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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: 1458

FusionGeneSummary for ALDH1A1_ALDH1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH1A1_ALDH1A1
Fusion gene ID: 1458
HgeneTgene
Gene symbol

ALDH1A1

ALDH1A1

Gene ID

216

216

Gene namealdehyde dehydrogenase 1 family member A1aldehyde dehydrogenase 1 family member A1
SynonymsALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1ALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1
Cytomap

9q21.13

9q21.13

Type of geneprotein-codingprotein-coding
Descriptionretinal dehydrogenase 1ALDH class 1ALHDIIRALDH 1acetaldehyde dehydrogenase 1aldehyde dehydrogenase 1, solublealdehyde dehydrogenase, liver cytosolicepididymis luminal protein 12epididymis luminal protein 9epididymis secretory sperm binding proteiretinal dehydrogenase 1ALDH class 1ALHDIIRALDH 1acetaldehyde dehydrogenase 1aldehyde dehydrogenase 1, solublealdehyde dehydrogenase, liver cytosolicepididymis luminal protein 12epididymis luminal protein 9epididymis secretory sperm binding protei
Modification date2018052320180523
UniProtAcc

P00352

P00352

Ensembl transtripts involved in fusion geneENST00000297785, ENST00000376939, 
ENST00000482210, 		ENST00000297785, 
ENST00000376939, ENST00000482210, 
Fusion gene scores* DoF score5 X 8 X 3=1203 X 6 X 2=36
# samples 107
** MAII scorelog2(10/120*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/36*10)=0.959358015502654
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ALDH1A1 [Title/Abstract] AND ALDH1A1 [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
HgeneALDH1A1

GO:0055114

oxidation-reduction process

25450233

TgeneALDH1A1

GO:0055114

oxidation-reduction process

25450233


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
ChiTaRS3.1AA515000ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
ChiTaRS3.1BQ317586ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
ChiTaRS3.1BU674486ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
ChiTaRS3.1DA896624ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
ChiTaRS3.1BU685483ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
* 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-3UTRENST00000297785ENST00000297785ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-intronENST00000297785ENST00000376939ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-intronENST00000297785ENST00000482210ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-3UTRENST00000376939ENST00000297785ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-intronENST00000376939ENST00000376939ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-intronENST00000376939ENST00000482210ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-3UTRENST00000482210ENST00000297785ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-intronENST00000482210ENST00000376939ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-intronENST00000482210ENST00000482210ALDH1A1chr9

75515804

+ALDH1A1chr9

75515725

-
intron-3CDSENST00000297785ENST00000297785ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-3CDSENST00000297785ENST00000376939ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-5UTRENST00000297785ENST00000482210ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-3CDSENST00000376939ENST00000297785ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-3CDSENST00000376939ENST00000376939ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-5UTRENST00000376939ENST00000482210ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-3CDSENST00000482210ENST00000297785ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-3CDSENST00000482210ENST00000376939ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-5UTRENST00000482210ENST00000482210ALDH1A1chr9

75543894

+ALDH1A1chr9

75545895

-
intron-3CDSENST00000297785ENST00000297785ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-intronENST00000297785ENST00000376939ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-intronENST00000297785ENST00000482210ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-3CDSENST00000376939ENST00000297785ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-intronENST00000376939ENST00000376939ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-intronENST00000376939ENST00000482210ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-3CDSENST00000482210ENST00000297785ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-intronENST00000482210ENST00000376939ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-intronENST00000482210ENST00000482210ALDH1A1chr9

75515698

+ALDH1A1chr9

75516164

-
intron-3CDSENST00000297785ENST00000297785ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-3CDSENST00000297785ENST00000376939ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-5UTRENST00000297785ENST00000482210ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-3CDSENST00000376939ENST00000297785ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-3CDSENST00000376939ENST00000376939ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-5UTRENST00000376939ENST00000482210ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-3CDSENST00000482210ENST00000297785ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-3CDSENST00000482210ENST00000376939ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-
intron-5UTRENST00000482210ENST00000482210ALDH1A1chr9

75531935

-ALDH1A1chr9

75540477

-

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FusionProtFeatures for ALDH1A1_ALDH1A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALDH1A1

P00352

ALDH1A1

P00352

Can convert/oxidize retinaldehyde to retinoic acid.Binds free retinal and cellular retinol-binding protein-boundretinal (By similarity). May have a broader specificity andoxidize other aldehydes in vivo (PubMed:19296407, PubMed:26373694,PubMed:25450233). {ECO:0000250|UniProtKB:P51647,ECO:0000269|PubMed:19296407, ECO:0000269|PubMed:25450233,ECO:0000269|PubMed:26373694}. Can convert/oxidize retinaldehyde to retinoic acid.Binds free retinal and cellular retinol-binding protein-boundretinal (By similarity). May have a broader specificity andoxidize other aldehydes in vivo (PubMed:19296407, PubMed:26373694,PubMed:25450233). {ECO:0000250|UniProtKB:P51647,ECO:0000269|PubMed:19296407, ECO:0000269|PubMed:25450233,ECO:0000269|PubMed:26373694}.

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 ALDH1A1_ALDH1A1


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 ALDH1A1_ALDH1A1


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 ALDH1A1_ALDH1A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH1A1P00352DB00755TretinoinRetinal dehydrogenase 1 {ECO:0000305}small moleculeapproved|investigational|nutraceutical
HgeneALDH1A1P00352DB00162Vitamin ARetinal dehydrogenase 1 {ECO:0000305}small moleculeapproved|nutraceutical|vet_approved
TgeneALDH1A1P00352DB00755TretinoinRetinal dehydrogenase 1 {ECO:0000305}small moleculeapproved|investigational|nutraceutical
TgeneALDH1A1P00352DB00162Vitamin ARetinal dehydrogenase 1 {ECO:0000305}small moleculeapproved|nutraceutical|vet_approved

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RelatedDiseases for ALDH1A1_ALDH1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH1A1C0001973Alcoholic Intoxication, Chronic5PSYGENET
HgeneALDH1A1C0001969Alcoholic Intoxication1PSYGENET
HgeneALDH1A1C0007134Renal Cell Carcinoma1CTD_human
HgeneALDH1A1C0022336Creutzfeldt-Jakob disease1CTD_human
HgeneALDH1A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH1A1C0036341Schizophrenia1PSYGENET
HgeneALDH1A1C0085762Alcohol abuse1PSYGENET
HgeneALDH1A1C0242422Parkinsonian Disorders1CTD_human
TgeneALDH1A1C0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneALDH1A1C0001969Alcoholic Intoxication1PSYGENET
TgeneALDH1A1C0007134Renal Cell Carcinoma1CTD_human
TgeneALDH1A1C0022336Creutzfeldt-Jakob disease1CTD_human
TgeneALDH1A1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneALDH1A1C0036341Schizophrenia1PSYGENET
TgeneALDH1A1C0085762Alcohol abuse1PSYGENET
TgeneALDH1A1C0242422Parkinsonian Disorders1CTD_human