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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ALDH5A1-DCDC2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ALDH5A1-DCDC2
FusionPDB ID: 3916
FusionGDB2.0 ID: 3916
HgeneTgene
Gene symbol

ALDH5A1

DCDC2

Gene ID

7915

51473

Gene namealdehyde dehydrogenase 5 family member A1doublecortin domain containing 2
SynonymsSSADH|SSDHDCDC2A|DFNB66|NPHP19|NSC|RU2|RU2S
Cytomap

6p22.3

6p22.3

Type of geneprotein-codingprotein-coding
Descriptionsuccinate-semialdehyde dehydrogenase, mitochondrialNAD(+)-dependent succinic semialdehyde dehydrogenasemitochondrial succinate semialdehyde dehydrogenasedoublecortin domain-containing protein 2
Modification date2020031320200313
UniProtAcc

P51649

Q9UHG0

Ensembl transtripts involved in fusion geneENST idsENST00000348925, ENST00000357578, 
ENST00000491546, ENST00000546278, 
ENST00000378450, ENST00000378454, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=814 X 8 X 11=1232
# samples 216
** MAII scorelog2(2/8*10)=1.32192809488736log2(16/1232*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ALDH5A1 [Title/Abstract] AND DCDC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ALDH5A1(24495578)-DCDC2(24178860), # samples:1
Anticipated loss of major functional domain due to fusion event.ALDH5A1-DCDC2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ALDH5A1-DCDC2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ALDH5A1-DCDC2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ALDH5A1-DCDC2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneALDH5A1

GO:0009450

gamma-aminobutyric acid catabolic process

9683595


check buttonFusion gene breakpoints across ALDH5A1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DCDC2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LGGTCGA-DU-7015ALDH5A1chr6

24495578

+DCDC2chr6

24178860

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000546278ALDH5A1chr624495578+ENST00000378454DCDC2chr624178860-35391577564185
ENST00000546278ALDH5A1chr624495578+ENST00000378450DCDC2chr624178860-35391577564185
ENST00000357578ALDH5A1chr624495578+ENST00000378454DCDC2chr624178860-38814997906299
ENST00000357578ALDH5A1chr624495578+ENST00000378450DCDC2chr624178860-38814997906299
ENST00000491546ALDH5A1chr624495578+ENST00000378454DCDC2chr624178860-386648470891273
ENST00000491546ALDH5A1chr624495578+ENST00000378450DCDC2chr624178860-386648470891273
ENST00000348925ALDH5A1chr624495578+ENST00000378454DCDC2chr624178860-376438228789253
ENST00000348925ALDH5A1chr624495578+ENST00000378450DCDC2chr624178860-376438228789253

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
ENST00000546278ENST00000378454ALDH5A1chr624495578+DCDC2chr624178860-0.0004869790.99951303
ENST00000546278ENST00000378450ALDH5A1chr624495578+DCDC2chr624178860-0.0004869790.99951303
ENST00000357578ENST00000378454ALDH5A1chr624495578+DCDC2chr624178860-0.0010987980.9989011
ENST00000357578ENST00000378450ALDH5A1chr624495578+DCDC2chr624178860-0.0010987980.9989011
ENST00000491546ENST00000378454ALDH5A1chr624495578+DCDC2chr624178860-0.0010863830.99891365
ENST00000491546ENST00000378450ALDH5A1chr624495578+DCDC2chr624178860-0.0010863830.99891365
ENST00000348925ENST00000378454ALDH5A1chr624495578+DCDC2chr624178860-0.0011170570.99888295
ENST00000348925ENST00000378450ALDH5A1chr624495578+DCDC2chr624178860-0.0011170570.99888295

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>3916_3916_1_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000348925_DCDC2_chr6_24178860_ENST00000378450_length(amino acids)=253AA_BP=118
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMV
ADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPAR

--------------------------------------------------------------

>3916_3916_2_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000348925_DCDC2_chr6_24178860_ENST00000378454_length(amino acids)=253AA_BP=118
MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMV
ADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPAR

--------------------------------------------------------------

>3916_3916_3_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000357578_DCDC2_chr6_24178860_ENST00000378450_length(amino acids)=299AA_BP=164
MQPSASSHAFPARPRRLLAPLASPRPLRSRARAPACLFPVAVVARAMATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQL
RCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKAN
KDAEQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDP

--------------------------------------------------------------

>3916_3916_4_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000357578_DCDC2_chr6_24178860_ENST00000378454_length(amino acids)=299AA_BP=164
MQPSASSHAFPARPRRLLAPLASPRPLRSRARAPACLFPVAVVARAMATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQL
RCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKAN
KDAEQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDP

--------------------------------------------------------------

>3916_3916_5_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000491546_DCDC2_chr6_24178860_ENST00000378450_length(amino acids)=273AA_BP=138
MRSRARAPACLFPVAVVARAMATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWL
PAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREATD
APEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKDYA

--------------------------------------------------------------

>3916_3916_6_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000491546_DCDC2_chr6_24178860_ENST00000378454_length(amino acids)=273AA_BP=138
MRSRARAPACLFPVAVVARAMATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWL
PAAATFPVQDPASGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREATD
APEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKDYA

--------------------------------------------------------------

>3916_3916_7_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000546278_DCDC2_chr6_24178860_ENST00000378450_length(amino acids)=185AA_BP=50
MQPSASSHAFPARPRGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREA
TDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKD

--------------------------------------------------------------

>3916_3916_8_ALDH5A1-DCDC2_ALDH5A1_chr6_24495578_ENST00000546278_DCDC2_chr6_24178860_ENST00000378454_length(amino acids)=185AA_BP=50
MQPSASSHAFPARPRGAALGMVADCGVREARAAVRAAYEAFCRWREVSAKRPAEIVDEEEDGEKANKDAEQKEDFSGMNGDLEEEGGREA
TDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVNNELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKD

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr6:24495578/chr6:24178860)
- 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
ALDH5A1

P51649

DCDC2

Q9UHG0

FUNCTION: Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). {ECO:0000269|PubMed:19300440}.FUNCTION: Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779). {ECO:0000250|UniProtKB:D3ZR10, ECO:0000269|PubMed:25557784, ECO:0000269|PubMed:25601850, ECO:0000269|PubMed:27319779}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDCDC2chr6:24495578chr6:24178860ENST0000037845003139_22194.0230.0DomainDoublecortin 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000348925+111202_204118.0549.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000348925+111228_231118.0549.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000348925+111284_289118.0549.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000348925+111438_440118.0549.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000357578+110202_204118.0536.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000357578+110228_231118.0536.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000357578+110284_289118.0536.0Nucleotide bindingNAD
HgeneALDH5A1chr6:24495578chr6:24178860ENST00000357578+110438_440118.0536.0Nucleotide bindingNAD
TgeneDCDC2chr6:24495578chr6:24178860ENST000003784500317_10094.0230.0DomainDoublecortin 1
TgeneDCDC2chr6:24495578chr6:24178860ENST00000378454710139_221341.0477.0DomainDoublecortin 2
TgeneDCDC2chr6:24495578chr6:24178860ENST0000037845471017_100341.0477.0DomainDoublecortin 1


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ALDH5A1
DCDC2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ALDH5A1-DCDC2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ALDH5A1-DCDC2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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