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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:AASDH-AASDH (FusionGDB2 ID:107)

Fusion Gene Summary for AASDH-AASDH

check button Fusion gene summary
Fusion gene informationFusion gene name: AASDH-AASDH
Fusion gene ID: 107
HgeneTgene
Gene symbol

AASDH

AASDH

Gene ID

132949

132949

Gene nameaminoadipate-semialdehyde dehydrogenaseaminoadipate-semialdehyde dehydrogenase
SynonymsACSF4|LYS2|NRPS1098|NRPS998ACSF4|LYS2|NRPS1098|NRPS998
Cytomap

4q12

4q12

Type of geneprotein-codingprotein-coding
Descriptionbeta-alanine-activating enzyme2-aminoadipic 6-semialdehyde dehydrogenaseacyl-CoA synthetase family member 4non-ribosomal peptide synthetase 1098non-ribosomal peptide synthetase 998beta-alanine-activating enzyme2-aminoadipic 6-semialdehyde dehydrogenaseacyl-CoA synthetase family member 4non-ribosomal peptide synthetase 1098non-ribosomal peptide synthetase 998
Modification date2020031320200313
UniProtAcc

Q4L235

Q9NRN7

Ensembl transtripts involved in fusion geneENST00000205214, ENST00000434343, 
ENST00000451613, ENST00000502617, 
ENST00000510762, ENST00000513376, 
ENST00000602986, 		ENST00000205214, 
ENST00000434343, ENST00000451613, 
ENST00000502617, ENST00000510762, 
ENST00000513376, ENST00000602986, 
Fusion gene scores* DoF score6 X 7 X 4=1681 X 1 X 1=1
# samples 71
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

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

Most frequent breakpointAASDH(57252172)-AASDH(57249807), # 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

check buttonFusion gene breakpoints across AASDH (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 AASDH (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/AAA731353AASDHchr4

57252172

+AASDHchr4

57249807

+


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Fusion Gene ORF analysis for AASDH-AASDH

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-intronENST00000205214ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000205214ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000205214ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000205214ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000205214ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000205214ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000205214ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000434343ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000451613ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000502617ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000510762ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000513376ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000205214AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000434343AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000451613AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000502617AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000510762AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000513376AASDHchr4

57252172

+AASDHchr4

57249807

+
intron-intronENST00000602986ENST00000602986AASDHchr4

57252172

+AASDHchr4

57249807

+

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 AASDH-AASDH


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 AASDH-AASDH


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/:57252172/:57249807)
- 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
AASDH

Q4L235

AASDH

Q9NRN7

FUNCTION: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-transcriptional modification of an RNA. {ECO:0000250|UniProtKB:Q80WC9}.FUNCTION: Catalyzes the post-translational modification of target proteins by phosphopantetheine. Can transfer the 4'-phosphopantetheine moiety from coenzyme A, regardless of whether the CoA is presented in the free thiol form or as an acetyl thioester, to a serine residue of a broad range of acceptors including the acyl carrier domain of FASN. {ECO:0000269|PubMed:11286508, ECO:0000269|PubMed:12815048, ECO:0000269|PubMed:18022563}.

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 AASDH-AASDH


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 AASDH-AASDH


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 AASDH-AASDH


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 AASDH-AASDH


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