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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:ALDH3A1-NF1 (FusionGDB2 ID:HG218TG4763)

Fusion Gene Summary for ALDH3A1-NF1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH3A1-NF1
Fusion gene ID: hg218tg4763
HgeneTgene
Gene symbol

ALDH3A1

NF1

Gene ID

218

4763

Gene namealdehyde dehydrogenase 3 family member A1neurofibromin 1
SynonymsALDH3|ALDHIIINFNS|VRNF|WSS
Cytomap('ALDH3A1')('NF1')

17p11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionaldehyde dehydrogenase, dimeric NADP-preferringaldehyde dehydrogenase isozyme 3aldehyde dehydrogenase type IIIstomach aldehyde dehydrogenaseneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1
Modification date2020032020200322
UniProtAcc.

P21359

Ensembl transtripts involved in fusion geneENST00000225740, ENST00000395555, 
ENST00000485231, ENST00000494157, 
ENST00000444455, ENST00000457500, 
Fusion gene scores* DoF score5 X 5 X 4=10028 X 30 X 15=12600
# samples 733
** MAII scorelog2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(33/12600*10)=-5.25481389902883
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH3A1 [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALDH3A1(19651572)-NF1(29585362), # samples:2
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
HgeneALDH3A1

GO:0006081

cellular aldehyde metabolic process

1737758

HgeneALDH3A1

GO:0055114

oxidation-reduction process

1737758

TgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371



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
ChimerDB4THYMTCGA-ZB-A96L-01AALDH3A1chr17

19651572

-NF1chr17

29585362

+


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Fusion Gene ORF analysis for ALDH3A1-NF1

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
5UTR-3CDSENST00000225740ENST00000356175ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000225740ENST00000358273ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000395555ENST00000356175ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000395555ENST00000358273ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000485231ENST00000356175ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000485231ENST00000358273ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000494157ENST00000356175ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-3CDSENST00000494157ENST00000358273ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000225740ENST00000417592ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000225740ENST00000431387ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000225740ENST00000444181ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000225740ENST00000581113ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000395555ENST00000417592ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000395555ENST00000431387ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000395555ENST00000444181ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000395555ENST00000581113ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000485231ENST00000417592ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000485231ENST00000431387ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000485231ENST00000444181ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000485231ENST00000581113ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000494157ENST00000417592ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000494157ENST00000431387ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000494157ENST00000444181ALDH3A1chr17

19651572

-NF1chr17

29585362

+
5UTR-intronENST00000494157ENST00000581113ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-3CDSENST00000444455ENST00000356175ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-3CDSENST00000444455ENST00000358273ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-3CDSENST00000457500ENST00000356175ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-3CDSENST00000457500ENST00000358273ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000444455ENST00000417592ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000444455ENST00000431387ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000444455ENST00000444181ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000444455ENST00000581113ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000457500ENST00000417592ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000457500ENST00000431387ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000457500ENST00000444181ALDH3A1chr17

19651572

-NF1chr17

29585362

+
intron-intronENST00000457500ENST00000581113ALDH3A1chr17

19651572

-NF1chr17

29585362

+

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 ALDH3A1-NF1


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)
ALDH3A1chr1719651571-NF1chr1729585361+0.0035824230.9964175
ALDH3A1chr1719651571-NF1chr1729585361+0.0035824230.9964175


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ALDH3A1-NF1


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/:19651572/:29585362)
- 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
.NF1

P21359

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.

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 ALDH3A1-NF1


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 ALDH3A1-NF1


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 ALDH3A1-NF1


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

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Related Diseases for ALDH3A1-NF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH3A1C0036341Schizophrenia1PSYGENET
HgeneALDH3A1C0086543Cataract1CTD_human
HgeneALDH3A1C0349702Corneal Scar1CTD_human
HgeneALDH3A1C0524524Pseudoaphakia1CTD_human
HgeneALDH3A1C1510497Lens Opacities1CTD_human
TgeneC0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
TgeneC0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
TgeneC0004114Astrocytoma2CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneC0025202melanoma2CGI;CTD_human
TgeneC0026998Acute Myeloid Leukemia, M12CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma2CTD_human
TgeneC0206727Nerve Sheath Tumors2CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma2CTD_human
TgeneC0280785Diffuse Astrocytoma2CTD_human
TgeneC0334579Anaplastic astrocytoma2CTD_human
TgeneC0334580Protoplasmic astrocytoma2CTD_human
TgeneC0334581Gemistocytic astrocytoma2CTD_human
TgeneC0334582Fibrillary Astrocytoma2CTD_human
TgeneC0334583Pilocytic Astrocytoma2CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma2CTD_human
TgeneC0547065Mixed oligoastrocytoma2CTD_human
TgeneC0750935Cerebral Astrocytoma2CTD_human
TgeneC0750936Intracranial Astrocytoma2CTD_human
TgeneC0751689Peripheral Nerve Sheath Neoplasm2CTD_human
TgeneC0751691Perineurioma2CTD_human
TgeneC1704230Grade I Astrocytoma2CTD_human
TgeneC1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
TgeneC0001430Adenoma1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0016057Fibrosarcoma1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0017638Glioma1CGI;CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0023186Learning Disorders1CTD_human
TgeneC0023827liposarcoma1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0026654Moyamoya Disease1GENOMICS_ENGLAND
TgeneC0027809Neurilemmoma1CTD_human
TgeneC0027830neurofibroma1CTD_human
TgeneC0027962Melanocytic nevus1CTD_human
TgeneC0028326Noonan Syndrome1GENOMICS_ENGLAND
TgeneC0031511Pheochromocytoma1CTD_human
TgeneC0035320Retinal Neovascularization1CTD_human
TgeneC0205646Adenoma, Basal Cell1CTD_human
TgeneC0205647Follicular adenoma1CTD_human
TgeneC0205648Adenoma, Microcystic1CTD_human
TgeneC0205649Adenoma, Monomorphic1CTD_human
TgeneC0205650Papillary adenoma1CTD_human
TgeneC0205651Adenoma, Trabecular1CTD_human
TgeneC0205824Liposarcoma, Dedifferentiated1CTD_human
TgeneC0205825Liposarcoma, Pleomorphic1CTD_human
TgeneC0205944Sarcoma, Epithelioid1CTD_human
TgeneC0205945Sarcoma, Spindle Cell1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0751262Adult Learning Disorders1CTD_human
TgeneC0751263Learning Disturbance1CTD_human
TgeneC0751265Learning Disabilities1CTD_human
TgeneC0751374Schwannomatosis, Plexiform1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC0917817Neurofibromatosis 31CTD_human
TgeneC1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneC1261473Sarcoma1CTD_human
TgeneC1330966Developmental Academic Disorder1CTD_human
TgeneC1370889Liposarcoma, well differentiated1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC3150928NF1 Microdeletion Syndrome1ORPHANET
TgeneC3714756Intellectual Disability1CTD_human