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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: LARS2 (NCBI Gene ID:23395)

Gene Summary

Gene Summary

Gene Information	Gene Name: LARS2
	Gene ID: 23395
	Gene Symbol	LARS2
	Gene ID	23395
	Gene Name	leucyl-tRNA synthetase 2, mitochondrial
	Synonyms	HLASA\|LEURS\|PRLTS4\|mtLeuRS
	Cytomap	3p21.31
	Type of Gene	protein-coding
	Description	probable leucine--tRNA ligase, mitochondrialleucine tRNA ligase 2, mitochondrialleucine tRNA ligase 2, mitocondrialleucine translaseprobable leucyl-tRNA synthetase, mitochondrial
	Modification date	20200313
	UniProtAcc	Q15031

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0032543	Mitochondrial translation
GO:0006418	tRNA aminoacylation for protein translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	LARS2	GO:0006429	leucyl-tRNA aminoacylation	10684970

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
LARS2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'LARS2[title] AND translation [title] AND human.'

Gene	Title	PMID
LARS2	Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)	32399598

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events 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.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000265537	45441736	45441865	In-frame
ENST00000415258	45441736	45441865	In-frame
ENST00000265537	45488382	45488472	In-frame
ENST00000415258	45488382	45488472	In-frame
ENST00000265537	45500234	45500378	In-frame
ENST00000415258	45500234	45500378	In-frame
ENST00000265537	45515734	45515842	In-frame
ENST00000415258	45515734	45515842	In-frame
ENST00000265537	45533008	45533292	Frame-shift
ENST00000415258	45533008	45533292	Frame-shift
ENST00000265537	45541933	45542071	In-frame
ENST00000415258	45541933	45542071	In-frame
ENST00000265537	45554626	45554727	Frame-shift
ENST00000415258	45554626	45554727	Frame-shift
ENST00000265537	45561710	45561788	In-frame
ENST00000415258	45561710	45561788	In-frame
ENST00000265537	45565488	45565600	Frame-shift
ENST00000415258	45565488	45565600	Frame-shift
ENST00000265537	45583320	45583448	Frame-shift
ENST00000415258	45583320	45583448	Frame-shift

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000265537	45441736	45441865	4298	497	625	903	78	121
ENST00000415258	45441736	45441865	4761	376	504	903	78	121
ENST00000265537	45488382	45488472	4298	779	868	903	172	202
ENST00000415258	45488382	45488472	4761	658	747	903	172	202
ENST00000265537	45500234	45500378	4298	869	1012	903	202	250
ENST00000415258	45500234	45500378	4761	748	891	903	202	250
ENST00000265537	45515734	45515842	4298	1013	1120	903	250	286
ENST00000415258	45515734	45515842	4761	892	999	903	250	286
ENST00000265537	45541933	45542071	4298	1885	2022	903	541	586
ENST00000415258	45541933	45542071	4761	1764	1901	903	541	586
ENST00000265537	45561710	45561788	4298	2477	2554	903	738	764
ENST00000415258	45561710	45561788	4761	2356	2433	903	738	764

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc	Exon skip start (AA)	Exon Skip end (AA)	Function feature start (AA)	Function feature end (AA)	Functional feature type	Functional feature desc.
Q15031	78	121	92	102	Motif	Note="HIGH" region
Q15031	78	121	92	102	Motif	Note="HIGH" region
Q15031	202	250	236	236	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q15031	202	250	236	236	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
STAD	LARS2	-3.14243034518345	0.00019507110118866
THCA	LARS2	1.46480152873302	0.000495104848866816
BRCA	LARS2	-5.48583270161281	1.12177735729832e-06
LUAD	LARS2	-1.17851720308655	2.81164525558733e-06
KICH	LARS2	1.44112931619469	4.17232513427734e-06

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type	Gene	methyl group b	methyl group a	DEG pval	avg methyl in b	avg methyl in a	avg exp in b	avg exp in a
SKCM	LARS2	1	2	0.0180111128396985	0.168450961538462	0.283579481641469	-1.13059497944	-0.530677983261533

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
PRAD	LARS2	-0.068844041	0.015439758

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with LARS2 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
CHOL	Cell metabolism gene	LARS2	SACM1L	0.808179348	1.92E-11
CHOL	Cell metabolism gene	LARS2	ELOVL6	0.819669654	5.75E-12
CHOL	IUPHAR	LARS2	CRBN	0.81432784	1.02E-11
KICH	Cell metabolism gene	LARS2	ALAS1	0.816344614	6.23E-23
KICH	Cell metabolism gene	LARS2	SACM1L	0.822851834	1.46E-23
UVM	Epifactor	LARS2	SFMBT1	0.825907034	4.20E-21
UVM	Epifactor	LARS2	WDR82	0.839928508	2.11E-22
UVM	IUPHAR	LARS2	SLC25A26	0.801309084	4.41E-19

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
STAD	LARS2	YARS	-6.49411565641968	0.000280400272458792
BRCA	LARS2	QARS	-4.19270554058168	0.00045278023754438
KIRP	LARS2	PARS2	1.16452168188224	0.000471815001219511
HNSC	LARS2	YARS	1.29642872422682	0.000481783007217019
STAD	LARS2	AARS	-1.37044043826934	0.000657554250210524
STAD	LARS2	EPRS	-1.48171581324647	0.000789262883452143
LUSC	LARS2	RARS2	1.87851633718952	0.00105278618568408
THCA	LARS2	QARS	-1.4601543520666	0.00171161769998529
BLCA	LARS2	PARS2	-2.53947468245316	0.002838134765625
CHOL	LARS2	MARS	-4.58890181072108	0.00390625
HNSC	LARS2	YARS2	1.51758504797514	0.00498432417884942
KIRP	LARS2	RARS2	-1.62015129839089	0.00733334058895707
ESCA	LARS2	YARS2	-2.00710684466974	0.0185546875
PRAD	LARS2	PARS2	-1.46158282673459	0.0436765184075403
LUAD	LARS2	PARS2	-3.49187010929807	1.06715530949094e-10
THCA	LARS2	YARS	-1.52851760350795	1.38467683131598e-09
LIHC	LARS2	EPRS	-7.10731017811505	2.28054594243154e-08
KICH	LARS2	YARS	-2.00632816869948	2.98023223876953e-07
LUSC	LARS2	PARS2	-2.93653902690081	3.1117120779415e-08
PRAD	LARS2	QARS	1.84374784424986	3.33417295851411e-06
BRCA	LARS2	YARS	-2.58863291399932	3.63754942015711e-21
LUAD	LARS2	AARS	-6.1139400689607	4.40386642176516e-08
BRCA	LARS2	MARS	-2.42525133735396	4.72741245870012e-27
LIHC	LARS2	MARS	-3.13394077995853	7.36800472650994e-09
KIRP	LARS2	MARS	-1.35870938193596	7.40401446819306e-05
PRAD	LARS2	EPRS	-1.76339127457265	9.52775218277559e-05
STAD	LARS2	NARS2	-1.47625969382721	9.99853946268559e-05

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with LARS2

tV(UAC)Q, tI(GAU)Q, YWHAQ, BSG, TGOLN2, FBXW11, NTRK1, RHOU, DUSP22, NIT1, NDUFS7, YBEY, ACSM5, BPNT1, MRPL21, C1orf85, ATP5D, SUCLG1, BCKDHB, ACAA2, LIG3, SDHB, GATB, TFB1M, CDC34, PRKAA1, GPX1, PIK3CD, GRM2, CSF1R, PFKFB1, ALK, XIAP, BRD2, MRM1, HSPD1, PDK1, TRMT61B, KIAA1429, TIMM13, TST, PLEKHA4, HKDC1, IMMP2L, HSCB, ACAD9, AUH, C12orf65, C1QBP, C21orf33, C6orf203, C8orf82, MCUR1, CCDC90B, CRYZ, CS, FASTKD3, FASTKD5, GFM1, GFM2, GRSF1, HINT2, ICT1, LRPPRC, CCDC109B, MDH2, METTL17, MRPL11, MRPS12, MRPS26, MRRF, MTERF3, MTG2, MTIF2, MTIF3, MTRF1, MTRF1L, OTC, PMPCA, PMPCB, RMND1, RPUSD3, RPUSD4, SSBP1, SURF1, TACO1, TBRG4, TRUB2, TSFM, TUFM, VWA8, EXD2, CLPP, KDF1, AARS2, COX4I1, COX8A, PDHA1, TRAP1, SMAD4, PDP1, UQCRB, HCST, NAA38, UQCRFS1, NDUFA10, PFDN5, PTCD1, COQ3, MALSU1, BCL2L12, NPTN, RDX, RAMP2, ISLR, AK4, YARS2, FTSJ2, TAZ, FAHD1, MYL10, GCAT, MRPS2, NIPSNAP3A, METTL20, TRMU, MRPS24, WIF1, CBR4, SSC4D, MRPS7, AMACR, GPR182, HSD17B8, TRIM43, MRPS30, MRPS17, RASL10B, GPR45, PCCB, SYT6, ABHD10, OPTN,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
LARS2	chr3	45430151	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
LARS2	chr3	45430157	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
LARS2	chr3	45430178	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45430182	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45430245	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45432975	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45433126	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
LARS2	chr3	45433267	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45435682	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45435849	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45435912	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45435967	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45436070	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45436102	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45436125	G	C	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45436134	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LARS2	chr3	45436164	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45436225	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45436473	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441397	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441462	CA	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441718	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441725	G	A	single_nucleotide_variant	Benign/Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441730	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441757	C	T	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45441810	G	A	single_nucleotide_variant	Likely_pathogenic	Mitochondrial_myopathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45441819	C	T	single_nucleotide_variant	Uncertain_significance	Hydrops,_lactic_acidosis,_and_sideroblastic_anemia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45441826	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45441828	A	G	single_nucleotide_variant	Uncertain_significance	Premature_ovarian_failure	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45441840	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45441864	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45441878	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45441907	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45458733	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45458751	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45458981	A	T	single_nucleotide_variant	Pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45458998	G	A	single_nucleotide_variant	Likely_pathogenic	Hydrops,_lactic_acidosis,_and_sideroblastic_anemia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45459026	C	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45459034	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45459050	A	C	single_nucleotide_variant	Likely_pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45459287	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45460914	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45461102	G	GT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45461162	A	C	single_nucleotide_variant	Likely_pathogenic	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|Perrault_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45461193	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45461359	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45461483	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45488162	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45488379	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45488422	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LARS2	chr3	45488668	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45499944	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45500174	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45500178	C	CA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45500311	G	A	single_nucleotide_variant	Likely_pathogenic	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45500321	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45500367	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45500686	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45515648	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45515747	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45515749	G	A	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45517759	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45517799	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45517964	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45517980	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45517981	G	A	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45518000	C	T	single_nucleotide_variant	Pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45518045	C	T	single_nucleotide_variant	Uncertain_significance	Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45518046	G	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45518046	G	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45518073	C	A	single_nucleotide_variant	Benign	not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45518109	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45526966	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45526995	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527099	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527218	T	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45527218	T	C	single_nucleotide_variant	Benign	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45527223	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45527240	GT	G	Deletion	Pathogenic	Perrault_syndrome_4	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LARS2	chr3	45527269	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45527280	C	G	single_nucleotide_variant	Likely_pathogenic	Perrault_syndrome_4	SO:0001587\|nonsense	SO:0001587\|nonsense
LARS2	chr3	45527296	G	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527299	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527484	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527505	G	GATT	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527508	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45527508	T	TAAG	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45529865	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45529896	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45529953	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45529994	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45530157	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45530181	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45530196	C	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45530243	C	A	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45530262	A	G	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45530302	G	A	single_nucleotide_variant	Likely_pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45530338	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45530355	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45530401	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45530465	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45532721	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45533014	AG	A	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LARS2	chr3	45533058	C	T	single_nucleotide_variant	Pathogenic	Hydrops,_lactic_acidosis,_and_sideroblastic_anemia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45533065	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533071	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533082	A	G	single_nucleotide_variant	Likely_pathogenic	Hydrops,_lactic_acidosis,_and_sideroblastic_anemia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45533149	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533152	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533161	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533221	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533224	G	A	single_nucleotide_variant	Benign	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45533244	G	GC	Duplication	Pathogenic	Nonsyndromic_hearing_loss_and_deafness	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
LARS2	chr3	45533283	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45533289	C	G	single_nucleotide_variant	Likely_pathogenic	Rare_genetic_deafness	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45533385	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45537773	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45537795	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mitochondrial_myopathy\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45537799	C	T	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45537800	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45537808	C	A	single_nucleotide_variant	Pathogenic	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|Perrault_syndrome\|not_provided\|Rare_genetic_deafness	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45537827	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45537850	C	T	single_nucleotide_variant	Likely_pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45537872	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45537873	G	A	single_nucleotide_variant	Benign/Likely_benign	not_specified\|none_provided\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45537908	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45537973	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45541758	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45541785	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45541937	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45542003	C	T	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45542064	A	G	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45542083	T	C	single_nucleotide_variant	Benign	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45542305	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45554645	G	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45554648	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45554650	C	A	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45554679	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45554680	G	A	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45554706	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45554734	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45554898	AG	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45554920	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45555044	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45557574	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45557590	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45557610	C	T	single_nucleotide_variant	Pathogenic	Perrault_syndrome_4\|Nonsyndromic_hearing_loss_and_deafness	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45557636	G	A	single_nucleotide_variant	Pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45557662	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45557671	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45557698	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45557703	A	T	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45557707	G	A	single_nucleotide_variant	Benign	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45557711	C	T	single_nucleotide_variant	Pathogenic	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45557713	G	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45557780	TC	T	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45558052	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45559187	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45559359	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45559449	C	T	single_nucleotide_variant	Likely_pathogenic	Hydrops,_lactic_acidosis,_and_sideroblastic_anemia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45559462	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45559474	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45559519	T	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45559519	T	C	single_nucleotide_variant	Benign	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45559531	G	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45559553	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45559561	T	C	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45559577	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45559621	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561487	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561575	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561624	C	CT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561734	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45561753	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45561759	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
LARS2	chr3	45561765	A	T	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45561774	A	G	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45561781	C	A	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45561796	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561796	GC	TT	Indel	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561835	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561886	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561980	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45561994	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45565254	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45565439	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45565503	C	T	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45565554	A	G	single_nucleotide_variant	Benign	Perrault_syndrome_4\|Hydrops,_lactic_acidosis,_and_sideroblastic_anemia\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45565604	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45565605	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45565773	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45565865	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45583297	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45583297	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45583298	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45583336	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45583337	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45583406	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45583409	G	T	single_nucleotide_variant	Benign	Perrault_syndrome_4\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45588758	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
LARS2	chr3	45588857	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45588870	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45588882	C	A	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45588912	G	A	single_nucleotide_variant	Benign/Likely_benign	Perrault_syndrome_4\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45588930	G	A	single_nucleotide_variant	Uncertain_significance	Perrault_syndrome_4\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
LARS2	chr3	45588986	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45589019	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
LARS2	chr3	45589274	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
LARS2	PAAD	chr3	45459025	45459025	G	A	Missense_Mutation	p.A139T	5
LARS2	BLCA	chr3	45561759	45561759	C	T	Nonsense_Mutation	p.Q755*	4
LARS2	KIRC	chr3	45537772	45537772	A	G	Missense_Mutation	p.K510R	4
LARS2	PRAD	chr3	45559536	45559536	G	T	Missense_Mutation	p.W729L	4
LARS2	ESCA	chr3	45588891	45588891	C	G	Missense_Mutation	p.R861G	3
LARS2	BRCA	chr3	45583431	45583431	G	T	Missense_Mutation	p.V839F	3
LARS2	SKCM	chr3	45554637	45554637	C	T	Missense_Mutation	p.H591Y	3
LARS2	UCEC	chr3	45557631	45557631	C	T	Missense_Mutation	p.T636M	3
LARS2	UCS	chr3	45537860	45537860	A	G	Silent	p.P539P	3
LARS2	SKCM	chr3	45557701	45557701	C	T	Silent	p.I659I	3
LARS2	SKCM	chr3	45561771	45561771	C	T	Missense_Mutation	p.L759F	3
LARS2	UCEC	chr3	45530260	45530260	G	T	Nonsense_Mutation	p.E399*	2
LARS2	LIHC	chr3	45533135	45533135	G	A	Missense_Mutation		2
LARS2	PAAD	chr3	45459025	45459025	G	A	Missense_Mutation		2
LARS2	STAD	chr3	45436077	45436077	G	A	Silent	p.T44T	2
LARS2	BLCA	chr3	45441783	45441783	C	G	Missense_Mutation	p.S94C	2
LARS2	CHOL	chr3	45500306	45500306	A	T	Silent		2
LARS2	UCEC	chr3	45533121	45533121	G	A	Missense_Mutation	p.R451Q	2
LARS2	STAD	chr3	45530204	45530204	G	A	Missense_Mutation	p.S380N	2
LARS2	SKCM	chr3	45518006	45518006	C	T	Missense_Mutation	p.T302I	2
LARS2	CHOL	chr3	45500306	45500306	A	T	Silent	p.S226S	2
LARS2	LIHC	chr3	45461220	45461220	G	-	Splice_Site	p.R172_splice	2
LARS2	STAD	chr3	45554714	45554714	A	C	Missense_Mutation	p.E616D	2
LARS2	SKCM	chr3	45541995	45541995	G	A	Missense_Mutation	p.E562K	2
LARS2	UCEC	chr3	45533227	45533227	T	G	Silent	p.S486	2
LARS2	LIHC	chr3	45541984	45541984	T	-	Frame_Shift_Del	p.I558fs	2
LARS2	STAD	chr3	45527192	45527192	A	G	Missense_Mutation	p.T343A	2
LARS2	SKCM	chr3	45589004	45589004	C	T	Silent	p.N898N	2
LARS2	UCEC	chr3	45541932	45541932	A	T	Splice_Site	e13-2	2
LARS2	LIHC	chr3	45542053	45542053	A	-	Frame_Shift_Del	p.Q581fs	2
LARS2	ESCA	chr3	45588891	45588891	C	G	Missense_Mutation		2
LARS2	PAAD	chr3	45530205	45530205	C	T	Silent	p.S380S	2
LARS2	STAD	chr3	45527188	45527188	C	T	Silent	p.C341C	2
LARS2	SKCM	chr3	45518045	45518045	C	T	Missense_Mutation	p.S315L	2
LARS2	UCEC	chr3	45541936	45541936	C	T	Missense_Mutation	p.P542L	2
LARS2	LIHC	chr3	45557660	45557660	A	-	Frame_Shift_Del	p.N646fs	2
LARS2	SKCM	chr3	45583412	45583412	C	T	Silent	p.F832F	2
LARS2	UCEC	chr3	45557711	45557711	C	T	Missense_Mutation	p.R663W	2
LARS2	LIHC	chr3	45583448	45583448	G	-	Splice_Site	p.L844_splice	2
LARS2	ESCA	chr3	45557698	45557698	G	A	Silent	p.G658G	2
LARS2	CESC	chr3	45441741	45441741	C	T	Missense_Mutation		2
LARS2	STAD	chr3	45557745	45557745	A	C	Missense_Mutation	p.K674T	2
LARS2	COAD	chr3	45588986	45588986	G	T	Silent	p.P892P	2
LARS2	BLCA	chr3	45500280	45500280	G	A	Missense_Mutation		2
LARS2	PRAD	chr3	45527196	45527196	C	T	Missense_Mutation	p.P344L	2
LARS2	UCS	chr3	45583357	45583357	A	T	Missense_Mutation	p.Y814F	2
LARS2	UCEC	chr3	45527234	45527234	C	T	Missense_Mutation	p.P357S	2
LARS2	BLCA	chr3	45557707	45557707	G	A	Silent		2
LARS2	SKCM	chr3	45500238	45500238	C	T	Silent	p.L204L	2
LARS2	UCEC	chr3	45527276	45527276	G	A	Missense_Mutation	p.D371N	2
LARS2	CESC	chr3	45554648	45554648	G	T	Silent	p.L594	1
LARS2	LIHC	chr3	45517966	45517966	G	C	Missense_Mutation	p.G289R	1
LARS2	SKCM	chr3	45537800	45537800	G	A	Silent	p.T519T	1
LARS2	ESCA	chr3	45557698	45557698	G	A	Silent	p.G658	1
LARS2	HNSC	chr3	45530194	45530194	C	T	Missense_Mutation		1
LARS2	SARC	chr3	45557603	45557603	G	T	Missense_Mutation		1
LARS2	STAD	chr3	45515795	45515795	C	T	Missense_Mutation		1
LARS2	LIHC	chr3	45557708	45557708	A	G	Missense_Mutation	p.I662V	1
LARS2	SKCM	chr3	45589003	45589003	A	T	Missense_Mutation	p.N898I	1
LARS2	LUAD	chr3	45565506	45565506	C	T	Silent	p.V770V	1
LARS2	PAAD	chr3	45530205	45530205	C	T	Silent		1
LARS2	BLCA	chr3	45500280	45500280	G	A	Missense_Mutation	p.E218K	1
LARS2	HNSC	chr3	45500356	45500356	T	G	Missense_Mutation	p.I243S	1
LARS2	THCA	chr3	45436102	45436102	T	C	Silent		1
LARS2	SKCM	chr3	45458985	45458985	C	T	Silent	p.P125P	1
LARS2	ESCA	chr3	45530292	45530292	C	T	Silent		1
LARS2	LUAD	chr3	45530212	45530212	G	T	Missense_Mutation	p.D383Y	1
LARS2	PAAD	chr3	45527209	45527209	G	T	Silent		1
LARS2	HNSC	chr3	45530194	45530194	C	T	Missense_Mutation	p.P377S	1
LARS2	THCA	chr3	45533062	45533062	G	A	Silent		1
LARS2	COAD	chr3	45436083	45436083	G	T	Missense_Mutation	p.K46N	1
LARS2	SKCM	chr3	45436161	45436161	C	T	Silent	p.S72S	1
LARS2	ESCA	chr3	45557698	45557698	G	A	Silent		1
LARS2	BLCA	chr3	45500348	45500348	A	G	Silent	p.Q240Q	1
LARS2	KIRC	chr3	45436165	45436165	A	T	Missense_Mutation	p.I74F	1
LARS2	THYM	chr3	45542026	45542026	G	T	Missense_Mutation		1
LARS2	COAD	chr3	45557610	45557610	C	T	Missense_Mutation	p.T629M	1
LARS2	LUAD	chr3	45537832	45537832	A	G	Missense_Mutation	p.Y530C	1
LARS2	SKCM	chr3	45441779	45441779	C	T	Missense_Mutation	p.P93S	1
LARS2	THYM	chr3	45542026	45542026	G	T	Missense_Mutation	p.R572I	1
LARS2	COAD	chr3	45557663	45557663	G	A	Missense_Mutation	p.G647R	1
LARS2	LUSC	chr3	45458977	45458977	A	G	Missense_Mutation	p.I123V	1
LARS2	SKCM	chr3	45557692	45557692	G	A	Silent	p.Q656Q	1
LARS2	ACC	chr3	45589017	45589017	G	T	Missense_Mutation	p.D903Y	1
LARS2	ESCA	chr3	45500280	45500280	G	T	Nonsense_Mutation	p.E218X	1
LARS2	PAAD	chr3	45533136	45533136	G	A	Missense_Mutation	p.G456D	1
LARS2	STAD	chr3	45515795	45515795	C	T	Missense_Mutation	p.H271Y	1
LARS2	CESC	chr3	45554648	45554648	G	T	Silent		1
LARS2	KIRP	chr3	45559536	45559536	G	T	Missense_Mutation		1
LARS2	THYM	chr3	45588892	45588892	G	A	Missense_Mutation	p.R861Q	1
LARS2	SKCM	chr3	45461192	45461192	C	T	Missense_Mutation	p.R163C	1
LARS2	COAD	chr3	45557707	45557707	G	A	Silent	p.T661T	1
LARS2	LUSC	chr3	45530201	45530201	C	G	Missense_Mutation	p.T379S	1
LARS2	BLCA	chr3	45441783	45441783	C	G	Missense_Mutation		1
LARS2	PAAD	chr3	45533136	45533136	G	A	Missense_Mutation		1
LARS2	STAD	chr3	45527238	45527238	T	A	Missense_Mutation	p.V358D	1
LARS2	UCS	chr3	45537860	45537860	A	G	Silent		1
LARS2	LGG	chr3	45441826	45441826	C	T	Silent	p.S108S	1
LARS2	LUSC	chr3	45588957	45588957	C	T	Nonsense_Mutation	p.R883*	1
LARS2	LIHC	chr3	45515839	45515839	A	-	Frame_Shift_Del	p.L285fs	1
LARS2	GBM	chr3	45554637	45554637	C	G	Missense_Mutation		1
LARS2	STAD	chr3	45554625	45554625	A	C	Splice_Site	p.R587_splice	1
LARS2	CESC	chr3	45537785	45537785	G	T	Missense_Mutation		1
LARS2	LGG	chr3	45559560	45559560	C	A	Missense_Mutation		1
LARS2	UCEC	chr3	45533245	45533245	C	-	Frame_Shift_Del	p.G492fs	1
LARS2	OV	chr3	45534562	45534562	C	G	Missense_Mutation	p.I736M	1
LARS2	STAD	chr3	45527224	45527224	G	T	Missense_Mutation	p.Q353H	1
LARS2	DLBC	chr3	45459030	45459030	C	T	Silent	p.V140V	1
LARS2	LIHC	chr3	45542039	45542039	T	-	Frame_Shift_Del	p.H576fs	1
LARS2	BLCA	chr3	45459030	45459030	C	A	Silent		1
LARS2	HNSC	chr3	45500356	45500356	T	G	Missense_Mutation		1
LARS2	STAD	chr3	45435951	45435951	T	G	Silent	p.A2A	1
LARS2	CESC	chr3	45559405	45559405	C	A	Silent		1
LARS2	LIHC	chr3	45541977	45541977	T	C	Silent		1
LARS2	OV	chr3	45534528	45534528	C	T	Missense_Mutation	p.A725V	1
LARS2	STAD	chr3	45559430	45559430	C	T	Nonsense_Mutation	p.R694X	1
LARS2	ESCA	chr3	45500280	45500280	G	T	Nonsense_Mutation	p.E218*	1
LARS2	LIHC	chr3	45435972	45435972	T	-	Frame_Shift_Del	p.G9fs	1
LARS2	HNSC	chr3	45515749	45515749	G	A	Silent		1
LARS2	READ	chr3	45441742	45441742	G	A	Silent	p.S80S	1
LARS2	STAD	chr3	45559430	45559430	C	T	Nonsense_Mutation	p.R694*	1
LARS2	CESC	chr3	45441741	45441741	C	T	Missense_Mutation	p.S80L	1
LARS2	LIHC	chr3	45500289	45500289	G	T	Missense_Mutation		1
LARS2	OV	chr3	45518043	45518043	C	T	Silent	p.I314	1
LARS2	STAD	chr3	45554625	45554625	A	C	Splice_Site	.	1
LARS2	ESCA	chr3	45530292	45530292	C	T	Silent	p.S409	1
LARS2	LIHC	chr3	45557654	45557654	A	-	Frame_Shift_Del	p.K644fs	1
LARS2	BLCA	chr3	45533153	45533153	G	T	Missense_Mutation		1
LARS2	HNSC	chr3	45518073	45518073	C	A	Missense_Mutation		1
LARS2	SARC	chr3	45530242	45530242	G	T	Missense_Mutation		1
LARS2	STAD	chr3	45561788	45561788	G	A	Silent	p.S764S	1

Copy number variation (CNV) of LARS2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across LARS2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
99756	LIHC	TCGA-2Y-A9H0-01A	DAG1	chr3	49548252	+	LARS2	chr3	45588843	+
96765	DLBC	TCGA-FA-8693-01A	LARS2	chr3	45542071	+	ANO10	chr3	43408466	-
98073	Non-Cancer	TCGA-BH-A18R-11A	LARS2	chr3	45565600	+	LIMD1	chr3	45677642	+
98980	UCEC	TCGA-B5-A1MS-01B	LARS2	chr3	45500378	+	SACM1L	chr3	45754629	+
44167	PRAD	TCGA-HC-7233-01A	LARS2	chr3	45500378	-	SEC22A	chr3	122978371	+
96038	DLBC	TCGA-FA-A4XK-01A	LARS2	chr3	45461221	+	TBL1XR1	chr3	176769514	-
99756	LUAD	TCGA-78-7147-01A	LIMD1	chr3	45707209	+	LARS2	chr3	45565489	+
99756	LUSC	TCGA-68-8251-01A	LIMD1	chr3	45637779	-	LARS2	chr3	45488383	+
99756	STAD	TCGA-BR-4357-01A	LIMD1	chr3	45637779	-	LARS2	chr3	45557586	+
99756	N/A	AA482999	NAA15	chr4	140334120	+	LARS2	chr3	45590329	-
99756	BLCA	TCGA-BL-A0C8-01A	NVL	chr1	224492736	-	LARS2	chr3	45583321	+
99758	N/A	EC488911	XRCC4	chr5	82457053	+	LARS2	chr3	45332725	+

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LUAD	LARS2	0.00194868066627973	0.055
TGCT	LARS2	0.00225735171145716	0.061
LUSC	LARS2	0.0190406924317747	0.5

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LIHC	LARS2	0.00252335187398299	0.083
UCS	LARS2	0.0481340116067523	1

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Related Drugs

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0685838	Gonadal dysgenesis XX type deafness	10	CLINGEN;GENOMICS_ENGLAND;ORPHANET
C3809105	PERRAULT SYNDROME 4	3	GENOMICS_ENGLAND;UNIPROT
C0005586	Bipolar Disorder	1	PSYGENET
C0036341	Schizophrenia	1	PSYGENET
C4310761	HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT