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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:CSAD-ACE (FusionGDB2 ID:19634)

Fusion Gene Summary for CSAD-ACE

check button Fusion gene summary
Fusion gene informationFusion gene name: CSAD-ACE
Fusion gene ID: 19634
HgeneTgene
Gene symbol

CSAD

ACE

Gene ID

51380

1636

Gene namecysteine sulfinic acid decarboxylaseangiotensin I converting enzyme
SynonymsCSD|PCAPACE1|CD143|DCP|DCP1
Cytomap

12q13.13

17q23.3

Type of geneprotein-codingprotein-coding
Descriptioncysteine sulfinic acid decarboxylaseP-selectin cytoplasmic tail-associated proteinaspartate 1-decarboxylasecysteine sulfinic acid decarboxylase-related proteincysteine-sulfinate decarboxylasesulfinoalanine decarboxylaseangiotensin-converting enzymeCD143 antigenangiotensin I converting enzyme (peptidyl-dipeptidase A) 1angiotensin converting enzyme, somatic isoformcarboxycathepsindipeptidyl carboxypeptidase 1dipeptidyl carboxypeptidase Ikininase IIpeptidase P
Modification date2020031320200329
UniProtAcc

Q9Y600

CHRNE

Ensembl transtripts involved in fusion geneENST00000267085, ENST00000379843, 
ENST00000379846, ENST00000444623, 
ENST00000453446, ENST00000491654, 
ENST00000542115, 		ENST00000290863, 
ENST00000290866, ENST00000413513, 
ENST00000421982, ENST00000428043, 
ENST00000490216, ENST00000538928, 
ENST00000577647, ENST00000584529, 
Fusion gene scores* DoF score8 X 7 X 5=2808 X 10 X 8=640
# samples 811
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/640*10)=-2.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CSAD [Title/Abstract] AND ACE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCSAD(53574351)-ACE(61566009), # 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
TgeneACE

GO:0042447

hormone catabolic process

7876104

TgeneACE

GO:0043171

peptide catabolic process

4322742|15283675

TgeneACE

GO:0050435

amyloid-beta metabolic process

18495113|19773553

TgeneACE

GO:0050482

arachidonic acid secretion

17077303

TgeneACE

GO:0060177

regulation of angiotensin metabolic process

1851160


check buttonFusion gene breakpoints across CSAD (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 ACE (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
ChimerDB4Non-CancerTCGA-BR-7851-11ACSADchr12

53574351

-ACEchr17

61566009

+


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Fusion Gene ORF analysis for CSAD-ACE

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-intronENST00000267085ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000267085ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379843ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
5UTR-intronENST00000379846ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000444623ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000453446ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000491654ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000290863CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000290866CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000413513CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000421982CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000428043CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000490216CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000538928CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000577647CSADchr12

53574351

-ACEchr17

61566009

+
intron-intronENST00000542115ENST00000584529CSADchr12

53574351

-ACEchr17

61566009

+

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 CSAD-ACE


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)
CSADchr1253574350-ACEchr1761566008+0.0096482580.99035174
CSADchr1253574350-ACEchr1761566008+0.0096482580.99035174

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.
genomic feature of top 1%

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Fusion Protein Features for CSAD-ACE


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/:53574351/:61566009)
- 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
CSAD

Q9Y600

ACE

CHRNE

FUNCTION: Catalyzes the decarboxylation of L-aspartate, 3-sulfino-L-alanine (cysteine sulfinic acid), and L-cysteate to beta-alanine, hypotaurine and taurine, respectively. The preferred substrate is 3-sulfino-L-alanine. Does not exhibit any decarboxylation activity toward glutamate. {ECO:0000250|UniProtKB:Q9DBE0}.493

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 CSAD-ACE


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 CSAD-ACE


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 CSAD-ACE


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 CSAD-ACE


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