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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:ALDH2-GFAP (FusionGDB2 ID:HG217TG2670)

Fusion Gene Summary for ALDH2-GFAP

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH2-GFAP
Fusion gene ID: hg217tg2670
HgeneTgene
Gene symbol

ALDH2

GFAP

Gene ID

217

2670

Gene namealdehyde dehydrogenase 2 family memberglial fibrillary acidic protein
SynonymsALDH-E2|ALDHI|ALDMALXDRD
Cytomap('ALDH2')('GFAP')

12q24.12

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionaldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2glial fibrillary acidic protein
Modification date2020031320200327
UniProtAcc

P05091

P14136

Ensembl transtripts involved in fusion geneENST00000261733, ENST00000416293, 
Fusion gene scores* DoF score26 X 20 X 11=572025 X 63 X 5=7875
# samples 2151
** MAII scorelog2(21/5720*10)=-4.76755391399963
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(51/7875*10)=-3.94871077130315
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH2 [Title/Abstract] AND GFAP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALDH2(112247547)-GFAP(42983535), # 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
TgeneGFAP

GO:0045109

intermediate filament organization

15732097



check button Fusion gene information
* 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-DB-A75OALDH2chr12

112247547

+GFAPchr17

42983535

-


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Fusion Gene ORF analysis for ALDH2-GFAP

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
3UTR-3UTRENST00000261733ENST00000253408ALDH2chr12

112247547

+GFAPchr17

42983535

-
3UTR-intronENST00000261733ENST00000435360ALDH2chr12

112247547

+GFAPchr17

42983535

-
3UTR-intronENST00000261733ENST00000586793ALDH2chr12

112247547

+GFAPchr17

42983535

-
3UTR-intronENST00000261733ENST00000588735ALDH2chr12

112247547

+GFAPchr17

42983535

-
3UTR-intronENST00000261733ENST00000591327ALDH2chr12

112247547

+GFAPchr17

42983535

-
intron-3UTRENST00000416293ENST00000253408ALDH2chr12

112247547

+GFAPchr17

42983535

-
intron-intronENST00000416293ENST00000435360ALDH2chr12

112247547

+GFAPchr17

42983535

-
intron-intronENST00000416293ENST00000586793ALDH2chr12

112247547

+GFAPchr17

42983535

-
intron-intronENST00000416293ENST00000588735ALDH2chr12

112247547

+GFAPchr17

42983535

-
intron-intronENST00000416293ENST00000591327ALDH2chr12

112247547

+GFAPchr17

42983535

-

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 ALDH2-GFAP


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)


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Fusion Protein Features for ALDH2-GFAP


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/:112247547/:42983535)
- 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
ALDH2

P05091

GFAP

P14136

FUNCTION: GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.

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 ALDH2-GFAP


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 ALDH2-GFAP


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 ALDH2-GFAP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH2P05091DB00536GuanidineInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00536GuanidineInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00822DisulfiramInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00822DisulfiramInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00157NADHSmall moleculeApproved|Nutraceutical
HgeneALDH2P05091DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for ALDH2-GFAP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
HgeneALDH2C0085762Alcohol abuse7CTD_human;PSYGENET
HgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
HgeneALDH2C0393756Hangover from alcohol4PSYGENET
HgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
HgeneALDH2C0001956Alcohol Use Disorder2CTD_human
HgeneALDH2C0004096Asthma2CTD_human
HgeneALDH2C0005586Bipolar Disorder2PSYGENET
HgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneALDH2C0009402Colorectal Carcinoma1CTD_human
HgeneALDH2C0009404Colorectal Neoplasms1CTD_human
HgeneALDH2C0014859Esophageal Neoplasms1CTD_human
HgeneALDH2C0016382Flushing1CTD_human
HgeneALDH2C0016689Freckles1CTD_human
HgeneALDH2C0021364Male infertility1CTD_human
HgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH2C0025209Melanosis1CTD_human
HgeneALDH2C0025218Chloasma1CTD_human
HgeneALDH2C0028796Dermatitis, Occupational1CTD_human
HgeneALDH2C0032927Precancerous Conditions1CTD_human
HgeneALDH2C0042373Vascular Diseases1CTD_human
HgeneALDH2C0086457Industrial Dermatosis1CTD_human
HgeneALDH2C0236970Alcohol-Induced Disorders1CTD_human
HgeneALDH2C0242973Ventricular Dysfunction1CTD_human
HgeneALDH2C0282313Condition, Preneoplastic1CTD_human
HgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
HgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
HgeneALDH2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
HgeneALDH2C0546837Malignant neoplasm of esophagus1CTD_human
HgeneALDH2C0848676Subfertility, Male1CTD_human
HgeneALDH2C0917731Male sterility1CTD_human
HgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human
HgeneALDH2C3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC0270726Alexander Disease30CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0011570Mental Depression3PSYGENET
TgeneC0011581Depressive disorder3PSYGENET
TgeneC0027765nervous system disorder3CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0041696Unipolar Depression2PSYGENET
TgeneC1269683Major Depressive Disorder2PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0002736Amyotrophic Lateral Sclerosis1CTD_human
TgeneC0014544Epilepsy1CTD_human
TgeneC0017639Gliosis1CTD_human
TgeneC0020429Hyperalgesia1CTD_human
TgeneC0027873Neuromyelitis Optica1CTD_human
TgeneC0030567Parkinson Disease1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0037917Spina Bifida Cystica1CTD_human
TgeneC0040997Trigeminal Neuralgia1CTD_human
TgeneC0086237Epilepsy, Cryptogenic1CTD_human
TgeneC0236018Aura1CTD_human
TgeneC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
TgeneC0393786Trigeminal Neuralgia, Idiopathic1CTD_human
TgeneC0393787Secondary Trigeminal Neuralgia1CTD_human
TgeneC0458247Allodynia1CTD_human
TgeneC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
TgeneC0751111Awakening Epilepsy1CTD_human
TgeneC0751211Hyperalgesia, Primary1CTD_human
TgeneC0751212Hyperalgesia, Secondary1CTD_human
TgeneC0751213Tactile Allodynia1CTD_human
TgeneC0751214Hyperalgesia, Thermal1CTD_human
TgeneC0752347Lewy Body Disease1CTD_human
TgeneC0917813Spina Bifida, Open1CTD_human
TgeneC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgeneC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgeneC2936719Mechanical Allodynia1CTD_human
TgeneC3887640Astrocytosis1CTD_human
TgeneC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human