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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: DARS2 (NCBI Gene ID:55157)

Gene Summary

Gene Summary

Gene Information	Gene Name: DARS2
	Gene ID: 55157
	Gene Symbol	DARS2
	Gene ID	55157
	Gene Name	aspartyl-tRNA synthetase 2, mitochondrial
	Synonyms	ASPRS\|LBSL\|MT-ASPRS\|mtAspRS
	Cytomap	1q25.1
	Type of Gene	protein-coding
	Description	aspartate--tRNA ligase, mitochondrialaspartate tRNA ligase 2, mitochondrialaspartyl-tRNA synthetase, mitochondrial
	Modification date	20200313
	UniProtAcc	Q6PI48

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	DARS2	GO:0043039	tRNA aminoacylation	15779907\|17384640
Hgene	DARS2	GO:0070145	mitochondrial asparaginyl-tRNA aminoacylation	23275545

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
DARS2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'DARS2[title] AND translation [title] AND human.'

Gene	Title	PMID
DARS2	.	.

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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
ENST00000361951	173797470	173797537	Frame-shift
ENST00000361951	173799797	173799899	In-frame
ENST00000361951	173800672	173800768	In-frame
ENST00000361951	173802513	173802637	Frame-shift
ENST00000361951	173803610	173803657	Frame-shift
ENST00000361951	173806077	173806184	Frame-shift
ENST00000361951	173810003	173810111	In-frame
ENST00000361951	173814366	173814429	In-frame
ENST00000361951	173819464	173819617	In-frame
ENST00000361951	173822932	173823043	In-frame

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)
ENST00000361951	173799797	173799899	3523	1022	1123	645	98	132
ENST00000361951	173800672	173800768	3523	1124	1219	645	132	164
ENST00000361951	173810003	173810111	3523	1748	1855	645	340	376
ENST00000361951	173814366	173814429	3523	1856	1918	645	376	397
ENST00000361951	173819464	173819617	3523	1919	2071	645	397	448
ENST00000361951	173822932	173823043	3523	2291	2401	645	521	558

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.
Q6PI48	132	164	48	645	Chain	ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial
Q6PI48	98	132	48	645	Chain	ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial
Q6PI48	521	558	48	645	Chain	ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial
Q6PI48	376	397	48	645	Chain	ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial
Q6PI48	340	376	48	645	Chain	ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial
Q6PI48	397	448	48	645	Chain	ID=PRO_0000250736;Note=Aspartate--tRNA ligase%2C mitochondrial
Q6PI48	521	558	535	535	Binding site	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q6PI48	521	558	542	542	Binding site	Note=Aspartate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q6PI48	376	397	382	382	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q6PI48	132	164	152	152	Natural variant	ID=VAR_037016;Note=In LBSL. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17384640;Dbxref=dbSNP:rs121918208,PMID:17384640

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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
PRAD	DARS2	-1.56775852251162	1.35699423901536e-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
LIHC	DARS2	hsa-let-7f-5p	61	0.305825753194174	0.00703553197165803

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

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
ESCA	DARS2	0.052577413	0.020985239
DLBC	DARS2	0.03246677	0.041424697

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with DARS2 (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	DARS2	GNPAT	0.800855218	3.97E-11
CHOL	TF	DARS2	ZBTB41	0.823944229	3.59E-12
DLBC	Epifactor	DARS2	ANP32E	0.800497417	8.57E-12
DLBC	Epifactor	DARS2	UCHL5	0.864474125	2.44E-15

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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	DARS2	YARS	-6.49411565641968	0.000280400272458792
KIRP	DARS2	EARS2	2.04485161641576	0.000364991836249828
HNSC	DARS2	YARS	1.29642872422682	0.000481783007217019
STAD	DARS2	AARS	-1.37044043826934	0.000657554250210524
STAD	DARS2	EPRS	-1.48171581324647	0.000789262883452143
LUSC	DARS2	RARS2	1.87851633718952	0.00105278618568408
HNSC	DARS2	YARS2	1.51758504797514	0.00498432417884942
KIRP	DARS2	RARS2	-1.62015129839089	0.00733334058895707
ESCA	DARS2	YARS2	-2.00710684466974	0.0185546875
KICH	DARS2	AARS2	-2.31768723359367	0.0202749371528625
STAD	DARS2	AARS2	-1.76137677340716	0.0309218638576567
READ	DARS2	AARS2	-4.47309691521386	0.03125
KIRC	DARS2	AARS2	-2.08791591778506	1.34982341725314e-05
THCA	DARS2	YARS	-1.52851760350795	1.38467683131598e-09
LUAD	DARS2	SARS2	-1.6825303693262	1.52668366875458e-07
LIHC	DARS2	EPRS	-7.10731017811505	2.28054594243154e-08
KICH	DARS2	YARS	-2.00632816869948	2.98023223876953e-07
LUAD	DARS2	AARS2	-1.13184780275806	3.14839627300049e-06
LUSC	DARS2	EARS2	-4.79437223180067	3.23227619897643e-09
BRCA	DARS2	YARS	-2.58863291399932	3.63754942015711e-21
LUAD	DARS2	EARS2	-4.660053370012	3.79251210274868e-11
BLCA	DARS2	EARS2	-4.74352280775662	3.814697265625e-06
STAD	DARS2	EARS2	-1.69983591205674	4.39747236669064e-05
LUAD	DARS2	AARS	-6.1139400689607	4.40386642176516e-08
LUAD	DARS2	DARS	-10.3544740392178	5.31997757053803e-10
LUSC	DARS2	AARS2	-3.02750518980713	7.62928128876544e-08
KIRC	DARS2	SARS2	1.02423405449982	8.65930768143138e-05
PRAD	DARS2	EPRS	-1.76339127457265	9.52775218277559e-05

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

PPI interactors with DARS2

KARS, AIMP2, TERF2, EPHA8, DPYSL5, DCP2, ARHGEF26, PLAUR, LOC554223, NARS2, FNTA, POR, RPA2, NTRK1, FOXB1, FOXH1, FOXI2, FOXL1, FOXL2, GAPDHS, YBEY, LAMP3, MRPL12, HSPD1, BBS1, ZUFSP, EFTUD2, RNF123, RECQL4, AIFM1, MRM1, PDK1, TRMT61B, PHB, NR2C2, KRAS, Dppa3, BIRC3, LMBR1L, SYVN1, Hsp22, TRIM28, SQSTM1, CYB561, ALDH18A1, FETUB, PLP2, CDIPT, UNC50, AOC3, THSD7B, TSPAN33, COL8A2, TMEM239, PLEKHA4, FBXO15, M, nsp4, HSCB, KIF14, AUH, C1QBP, C21orf33, MCUR1, MTG2, MTIF2, MTRF1L, SSBP1, EXD2, nsp13ab, DNAJA3, DNAJC2, UFL1, AARS2, COX8A, CS, PDHA1, TRAP1, FEM1A, LCN1, UQCRFS1, BPNT1, MALSU1, CCL4L1, OCIAD1, METTL20, SLC25A10, MRPL21, CBR4, MRPS2, C20orf96, MRPS24, GCAT, GLYATL1, ABHD10, ACAA2, YARS2, NIPSNAP3A, RASL10B, OXCT2, AK4, MYL10, QRSL1, FAHD1, MRPS30, KLHL20, AMACR, SHC2, LDHAL6B, ACSM5, TRMU, NDUFS7, FTSJ2, TRIM43, FSCN1, OPTN,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
DARS2	chr1	173793825	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
DARS2	chr1	173793835	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
DARS2	chr1	173793846	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
DARS2	chr1	173793880	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
DARS2	chr1	173794149	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
DARS2	chr1	173794221	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
DARS2	chr1	173794387	T	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
DARS2	chr1	173794396	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173794424	A	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173794478	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173794495	G	A	single_nucleotide_variant	Pathogenic	Inborn_genetic_diseases	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
DARS2	chr1	173794521	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794576	A	AT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794586	C	CTATTATTATTAT	Insertion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794586	C	CTATTATTATTATTAT	Insertion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794587	C	CATT	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794587	C	CATTATT	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794587	C	CATTATTATT	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794587	C	CATTATTATTATT	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794587	CATTATTATT	C	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794666	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173794797	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795802	TC	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795803	C	CT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795803	C	CTT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795803	C	CTTT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795803	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795803	CTT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795804	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795820	T	A	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795821	A	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795830	A	G	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173795855	CAT	C	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
DARS2	chr1	173795869	C	G	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173795881	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173795885	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173795920	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
DARS2	chr1	173795952	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795952	GC	TT	Indel	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173795953	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173796169	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797226	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797447	C	CT	Duplication	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797447	CT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797449	T	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797450	T	TC	Insertion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797450	TT	C	Indel	Pathogenic	Hypertensive_disorder\|Dysmetria\|Gout\|Abnormal_foot_morphology\|Clubfoot\|Gait_ataxia\|Cerebral_cortical_atrophy\|Gait_imbalance\|Impaired_vibration_sensation_in_the_lower_limbs\|Difficulty_walking\|EMG:_axonal_abnormality\|Sensorimotor_neuropathy\|CNS_demyelinatio	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797451	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797451	T	CC	Indel	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797451	T	TC	Duplication	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797451	TC	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797452	C	T	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797454	C	G	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797455	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797455	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797456	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797456	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797457	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797458	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797459	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797459	C	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797461	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797461	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173797472	CA	C	Deletion	Pathogenic	Spastic_ataxia	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
DARS2	chr1	173797502	G	A	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173797504	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173797752	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173799806	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173799877	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173799883	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173799901	T	G	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
DARS2	chr1	173799956	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173800211	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173800631	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173800667	T	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173800692	T	C	single_nucleotide_variant	Likely_pathogenic	Spastic_ataxia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173800728	C	A	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173800731	G	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173800745	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173800749	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173800770	T	C	single_nucleotide_variant	Pathogenic	Hypertensive_disorder\|Dysmetria\|Gout\|Abnormal_foot_morphology\|Clubfoot\|Gait_ataxia\|Cerebral_cortical_atrophy\|Gait_imbalance\|Impaired_vibration_sensation_in_the_lower_limbs\|Difficulty_walking\|EMG:_axonal_abnormality\|Sensorimotor_neuropathy\|CNS_demyelinatio	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
DARS2	chr1	173802208	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173802433	GA	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173802511	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173802513	G	C	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
DARS2	chr1	173802524	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802526	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802529	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802530	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802548	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802557	G	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802570	G	A	single_nucleotide_variant	Likely_pathogenic	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802583	C	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
DARS2	chr1	173802584	G	A	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802588	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173802601	G	A	single_nucleotide_variant	Benign/Likely_benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802608	A	G	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173802631	C	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173803656	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173803665	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173803882	T	TC	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173803883	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173803883	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173803920	G	GT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173803920	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173803920	GT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173806057	CTCTT	C	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173806082	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173806156	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173806156	C	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
DARS2	chr1	173806175	G	A	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173806410	T	TA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173806410	TA	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173807157	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173807342	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173807344	C	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
DARS2	chr1	173807345	G	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173807386	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173807391	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173807552	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173808465	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173808516	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173808603	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173808608	CT	C	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
DARS2	chr1	173808677	G	A	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173808682	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173808690	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173809956	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173810046	T	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173810075	TG	T	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
DARS2	chr1	173810170	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173810239	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173814056	CGAGTAGCTGG	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173814103	TG	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173814224	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173814258	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173814420	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173814430	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
DARS2	chr1	173819157	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819421	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819435	AAC	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819436	AC	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819437	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819468	AT	A	Deletion	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
DARS2	chr1	173819514	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
DARS2	chr1	173819545	GG	C	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
DARS2	chr1	173819546	G	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
DARS2	chr1	173819578	A	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
DARS2	chr1	173819743	C	CT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819743	C	CTT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819743	CT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173819911	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173822221	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173822471	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173822491	C	CT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
DARS2	chr1	173822497	T	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
DARS2	chr1	173822532	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173822639	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173822643	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173822646	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173822700	A	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173822710	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173822920	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173822936	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173822937	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173822957	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173823011	C	A	single_nucleotide_variant	Benign/Likely_benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173823170	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173825667	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173825692	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173825844	A	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173825890	T	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173825898	T	G	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173825919	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DARS2	chr1	173826663	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173826667	C	G	single_nucleotide_variant	Likely_pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826673	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826705	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
DARS2	chr1	173826709	A	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826712	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826730	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826734	G	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826742	C	T	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826781	C	G	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826782	T	A	single_nucleotide_variant	Pathogenic	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
DARS2	chr1	173826995	A	C	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827011	C	T	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827053	T	C	single_nucleotide_variant	Benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827274	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827430	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827485	C	A	single_nucleotide_variant	Likely_benign	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827487	G	A	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
DARS2	chr1	173827496	T	G	single_nucleotide_variant	Uncertain_significance	Leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement-high_lactate_syndrome	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
DARS2	HNSC	chr1	173795824	173795824	G	A	Splice_Site		5
DARS2	BRCA	chr1	173808592	173808592	G	C	Missense_Mutation	p.D310H	4
DARS2	UCEC	chr1	173797501	173797501	C	T	Silent	p.F86	4
DARS2	PRAD	chr1	173822937	173822937	G	A	Missense_Mutation	p.R523H	4
DARS2	ESCA	chr1	173808541	173808541	A	G	Missense_Mutation	p.I293V	3
DARS2	ESCA	chr1	173807358	173807358	T	G	Missense_Mutation		3
DARS2	UCS	chr1	173794441	173794441	T	C	Missense_Mutation	p.I25T	3
DARS2	UCS	chr1	173810047	173810047	T	G	Missense_Mutation	p.F355C	3
DARS2	UCEC	chr1	173822697	173822697	C	T	Missense_Mutation	p.P519S	3
DARS2	LIHC	chr1	173814420	173814420	T	-	Frame_Shift_Del	p.H394fs	2
DARS2	UCEC	chr1	173819523	173819523	T	A	Missense_Mutation	p.F417Y	2
DARS2	LGG	chr1	173826739	173826739	G	A	Missense_Mutation	p.D612N	2
DARS2	BRCA	chr1	173826805	173826805	T	A	Missense_Mutation	p.S634T	2
DARS2	LIHC	chr1	173822962	173822962	A	-	Frame_Shift_Del	p.L531fs	2
DARS2	UCEC	chr1	173819555	173819555	A	G	Missense_Mutation	p.R428G	2
DARS2	STAD	chr1	173826789	173826789	C	A	Silent		2
DARS2	UCEC	chr1	173822993	173822993	C	T	Nonsense_Mutation	p.R542*	2
DARS2	LGG	chr1	173826739	173826739	G	A	Missense_Mutation		2
DARS2	STAD	chr1	173826826	173826826	G	T	Missense_Mutation		2
DARS2	CESC	chr1	173795921	173795921	G	A	Missense_Mutation		2
DARS2	ESCA	chr1	173808541	173808541	A	G	Missense_Mutation		2
DARS2	UCEC	chr1	173823017	173823017	C	T	Missense_Mutation	p.R550C	2
DARS2	BLCA	chr1	173795914	173795914	C	A	Missense_Mutation	p.Q73K	2
DARS2	STAD	chr1	173826789	173826789	C	A	Silent	p.P628P	2
DARS2	UCEC	chr1	173795869	173795869	C	T	Missense_Mutation	p.R58C	2
DARS2	CESC	chr1	173808631	173808631	G	A	Missense_Mutation		2
DARS2	UCEC	chr1	173825848	173825848	T	C	Silent	p.Y573	2
DARS2	BLCA	chr1	173795890	173795890	G	C	Missense_Mutation	p.E65Q	2
DARS2	STAD	chr1	173826826	173826826	G	T	Missense_Mutation	p.A641S	2
DARS2	LIHC	chr1	173803629	173803629	C	-	Frame_Shift_Del	p.T212fs	2
DARS2	ESCA	chr1	173814385	173814385	G	C	Missense_Mutation	p.D383H	2
DARS2	UCEC	chr1	173826729	173826729	C	T	Silent	p.F608	2
DARS2	STAD	chr1	173795873	173795873	C	T	Missense_Mutation	p.S59L	2
DARS2	UCEC	chr1	173803639	173803639	G	A	Silent	p.L215	2
DARS2	SKCM	chr1	173799875	173799875	C	T	Silent	p.S124S	2
DARS2	STAD	chr1	173807354	173807354	G	A	Missense_Mutation	p.R266Q	2
DARS2	BLCA	chr1	173810010	173810010	G	C	Missense_Mutation	p.D343H	2
DARS2	UCEC	chr1	173807388	173807388	G	T	Missense_Mutation	p.E277D	2
DARS2	SKCM	chr1	173808592	173808592	G	A	Missense_Mutation	p.D310N	2
DARS2	LIHC	chr1	173825830	173825830	G	A	Silent	p.L567L	2
DARS2	COAD	chr1	173822554	173822554	G	A	Missense_Mutation	p.R471H	2
DARS2	LUAD	chr1	173822600	173822600	C	G	Silent	p.L486L	2
DARS2	UCEC	chr1	173808504	173808504	G	C	Splice_Site	e10-1	2
DARS2	TGCT	chr1	173802622	173802622	C	A	Missense_Mutation	p.L201I	2
DARS2	LIHC	chr1	173797505	173797505	G	-	Frame_Shift_Del	p.G88fs	2
DARS2	UCEC	chr1	173810070	173810070	C	T	Missense_Mutation	p.P363S	2
DARS2	LIHC	chr1	173800706	173800706	A	-	Frame_Shift_Del	p.K144fs	2
DARS2	ESCA	chr1	173807358	173807358	T	G	Missense_Mutation	p.D267E	2
DARS2	UCEC	chr1	173819483	173819483	C	A	Missense_Mutation	p.L404I	2
DARS2	HNSC	chr1	173795878	173795878	C	T	Missense_Mutation	p.H61Y	2
DARS2	UCEC	chr1	173826754	173826754	A	G	Missense_Mutation	p.T617A	1
DARS2	BLCA	chr1	173826751	173826767	AATACCCCAGATTCTGT	-	Frame_Shift_Del	p.NTPDSV616fs	1
DARS2	LUAD	chr1	173799862	173799862	G	C	Missense_Mutation	p.G120A	1
DARS2	READ	chr1	173822638	173822638	C	T	Missense_Mutation	p.S499L	1
DARS2	BLCA	chr1	173810010	173810010	G	C	Missense_Mutation		1
DARS2	SKCM	chr1	173794417	173794417	C	T	Missense_Mutation	p.P17L	1
DARS2	UCEC	chr1	173808504	173808504	G	C	Splice_Site	p.I281_splice	1
DARS2	ESCA	chr1	173814385	173814385	G	C	Missense_Mutation		1
DARS2	LUSC	chr1	173806089	173806089	G	C	Missense_Mutation	p.E225D	1
DARS2	SARC	chr1	173814409	173814409	G	T	Missense_Mutation		1
DARS2	BLCA	chr1	173819496	173819496	G	T	Missense_Mutation		1
DARS2	LGG	chr1	173799819	173799819	A	G	Missense_Mutation	p.I106V	1
DARS2	UCEC	chr1	173799869	173799869	C	T	Silent	p.V122V	1
DARS2	LIHC	chr1	173806090	173806090	T	-	Frame_Shift_Del	p.F226fs	1
DARS2	LUSC	chr1	173826783	173826783	G	C	Silent	p.L626L	1
DARS2	SARC	chr1	173802555	173802555	G	T	Missense_Mutation		1
DARS2	BLCA	chr1	173806135	173806135	C	T	Nonsense_Mutation	p.Q241*	1
DARS2	UCEC	chr1	173810069	173810070	-	C	Frame_Shift_Ins	p.K362fs	1
DARS2	LIHC	chr1	173799820	173799820	T	-	Frame_Shift_Del	p.I106fs	1
DARS2	LUSC	chr1	173814391	173814391	G	A	Missense_Mutation	p.E385K	1
DARS2	SARC	chr1	173814412	173814412	G	T	Missense_Mutation		1
DARS2	LGG	chr1	173799819	173799819	A	G	Missense_Mutation		1
DARS2	LIHC	chr1	173802607	173802607	A	-	Frame_Shift_Del	p.K196fs	1
DARS2	ESCA	chr1	173825863	173825863	T	C	Silent	p.H578H	1
DARS2	LUSC	chr1	173802512	173802512	A	G	Splice_Site	p.K165_splice	1
DARS2	SARC	chr1	173800712	173800712	G	T	Missense_Mutation		1
DARS2	LIHC	chr1	173825830	173825830	G	A	Silent		1
DARS2	CESC	chr1	173795921	173795921	G	A	Missense_Mutation	p.R75Q	1
DARS2	SKCM	chr1	173814396	173814396	C	A	Silent	p.S386S	1
DARS2	BLCA	chr1	173808556	173808556	G	A	Missense_Mutation	p.E298K	1
DARS2	LIHC	chr1	173807364	173807364	T	C	Silent		1
DARS2	LUSC	chr1	173806114	173806114	G	T	Nonsense_Mutation	p.G234*	1
DARS2	CESC	chr1	173808631	173808631	G	A	Missense_Mutation	p.E323K	1
DARS2	LIHC	chr1	173806120	173806120	T	-	Frame_Shift_Del	p.F236fs	1
DARS2	HNSC	chr1	173795878	173795878	C	T	Missense_Mutation		1
DARS2	UCS	chr1	173810047	173810047	T	G	Missense_Mutation		1
DARS2	LIHC	chr1	173806173	173806173	C	T	Silent	p.G253G	1
DARS2	LUAD	chr1	173799891	173799891	G	C	Missense_Mutation	p.E130Q	1
DARS2	LUSC	chr1	173800688	173800688	G	T	Nonsense_Mutation	p.E138*	1
DARS2	COAD	chr1	173794477	173794477	C	A	Nonsense_Mutation	p.S37X	1
DARS2	BLCA	chr1	173795914	173795914	C	A	Missense_Mutation		1
DARS2	HNSC	chr1	173803656	173803656	G	T	Missense_Mutation		1
DARS2	UCS	chr1	173794441	173794441	T	C	Missense_Mutation		1
DARS2	TGCT	chr1	173802622	173802622	C	A	Missense_Mutation		1
DARS2	BLCA	chr1	173819496	173819496	G	T	Missense_Mutation	p.R408I	1
DARS2	BLCA	chr1	173826751	173826767	AATACCCCAGATTCTGT	-	Frame_Shift_Del		1
DARS2	SKCM	chr1	173794477	173794477	C	T	Missense_Mutation	p.S37L	1
DARS2	BLCA	chr1	173799818	173799818	G	C	Missense_Mutation	p.K105N	1
DARS2	DLBC	chr1	173822936	173822936	C	T	Missense_Mutation	p.R523C	1
DARS2	LUAD	chr1	173822626	173822626	G	A	Missense_Mutation	p.R495K	1
DARS2	READ	chr1	173806131	173806131	C	T	Silent	p.L239L	1
DARS2	BLCA	chr1	173795890	173795890	G	C	Missense_Mutation		1
DARS2	HNSC	chr1	173822554	173822554	G	A	Missense_Mutation		1
DARS2	SKCM	chr1	173799876	173799876	C	T	Missense_Mutation	p.R125C	1
DARS2	BLCA	chr1	173819576	173819576	G	T	Nonsense_Mutation	p.E435*	1
DARS2	LUAD	chr1	173799835	173799835	C	T	Missense_Mutation	p.P111L	1
DARS2	READ	chr1	173797501	173797501	C	T	Silent	p.F86F	1
DARS2	BLCA	chr1	173808556	173808556	G	A	Missense_Mutation		1
DARS2	SKCM	chr1	173822640	173822640	G	A	Missense_Mutation	p.A500T	1

Copy number variation (CNV) of DARS2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across DARS2
* 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
96561	LUSC	TCGA-22-1016-01A	CMBL	chr5	10307737	-	DARS2	chr1	173819465	+
29692	N/A	AK022713	DARS2	chr1	173827030	+	C20orf27	chr20	3748401	-
98580	N/A	CA495352	DARS2	chr1	173827066	+	NUP88	chr17	5315061	-
96561	ESCA	TCGA-L7-A56G	KLHL20	chr1	173703425	+	DARS2	chr1	173819464	+
96561	OV	TCGA-13-0897	KLHL20	chr1	173721061	+	DARS2	chr1	173825803	+
96561	BRCA	TCGA-BH-A1F6-01A	NOS1AP	chr1	162124266	+	DARS2	chr1	173795825	+
96561	UCS	TCGA-N5-A4RO	PRDX6	chr1	173450621	+	DARS2	chr1	173795825	+
96561	SKCM	TCGA-EE-A2ML-06A	RABGAP1L	chr1	174274265	+	DARS2	chr1	173795825	+
96561	STAD	TCGA-VQ-A92D	RABGAP1L	chr1	174363283	+	DARS2	chr1	173814366	+
96575	BLCA	TCGA-G2-A3VY	UCK2	chr1	165797169	+	DARS2	chr1	173795824	+
96575	BLCA	TCGA-G2-A3VY-01A	UCK2	chr1	165797169	+	DARS2	chr1	173795825	+

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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
LAML	DARS2	0.00314434669678957	0.082
SARC	DARS2	0.00973370728882827	0.24
LUSC	DARS2	0.00977341814711247	0.24
THYM	DARS2	0.0462694427418749	1
ESCA	DARS2	0.0472248480135812	1
KICH	DARS2	0.0498970744357964	1
TGCT	DARS2	1.0177231734332e-05	0.00027
LUAD	DARS2	9.2537428230076e-07	2.6e-05

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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
TGCT	DARS2	0.0144043144238188	0.48
THCA	DARS2	0.0453441645061819	1
KICH	DARS2	0.0245109311227599	0.76
LGG	DARS2	0.0271418750726735	0.81
CESC	DARS2	0.0271225631365021	0.81
UCEC	DARS2	0.0176685643610222	0.57
READ	DARS2	0.0289033144587742	0.81

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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
Q6PI48	DB00128	Aspartic acid		Small molecule	Approved\|Nutraceutical
Q6PI48	DB00128	Aspartic acid

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C1970180	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT