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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: 32196

FusionGeneSummary for RPSAP52_ALDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: RPSAP52_ALDH2
Fusion gene ID: 32196
HgeneTgene
Gene symbol

RPSAP52

ALDH2

Gene ID

204010

217

Gene nameribosomal protein SA pseudogene 52aldehyde dehydrogenase 2 family member
SynonymsRPSA_17_1251ALDH-E2|ALDHI|ALDM
Cytomap

12q14.3

12q24.12

Type of genepseudoprotein-coding
Description-aldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)liver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2
Modification date2018032920180527
UniProtAcc

P05091

Ensembl transtripts involved in fusion geneENST00000489520, ENST00000416293, 
ENST00000261733, 
Fusion gene scores* DoF score5 X 4 X 2=403 X 5 X 4=60
# samples 85
** MAII scorelog2(8/40*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPSAP52 [Title/Abstract] AND ALDH2 [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
ChiTaRS3.1S80262RPSAP52chr12

66232351

+ALDH2chr12

112247346

+
* 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
intron-3CDSENST00000489520ENST00000416293RPSAP52chr12

66232351

+ALDH2chr12

112247346

+
intron-3CDSENST00000489520ENST00000261733RPSAP52chr12

66232351

+ALDH2chr12

112247346

+

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FusionProtFeatures for RPSAP52_ALDH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPSAP52

ALDH2

P05091

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 RPSAP52_ALDH2


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 RPSAP52_ALDH2


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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RelatedDrugs for RPSAP52_ALDH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALDH2P05091DB00822DisulfiramAldehyde dehydrogenase, mitochondrialsmall moleculeapproved

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RelatedDiseases for RPSAP52_ALDH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
TgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
TgeneALDH2C0085762Alcohol abuse5PSYGENET
TgeneALDH2C0393756Hangover from alcohol4PSYGENET
TgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
TgeneALDH2C0004096Asthma2CTD_human
TgeneALDH2C0005586Bipolar Disorder2PSYGENET
TgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
TgeneALDH2C0009404Colorectal Neoplasms1CTD_human
TgeneALDH2C0014859Esophageal Neoplasms1CTD_human
TgeneALDH2C0016382Flushing1CTD_human
TgeneALDH2C0021364Male infertility1CTD_human
TgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneALDH2C0028796Dermatitis, Occupational1CTD_human
TgeneALDH2C0032927Precancerous Conditions1CTD_human
TgeneALDH2C0042373Vascular Diseases1CTD_human
TgeneALDH2C0242973Ventricular Dysfunction1CTD_human
TgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
TgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
TgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
TgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human