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Center for Computational Systems Medicine
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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:AHI1-GLS (FusionGDB2 ID:HG54806TG2744)

Fusion Gene Summary for AHI1-GLS

check button Fusion gene summary
Fusion gene informationFusion gene name: AHI1-GLS
Fusion gene ID: hg54806tg2744
HgeneTgene
Gene symbol

AHI1

GLS

Gene ID

54806

2744

Gene nameAbelson helper integration site 1glutaminase
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1AAD20|CASGID|EIEE71|GAC|GAM|GDPAG|GLS1|KGA
Cytomap('AHI1')('GLS')

6q23.3

2q32.2

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domainsglutaminase kidney isoform, mitochondrialK-glutaminaseL-glutamine amidohydrolaseglutaminase Cglutaminase, phosphate-activated
Modification date2020031320200313
UniProtAcc

Q8N157

.
Ensembl transtripts involved in fusion geneENST00000327035, ENST00000367800, 
ENST00000457866, ENST00000488690, 
ENST00000531527, ENST00000367798, 
ENST00000417892, ENST00000528103, 
ENST00000534469, 
Fusion gene scores* DoF score10 X 11 X 6=66012 X 9 X 5=540
# samples 1012
** MAII scorelog2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHI1 [Title/Abstract] AND GLS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHI1(135818721)-GLS(191765290), # samples:1
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
TgeneGLS

GO:0006537

glutamate biosynthetic process

16899818|22049910

TgeneGLS

GO:0006543

glutamine catabolic process

22049910

TgeneGLS

GO:0051289

protein homotetramerization

22049910



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


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Fusion Gene ORF analysis for AHI1-GLS

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

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 AHI1-GLS


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)
AHI1chr6135818720-GLSchr2191765289+9.48E-060.99999046
AHI1chr6135818720-GLSchr2191765289+9.48E-060.99999046


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 AHI1-GLS


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/:135818721/:191765290)
- 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
AHI1

Q8N157

.
FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}.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}.

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 AHI1-GLS


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 AHI1-GLS


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 AHI1-GLS


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 AHI1-GLS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHI1C1837713JOUBERT SYNDROME 37CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAHI1C0004352Autistic Disorder1CTD_human
HgeneAHI1C0007760Cerebellar Diseases1CTD_human
HgeneAHI1C0020796Profound Mental Retardation1CTD_human
HgeneAHI1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneAHI1C0035304Retinal Degeneration1CTD_human
HgeneAHI1C0036341Schizophrenia1CTD_human
HgeneAHI1C0152427Polydactyly1GENOMICS_ENGLAND
HgeneAHI1C0162538Immunoglobulin A deficiency (disorder)1CTD_human
HgeneAHI1C0431399Familial aplasia of the vermis1GENOMICS_ENGLAND;ORPHANET
HgeneAHI1C0917816Mental deficiency1CTD_human
HgeneAHI1C3553264JOUBERT SYNDROME 171GENOMICS_ENGLAND
HgeneAHI1C3714756Intellectual Disability1CTD_human
HgeneAHI1C4274118Joubert syndrome with ocular defect1ORPHANET
HgeneAHI1C4551568Joubert syndrome 11ORPHANET
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4552766Miscarriage1CTD_human