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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:SERPINA4-SLC44A4 (FusionGDB2 ID:80748)

Fusion Gene Summary for SERPINA4-SLC44A4

check button Fusion gene summary
Fusion gene informationFusion gene name: SERPINA4-SLC44A4
Fusion gene ID: 80748
HgeneTgene
Gene symbol

SERPINA4

SLC44A4

Gene ID

5267

80736

Gene nameserpin family A member 4solute carrier family 44 member 4
SynonymsKAL|KLST|KST|PI-4|PI4|kallistatinC6orf29|CTL4|DFNA72|NG22|TPPT|hTPPT1
Cytomap

14q32.13

6p21.33

Type of geneprotein-codingprotein-coding
Descriptionkallistatinkallikrein inhibitorpeptidase inhibitor 4protease inhibitor 4 (kallistatin)serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4serpin A4serpin peptidase inhibitor, clade A (alpha-1 antiproteincholine transporter-like protein 4testicular tissue protein Li 48thiamine pyrophosphate transporterthiamine pyrophosphate transporter 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000298841, ENST00000555095, 
ENST00000557004, 
ENST00000229729, 
ENST00000375562, ENST00000544672, 
ENST00000366281, ENST00000383379, 
ENST00000415517, ENST00000417894, 
ENST00000425238, ENST00000442152, 
ENST00000453831, ENST00000463111, 
ENST00000465707, ENST00000469478, 
ENST00000492911, ENST00000495181, 
ENST00000495620, ENST00000497745, 
ENST00000546461, ENST00000547288, 
ENST00000547493, ENST00000547684, 
ENST00000548188, ENST00000549663, 
ENST00000549677, ENST00000550401, 
ENST00000550821, ENST00000551168, 
ENST00000553121, ENST00000553147, 
Fusion gene scores* DoF score1 X 1 X 1=114 X 32 X 11=4928
# samples 127
** MAII scorelog2(1/1*10)=3.32192809488736log2(27/4928*10)=-4.18997094364407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SERPINA4 [Title/Abstract] AND SLC44A4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSERPINA4(95027831)-SLC44A4(31833903), # samples:1
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
TgeneSLC44A4

GO:0030974

thiamine pyrophosphate transmembrane transport

24379411


check buttonFusion gene breakpoints across SERPINA4 (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 SLC44A4 (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
ChimerDB4STADTCGA-BR-A4PDSERPINA4chr14

95027831

+SLC44A4chr6

31833903

-


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Fusion Gene ORF analysis for SERPINA4-SLC44A4

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-3CDSENST00000298841ENST00000229729SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000298841ENST00000375562SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000298841ENST00000544672SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000555095ENST00000229729SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000555095ENST00000375562SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000555095ENST00000544672SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000557004ENST00000229729SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000557004ENST00000375562SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-3CDSENST00000557004ENST00000544672SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000366281SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000383379SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000415517SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000417894SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000425238SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000442152SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000453831SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000463111SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000465707SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000469478SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000492911SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000495181SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000495620SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000497745SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000546461SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000547288SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000547493SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000547684SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000548188SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000549663SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000549677SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000550401SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000550821SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000551168SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000553121SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000298841ENST00000553147SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000366281SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000383379SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000415517SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000417894SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000425238SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000442152SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000453831SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000463111SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000465707SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000469478SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000492911SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000495181SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000495620SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000497745SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000546461SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000547288SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000547493SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000547684SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000548188SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000549663SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000549677SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000550401SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000550821SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000551168SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000553121SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000555095ENST00000553147SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000366281SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000383379SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000415517SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000417894SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000425238SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000442152SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000453831SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000463111SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000465707SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000469478SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000492911SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000495181SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000495620SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000497745SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000546461SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000547288SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000547493SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000547684SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000548188SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000549663SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000549677SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000550401SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000550821SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000551168SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000553121SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-
5UTR-intronENST00000557004ENST00000553147SERPINA4chr14

95027831

+SLC44A4chr6

31833903

-

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 SERPINA4-SLC44A4


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 SERPINA4-SLC44A4


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:95027831/:31833903)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 SERPINA4-SLC44A4


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 SERPINA4-SLC44A4


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 SERPINA4-SLC44A4


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 SERPINA4-SLC44A4


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