRS5.0N/ABE813446SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
ChiTaRS5.0N/ABE813450SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
ChiTaRS5.0N/ABF326784SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+


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Fusion Gene ORF analysis for SERPINA3-SERPINA3

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
Frame-shiftENST00000393078ENST00000393078SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393078ENST00000485588SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393078ENST00000393080SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393078ENST00000467132SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393078ENST00000482740SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-3CDSENST00000485588ENST00000393078SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000485588ENST00000485588SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000485588ENST00000393080SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000485588ENST00000467132SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000485588ENST00000482740SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
Frame-shiftENST00000393080ENST00000393078SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393080ENST00000485588SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393080ENST00000393080SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393080ENST00000467132SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000393080ENST00000482740SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
Frame-shiftENST00000467132ENST00000393078SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000467132ENST00000485588SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000467132ENST00000393080SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000467132ENST00000467132SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-intronENST00000467132ENST00000482740SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-3CDSENST00000482740ENST00000393078SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000482740ENST00000485588SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000482740ENST00000393080SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000482740ENST00000467132SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
intron-intronENST00000482740ENST00000482740SERPINA3chr14

95081225

-SERPINA3chr14

95088754

-
5CDS-3UTRENST00000393078ENST00000393078SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-intronENST00000393078ENST00000485588SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393078ENST00000393080SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393078ENST00000467132SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393078ENST00000482740SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
intron-3UTRENST00000485588ENST00000393078SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
intron-intronENST00000485588ENST00000485588SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
intron-3UTRENST00000485588ENST00000393080SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
intron-3UTRENST00000485588ENST00000467132SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
intron-3UTRENST00000485588ENST00000482740SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393080ENST00000393078SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-intronENST00000393080ENST00000485588SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393080ENST00000393080SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393080ENST00000467132SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000393080ENST00000482740SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000467132ENST00000393078SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-intronENST00000467132ENST00000485588SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000467132ENST00000393080SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000467132ENST00000467132SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000467132ENST00000482740SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000482740ENST00000393078SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-intronENST00000482740ENST00000485588SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000482740ENST00000393080SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000482740ENST00000467132SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
5CDS-3UTRENST00000482740ENST00000482740SERPINA3chr14

95090096

-SERPINA3chr14

95090209

+
3UTR-3CDSENST00000393078ENST00000393078SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393078ENST00000485588SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393078ENST00000393080SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393078ENST00000467132SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393078ENST00000482740SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
intron-3CDSENST00000485588ENST00000393078SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
intron-intronENST00000485588ENST00000485588SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
intron-intronENST00000485588ENST00000393080SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
intron-intronENST00000485588ENST00000467132SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
intron-intronENST00000485588ENST00000482740SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-3CDSENST00000393080ENST00000393078SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393080ENST00000485588SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393080ENST00000393080SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393080ENST00000467132SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000393080ENST00000482740SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-3CDSENST00000467132ENST00000393078SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000467132ENST00000485588SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000467132ENST00000393080SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000467132ENST00000467132SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000467132ENST00000482740SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-3CDSENST00000482740ENST00000393078SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000482740ENST00000485588SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000482740ENST00000393080SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000482740ENST00000467132SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+
3UTR-intronENST00000482740ENST00000482740SERPINA3chr14

95090209

-SERPINA3chr14

95090096

+

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 SERPINA3-SERPINA3


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 SERPINA3-SERPINA3


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
..
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: 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.

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 SERPINA3-SERPINA3


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 SERPINA3-SERPINA3


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 SERPINA3-SERPINA3


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 SERPINA3-SERPINA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSERPINA3C0023794Lipoidosis3CTD_human
HgeneSERPINA3C0033578Prostatic Neoplasms1CTD_human
HgeneSERPINA3C0376358Malignant neoplasm of prostate1CTD_human
TgeneSERPINA3C0023794Lipoidosis3CTD_human
TgeneSERPINA3C0033578Prostatic Neoplasms1CTD_human
TgeneSERPINA3C0376358Malignant neoplasm of prostate1CTD_human