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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:NAGLU-SH3GL1 (FusionGDB2 ID:57148)

Fusion Gene Summary for NAGLU-SH3GL1

Fusion gene summary

Fusion gene information	Fusion gene name: NAGLU-SH3GL1
	Fusion gene ID: 57148
		Hgene	Tgene
	Gene symbol	NAGLU	SH3GL1
	Gene ID	4669	6455
	Gene name	N-acetyl-alpha-glucosaminidase	SH3 domain containing GRB2 like 1, endophilin A2
	Synonyms	CMT2V\|MPS-IIIB\|MPS3B\|NAG\|UFHSD	CNSA1\|EEN\|SH3D2B\|SH3P8
	Cytomap	17q21.2	19p13.3
	Type of gene	protein-coding	protein-coding
	Description	alpha-N-acetylglucosaminidaseN-acetylglucosaminidase, alphatesticular tissue protein Li 18	endophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene protein
	Modification date	20200313	20200313
	UniProtAcc	P54802	Q99961
	Ensembl transtripts involved in fusion gene	ENST00000225927,	ENST00000417295, ENST00000598564, ENST00000269886,
Fusion gene scores	* DoF score	4 X 4 X 3=48	10 X 6 X 9=540
	# samples	4	10
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/540*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: NAGLU [Title/Abstract] AND SH3GL1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	NAGLU(40693224)-SH3GL1(4364218), # 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

Fusion gene breakpoints across NAGLU (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across SH3GL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4	LUSC	TCGA-21-1072	NAGLU	chr17	40693224	+	SH3GL1	chr19	4364218	-

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Fusion Gene ORF analysis for NAGLU-SH3GL1

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
5CDS-intron	ENST00000225927	ENST00000417295	NAGLU	chr17	40693224	+	SH3GL1	chr19	4364218	-
5CDS-intron	ENST00000225927	ENST00000598564	NAGLU	chr17	40693224	+	SH3GL1	chr19	4364218	-
In-frame	ENST00000225927	ENST00000269886	NAGLU	chr17	40693224	+	SH3GL1	chr19	4364218	-

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)

ENST00000225927

NAGLU

chr17

40693224

ENST00000269886

SH3GL1

chr19

4364218

3128

1122

101

1897

598

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
ENST00000225927	ENST00000269886	NAGLU	chr17	40693224	+	SH3GL1	chr19	4364218	-	0.00823013	0.9917699

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Fusion Genomic Features for NAGLU-SH3GL1

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)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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 NAGLU-SH3GL1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:40693224/chr19:4364218)
- 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
NAGLU P54802	SH3GL1 Q99961
FUNCTION: Involved in the degradation of heparan sulfate.	FUNCTION: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (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

Hgene

NAGLU

chr17:40693224

chr19:4364218

ENST00000225927

68_71

340

744.0

Compositional bias

Note=Poly-Gly

Hgene

NAGLU

chr17:40693224

chr19:4364218

ENST00000225927

84_87

340

744.0

Compositional bias

Note=Poly-Ala

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000269886

145_250

110

369.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000417295

145_250

321.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000598564

145_250

305.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000269886

306_365

110

369.0

Domain

SH3

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000417295

306_365

321.0

Domain

SH3

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000598564

18_249

305.0

Domain

BAR

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000598564

306_365

305.0

Domain

SH3

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000417295

60_87

321.0

Region

Required for dimerization upon membrane association

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000598564

1_21

305.0

Region

Membrane-binding amphipathic helix

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000598564

60_87

305.0

Region

Required for dimerization upon membrane association

- 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

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000269886

18_249

110

369.0

Domain

BAR

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000417295

18_249

321.0

Domain

BAR

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000269886

1_21

110

369.0

Region

Membrane-binding amphipathic helix

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000269886

60_87

110

369.0

Region

Required for dimerization upon membrane association

Tgene

SH3GL1

chr17:40693224

chr19:4364218

ENST00000417295

1_21

321.0

Region

Membrane-binding amphipathic helix

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Fusion Gene Sequence for NAGLU-SH3GL1

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.

>57148_57148_1_NAGLU-SH3GL1_NAGLU_chr17_40693224_ENST00000225927_SH3GL1_chr19_4364218_ENST00000269886_length(transcript)=3128nt_BP=1122nt
CCCGGGCTTAGCCTTCGGGTCCACGTGGCCGGAGGCCGGCAGCTGATTGGACGCGGGCCGCCCCACCCCCTGGCCGTCGCGGGACCCGCA
GGACTGAGACCATGGAGGCGGTGGCGGTGGCCGCGGCGGTGGGGGTCCTTCTCCTGGCCGGGGCCGGGGGCGCGGCAGGCGACGAGGCCC
GGGAGGCGGCGGCCGTGCGGGCGCTCGTGGCCCGGCTGCTGGGGCCAGGCCCCGCGGCCGACTTCTCCGTGTCGGTGGAGCGCGCTCTGG
CTGCCAAGCCGGGCTTGGACACCTACAGCCTGGGCGGCGGCGGCGCGGCGCGCGTGCGGGTGCGCGGCTCCACGGGCGTGGCGGCCGCCG
CGGGGCTGCACCGCTACCTGCGCGACTTCTGTGGCTGCCACGTGGCCTGGTCCGGCTCTCAGCTGCGCCTGCCGCGGCCACTGCCAGCCG
TGCCGGGGGAGCTGACCGAGGCCACGCCCAACAGGTACCGCTATTACCAGAATGTGTGCACGCAAAGCTACTCTTTCGTGTGGTGGGACT
GGGCCCGCTGGGAGCGAGAGATAGACTGGATGGCGCTGAATGGCATCAACCTGGCACTGGCCTGGAGCGGCCAGGAGGCCATCTGGCAGC
GGGTGTACCTGGCCTTGGGCCTGACCCAGGCAGAGATCAATGAGTTCTTTACTGGTCCTGCCTTCCTGGCCTGGGGGCGAATGGGCAACC
TGCACACCTGGGATGGCCCCCTGCCCCCCTCCTGGCACATCAAGCAGCTTTACCTGCAGCACCGGGTCCTGGACCAGATGCGCTCCTTCG
GCATGACCCCAGTGCTGCCTGCATTCGCGGGGCATGTTCCCGAGGCTGTCACCAGGGTGTTCCCTCAGGTCAATGTCACGAAGATGGGCA
GTTGGGGCCACTTTAACTGTTCCTACTCCTGCTCCTTCCTTCTGGCTCCGGAAGACCCCATATTCCCCATCATCGGGAGCCTCTTCCTGC
GAGAGCTGATCAAAGAGTTTGGCACAGACCACATCTATGGGGCCGACACTTTCAATGAGATGCAGCCACCTTCCTCAGAGCCCTCCTACC
TTGCCGCAGCCACCACTGCCGTCTATGAGGCCATGACTGCAGGTGACGCATTGCTGGATGCCGGCGAGTCCATGAAGCGCCTGGCAGAGG
TGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCCAGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGCACC
ACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGC
TGGAGAAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGG
CCCTGGTGGATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAG
CTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCT
GCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACAAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGG
ACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGACCA
ACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCCTGC
CGCAGTGACTCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGGCACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCCCTG
CTGCCAGGGCGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTGAGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGGGGG
GCTTATCTGGGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAACGGTGACGGCTCCCTTCCCCACTCCATGGCGCCAGCCTCC
TCCCCCGCTCCCCAACTTCTCGCCCAGCTGGCCGAGGCGGGGCAACACTAAGGTGCTCTTAGAAACACTAATGTTCCTCTGGGGCAGCCC
CCACCTCCGTCCTGACCCGACGGGGGCCCGGCCCACTGCCTACCCTCGAGTCCCGCAGCCTTAACAGGATGGGATCGAGGGTCCCCATGG
GGTGGCTCAGAGATAGGACCCTGGTTTTAAATCCCTCCCAGCCTGGTGCTGGTGATGGGCCCTGGCCCTACTCCAGGGCCAATGCACCCC
CGCCTCACACACGCACTCCTTCTCCTCAAGGCCAGGGCAGAGGGCCTCACCGCCTCCCGGGCCTGCTGTCAGCTTGCAGCCCGGGGACAG
AGGCCAGCTGGGATCTGCCTGAGGACAGAGAACATGGTCTCCTGCAGGGCCCTGCCTCCCAAGCCCCGCCCTCAGAAAGCCAAGTACCTT
TTCAGCTTTTTAACTGCCCCCATCCCAACCCAGGGAGGCCTGTGTCACTCTGGCACAAGCTGCCACCACCAGCCACCCACACCCACCCCA
GCACACCTCACACGGGACCACAGCCGCGCTGCCGAGGGCCAAGCACAAAGGTTCCAGTGAGCGCATGTCCCAGCCCCTGGTGGCCAGGCT
CCCCTTGCTGAGCCGCTGCCACTTCACCCTGTGGGAAGTGGCCCCAGCCATCTCCTCTAGACCAAGGCAGGCAGCCCCGACATCTGCTTC
CTCTATCGCCCAATGCAAAATCGATGAAATGGGGAGTTCTCTGGGCCAGGCCACATTCACATTCCCCTCCCCCTGTGGTCCAGTGAAGCC
TCCGGACCCCAGGCTCTGCTCTGCCCTGCCCTGCACCCCCCTCGTCAGAAGTACATGAGGGGCGCAGAGATGAGCACACAGCTTTGGGCA

>57148_57148_1_NAGLU-SH3GL1_NAGLU_chr17_40693224_ENST00000225927_SH3GL1_chr19_4364218_ENST00000269886_length(amino acids)=598AA_BP=340
MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKPGLDTYSLGGGGAARVRVRGSTGVAAAAGLH
RYLRDFCGCHVAWSGSQLRLPRPLPAVPGELTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYL
ALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTPVLPAFAGHVPEAVTRVFPQVNVTKMGSWGH
FNCSYSCSFLLAPEDPIFPIIGSLFLRELIKEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAGDALLDAGESMKRLAEVKDS
LDIEVKQNFIDPLQNLCEKDLKEIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVD
AQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPREPFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPS

--------------------------------------------------------------

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Fusion Gene PPI Analysis for NAGLU-SH3GL1

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
Tgene	SH3GL1	chr17:40693224	chr19:4364218	ENST00000269886		3	10	218_254	110.33333333333333	369.0	ARC
Tgene	SH3GL1	chr17:40693224	chr19:4364218	ENST00000417295		2	9	218_254	62.333333333333336	321.0	ARC
Tgene	SH3GL1	chr17:40693224	chr19:4364218	ENST00000598564		0	10	218_254	0	305.0	ARC

- 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 NAGLU-SH3GL1

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 NAGLU-SH3GL1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source