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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:NVL-LARS2 (FusionGDB2 ID:61186)

Fusion Gene Summary for NVL-LARS2

check button Fusion gene summary
Fusion gene informationFusion gene name: NVL-LARS2
Fusion gene ID: 61186
HgeneTgene
Gene symbol

NVL

LARS2

Gene ID

4931

23395

Gene namenuclear VCP likeleucyl-tRNA synthetase 2, mitochondrial
SynonymsNVL2HLASA|LEURS|PRLTS4|mtLeuRS
Cytomap

1q42.11

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionnuclear valosin-containing protein-likeNVLpprobable leucine--tRNA ligase, mitochondrialleucine tRNA ligase 2, mitochondrialleucine tRNA ligase 2, mitocondrialleucine translaseprobable leucyl-tRNA synthetase, mitochondrial
Modification date2020031320200313
UniProtAcc.

Q15031

Ensembl transtripts involved in fusion geneENST00000281701, ENST00000340871, 
ENST00000361463, ENST00000391875, 
ENST00000469075, ENST00000482491, 
ENST00000468673, 		ENST00000467936, 
ENST00000265537, ENST00000414984, 
ENST00000415258, 
Fusion gene scores* DoF score11 X 11 X 8=9685 X 7 X 6=210
# samples 127
** MAII scorelog2(12/968*10)=-3.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NVL [Title/Abstract] AND LARS2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNVL(224492736)-LARS2(45583321), # samples:1
Anticipated loss of major functional domain due to fusion event.NVL-LARS2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NVL-LARS2 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
HgeneNVL

GO:0006364

rRNA processing

29107693

HgeneNVL

GO:0032092

positive regulation of protein binding

29107693

HgeneNVL

GO:0042273

ribosomal large subunit biogenesis

26166824

HgeneNVL

GO:1904749

regulation of protein localization to nucleolus

29107693

TgeneLARS2

GO:0006429

leucyl-tRNA aminoacylation

10684970


check buttonFusion gene breakpoints across NVL (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 LARS2 (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 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-BL-A0C8-01ANVLchr1

224492736

-LARS2chr3

45583321

+


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Fusion Gene ORF analysis for NVL-LARS2

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
5CDS-intronENST00000281701ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+
5CDS-intronENST00000340871ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+
5CDS-intronENST00000361463ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+
5CDS-intronENST00000391875ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+
5CDS-intronENST00000469075ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+
5UTR-3CDSENST00000482491ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
5UTR-3CDSENST00000482491ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
5UTR-3CDSENST00000482491ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
5UTR-intronENST00000482491ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+
Frame-shiftENST00000340871ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
Frame-shiftENST00000340871ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
Frame-shiftENST00000340871ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
Frame-shiftENST00000361463ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
Frame-shiftENST00000361463ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
Frame-shiftENST00000361463ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000281701ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000281701ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000281701ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000391875ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000391875ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000391875ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000469075ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000469075ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
In-frameENST00000469075ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
intron-3CDSENST00000468673ENST00000265537NVLchr1

224492736

-LARS2chr3

45583321

+
intron-3CDSENST00000468673ENST00000414984NVLchr1

224492736

-LARS2chr3

45583321

+
intron-3CDSENST00000468673ENST00000415258NVLchr1

224492736

-LARS2chr3

45583321

+
intron-intronENST00000468673ENST00000467936NVLchr1

224492736

-LARS2chr3

45583321

+

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)
ENST00000391875NVLchr1224492736-ENST00000265537LARS2chr345583321+2332717561024322
ENST00000391875NVLchr1224492736-ENST00000415258LARS2chr345583321+2916717561024322
ENST00000391875NVLchr1224492736-ENST00000414984LARS2chr345583321+1104717561024322
ENST00000281701NVLchr1224492736-ENST00000265537LARS2chr345583321+262310082241315363
ENST00000281701NVLchr1224492736-ENST00000415258LARS2chr345583321+320710082241315363
ENST00000281701NVLchr1224492736-ENST00000414984LARS2chr345583321+139510082241315363
ENST00000469075NVLchr1224492736-ENST00000265537LARS2chr345583321+210148611793260
ENST00000469075NVLchr1224492736-ENST00000415258LARS2chr345583321+268548611793260
ENST00000469075NVLchr1224492736-ENST00000414984LARS2chr345583321+87348611793260

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
ENST00000391875ENST00000265537NVLchr1224492736-LARS2chr345583321+0.0031836650.99681634
ENST00000391875ENST00000415258NVLchr1224492736-LARS2chr345583321+0.0015980040.99840206
ENST00000391875ENST00000414984NVLchr1224492736-LARS2chr345583321+0.0033060620.99669397
ENST00000281701ENST00000265537NVLchr1224492736-LARS2chr345583321+0.0020616910.99793833
ENST00000281701ENST00000415258NVLchr1224492736-LARS2chr345583321+0.00127230.99872774
ENST00000281701ENST00000414984NVLchr1224492736-LARS2chr345583321+0.0021725910.99782735
ENST00000469075ENST00000265537NVLchr1224492736-LARS2chr345583321+0.0016231330.99837685
ENST00000469075ENST00000415258NVLchr1224492736-LARS2chr345583321+0.0009590210.9990409
ENST00000469075ENST00000414984NVLchr1224492736-LARS2chr345583321+0.0014580570.99854195

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Fusion Genomic Features for NVL-LARS2


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)
NVLchr1224492735-LARS2chr345583320+9.24E-070.99999905
NVLchr1224492735-LARS2chr345583320+9.24E-070.99999905

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

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 NVL-LARS2


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/chr1:224492736/chr3:45583321)
- 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
.LARS2

Q15031

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
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-723218_232249857.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-72349_52249857.0MotifNucleolar localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-72385_88249857.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-62249_52143751.0MotifNucleolar localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-62285_88143751.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-62249_52158766.0MotifNucleolar localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-62285_88158766.0MotifNuclear localization signal

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-421218_23233668.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-42149_5233668.0MotifNucleolar localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-42185_8833668.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-622218_232143751.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-622218_232158766.0MotifNuclear localization signal
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-723305_312249857.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-723622_629249857.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-421305_31233668.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-421622_62933668.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-622305_312143751.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-622622_629143751.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-622305_312158766.0Nucleotide bindingATP
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-622622_629158766.0Nucleotide bindingATP
TgeneLARS2chr1:224492736chr3:45583321ENST000002655371922639_643801904.0MotifNote='KMSKS' region
TgeneLARS2chr1:224492736chr3:45583321ENST00000265537192292_102801904.0MotifNote='HIGH' region
TgeneLARS2chr1:224492736chr3:45583321ENST000004152581821639_643801904.0MotifNote='KMSKS' region
TgeneLARS2chr1:224492736chr3:45583321ENST00000415258182192_102801904.0MotifNote='HIGH' region


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Fusion Gene Sequence for NVL-LARS2


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.
>61186_61186_1_NVL-LARS2_NVL_chr1_224492736_ENST00000281701_LARS2_chr3_45583321_ENST00000265537_length(transcript)=2623nt_BP=1008nt
AATCTTCCAGGGTCCACTGGGCAGGCCTGCAAAATAAGGCCCCTAGAAACTCCCTGAGGTTTTCAAGTCTTCTCCCTCTCCTCGGAATTT
TTTCCCCTTCATTCGCATTACTTTTATTCTGACGGAAACGGCGCGGGCTAGGCCCCAGGAGGGGCGCATTTCAGGTGCAACTGGCCCGGC
GATCGCGGCGGGCAACCCCTACGAGGCCCCCGGTTGACTAGGAGCTGGCGGTCCGAGCTGTGGCTTGGAAGACCGACGCGATGAAGCCCA
GACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCGAGTCATCCAGTACCTTACCAGTAACAAATGTGGCAAATATGTGGACATTGGAG
TCTTAGCGTCTGATTTACAAAGAGTGTACAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGATTCAGGTAGAAAAAGTATTTA
GCATAATTAGTAGTGAGAAGGAACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGGCAAGACAAGGTGAAGAGGATA
ATGAGTATACTGAAAGCTATTCTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGTCAGCAAATCACATGAACAGTTCCCTGC
TGTCTTTATATCGGAAAGGAAATCCTGATTCTGTTTCAAATACTCCTGAGATGGAGCAAAGAGAAACCACCTCTTCAACACCACGGATAA
GTTCCAAAACAGGCTCCATTCCCTTGAAGACCCCTGCCAAAGATTCTGAAGGAGGATGGTTTATTGACAAAACCCCAAGTGTAAAGAAAG
ACAGTTTTTTCTTGGACCTGTCATGTGAGAAAAGTAATCCTAAGAAGCCAATAACTGAGATACAGGATTCAAAAGATTCTTCTCTTTTGG
AGAGTGATATGAAACGGAAAGGCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAGTAGATGGAGAAATTGAAG
CTGTCCTGCAAAAGAAAGGCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTGCTGCTCCAGGCATGGC
CTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTTGTGGCAAAATTCCTGTGC
CCCAACAAGTTGCCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTGCAAGGACGAAGCATCA
AGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCAGCTACCACGAGGGCCTCT
GAGGAACCTCCTTCCAGGCCTGGGATGAGGGGGCGATGTCTGCTGGCCCAGGGGAAGGGAAAAGACAAATGTCTTGACTGTTGACCTCGG
TCCTGTGGCAGACTGCAGTCAACAGTGTGCCTCTGTAGTGTGGCCTGGTGCTGGGGTGAAGGTGAGCTGGGCAAAGGAGAAATATGAGCT
ACTGAGGAGGGGGTTGGACATCCTGCCCCTCACCCCCCACCCACACTGCAGGTAGAGGAGGCCATCTGATCCCATGGGAAGCCATCAGAG
ACACTGCTGGTGGGAGCAGGAAGGAGCAGTGCCCCTCGAGCAGCCAGGAAGCCTGCGGATCTGGGAAATGGCTCTGCCTTAGGCACTTCT
CGGGAATTTGAGGCCAGCCTGAGGAACTGCAGGACTCAGGTGCAATGTGCCAGCCACTTGGAACTGCTAACTGAGCCTCCAGATGGTAGT
GAATGGTCTCTTTGCCTTCAGGCTGGATGAGGAAGTCATTTAGGAAATGTTCAAATAACCAATATGTGGAAATGGACACAGGGATCTTCT
GAAGTTGCTTTGAATCAAAAGGCAGGCAGTGCTGGTTCCTCTGCCTGTGTCCCCACCACTCCCCAGCTCTGTCATGCAGGCCTGTCCTCC
CCAACCCCAGCTGGATGTGCCTCCCAGGCCTGCTGTGGTTCTGACACACAGGATCCCAGGCAAGGCACCACTTCCTCACATGAATGAGGA
GCAGCAAGTCATAACCACTCCCTTGGGTATACAATTTGCTGTGTAGTGAAGTGGAACCAGGCTCAGGCTGCTGGTCCCAACCTCAGAGCC
CCACCGCAGCCCAGTAGGGATGCAGCACGCCCCAGAGGGCTCATGTGGGCCCCAGATGGCAATGCCACCATTGTTGATGTGACTCCAGAG
CCAGTTATTAGGAAGAGCAAGCTCACCACAGAGGAGTGGAACTGAGGCCCCCCAGATGTTGCCTCCGGTGTCCAAGCCACAGCGGTCTGG
CTGTTGGGAAGATGGCCAGGAATGGACTCATACCATTGGCACATTAGGCTAATCCTGGTTTTATGTGAAGTCAGCAATTAAGTGTTCCCA
CTAGAACTGACCTAAGCCACTGATTAATATTTAATGAGGGAAGGTAGGGGAGAATCTAGCCATTTTATAATGCCAGAAATCTATATATGT
TATCTGATGCCATTTTTCTGAAGTAGCCTCACATGTGGTCCCCCTGCAGTTCAGCAGTTAACAGATGACTTTTTTAGTGTAATAAAATGT

>61186_61186_1_NVL-LARS2_NVL_chr1_224492736_ENST00000281701_LARS2_chr3_45583321_ENST00000265537_length(amino acids)=363AA_BP=261
MAVRAVAWKTDAMKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTEL
EDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHMNSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKD
SEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKL
CAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFL

--------------------------------------------------------------
>61186_61186_2_NVL-LARS2_NVL_chr1_224492736_ENST00000281701_LARS2_chr3_45583321_ENST00000414984_length(transcript)=1395nt_BP=1008nt
AATCTTCCAGGGTCCACTGGGCAGGCCTGCAAAATAAGGCCCCTAGAAACTCCCTGAGGTTTTCAAGTCTTCTCCCTCTCCTCGGAATTT
TTTCCCCTTCATTCGCATTACTTTTATTCTGACGGAAACGGCGCGGGCTAGGCCCCAGGAGGGGCGCATTTCAGGTGCAACTGGCCCGGC
GATCGCGGCGGGCAACCCCTACGAGGCCCCCGGTTGACTAGGAGCTGGCGGTCCGAGCTGTGGCTTGGAAGACCGACGCGATGAAGCCCA
GACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCGAGTCATCCAGTACCTTACCAGTAACAAATGTGGCAAATATGTGGACATTGGAG
TCTTAGCGTCTGATTTACAAAGAGTGTACAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGATTCAGGTAGAAAAAGTATTTA
GCATAATTAGTAGTGAGAAGGAACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGGCAAGACAAGGTGAAGAGGATA
ATGAGTATACTGAAAGCTATTCTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGTCAGCAAATCACATGAACAGTTCCCTGC
TGTCTTTATATCGGAAAGGAAATCCTGATTCTGTTTCAAATACTCCTGAGATGGAGCAAAGAGAAACCACCTCTTCAACACCACGGATAA
GTTCCAAAACAGGCTCCATTCCCTTGAAGACCCCTGCCAAAGATTCTGAAGGAGGATGGTTTATTGACAAAACCCCAAGTGTAAAGAAAG
ACAGTTTTTTCTTGGACCTGTCATGTGAGAAAAGTAATCCTAAGAAGCCAATAACTGAGATACAGGATTCAAAAGATTCTTCTCTTTTGG
AGAGTGATATGAAACGGAAAGGCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAGTAGATGGAGAAATTGAAG
CTGTCCTGCAAAAGAAAGGCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTGCTGCTCCAGGCATGGC
CTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTTGTGGCAAAATTCCTGTGC
CCCAACAAGTTGCCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTGCAAGGACGAAGCATCA
AGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCAGCTACCACGAGGGCCTCT

>61186_61186_2_NVL-LARS2_NVL_chr1_224492736_ENST00000281701_LARS2_chr3_45583321_ENST00000414984_length(amino acids)=363AA_BP=261
MAVRAVAWKTDAMKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTEL
EDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHMNSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKD
SEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKL
CAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFL

--------------------------------------------------------------
>61186_61186_3_NVL-LARS2_NVL_chr1_224492736_ENST00000281701_LARS2_chr3_45583321_ENST00000415258_length(transcript)=3207nt_BP=1008nt
AATCTTCCAGGGTCCACTGGGCAGGCCTGCAAAATAAGGCCCCTAGAAACTCCCTGAGGTTTTCAAGTCTTCTCCCTCTCCTCGGAATTT
TTTCCCCTTCATTCGCATTACTTTTATTCTGACGGAAACGGCGCGGGCTAGGCCCCAGGAGGGGCGCATTTCAGGTGCAACTGGCCCGGC
GATCGCGGCGGGCAACCCCTACGAGGCCCCCGGTTGACTAGGAGCTGGCGGTCCGAGCTGTGGCTTGGAAGACCGACGCGATGAAGCCCA
GACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCGAGTCATCCAGTACCTTACCAGTAACAAATGTGGCAAATATGTGGACATTGGAG
TCTTAGCGTCTGATTTACAAAGAGTGTACAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGATTCAGGTAGAAAAAGTATTTA
GCATAATTAGTAGTGAGAAGGAACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGGCAAGACAAGGTGAAGAGGATA
ATGAGTATACTGAAAGCTATTCTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGTCAGCAAATCACATGAACAGTTCCCTGC
TGTCTTTATATCGGAAAGGAAATCCTGATTCTGTTTCAAATACTCCTGAGATGGAGCAAAGAGAAACCACCTCTTCAACACCACGGATAA
GTTCCAAAACAGGCTCCATTCCCTTGAAGACCCCTGCCAAAGATTCTGAAGGAGGATGGTTTATTGACAAAACCCCAAGTGTAAAGAAAG
ACAGTTTTTTCTTGGACCTGTCATGTGAGAAAAGTAATCCTAAGAAGCCAATAACTGAGATACAGGATTCAAAAGATTCTTCTCTTTTGG
AGAGTGATATGAAACGGAAAGGCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAGTAGATGGAGAAATTGAAG
CTGTCCTGCAAAAGAAAGGCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTGCTGCTCCAGGCATGGC
CTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTTGTGGCAAAATTCCTGTGC
CCCAACAAGTTGCCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTGCAAGGACGAAGCATCA
AGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCAGCTACCACGAGGGCCTCT
GAGGAACCTCCTTCCAGGCCTGGGATGAGGGGGCGATGTCTGCTGGCCCAGGGGAAGGGAAAAGACAAATGTCTTGACTGTTGACCTCGG
TCCTGTGGCAGACTGCAGTCAACAGTGTGCCTCTGTAGTGTGGCCTGGTGCTGGGGTGAAGGTGAGCTGGGCAAAGGAGAAATATGAGCT
ACTGAGGAGGGGGTTGGACATCCTGCCCCTCACCCCCCACCCACACTGCAGGTAGAGGAGGCCATCTGATCCCATGGGAAGCCATCAGAG
ACACTGCTGGTGGGAGCAGGAAGGAGCAGTGCCCCTCGAGCAGCCAGGAAGCCTGCGGATCTGGGAAATGGCTCTGCCTTAGGCACTTCT
CGGGAATTTGAGGCCAGCCTGAGGAACTGCAGGACTCAGGTGCAATGTGCCAGCCACTTGGAACTGCTAACTGAGCCTCCAGATGGTAGT
GAATGGTCTCTTTGCCTTCAGGCTGGATGAGGAAGTCATTTAGGAAATGTTCAAATAACCAATATGTGGAAATGGACACAGGGATCTTCT
GAAGTTGCTTTGAATCAAAAGGCAGGCAGTGCTGGTTCCTCTGCCTGTGTCCCCACCACTCCCCAGCTCTGTCATGCAGGCCTGTCCTCC
CCAACCCCAGCTGGATGTGCCTCCCAGGCCTGCTGTGGTTCTGACACACAGGATCCCAGGCAAGGCACCACTTCCTCACATGAATGAGGA
GCAGCAAGTCATAACCACTCCCTTGGGTATACAATTTGCTGTGTAGTGAAGTGGAACCAGGCTCAGGCTGCTGGTCCCAACCTCAGAGCC
CCACCGCAGCCCAGTAGGGATGCAGCACGCCCCAGAGGGCTCATGTGGGCCCCAGATGGCAATGCCACCATTGTTGATGTGACTCCAGAG
CCAGTTATTAGGAAGAGCAAGCTCACCACAGAGGAGTGGAACTGAGGCCCCCCAGATGTTGCCTCCGGTGTCCAAGCCACAGCGGTCTGG
CTGTTGGGAAGATGGCCAGGAATGGACTCATACCATTGGCACATTAGGCTAATCCTGGTTTTATGTGAAGTCAGCAATTAAGTGTTCCCA
CTAGAACTGACCTAAGCCACTGATTAATATTTAATGAGGGAAGGTAGGGGAGAATCTAGCCATTTTATAATGCCAGAAATCTATATATGT
TATCTGATGCCATTTTTCTGAAGTAGCCTCACATGTGGTCCCCCTGCAGTTCAGCAGTTAACAGATGACTTTTTTAGTGTAATAAAATGT
TTATCATCTATGACTTCAGGACATATGTGTGATCCTGGAATACACCATATTCCAATTTCAGAGTTAATTACAAACAGATTGAGGTATTCC
ATCATCATCGGAAGCATTGGCTGTGTGTCTGACTCCACATGGAATGCTATAAAGTGGGATACATGTGGTTCTTCTTGTTCCAGAACTTAC
AGTCCATGGTAGACAACACTGATACAGGCAAACTAGCAACAGCAATTAAGTCACTGGTTCTCAGACTTAATACTCTGCCTGGTCCTCATG
CCCAGATATTCCAATTTAATTGGTCCATGGTGTGGCTTGAACACCAGGAATCTTTAAAACTCCACAAGTGATTCTAATGGGCAGCAAAGT
TTGAGAATCACTGGACACATTGATGCACTTGAGCCATCATTTCTATCTAGTTCTTCCTCTTCCTAATCTTCAGGTTAGCGGGGATAAGTT
TGGTCCAGGACCAAGAGTTGGACCAAAAGGGAAGACAGGGGCCAGAAGTCTAGAGTGCTAGAGCCGACTTGAATGTACTCAGTCTCATTG

>61186_61186_3_NVL-LARS2_NVL_chr1_224492736_ENST00000281701_LARS2_chr3_45583321_ENST00000415258_length(amino acids)=363AA_BP=261
MAVRAVAWKTDAMKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTEL
EDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHMNSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKD
SEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKL
CAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFL

--------------------------------------------------------------
>61186_61186_4_NVL-LARS2_NVL_chr1_224492736_ENST00000391875_LARS2_chr3_45583321_ENST00000265537_length(transcript)=2332nt_BP=717nt
CTAGGAGCTGGCGGTCCGAGCTGTGGCTTGGAAGACCGACGCGATGAAGCCCAGACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCG
AGTCATCCAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGATTCAGGTAGAAAAAGTATTTAGCATAATTAGTAGTGAGAAGG
AACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGGCAAGACAAGGTGAAGAGGATAATGAGTATACTGAAAGCTATT
CTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGTCAGCAAATCACATGAACAGTTCCCTGCTGTCTTTATATCGGAAAGGAA
ATCCTGATTCTGTTTCAAATACTCCTGAGATGGAGCAAAGAGAAACCACCTCTTCAACACCACGGATAAGTTCCAAAACAGGCTCCATTC
CCTTGAAGACCCCTGCCAAAGATTCTGAAGGAGGATGGTTTATTGACAAAACCCCAAGTGTAAAGAAAGACAGTTTTTTCTTGGACCTGT
CATGTGAGAAAAGTAATCCTAAGAAGCCAATAACTGAGATACAGGATTCAAAAGATTCTTCTCTTTTGGAGAGTGATATGAAACGGAAAG
GCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAGTAGATGGAGAAATTGAAGCTGTCCTGCAAAAGAAAGGCC
TGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTGCTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCC
TGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTTGTGGCAAAATTCCTGTGCCCCAACAAGTTGCCCGGGACC
AGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTGCAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGA
GAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCAGCTACCACGAGGGCCTCTGAGGAACCTCCTTCCAGGCCT
GGGATGAGGGGGCGATGTCTGCTGGCCCAGGGGAAGGGAAAAGACAAATGTCTTGACTGTTGACCTCGGTCCTGTGGCAGACTGCAGTCA
ACAGTGTGCCTCTGTAGTGTGGCCTGGTGCTGGGGTGAAGGTGAGCTGGGCAAAGGAGAAATATGAGCTACTGAGGAGGGGGTTGGACAT
CCTGCCCCTCACCCCCCACCCACACTGCAGGTAGAGGAGGCCATCTGATCCCATGGGAAGCCATCAGAGACACTGCTGGTGGGAGCAGGA
AGGAGCAGTGCCCCTCGAGCAGCCAGGAAGCCTGCGGATCTGGGAAATGGCTCTGCCTTAGGCACTTCTCGGGAATTTGAGGCCAGCCTG
AGGAACTGCAGGACTCAGGTGCAATGTGCCAGCCACTTGGAACTGCTAACTGAGCCTCCAGATGGTAGTGAATGGTCTCTTTGCCTTCAG
GCTGGATGAGGAAGTCATTTAGGAAATGTTCAAATAACCAATATGTGGAAATGGACACAGGGATCTTCTGAAGTTGCTTTGAATCAAAAG
GCAGGCAGTGCTGGTTCCTCTGCCTGTGTCCCCACCACTCCCCAGCTCTGTCATGCAGGCCTGTCCTCCCCAACCCCAGCTGGATGTGCC
TCCCAGGCCTGCTGTGGTTCTGACACACAGGATCCCAGGCAAGGCACCACTTCCTCACATGAATGAGGAGCAGCAAGTCATAACCACTCC
CTTGGGTATACAATTTGCTGTGTAGTGAAGTGGAACCAGGCTCAGGCTGCTGGTCCCAACCTCAGAGCCCCACCGCAGCCCAGTAGGGAT
GCAGCACGCCCCAGAGGGCTCATGTGGGCCCCAGATGGCAATGCCACCATTGTTGATGTGACTCCAGAGCCAGTTATTAGGAAGAGCAAG
CTCACCACAGAGGAGTGGAACTGAGGCCCCCCAGATGTTGCCTCCGGTGTCCAAGCCACAGCGGTCTGGCTGTTGGGAAGATGGCCAGGA
ATGGACTCATACCATTGGCACATTAGGCTAATCCTGGTTTTATGTGAAGTCAGCAATTAAGTGTTCCCACTAGAACTGACCTAAGCCACT
GATTAATATTTAATGAGGGAAGGTAGGGGAGAATCTAGCCATTTTATAATGCCAGAAATCTATATATGTTATCTGATGCCATTTTTCTGA

>61186_61186_4_NVL-LARS2_NVL_chr1_224492736_ENST00000391875_LARS2_chr3_45583321_ENST00000265537_length(amino acids)=322AA_BP=220
MQGSWIINSSSESSSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHM
NSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKDSEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKD
SSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKLCAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACG

--------------------------------------------------------------
>61186_61186_5_NVL-LARS2_NVL_chr1_224492736_ENST00000391875_LARS2_chr3_45583321_ENST00000414984_length(transcript)=1104nt_BP=717nt
CTAGGAGCTGGCGGTCCGAGCTGTGGCTTGGAAGACCGACGCGATGAAGCCCAGACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCG
AGTCATCCAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGATTCAGGTAGAAAAAGTATTTAGCATAATTAGTAGTGAGAAGG
AACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGGCAAGACAAGGTGAAGAGGATAATGAGTATACTGAAAGCTATT
CTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGTCAGCAAATCACATGAACAGTTCCCTGCTGTCTTTATATCGGAAAGGAA
ATCCTGATTCTGTTTCAAATACTCCTGAGATGGAGCAAAGAGAAACCACCTCTTCAACACCACGGATAAGTTCCAAAACAGGCTCCATTC
CCTTGAAGACCCCTGCCAAAGATTCTGAAGGAGGATGGTTTATTGACAAAACCCCAAGTGTAAAGAAAGACAGTTTTTTCTTGGACCTGT
CATGTGAGAAAAGTAATCCTAAGAAGCCAATAACTGAGATACAGGATTCAAAAGATTCTTCTCTTTTGGAGAGTGATATGAAACGGAAAG
GCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAGTAGATGGAGAAATTGAAGCTGTCCTGCAAAAGAAAGGCC
TGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTGCTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCC
TGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTTGTGGCAAAATTCCTGTGCCCCAACAAGTTGCCCGGGACC
AGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTGCAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGA
GAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCAGCTACCACGAGGGCCTCTGAGGAACCTCCTTCCAGGCCT

>61186_61186_5_NVL-LARS2_NVL_chr1_224492736_ENST00000391875_LARS2_chr3_45583321_ENST00000414984_length(amino acids)=322AA_BP=220
MQGSWIINSSSESSSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHM
NSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKDSEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKD
SSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKLCAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACG

--------------------------------------------------------------
>61186_61186_6_NVL-LARS2_NVL_chr1_224492736_ENST00000391875_LARS2_chr3_45583321_ENST00000415258_length(transcript)=2916nt_BP=717nt
CTAGGAGCTGGCGGTCCGAGCTGTGGCTTGGAAGACCGACGCGATGAAGCCCAGACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCG
AGTCATCCAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGATTCAGGTAGAAAAAGTATTTAGCATAATTAGTAGTGAGAAGG
AACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGGCAAGACAAGGTGAAGAGGATAATGAGTATACTGAAAGCTATT
CTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGTCAGCAAATCACATGAACAGTTCCCTGCTGTCTTTATATCGGAAAGGAA
ATCCTGATTCTGTTTCAAATACTCCTGAGATGGAGCAAAGAGAAACCACCTCTTCAACACCACGGATAAGTTCCAAAACAGGCTCCATTC
CCTTGAAGACCCCTGCCAAAGATTCTGAAGGAGGATGGTTTATTGACAAAACCCCAAGTGTAAAGAAAGACAGTTTTTTCTTGGACCTGT
CATGTGAGAAAAGTAATCCTAAGAAGCCAATAACTGAGATACAGGATTCAAAAGATTCTTCTCTTTTGGAGAGTGATATGAAACGGAAAG
GCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAGTAGATGGAGAAATTGAAGCTGTCCTGCAAAAGAAAGGCC
TGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTGTGCTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCC
TGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTTGTGGCAAAATTCCTGTGCCCCAACAAGTTGCCCGGGACC
AGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTTTGCAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGA
GAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCAGCTACCACGAGGGCCTCTGAGGAACCTCCTTCCAGGCCT
GGGATGAGGGGGCGATGTCTGCTGGCCCAGGGGAAGGGAAAAGACAAATGTCTTGACTGTTGACCTCGGTCCTGTGGCAGACTGCAGTCA
ACAGTGTGCCTCTGTAGTGTGGCCTGGTGCTGGGGTGAAGGTGAGCTGGGCAAAGGAGAAATATGAGCTACTGAGGAGGGGGTTGGACAT
CCTGCCCCTCACCCCCCACCCACACTGCAGGTAGAGGAGGCCATCTGATCCCATGGGAAGCCATCAGAGACACTGCTGGTGGGAGCAGGA
AGGAGCAGTGCCCCTCGAGCAGCCAGGAAGCCTGCGGATCTGGGAAATGGCTCTGCCTTAGGCACTTCTCGGGAATTTGAGGCCAGCCTG
AGGAACTGCAGGACTCAGGTGCAATGTGCCAGCCACTTGGAACTGCTAACTGAGCCTCCAGATGGTAGTGAATGGTCTCTTTGCCTTCAG
GCTGGATGAGGAAGTCATTTAGGAAATGTTCAAATAACCAATATGTGGAAATGGACACAGGGATCTTCTGAAGTTGCTTTGAATCAAAAG
GCAGGCAGTGCTGGTTCCTCTGCCTGTGTCCCCACCACTCCCCAGCTCTGTCATGCAGGCCTGTCCTCCCCAACCCCAGCTGGATGTGCC
TCCCAGGCCTGCTGTGGTTCTGACACACAGGATCCCAGGCAAGGCACCACTTCCTCACATGAATGAGGAGCAGCAAGTCATAACCACTCC
CTTGGGTATACAATTTGCTGTGTAGTGAAGTGGAACCAGGCTCAGGCTGCTGGTCCCAACCTCAGAGCCCCACCGCAGCCCAGTAGGGAT
GCAGCACGCCCCAGAGGGCTCATGTGGGCCCCAGATGGCAATGCCACCATTGTTGATGTGACTCCAGAGCCAGTTATTAGGAAGAGCAAG
CTCACCACAGAGGAGTGGAACTGAGGCCCCCCAGATGTTGCCTCCGGTGTCCAAGCCACAGCGGTCTGGCTGTTGGGAAGATGGCCAGGA
ATGGACTCATACCATTGGCACATTAGGCTAATCCTGGTTTTATGTGAAGTCAGCAATTAAGTGTTCCCACTAGAACTGACCTAAGCCACT
GATTAATATTTAATGAGGGAAGGTAGGGGAGAATCTAGCCATTTTATAATGCCAGAAATCTATATATGTTATCTGATGCCATTTTTCTGA
AGTAGCCTCACATGTGGTCCCCCTGCAGTTCAGCAGTTAACAGATGACTTTTTTAGTGTAATAAAATGTTTATCATCTATGACTTCAGGA
CATATGTGTGATCCTGGAATACACCATATTCCAATTTCAGAGTTAATTACAAACAGATTGAGGTATTCCATCATCATCGGAAGCATTGGC
TGTGTGTCTGACTCCACATGGAATGCTATAAAGTGGGATACATGTGGTTCTTCTTGTTCCAGAACTTACAGTCCATGGTAGACAACACTG
ATACAGGCAAACTAGCAACAGCAATTAAGTCACTGGTTCTCAGACTTAATACTCTGCCTGGTCCTCATGCCCAGATATTCCAATTTAATT
GGTCCATGGTGTGGCTTGAACACCAGGAATCTTTAAAACTCCACAAGTGATTCTAATGGGCAGCAAAGTTTGAGAATCACTGGACACATT
GATGCACTTGAGCCATCATTTCTATCTAGTTCTTCCTCTTCCTAATCTTCAGGTTAGCGGGGATAAGTTTGGTCCAGGACCAAGAGTTGG
ACCAAAAGGGAAGACAGGGGCCAGAAGTCTAGAGTGCTAGAGCCGACTTGAATGTACTCAGTCTCATTGCACATGGCAGTGAATATGGAT

>61186_61186_6_NVL-LARS2_NVL_chr1_224492736_ENST00000391875_LARS2_chr3_45583321_ENST00000415258_length(amino acids)=322AA_BP=220
MQGSWIINSSSESSSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQGEEDNEYTESYSDDDSSMEDYPDPQSANHM
NSSLLSLYRKGNPDSVSNTPEMEQRETTSSTPRISSKTGSIPLKTPAKDSEGGWFIDKTPSVKKDSFFLDLSCEKSNPKKPITEIQDSKD
SSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKLCAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACG

--------------------------------------------------------------
>61186_61186_7_NVL-LARS2_NVL_chr1_224492736_ENST00000469075_LARS2_chr3_45583321_ENST00000265537_length(transcript)=2101nt_BP=486nt
AGACCGACGCGATGAAGCCCAGACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCGAGTCATCCAGTACCTTACCAGTAACAAATGTG
GCAAATATGTGGACATTGGAGTCTTAGCGTCTGATTTACAAAGAGTGTACAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGA
TTCAGGTAGAAAAAGTATTTAGCATAATTAGTAGTGAGAAGGAACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGG
CAAGACAAGGTGAAGAGGATAATGAGTATACTGAAAGCTATTCTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGGATTCAA
AAGATTCTTCTCTTTTGGAGAGTGATATGAAACGGAAAGGCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAG
TAGATGGAGAAATTGAAGCTGTCCTGCAAAAGAAAGGCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTG
TGCTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTT
GTGGCAAAATTCCTGTGCCCCAACAAGTTGCCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTT
TGCAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCA
GCTACCACGAGGGCCTCTGAGGAACCTCCTTCCAGGCCTGGGATGAGGGGGCGATGTCTGCTGGCCCAGGGGAAGGGAAAAGACAAATGT
CTTGACTGTTGACCTCGGTCCTGTGGCAGACTGCAGTCAACAGTGTGCCTCTGTAGTGTGGCCTGGTGCTGGGGTGAAGGTGAGCTGGGC
AAAGGAGAAATATGAGCTACTGAGGAGGGGGTTGGACATCCTGCCCCTCACCCCCCACCCACACTGCAGGTAGAGGAGGCCATCTGATCC
CATGGGAAGCCATCAGAGACACTGCTGGTGGGAGCAGGAAGGAGCAGTGCCCCTCGAGCAGCCAGGAAGCCTGCGGATCTGGGAAATGGC
TCTGCCTTAGGCACTTCTCGGGAATTTGAGGCCAGCCTGAGGAACTGCAGGACTCAGGTGCAATGTGCCAGCCACTTGGAACTGCTAACT
GAGCCTCCAGATGGTAGTGAATGGTCTCTTTGCCTTCAGGCTGGATGAGGAAGTCATTTAGGAAATGTTCAAATAACCAATATGTGGAAA
TGGACACAGGGATCTTCTGAAGTTGCTTTGAATCAAAAGGCAGGCAGTGCTGGTTCCTCTGCCTGTGTCCCCACCACTCCCCAGCTCTGT
CATGCAGGCCTGTCCTCCCCAACCCCAGCTGGATGTGCCTCCCAGGCCTGCTGTGGTTCTGACACACAGGATCCCAGGCAAGGCACCACT
TCCTCACATGAATGAGGAGCAGCAAGTCATAACCACTCCCTTGGGTATACAATTTGCTGTGTAGTGAAGTGGAACCAGGCTCAGGCTGCT
GGTCCCAACCTCAGAGCCCCACCGCAGCCCAGTAGGGATGCAGCACGCCCCAGAGGGCTCATGTGGGCCCCAGATGGCAATGCCACCATT
GTTGATGTGACTCCAGAGCCAGTTATTAGGAAGAGCAAGCTCACCACAGAGGAGTGGAACTGAGGCCCCCCAGATGTTGCCTCCGGTGTC
CAAGCCACAGCGGTCTGGCTGTTGGGAAGATGGCCAGGAATGGACTCATACCATTGGCACATTAGGCTAATCCTGGTTTTATGTGAAGTC
AGCAATTAAGTGTTCCCACTAGAACTGACCTAAGCCACTGATTAATATTTAATGAGGGAAGGTAGGGGAGAATCTAGCCATTTTATAATG
CCAGAAATCTATATATGTTATCTGATGCCATTTTTCTGAAGTAGCCTCACATGTGGTCCCCCTGCAGTTCAGCAGTTAACAGATGACTTT

>61186_61186_7_NVL-LARS2_NVL_chr1_224492736_ENST00000469075_LARS2_chr3_45583321_ENST00000265537_length(amino acids)=260AA_BP=158
MKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQG
EEDNEYTESYSDDDSSMEDYPDPQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKLCAHYTWDASVLLQ

--------------------------------------------------------------
>61186_61186_8_NVL-LARS2_NVL_chr1_224492736_ENST00000469075_LARS2_chr3_45583321_ENST00000414984_length(transcript)=873nt_BP=486nt
AGACCGACGCGATGAAGCCCAGACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCGAGTCATCCAGTACCTTACCAGTAACAAATGTG
GCAAATATGTGGACATTGGAGTCTTAGCGTCTGATTTACAAAGAGTGTACAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGA
TTCAGGTAGAAAAAGTATTTAGCATAATTAGTAGTGAGAAGGAACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGG
CAAGACAAGGTGAAGAGGATAATGAGTATACTGAAAGCTATTCTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGGATTCAA
AAGATTCTTCTCTTTTGGAGAGTGATATGAAACGGAAAGGCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAG
TAGATGGAGAAATTGAAGCTGTCCTGCAAAAGAAAGGCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTG
TGCTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTT
GTGGCAAAATTCCTGTGCCCCAACAAGTTGCCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTT
TGCAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCA

>61186_61186_8_NVL-LARS2_NVL_chr1_224492736_ENST00000469075_LARS2_chr3_45583321_ENST00000414984_length(amino acids)=260AA_BP=158
MKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQG
EEDNEYTESYSDDDSSMEDYPDPQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKLCAHYTWDASVLLQ

--------------------------------------------------------------
>61186_61186_9_NVL-LARS2_NVL_chr1_224492736_ENST00000469075_LARS2_chr3_45583321_ENST00000415258_length(transcript)=2685nt_BP=486nt
AGACCGACGCGATGAAGCCCAGACCTGCAGGGTTCGTGGATAATAAACTCAAGCAGCGAGTCATCCAGTACCTTACCAGTAACAAATGTG
GCAAATATGTGGACATTGGAGTCTTAGCGTCTGATTTACAAAGAGTGTACAGTATAGACTATGGTCGAAGAAAAAGAAATGCTTTTAGGA
TTCAGGTAGAAAAAGTATTTAGCATAATTAGTAGTGAGAAGGAACTTAAGAATTTAACAGAATTAGAAGATGAACATTTGGCAAAAAGGG
CAAGACAAGGTGAAGAGGATAATGAGTATACTGAAAGCTATTCTGATGATGATTCAAGTATGGAAGACTACCCAGATCCACAGGATTCAA
AAGATTCTTCTCTTTTGGAGAGTGATATGAAACGGAAAGGCAAGCTAAAGAATAAAGGAAGCAAAAGGAAGAAAGAAGATCTTCAGGAAG
TAGATGGAGAAATTGAAGCTGTCCTGCAAAAGAAAGGCCTGGCGCTGGTGCCGAGGAAGCTCTGTGCCCACTACACTTGGGATGCCAGTG
TGCTGCTCCAGGCATGGCCTGCTGTGGACCCGGAGTTCCTGCAGCAGCCTGAGGTTGTCCAGATGGCAGTTCTGATCAACAATAAAGCTT
GTGGCAAAATTCCTGTGCCCCAACAAGTTGCCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGCGAGCTGGGTGTCAGGCTTT
TGCAAGGACGAAGCATCAAGAAGTCCTTCCTTTCCCCGAGAACTGCCCTCATCAACTTCCTGGTGCAAGATTGACAGCCAGGAGGCTGCA
GCTACCACGAGGGCCTCTGAGGAACCTCCTTCCAGGCCTGGGATGAGGGGGCGATGTCTGCTGGCCCAGGGGAAGGGAAAAGACAAATGT
CTTGACTGTTGACCTCGGTCCTGTGGCAGACTGCAGTCAACAGTGTGCCTCTGTAGTGTGGCCTGGTGCTGGGGTGAAGGTGAGCTGGGC
AAAGGAGAAATATGAGCTACTGAGGAGGGGGTTGGACATCCTGCCCCTCACCCCCCACCCACACTGCAGGTAGAGGAGGCCATCTGATCC
CATGGGAAGCCATCAGAGACACTGCTGGTGGGAGCAGGAAGGAGCAGTGCCCCTCGAGCAGCCAGGAAGCCTGCGGATCTGGGAAATGGC
TCTGCCTTAGGCACTTCTCGGGAATTTGAGGCCAGCCTGAGGAACTGCAGGACTCAGGTGCAATGTGCCAGCCACTTGGAACTGCTAACT
GAGCCTCCAGATGGTAGTGAATGGTCTCTTTGCCTTCAGGCTGGATGAGGAAGTCATTTAGGAAATGTTCAAATAACCAATATGTGGAAA
TGGACACAGGGATCTTCTGAAGTTGCTTTGAATCAAAAGGCAGGCAGTGCTGGTTCCTCTGCCTGTGTCCCCACCACTCCCCAGCTCTGT
CATGCAGGCCTGTCCTCCCCAACCCCAGCTGGATGTGCCTCCCAGGCCTGCTGTGGTTCTGACACACAGGATCCCAGGCAAGGCACCACT
TCCTCACATGAATGAGGAGCAGCAAGTCATAACCACTCCCTTGGGTATACAATTTGCTGTGTAGTGAAGTGGAACCAGGCTCAGGCTGCT
GGTCCCAACCTCAGAGCCCCACCGCAGCCCAGTAGGGATGCAGCACGCCCCAGAGGGCTCATGTGGGCCCCAGATGGCAATGCCACCATT
GTTGATGTGACTCCAGAGCCAGTTATTAGGAAGAGCAAGCTCACCACAGAGGAGTGGAACTGAGGCCCCCCAGATGTTGCCTCCGGTGTC
CAAGCCACAGCGGTCTGGCTGTTGGGAAGATGGCCAGGAATGGACTCATACCATTGGCACATTAGGCTAATCCTGGTTTTATGTGAAGTC
AGCAATTAAGTGTTCCCACTAGAACTGACCTAAGCCACTGATTAATATTTAATGAGGGAAGGTAGGGGAGAATCTAGCCATTTTATAATG
CCAGAAATCTATATATGTTATCTGATGCCATTTTTCTGAAGTAGCCTCACATGTGGTCCCCCTGCAGTTCAGCAGTTAACAGATGACTTT
TTTAGTGTAATAAAATGTTTATCATCTATGACTTCAGGACATATGTGTGATCCTGGAATACACCATATTCCAATTTCAGAGTTAATTACA
AACAGATTGAGGTATTCCATCATCATCGGAAGCATTGGCTGTGTGTCTGACTCCACATGGAATGCTATAAAGTGGGATACATGTGGTTCT
TCTTGTTCCAGAACTTACAGTCCATGGTAGACAACACTGATACAGGCAAACTAGCAACAGCAATTAAGTCACTGGTTCTCAGACTTAATA
CTCTGCCTGGTCCTCATGCCCAGATATTCCAATTTAATTGGTCCATGGTGTGGCTTGAACACCAGGAATCTTTAAAACTCCACAAGTGAT
TCTAATGGGCAGCAAAGTTTGAGAATCACTGGACACATTGATGCACTTGAGCCATCATTTCTATCTAGTTCTTCCTCTTCCTAATCTTCA
GGTTAGCGGGGATAAGTTTGGTCCAGGACCAAGAGTTGGACCAAAAGGGAAGACAGGGGCCAGAAGTCTAGAGTGCTAGAGCCGACTTGA

>61186_61186_9_NVL-LARS2_NVL_chr1_224492736_ENST00000469075_LARS2_chr3_45583321_ENST00000415258_length(amino acids)=260AA_BP=158
MKPRPAGFVDNKLKQRVIQYLTSNKCGKYVDIGVLASDLQRVYSIDYGRRKRNAFRIQVEKVFSIISSEKELKNLTELEDEHLAKRARQG
EEDNEYTESYSDDDSSMEDYPDPQDSKDSSLLESDMKRKGKLKNKGSKRKKEDLQEVDGEIEAVLQKKGLALVPRKLCAHYTWDASVLLQ

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Fusion Gene PPI Analysis for NVL-LARS2


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
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-7231_220249.33333333333334857.0RPL5


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-4211_22033.333333333333336668.0RPL5
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-6221_220143.33333333333334751.0RPL5
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-6221_220158.33333333333334766.0RPL5
HgeneNVLchr1:224492736chr3:45583321ENST00000281701-723267_474249.33333333333334857.0WDR74
HgeneNVLchr1:224492736chr3:45583321ENST00000340871-421267_47433.333333333333336668.0WDR74
HgeneNVLchr1:224492736chr3:45583321ENST00000391875-622267_474143.33333333333334751.0WDR74
HgeneNVLchr1:224492736chr3:45583321ENST00000469075-622267_474158.33333333333334766.0WDR74


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 NVL-LARS2


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 NVL-LARS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource