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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:AHI1-GLS (FusionGDB2 ID:HG54806TG2744)

Fusion Gene Summary for AHI1-GLS

Fusion gene summary

Fusion gene information	Fusion gene name: AHI1-GLS
	Fusion gene ID: hg54806tg2744
		Hgene	Tgene
	Gene symbol	AHI1	GLS
	Gene ID	54806	2744
	Gene name	Abelson helper integration site 1	glutaminase
	Synonyms	AHI-1\|JBTS3\|ORF1\|dJ71N10.1	AAD20\|CASGID\|EIEE71\|GAC\|GAM\|GDPAG\|GLS1\|KGA
	Cytomap	('AHI1')('GLS') 6q23.3	2q32.2
	Type of gene	protein-coding	protein-coding
	Description	jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains	glutaminase kidney isoform, mitochondrialK-glutaminaseL-glutamine amidohydrolaseglutaminase Cglutaminase, phosphate-activated
	Modification date	20200313	20200313
	UniProtAcc	Q8N157	.
	Ensembl transtripts involved in fusion gene	ENST00000327035, ENST00000367800, ENST00000457866, ENST00000488690, ENST00000531527, ENST00000367798, ENST00000417892, ENST00000528103, ENST00000534469,
Fusion gene scores	* DoF score	10 X 11 X 6=660	12 X 9 X 5=540
	# samples	10	12
	** MAII score	log2(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 breakpoint	AHI1(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	GLS	GO:0006537	glutamate biosynthetic process	16899818\|22049910
Tgene	GLS	GO:0006543	glutamine catabolic process	22049910
Tgene	GLS	GO:0051289	protein homotetramerization	22049910

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	DA400572	AHI1	chr6	135818721	-	GLS	chr2	191765290	+

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Fusion Gene ORF analysis for AHI1-GLS

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000327035	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000327035	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000367800	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000367800	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000457866	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000457866	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000488690	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000488690	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000531527	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-3CDS	ENST00000531527	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000327035	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000327035	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000327035	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000327035	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000367800	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000367800	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000367800	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000367800	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000457866	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000457866	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000457866	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000457866	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000488690	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000488690	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000488690	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000488690	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000531527	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000531527	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000531527	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
5UTR-intron	ENST00000531527	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000367798	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000367798	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000417892	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000417892	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000528103	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000528103	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000534469	ENST00000320717	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-3CDS	ENST00000534469	ENST00000338435	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000367798	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000367798	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000367798	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000367798	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000417892	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000417892	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000417892	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000417892	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000528103	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000528103	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000528103	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000528103	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000534469	ENST00000409215	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000534469	ENST00000409428	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000534469	ENST00000409626	AHI1	chr6	135818721	-	GLS	chr2	191765290	+
intron-intron	ENST00000534469	ENST00000471443	AHI1	chr6	135818721	-	GLS	chr2	191765290	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for AHI1-GLS

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
AHI1	chr6	135818720	-	GLS	chr2	191765289	+	9.48E-06	0.99999046
AHI1	chr6	135818720	-	GLS	chr2	191765289	+	9.48E-06	0.99999046

Distribution 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.

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Fusion Protein Features for AHI1-GLS

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for AHI1-GLS

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for AHI1-GLS

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for AHI1-GLS

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	AHI1	C1837713	JOUBERT SYNDROME 3	7	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	AHI1	C0004352	Autistic Disorder	1	CTD_human
Hgene	AHI1	C0007760	Cerebellar Diseases	1	CTD_human
Hgene	AHI1	C0020796	Profound Mental Retardation	1	CTD_human
Hgene	AHI1	C0025363	Mental Retardation, Psychosocial	1	CTD_human
Hgene	AHI1	C0035304	Retinal Degeneration	1	CTD_human
Hgene	AHI1	C0036341	Schizophrenia	1	CTD_human
Hgene	AHI1	C0152427	Polydactyly	1	GENOMICS_ENGLAND
Hgene	AHI1	C0162538	Immunoglobulin A deficiency (disorder)	1	CTD_human
Hgene	AHI1	C0431399	Familial aplasia of the vermis	1	GENOMICS_ENGLAND;ORPHANET
Hgene	AHI1	C0917816	Mental deficiency	1	CTD_human
Hgene	AHI1	C3553264	JOUBERT SYNDROME 17	1	GENOMICS_ENGLAND
Hgene	AHI1	C3714756	Intellectual Disability	1	CTD_human
Hgene	AHI1	C4274118	Joubert syndrome with ocular defect	1	ORPHANET
Hgene	AHI1	C4551568	Joubert syndrome 1	1	ORPHANET
Tgene		C0000786	Spontaneous abortion	1	CTD_human
Tgene		C0000822	Abortion, Tubal	1	CTD_human
Tgene		C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene		C0029408	Degenerative polyarthritis	1	CTD_human
Tgene		C0086743	Osteoarthrosis Deformans	1	CTD_human
Tgene		C3830362	Early Pregnancy Loss	1	CTD_human
Tgene		C4552766	Miscarriage	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:AHI1-GLS (FusionGDB2 ID:HG54806TG2744)

Fusion Gene Summary for AHI1-GLS

Fusion Gene ORF analysis for AHI1-GLS

Fusion Genomic Features for AHI1-GLS

Fusion Protein Features for AHI1-GLS

Fusion Gene Sequence for AHI1-GLS

Fusion Gene PPI Analysis for AHI1-GLS

Related Drugs for AHI1-GLS

Related Diseases for AHI1-GLS

Fusion Gene Studies
in Kim Lab