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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:NARS2-ALG8

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: NARS2-ALG8
	FusionPDB ID: 57267
	FusionGDB2.0 ID: 57267
		Hgene	Tgene
	Gene symbol	NARS2	ALG8
	Gene ID	79731	79053
	Gene name	asparaginyl-tRNA synthetase 2, mitochondrial	ALG8 alpha-1,3-glucosyltransferase
	Synonyms	DFNB94\|SLM5\|asnRS	CDG1H\|PCLD3
	Cytomap	11q14.1	11q14.1
	Type of gene	protein-coding	protein-coding
	Description	probable asparagine--tRNA ligase, mitochondrialasparagine tRNA ligase 2, mitochondrial (putative)asparaginyl-tRNA synthetase 2, mitochondrial (putative)deafness, autosomal recessive 94probable asparaginyl-tRNA synthetase, mitochondrial	probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferaseHUSSY-02asparagine-linked glycosylation 8 alpha-13-glucosyltransferase-like proteinasparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)asp
	Modification date	20200313	20200313
	UniProtAcc	Q96I59	Q9BVK2
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000281038, ENST00000528850,	ENST00000532552, ENST00000299626, ENST00000376156,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	19 X 16 X 7=2128	6 X 6 X 8=288
	# samples	22	10
	** MAII score	log2(22/2128*10)=-3.27392272197653 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/288*10)=-1.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: NARS2 [Title/Abstract] AND ALG8 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ALG8(77815026)-NARS2(78204241), # samples:3 NARS2(78270585)-ALG8(77825438), # samples:2
Anticipated loss of major functional domain due to fusion event.	ALG8-NARS2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ALG8-NARS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ALG8-NARS2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.

* 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 NARS2 (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 ALG8 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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-98-8020-01A	NARS2	chr11	78270585	-	ALG8	chr11	77825438	-
ChimerDB4	LUSC	TCGA-98-8020	NARS2	chr11	78270585	-	ALG8	chr11	77825438	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000281038	NARS2	chr11	78270585	-	ENST00000299626	ALG8	chr11	77825438	-	2027	970	295	2004	569
ENST00000281038	NARS2	chr11	78270585	-	ENST00000376156	ALG8	chr11	77825438	-	2097	970	295	1827	510

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
ENST00000281038	ENST00000299626	NARS2	chr11	78270585	-	ALG8	chr11	77825438	-	0.002413537	0.9975865
ENST00000281038	ENST00000376156	NARS2	chr11	78270585	-	ALG8	chr11	77825438	-	0.003789687	0.99621034

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>57267_57267_1_NARS2-ALG8_NARS2_chr11_78270585_ENST00000281038_ALG8_chr11_77825438_ENST00000299626_length(amino acids)=569AA_BP=1
MRKEGRCRRGSNRGVWAAPAEGLGGRGMLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLH
VNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLG
SILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGS
IRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMT
SGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFL
ILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSV

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

>57267_57267_2_NARS2-ALG8_NARS2_chr11_78270585_ENST00000281038_ALG8_chr11_77825438_ENST00000376156_length(amino acids)=510AA_BP=1
MRKEGRCRRGSNRGVWAAPAEGLGGRGMLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLH
VNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLG
SILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGS
IRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMT
SGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFL

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:77815026/chr11:78204241)
- 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
NARS2 Q96I59	ALG8 Q9BVK2
	FUNCTION: Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc(1)Man(9)GlcNAc(2)-PP-Dol before it is transferred to the nascent peptide (By similarity). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity). {ECO:0000250\|UniProtKB:P40351, ECO:0000250\|UniProtKB:Q6P8H8}.

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.

- 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

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

188_208

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

238_258

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

334_354

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

368_388

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

389_409

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

427_449

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

461_481

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

488_508

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

188_208

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

238_258

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

334_354

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

368_388

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

389_409

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

427_449

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

461_481

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

488_508

182.0

516.6666666666666

Transmembrane

Helical

- 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

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

103_122

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

143_163

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000299626

4_24

182.0

527.0

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

103_122

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

143_163

182.0

516.6666666666666

Transmembrane

Helical

Tgene

ALG8

chr11:78270585

chr11:77825438

ENST00000376156

4_24

182.0

516.6666666666666

Transmembrane

Helical

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1218_NARS2_78270585_ALG8_77825438_1218_NARS2_78270585_ALG8_77825438_ranked_0.pdb	NARS2	78270585	78270585	ENST00000376156	ALG8	chr11	77825438	-	MRKEGRCRRGSNRGVWAAPAEGLGGRGMLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLH VNDGSSLESLQVVADSGLDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLG SILRIRSEATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGS IRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLFPFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMT SGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPRGFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFL ILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFRKEKPLFNWMETFYLLGLGPLEVCCEFVFPFTSWKVKYPFIPLLLTSV	569

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

NARS2_pLDDT.png

ALG8_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
NARS2
ALG8

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to NARS2-ALG8

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to NARS2-ALG8

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source