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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1473

FusionGeneSummary for ALDH2_ATXN2

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH2_ATXN2
Fusion gene ID: 1473
HgeneTgene
Gene symbol

ALDH2

ATXN2

Gene ID

217

6311

Gene namealdehyde dehydrogenase 2 family memberataxin 2
SynonymsALDH-E2|ALDHI|ALDMATX2|SCA2|TNRC13
Cytomap

12q24.12

12q24.12

Type of geneprotein-codingprotein-coding
Descriptionaldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)liver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2ataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 protein
Modification date2018052720180523
UniProtAcc

P05091

Q99700

Ensembl transtripts involved in fusion geneENST00000416293, ENST00000261733, 
ENST00000389153, ENST00000608853, 
ENST00000377617, ENST00000550104, 
ENST00000542287, ENST00000535949, 
ENST00000549455, 
Fusion gene scores* DoF score7 X 6 X 5=21010 X 10 X 5=500
# samples 713
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/500*10)=-1.94341647163363
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH2 [Title/Abstract] AND ATXN2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-29-1777-01AALDH2chr12

112204900

+ATXN2chr12

111908546

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000416293ENST00000389153ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000416293ENST00000608853ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000416293ENST00000377617ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000416293ENST00000550104ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000416293ENST00000542287ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000416293ENST00000535949ALDH2chr12

112204900

+ATXN2chr12

111908546

-
5CDS-intronENST00000416293ENST00000549455ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000261733ENST00000389153ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000261733ENST00000608853ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000261733ENST00000377617ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000261733ENST00000550104ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000261733ENST00000542287ALDH2chr12

112204900

+ATXN2chr12

111908546

-
Frame-shitENST00000261733ENST00000535949ALDH2chr12

112204900

+ATXN2chr12

111908546

-
5CDS-intronENST00000261733ENST00000549455ALDH2chr12

112204900

+ATXN2chr12

111908546

-

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FusionProtFeatures for ALDH2_ATXN2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALDH2

P05091

ATXN2

Q99700

Involved in EGFR trafficking, acting as negativeregulator of endocytic EGFR internalization at the plasmamembrane. {ECO:0000269|PubMed:18602463}.

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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FusionGeneSequence for ALDH2_ATXN2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ALDH2_ATXN2


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
ALDH2UNC119, SLC35F6, IGSF21, CRMP1, C14orf1, EIF6, HSPE1, HSPD1, UBA5, ICT1, CUL3, APP, ALDH1A1, RPL13A, SERPINB5, IGKC, ALDH1A2, ALDH6A1, FGB, SERPINA1, TF, FGG, IGHG1, IGHG3, IGHG4, APOA1, FGA, CALML5, BTRC, LDHA, LDHAL6A, LDHB, RPE, SOD2, ESD, PDCD6IP, PGM1, UQCRC2, NTRK1, HSPB2, IGHA1, RPL11, ARID1A, XRCC3, ATAD5, APC, PHB2, RAD23B, SIRT3ATXN2VHL, CHGB, SH3KBP1, SH3GL2, SH3GL3, EGFR, TSG101, PABPC1, ISG15, PARK2, CUL3, CAND1, IDH3B, NCOA4, ZNRD1, RBFOX1, ATXN1, ACTN1, ACTN2, GOLGA6L5P, KIAA1279, TDRD7, BAG6, GFI1B, GPKOW, CCT5, MDC1, SHFM1, WWOX, DDX6, MOV10, NXF1, BMI1, CELA2B, FGL1, BCAT1, SKAP1, RBFOX2, CARD8, CCNDBP1, ADA, DDX17, DDX5, DHX15, KHDRBS1, KHDRBS2, KHDRBS3, TARDBP, LSM12, PABPC4, NTRK1, RPL10, YEATS4, SEC16A, PTPN18, PTPRA, LPXN, CELF5, ELAVL2, NME2P1, ESRP1, NUFIP2, APOBEC3D, NXF2, P4HA2, FAM98A, CLASRP, ASB3, G3BP1


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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RelatedDrugs for ALDH2_ATXN2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH2P05091DB00822DisulfiramAldehyde dehydrogenase, mitochondrialsmall moleculeapproved

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RelatedDiseases for ALDH2_ATXN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
HgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
HgeneALDH2C0085762Alcohol abuse5PSYGENET
HgeneALDH2C0393756Hangover from alcohol4PSYGENET
HgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
HgeneALDH2C0004096Asthma2CTD_human
HgeneALDH2C0005586Bipolar Disorder2PSYGENET
HgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneALDH2C0009404Colorectal Neoplasms1CTD_human
HgeneALDH2C0014859Esophageal Neoplasms1CTD_human
HgeneALDH2C0016382Flushing1CTD_human
HgeneALDH2C0021364Male infertility1CTD_human
HgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH2C0028796Dermatitis, Occupational1CTD_human
HgeneALDH2C0032927Precancerous Conditions1CTD_human
HgeneALDH2C0042373Vascular Diseases1CTD_human
HgeneALDH2C0242973Ventricular Dysfunction1CTD_human
HgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
HgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
HgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
HgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human
TgeneATXN2C0087012Ataxia, Spinocerebellar2CTD_human
TgeneATXN2C0036341Schizophrenia1PSYGENET
TgeneATXN2C0339573Glaucoma, Primary Open Angle1CTD_human