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in Kim Lab

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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:ALG8-NARS2 (FusionGDB2 ID:HG79053TG79731)

Fusion Gene Summary for ALG8-NARS2

check button Fusion gene summary
Fusion gene informationFusion gene name: ALG8-NARS2
Fusion gene ID: hg79053tg79731
HgeneTgene
Gene symbol

ALG8

NARS2

Gene ID

79053

79731

Gene nameALG8 alpha-1,3-glucosyltransferaseasparaginyl-tRNA synthetase 2, mitochondrial
SynonymsCDG1H|PCLD3DFNB94|SLM5|asnRS
Cytomap('ALG8')('NARS2')

11q14.1

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionprobable 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)aspprobable asparagine--tRNA ligase, mitochondrialasparagine tRNA ligase 2, mitochondrial (putative)asparaginyl-tRNA synthetase 2, mitochondrial (putative)deafness, autosomal recessive 94probable asparaginyl-tRNA synthetase, mitochondrial
Modification date2020031320200313
UniProtAcc.

Q96I59

Ensembl transtripts involved in fusion geneENST00000532552, ENST00000376156, 
ENST00000299626, 
ENST00000532552, 
ENST00000299626, ENST00000376156, 
Fusion gene scores* DoF score6 X 7 X 4=16829 X 15 X 11=4785
# samples 737
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(37/4785*10)=-3.69292174885708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALG8 [Title/Abstract] AND NARS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALG8(77815026)-NARS2(78204241), # samples:3
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across ALG8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across NARS2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4BRCATCGA-A2-A0T4-01AALG8chr11

77815026

-NARS2chr11

78204241

-
ChimerDB4BRCATCGA-A2-A0T4ALG8chr11

77815025

-NARS2chr11

78204241

-


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Fusion Gene ORF analysis for ALG8-NARS2

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-3CDSENST00000532552ENST00000281038ALG8chr11

77815026

-NARS2chr11

78204241

-
5UTR-3CDSENST00000532552ENST00000281038ALG8chr11

77815025

-NARS2chr11

78204241

-
5UTR-3CDSENST00000532552ENST00000528850ALG8chr11

77815026

-NARS2chr11

78204241

-
5UTR-3CDSENST00000532552ENST00000528850ALG8chr11

77815025

-NARS2chr11

78204241

-
Frame-shiftENST00000376156ENST00000281038ALG8chr11

77815026

-NARS2chr11

78204241

-
Frame-shiftENST00000376156ENST00000281038ALG8chr11

77815025

-NARS2chr11

78204241

-
Frame-shiftENST00000376156ENST00000528850ALG8chr11

77815026

-NARS2chr11

78204241

-
Frame-shiftENST00000376156ENST00000528850ALG8chr11

77815025

-NARS2chr11

78204241

-
In-frameENST00000299626ENST00000281038ALG8chr11

77815026

-NARS2chr11

78204241

-
In-frameENST00000299626ENST00000281038ALG8chr11

77815025

-NARS2chr11

78204241

-
In-frameENST00000299626ENST00000528850ALG8chr11

77815026

-NARS2chr11

78204241

-
In-frameENST00000299626ENST00000528850ALG8chr11

77815025

-NARS2chr11

78204241

-

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)
ENST00000299626ALG8chr1177815026-ENST00000281038NARS2chr1178204241-28751421722165697
ENST00000299626ALG8chr1177815026-ENST00000528850NARS2chr1178204241-26131421722165697
ENST00000299626ALG8chr1177815025-ENST00000281038NARS2chr1178204241-28751421722165697
ENST00000299626ALG8chr1177815025-ENST00000528850NARS2chr1178204241-26131421722165697

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
ENST00000299626ENST00000281038ALG8chr1177815026-NARS2chr1178204241-0.0011100160.99889
ENST00000299626ENST00000528850ALG8chr1177815026-NARS2chr1178204241-0.0015620250.99843794
ENST00000299626ENST00000281038ALG8chr1177815025-NARS2chr1178204241-0.0011100160.99889
ENST00000299626ENST00000528850ALG8chr1177815025-NARS2chr1178204241-0.0015620250.99843794

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Fusion Genomic Features for ALG8-NARS2


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)

check buttonDistribution 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.
genomic feature

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Fusion Protein Features for ALG8-NARS2


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/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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.NARS2

Q96I59

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
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213103_122449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213143_163449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213188_208449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213238_258449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213334_354449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213368_388449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213389_409449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213427_449449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-12134_24449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214103_122449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214143_163449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214188_208449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214238_258449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214334_354449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214368_388449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214389_409449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214427_449449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-12144_24449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213103_122449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213143_163449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213188_208449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213238_258449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213334_354449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213368_388449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213389_409449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213427_449449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-12134_24449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214103_122449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214143_163449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214188_208449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214238_258449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214334_354449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214368_388449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214389_409449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214427_449449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-12144_24449516.6666666666666TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213461_481449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000299626-1213488_508449527.0TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214461_481449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815025chr11:78204241ENST00000376156-1214488_508449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213461_481449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000299626-1213488_508449527.0TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214461_481449516.6666666666666TransmembraneHelical
HgeneALG8chr11:77815026chr11:78204241ENST00000376156-1214488_508449516.6666666666666TransmembraneHelical


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Fusion Gene Sequence for ALG8-NARS2


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.
>4037_4037_1_ALG8-NARS2_ALG8_chr11_77815025_ENST00000299626_NARS2_chr11_78204241_ENST00000281038_length(transcript)=2875nt_BP=1421nt
AGAGGGCTTTCTCCGCATGCGCGGGATCCCGGATGTGGATCAAGTTGGTGGGAAGCGTGCGGTGCCGCAGCAATGGCGGCGCTCACAATT
GCCACGGGTACTGGCAATTGGTTTTCGGCTTTGGCGCTCGGGGTGACTCTTCTCAAATGCCTTCTCATCCCCACATACCATTCCACAGAT
TTTGAAGTACACCGAAACTGGCTTGCTATCACTCACAGTTTGCCAATATCACAGTGGTATTATGAGGCAACTTCAGAGTGGACGTTGGAT
TACCCCCCTTTCTTTGCATGGTTTGAGTATATCCTGTCACATGTTGCCAAATATTTTGATCAAGAAATGCTGAATGTCCATAATTTGAAT
TACTCCAGCTCAAGGACCTTACTTTTCCAGAGATTTTCCGTCATCTTTATGGATGTACTCTTTGTGTATGCTGTCCGTGAGTGCTGTAAA
TGCATTGATGGAAAAAAAGTGGGTAAAGAACTTACAGAAAAGCCAAAATTTATTCTGTCGGTATTACTTCTGTGGAACTTCGGGTTATTA
ATTGTGGACCATATTCATTTTCAGTACAATGGCTTTTTATTTGGATTAATGCTACTCTCCATTGCACGATTATTTCAGAAAAGGCATATG
GAAGGAGCATTTCTCTTTGCTGTTCTCCTACATTTCAAGCATATCTACCTCTATGTAGCACCAGCTTATGGTGTATATCTGCTGCGATCC
TACTGTTTCACTGCAAATAAACCAGATGGGTCTATTCGATGGAAGAGTTTCAGCTTTGTTCGTGTTATTTCCCTGGGACTGGTTGTTTTC
TTAGTTTCTGCTCTTTCATTGGGTCCTTTCCTGGCCTTGAATCAGCTGCCTCAAGTCTTTTCCCGACTCTTTCCTTTCAAGAGGGGCCTC
TGTCATGCATATTGGGCTCCAAACTTCTGGGCTTTGTACAATGCTTTGGACAAAGTGCTGTCTGTCATCGGTTTGAAATTGAAATTTCTT
GATCCCAACAATATTCCCAAGGCCTCAATGACAAGTGGTTTGGTTCAGCAGTTCCAACACACAGTCCTTCCCTCAGTGACTCCCTTGGCA
ACCCTCATCTGCACACTGATTGCCATATTGCCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTA
ACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATGAGCCTTTTGTCT
GTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAGAA
CTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAGAGCTTTTACTCAAGTGTTT
ACCTTTGGTCCGACCTTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACCTGGCAGAGTTTTATATGATAGAAGCAGAGATTTCTTTTGTT
GACAGCCTTCAAGATCTTATGCAGGTTATAGAGGAACTGTTCAAGGCTACAACAATGATGGTTCTCTCAAAATGTCCTGAAGATGTTGAA
CTCTGTCACAAATTCATAGCACCTGGCCAAAAGGACAGATTAGAACATATGCTAAAAAACAACTTTTTAATCATTTCTTATACTGAAGCA
GTGGAGATCTTAAAGCAAGCATCCCAGAACTTCACCTTTACCCCAGAGTGGGGTGCTGACCTACGGACTGAACATGAAAAGTACCTGGTG
AAGCACTGTGGCAACATACCTGTCTTCGTTATTAATTATCCATTAACACTCAAGCCTTTCTACATGAGGGATAATGAAGATGGCCCTCAG
CACACGGTTGCTGCTGTTGATCTTCTGGTTCCTGGAGTTGGGGAACTCTTTGGAGGAGGCCTCAGAGAAGAACGATACCATTTCTTAGAG
GAGCGCTTAGCCAGATCGGGACTTACAGAAGTCTACCAATGGTATCTGGACCTTCGTCGATTTGGATCTGTGCCACATGGAGGTTTTGGG
ATGGGATTTGAACGCTACCTGCAGTGCATCTTGGGTGTTGACAATATCAAAGATGTTATCCCTTTCCCAAGGTTTCCTCATTCATGCCTT
TTATAGCTGGAAGATTGGTTAAGGAAAAGCACCCCCCATGGCAGAGACACTGCACATGATTGTGCATACAGCAGAATGCATGTTTGGATT
TTAGAAATGCAGATTTCAATATGTAATTGTTGTGCCATAAGATATCATAGAAAAAATATAAGTGGTTGTGATTTTCTTAGAAAGTTGAGG
GTATTTCACGTAAGGATGAGCTCCCGCAAGAAGAGGTACTTATAGCAAGGGGACTCTCAAATCCATTACCTCAATTAAGAAATGAAGAAA
TTGAATTAGTCTCAAAGTTTCTTTTAAACTCTAAAACAGAATGAGATAATGTATTTTACGTTGTCTATAATCATTAAATCACTCCCTGTG
TAATTTGTGAGAACCATCTAGTAGCTCGAAATAAAATAATGTTGCATCTTTTCTCCCTTGCCATATACTTTGTGATAAATCCTTATCTCA
TTTTCAGTACTTCATTAAACATTGCAGAAAAAAATATTCCTTAAGGTCTTAATTGATTTAAAGAAGTAGCTATTCTGAATTGAAATCTCC
TTTCATTGAACTGGATGAAAAAATCATGTTTAATAACTGTTGCTTTTCAATTTTCAAAGCTGTTGAGATATTACATTAAGTATTTCAACT

>4037_4037_1_ALG8-NARS2_ALG8_chr11_77815025_ENST00000299626_NARS2_chr11_78204241_ENST00000281038_length(amino acids)=697AA_BP=449
MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPFFAWFEYILSHVAKYFDQEML
NVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARL
FQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLF
PFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPR
GFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFR
AFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREE

--------------------------------------------------------------
>4037_4037_2_ALG8-NARS2_ALG8_chr11_77815025_ENST00000299626_NARS2_chr11_78204241_ENST00000528850_length(transcript)=2613nt_BP=1421nt
AGAGGGCTTTCTCCGCATGCGCGGGATCCCGGATGTGGATCAAGTTGGTGGGAAGCGTGCGGTGCCGCAGCAATGGCGGCGCTCACAATT
GCCACGGGTACTGGCAATTGGTTTTCGGCTTTGGCGCTCGGGGTGACTCTTCTCAAATGCCTTCTCATCCCCACATACCATTCCACAGAT
TTTGAAGTACACCGAAACTGGCTTGCTATCACTCACAGTTTGCCAATATCACAGTGGTATTATGAGGCAACTTCAGAGTGGACGTTGGAT
TACCCCCCTTTCTTTGCATGGTTTGAGTATATCCTGTCACATGTTGCCAAATATTTTGATCAAGAAATGCTGAATGTCCATAATTTGAAT
TACTCCAGCTCAAGGACCTTACTTTTCCAGAGATTTTCCGTCATCTTTATGGATGTACTCTTTGTGTATGCTGTCCGTGAGTGCTGTAAA
TGCATTGATGGAAAAAAAGTGGGTAAAGAACTTACAGAAAAGCCAAAATTTATTCTGTCGGTATTACTTCTGTGGAACTTCGGGTTATTA
ATTGTGGACCATATTCATTTTCAGTACAATGGCTTTTTATTTGGATTAATGCTACTCTCCATTGCACGATTATTTCAGAAAAGGCATATG
GAAGGAGCATTTCTCTTTGCTGTTCTCCTACATTTCAAGCATATCTACCTCTATGTAGCACCAGCTTATGGTGTATATCTGCTGCGATCC
TACTGTTTCACTGCAAATAAACCAGATGGGTCTATTCGATGGAAGAGTTTCAGCTTTGTTCGTGTTATTTCCCTGGGACTGGTTGTTTTC
TTAGTTTCTGCTCTTTCATTGGGTCCTTTCCTGGCCTTGAATCAGCTGCCTCAAGTCTTTTCCCGACTCTTTCCTTTCAAGAGGGGCCTC
TGTCATGCATATTGGGCTCCAAACTTCTGGGCTTTGTACAATGCTTTGGACAAAGTGCTGTCTGTCATCGGTTTGAAATTGAAATTTCTT
GATCCCAACAATATTCCCAAGGCCTCAATGACAAGTGGTTTGGTTCAGCAGTTCCAACACACAGTCCTTCCCTCAGTGACTCCCTTGGCA
ACCCTCATCTGCACACTGATTGCCATATTGCCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTA
ACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATGAGCCTTTTGTCT
GTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAGAA
CTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAGAGCTTTTACTCAAGTGTTT
ACCTTTGGTCCGACCTTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACCTGGCAGAGTTTTATATGATAGAAGCAGAGATTTCTTTTGTT
GACAGCCTTCAAGATCTTATGCAGGTTATAGAGGAACTGTTCAAGGCTACAACAATGATGGTTCTCTCAAAATGTCCTGAAGATGTTGAA
CTCTGTCACAAATTCATAGCACCTGGCCAAAAGGACAGATTAGAACATATGCTAAAAAACAACTTTTTAATCATTTCTTATACTGAAGCA
GTGGAGATCTTAAAGCAAGCATCCCAGAACTTCACCTTTACCCCAGAGTGGGGTGCTGACCTACGGACTGAACATGAAAAGTACCTGGTG
AAGCACTGTGGCAACATACCTGTCTTCGTTATTAATTATCCATTAACACTCAAGCCTTTCTACATGAGGGATAATGAAGATGGCCCTCAG
CACACGGTTGCTGCTGTTGATCTTCTGGTTCCTGGAGTTGGGGAACTCTTTGGAGGAGGCCTCAGAGAAGAACGATACCATTTCTTAGAG
GAGCGCTTAGCCAGATCGGGACTTACAGAAGTCTACCAATGGTATCTGGACCTTCGTCGATTTGGATCTGTGCCACATGGAGGTTTTGGG
ATGGGATTTGAACGCTACCTGCAGTGCATCTTGGGTGTTGACAATATCAAAGATGTTATCCCTTTCCCAAGGTTTCCTCATTCATGCCTT
TTATAGCTGGAAGATTGGTTAAGGAAAAGCACCCCCCATGGCAGAGACACTGCACATGATTGTGCATACAGCAGAATGCATGTTTGGATT
TTAGAAATGCAGATTTCAATATGTAATTGTTGTGCCATAAGATATCATAGAAAAAATATAAGTGGTTGTGATTTTCTTAGAAAGTTGAGG
GTATTTCACGTAAGGATGAGCTCCCGCAAGAAGAGGTACTTATAGCAAGGGGACTCTCAAATCCATTACCTCAATTAAGAAATGAAGAAA
TTGAATTAGTCTCAAAGTTTCTTTTAAACTCTAAAACAGAATGAGATAATGTATTTTACGTTGTCTATAATCATTAAATCACTCCCTGTG
TAATTTGTGAGAACCATCTAGTAGCTCGAAATAAAATAATGTTGCATCTTTTCTCCCTTGCCATATACTTTGTGATAAATCCTTATCTCA

>4037_4037_2_ALG8-NARS2_ALG8_chr11_77815025_ENST00000299626_NARS2_chr11_78204241_ENST00000528850_length(amino acids)=697AA_BP=449
MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPFFAWFEYILSHVAKYFDQEML
NVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARL
FQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLF
PFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPR
GFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFR
AFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREE

--------------------------------------------------------------
>4037_4037_3_ALG8-NARS2_ALG8_chr11_77815026_ENST00000299626_NARS2_chr11_78204241_ENST00000281038_length(transcript)=2875nt_BP=1421nt
AGAGGGCTTTCTCCGCATGCGCGGGATCCCGGATGTGGATCAAGTTGGTGGGAAGCGTGCGGTGCCGCAGCAATGGCGGCGCTCACAATT
GCCACGGGTACTGGCAATTGGTTTTCGGCTTTGGCGCTCGGGGTGACTCTTCTCAAATGCCTTCTCATCCCCACATACCATTCCACAGAT
TTTGAAGTACACCGAAACTGGCTTGCTATCACTCACAGTTTGCCAATATCACAGTGGTATTATGAGGCAACTTCAGAGTGGACGTTGGAT
TACCCCCCTTTCTTTGCATGGTTTGAGTATATCCTGTCACATGTTGCCAAATATTTTGATCAAGAAATGCTGAATGTCCATAATTTGAAT
TACTCCAGCTCAAGGACCTTACTTTTCCAGAGATTTTCCGTCATCTTTATGGATGTACTCTTTGTGTATGCTGTCCGTGAGTGCTGTAAA
TGCATTGATGGAAAAAAAGTGGGTAAAGAACTTACAGAAAAGCCAAAATTTATTCTGTCGGTATTACTTCTGTGGAACTTCGGGTTATTA
ATTGTGGACCATATTCATTTTCAGTACAATGGCTTTTTATTTGGATTAATGCTACTCTCCATTGCACGATTATTTCAGAAAAGGCATATG
GAAGGAGCATTTCTCTTTGCTGTTCTCCTACATTTCAAGCATATCTACCTCTATGTAGCACCAGCTTATGGTGTATATCTGCTGCGATCC
TACTGTTTCACTGCAAATAAACCAGATGGGTCTATTCGATGGAAGAGTTTCAGCTTTGTTCGTGTTATTTCCCTGGGACTGGTTGTTTTC
TTAGTTTCTGCTCTTTCATTGGGTCCTTTCCTGGCCTTGAATCAGCTGCCTCAAGTCTTTTCCCGACTCTTTCCTTTCAAGAGGGGCCTC
TGTCATGCATATTGGGCTCCAAACTTCTGGGCTTTGTACAATGCTTTGGACAAAGTGCTGTCTGTCATCGGTTTGAAATTGAAATTTCTT
GATCCCAACAATATTCCCAAGGCCTCAATGACAAGTGGTTTGGTTCAGCAGTTCCAACACACAGTCCTTCCCTCAGTGACTCCCTTGGCA
ACCCTCATCTGCACACTGATTGCCATATTGCCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTA
ACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATGAGCCTTTTGTCT
GTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAGAA
CTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAGAGCTTTTACTCAAGTGTTT
ACCTTTGGTCCGACCTTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACCTGGCAGAGTTTTATATGATAGAAGCAGAGATTTCTTTTGTT
GACAGCCTTCAAGATCTTATGCAGGTTATAGAGGAACTGTTCAAGGCTACAACAATGATGGTTCTCTCAAAATGTCCTGAAGATGTTGAA
CTCTGTCACAAATTCATAGCACCTGGCCAAAAGGACAGATTAGAACATATGCTAAAAAACAACTTTTTAATCATTTCTTATACTGAAGCA
GTGGAGATCTTAAAGCAAGCATCCCAGAACTTCACCTTTACCCCAGAGTGGGGTGCTGACCTACGGACTGAACATGAAAAGTACCTGGTG
AAGCACTGTGGCAACATACCTGTCTTCGTTATTAATTATCCATTAACACTCAAGCCTTTCTACATGAGGGATAATGAAGATGGCCCTCAG
CACACGGTTGCTGCTGTTGATCTTCTGGTTCCTGGAGTTGGGGAACTCTTTGGAGGAGGCCTCAGAGAAGAACGATACCATTTCTTAGAG
GAGCGCTTAGCCAGATCGGGACTTACAGAAGTCTACCAATGGTATCTGGACCTTCGTCGATTTGGATCTGTGCCACATGGAGGTTTTGGG
ATGGGATTTGAACGCTACCTGCAGTGCATCTTGGGTGTTGACAATATCAAAGATGTTATCCCTTTCCCAAGGTTTCCTCATTCATGCCTT
TTATAGCTGGAAGATTGGTTAAGGAAAAGCACCCCCCATGGCAGAGACACTGCACATGATTGTGCATACAGCAGAATGCATGTTTGGATT
TTAGAAATGCAGATTTCAATATGTAATTGTTGTGCCATAAGATATCATAGAAAAAATATAAGTGGTTGTGATTTTCTTAGAAAGTTGAGG
GTATTTCACGTAAGGATGAGCTCCCGCAAGAAGAGGTACTTATAGCAAGGGGACTCTCAAATCCATTACCTCAATTAAGAAATGAAGAAA
TTGAATTAGTCTCAAAGTTTCTTTTAAACTCTAAAACAGAATGAGATAATGTATTTTACGTTGTCTATAATCATTAAATCACTCCCTGTG
TAATTTGTGAGAACCATCTAGTAGCTCGAAATAAAATAATGTTGCATCTTTTCTCCCTTGCCATATACTTTGTGATAAATCCTTATCTCA
TTTTCAGTACTTCATTAAACATTGCAGAAAAAAATATTCCTTAAGGTCTTAATTGATTTAAAGAAGTAGCTATTCTGAATTGAAATCTCC
TTTCATTGAACTGGATGAAAAAATCATGTTTAATAACTGTTGCTTTTCAATTTTCAAAGCTGTTGAGATATTACATTAAGTATTTCAACT

>4037_4037_3_ALG8-NARS2_ALG8_chr11_77815026_ENST00000299626_NARS2_chr11_78204241_ENST00000281038_length(amino acids)=697AA_BP=449
MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPFFAWFEYILSHVAKYFDQEML
NVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARL
FQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLF
PFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPR
GFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFR
AFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREE

--------------------------------------------------------------
>4037_4037_4_ALG8-NARS2_ALG8_chr11_77815026_ENST00000299626_NARS2_chr11_78204241_ENST00000528850_length(transcript)=2613nt_BP=1421nt
AGAGGGCTTTCTCCGCATGCGCGGGATCCCGGATGTGGATCAAGTTGGTGGGAAGCGTGCGGTGCCGCAGCAATGGCGGCGCTCACAATT
GCCACGGGTACTGGCAATTGGTTTTCGGCTTTGGCGCTCGGGGTGACTCTTCTCAAATGCCTTCTCATCCCCACATACCATTCCACAGAT
TTTGAAGTACACCGAAACTGGCTTGCTATCACTCACAGTTTGCCAATATCACAGTGGTATTATGAGGCAACTTCAGAGTGGACGTTGGAT
TACCCCCCTTTCTTTGCATGGTTTGAGTATATCCTGTCACATGTTGCCAAATATTTTGATCAAGAAATGCTGAATGTCCATAATTTGAAT
TACTCCAGCTCAAGGACCTTACTTTTCCAGAGATTTTCCGTCATCTTTATGGATGTACTCTTTGTGTATGCTGTCCGTGAGTGCTGTAAA
TGCATTGATGGAAAAAAAGTGGGTAAAGAACTTACAGAAAAGCCAAAATTTATTCTGTCGGTATTACTTCTGTGGAACTTCGGGTTATTA
ATTGTGGACCATATTCATTTTCAGTACAATGGCTTTTTATTTGGATTAATGCTACTCTCCATTGCACGATTATTTCAGAAAAGGCATATG
GAAGGAGCATTTCTCTTTGCTGTTCTCCTACATTTCAAGCATATCTACCTCTATGTAGCACCAGCTTATGGTGTATATCTGCTGCGATCC
TACTGTTTCACTGCAAATAAACCAGATGGGTCTATTCGATGGAAGAGTTTCAGCTTTGTTCGTGTTATTTCCCTGGGACTGGTTGTTTTC
TTAGTTTCTGCTCTTTCATTGGGTCCTTTCCTGGCCTTGAATCAGCTGCCTCAAGTCTTTTCCCGACTCTTTCCTTTCAAGAGGGGCCTC
TGTCATGCATATTGGGCTCCAAACTTCTGGGCTTTGTACAATGCTTTGGACAAAGTGCTGTCTGTCATCGGTTTGAAATTGAAATTTCTT
GATCCCAACAATATTCCCAAGGCCTCAATGACAAGTGGTTTGGTTCAGCAGTTCCAACACACAGTCCTTCCCTCAGTGACTCCCTTGGCA
ACCCTCATCTGCACACTGATTGCCATATTGCCCTCTATTTTCTGTCTTTGGTTTAAACCCCAAGGGCCCAGAGGCTTTCTCCGATGTCTA
ACTCTTTGTGCCTTGAGCTCCTTTATGTTTGGGTGGCATGTTCATGAAAAAGCCATACTTCTAGCAATTCTCCCAATGAGCCTTTTGTCT
GTGGGAAAAGCAGGAGACGCTTCGATTTTTCTGATTCTGACCACAACAGGACATTATTCCCTCTTTCCTCTGCTCTTCACTGCACCAGAA
CTTCCCATTAAAATCTTACTCATGTTACTATTCACCATATATAGTATTTCGTCACTGAAGACTTTATTCAGAGCTTTTACTCAAGTGTTT
ACCTTTGGTCCGACCTTCCGAGCTGAAAATTCTCAGAGCCGGAGGCACCTGGCAGAGTTTTATATGATAGAAGCAGAGATTTCTTTTGTT
GACAGCCTTCAAGATCTTATGCAGGTTATAGAGGAACTGTTCAAGGCTACAACAATGATGGTTCTCTCAAAATGTCCTGAAGATGTTGAA
CTCTGTCACAAATTCATAGCACCTGGCCAAAAGGACAGATTAGAACATATGCTAAAAAACAACTTTTTAATCATTTCTTATACTGAAGCA
GTGGAGATCTTAAAGCAAGCATCCCAGAACTTCACCTTTACCCCAGAGTGGGGTGCTGACCTACGGACTGAACATGAAAAGTACCTGGTG
AAGCACTGTGGCAACATACCTGTCTTCGTTATTAATTATCCATTAACACTCAAGCCTTTCTACATGAGGGATAATGAAGATGGCCCTCAG
CACACGGTTGCTGCTGTTGATCTTCTGGTTCCTGGAGTTGGGGAACTCTTTGGAGGAGGCCTCAGAGAAGAACGATACCATTTCTTAGAG
GAGCGCTTAGCCAGATCGGGACTTACAGAAGTCTACCAATGGTATCTGGACCTTCGTCGATTTGGATCTGTGCCACATGGAGGTTTTGGG
ATGGGATTTGAACGCTACCTGCAGTGCATCTTGGGTGTTGACAATATCAAAGATGTTATCCCTTTCCCAAGGTTTCCTCATTCATGCCTT
TTATAGCTGGAAGATTGGTTAAGGAAAAGCACCCCCCATGGCAGAGACACTGCACATGATTGTGCATACAGCAGAATGCATGTTTGGATT
TTAGAAATGCAGATTTCAATATGTAATTGTTGTGCCATAAGATATCATAGAAAAAATATAAGTGGTTGTGATTTTCTTAGAAAGTTGAGG
GTATTTCACGTAAGGATGAGCTCCCGCAAGAAGAGGTACTTATAGCAAGGGGACTCTCAAATCCATTACCTCAATTAAGAAATGAAGAAA
TTGAATTAGTCTCAAAGTTTCTTTTAAACTCTAAAACAGAATGAGATAATGTATTTTACGTTGTCTATAATCATTAAATCACTCCCTGTG
TAATTTGTGAGAACCATCTAGTAGCTCGAAATAAAATAATGTTGCATCTTTTCTCCCTTGCCATATACTTTGTGATAAATCCTTATCTCA

>4037_4037_4_ALG8-NARS2_ALG8_chr11_77815026_ENST00000299626_NARS2_chr11_78204241_ENST00000528850_length(amino acids)=697AA_BP=449
MAALTIATGTGNWFSALALGVTLLKCLLIPTYHSTDFEVHRNWLAITHSLPISQWYYEATSEWTLDYPPFFAWFEYILSHVAKYFDQEML
NVHNLNYSSSRTLLFQRFSVIFMDVLFVYAVRECCKCIDGKKVGKELTEKPKFILSVLLLWNFGLLIVDHIHFQYNGFLFGLMLLSIARL
FQKRHMEGAFLFAVLLHFKHIYLYVAPAYGVYLLRSYCFTANKPDGSIRWKSFSFVRVISLGLVVFLVSALSLGPFLALNQLPQVFSRLF
PFKRGLCHAYWAPNFWALYNALDKVLSVIGLKLKFLDPNNIPKASMTSGLVQQFQHTVLPSVTPLATLICTLIAILPSIFCLWFKPQGPR
GFLRCLTLCALSSFMFGWHVHEKAILLAILPMSLLSVGKAGDASIFLILTTTGHYSLFPLLFTAPELPIKILLMLLFTIYSISSLKTLFR
AFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVGELFGGGLREE

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

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Fusion Gene PPI Analysis for ALG8-NARS2


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 ALG8-NARS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNARS2Q96I59DB00174AsparagineSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for ALG8-NARS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALG8C2931002Congenital disorder of glycosylation type 1H4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneALG8C0011581Depressive disorder1PSYGENET
HgeneALG8C0158683Polycystic liver disease1GENOMICS_ENGLAND
HgeneALG8C1691228Cystic Kidney Diseases1GENOMICS_ENGLAND
HgeneALG8C4551631Cystic liver disease1GENOMICS_ENGLAND
HgeneALG8C4693472POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS1GENOMICS_ENGLAND
TgeneC4015643COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 243CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0023264Leigh Disease2CLINGEN
TgeneC1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY2CLINGEN
TgeneC1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency2CLINGEN
TgeneC1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency2CLINGEN
TgeneC1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency2CLINGEN
TgeneC1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency2CLINGEN
TgeneC2931891Necrotizing encephalopathy, infantile subacute, of Leigh2CLINGEN
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC3711374Nonsyndromic Deafness1CLINGEN