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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: 1459

FusionGeneSummary for ALDH1A1_ELL

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH1A1_ELL
Fusion gene ID: 1459
HgeneTgene
Gene symbol

ALDH1A1

ELL

Gene ID

216

8178

Gene namealdehyde dehydrogenase 1 family member A1elongation factor for RNA polymerase II
SynonymsALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1C19orf17|ELL1|MEN|PPP1R68
Cytomap

9q21.13

19p13.11

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 proteiRNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)eleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein phosphatase 1, regulatory subunit 68
Modification date2018052320180519
UniProtAcc

P00352

P55199

Ensembl transtripts involved in fusion geneENST00000297785, ENST00000376939, 
ENST00000482210, 
ENST00000262809, 
ENST00000596124, 
Fusion gene scores* DoF score5 X 8 X 3=1206 X 10 X 5=300
# samples 1014
** MAII scorelog2(10/120*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/300*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH1A1 [Title/Abstract] AND ELL [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

TgeneELL

GO:0010923

negative regulation of phosphatase activity

19389623


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
ChiTaRS3.1AI493829ALDH1A1chr9

75652625

+ELLchr19

18555203

+
* 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-3UTRENST00000297785ENST00000262809ALDH1A1chr9

75652625

+ELLchr19

18555203

+
intron-intronENST00000297785ENST00000596124ALDH1A1chr9

75652625

+ELLchr19

18555203

+
intron-3UTRENST00000376939ENST00000262809ALDH1A1chr9

75652625

+ELLchr19

18555203

+
intron-intronENST00000376939ENST00000596124ALDH1A1chr9

75652625

+ELLchr19

18555203

+
intron-3UTRENST00000482210ENST00000262809ALDH1A1chr9

75652625

+ELLchr19

18555203

+
intron-intronENST00000482210ENST00000596124ALDH1A1chr9

75652625

+ELLchr19

18555203

+

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FusionProtFeatures for ALDH1A1_ELL


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

P00352

ELL

P55199

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}. Elongation factor component of the super elongationcomplex (SEC), a complex required to increase the catalytic rateof RNA polymerase II transcription by suppressing transientpausing by the polymerase at multiple sites along the DNA.Elongation factor component of the little elongation complex(LEC), a complex required to regulate small nuclear RNA (snRNA)gene transcription by RNA polymerase II and III (PubMed:22195968,PubMed:23932780). Specifically required for stimulating theelongation step of RNA polymerase II- and III-dependent snRNA genetranscription (PubMed:23932780). ELL also plays an early rolebefore its assembly into in the SEC complex by stabilizing RNApolymerase II recruitment/initiation and entry into the pausesite. Required to stabilize the pre-initiation complex and earlyelongation. {ECO:0000269|PubMed:16006523,ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948,ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:22252557,ECO:0000269|PubMed:23932780, ECO:0000269|PubMed:8596958}.

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_ELL


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_ELL


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_ELL


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

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RelatedDiseases for ALDH1A1_ELL


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