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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: AARS2 (NCBI Gene ID:57505)

Gene Summary

Gene Summary

Gene Information	Gene Name: AARS2
	Gene ID: 57505
	Gene Symbol	AARS2
	Gene ID	57505
	Gene Name	alanyl-tRNA synthetase 2, mitochondrial
	Synonyms	AARSL\|COXPD8\|LKENP\|MT-ALARS\|MTALARS
	Cytomap	6p21.1
	Type of Gene	protein-coding
	Description	alanine--tRNA ligase, mitochondrialalanine tRNA ligase 2, mitochondrial (putative)alanyl-tRNA synthetase 2, mitochondrial (putative)alanyl-tRNA synthetase likeprobable alanyl-tRNA synthetase, mitochondrial
	Modification date	20200313
	UniProtAcc	Q5JTZ9

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

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
AARS2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'AARS2[title] AND translation [title] AND human.'

Gene	Title	PMID
AARS2	.	.

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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
ENST00000244571	44268892	44269003	In-frame
ENST00000244571	44270127	44270250	In-frame
ENST00000244571	44270538	44270647	Frame-shift
ENST00000244571	44270802	44270912	Frame-shift
ENST00000244571	44274230	44274269	In-frame
ENST00000244571	44274985	44275131	Frame-shift
ENST00000244571	44278035	44278180	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)
ENST00000244571	44268892	44269003	3871	2686	2796	985	894	931
ENST00000244571	44270127	44270250	3871	2368	2490	985	788	829
ENST00000244571	44274230	44274269	3871	1153	1191	985	383	396

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.
Q5JTZ9	788	829	24	985	Chain	ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial
Q5JTZ9	383	396	24	985	Chain	ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial
Q5JTZ9	894	931	24	985	Chain	ID=PRO_0000250725;Note=Alanine--tRNA ligase%2C mitochondrial

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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
KICH	AARS2	-2.31768723359367	0.0202749371528625
STAD	AARS2	-1.76137677340716	0.0309218638576567
READ	AARS2	-4.47309691521386	0.03125
KIRC	AARS2	-2.08791591778506	1.34982341725314e-05
LUAD	AARS2	-1.13184780275806	3.14839627300049e-06
LUSC	AARS2	-3.02750518980713	7.62928128876544e-08

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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
READ	AARS2	1	2	0.014486418652956	0.178369696969697	0.217783246753247	0.248404299864906	0.469039934785493

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

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with AARS2 (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	AARS2	SI	0.823176662	3.91E-12
CHOL	Cell metabolism gene	AARS2	POLR1C	0.834951305	1.01E-12
CHOL	CGC	AARS2	HSP90AB1	0.809403336	1.69E-11
CHOL	CGC	AARS2	TRIM27	0.900388562	3.84E-17
CHOL	Epifactor	AARS2	TAF8	0.878056396	2.36E-15
CHOL	Epifactor	AARS2	TRIM27	0.900388562	3.84E-17
CHOL	IUPHAR	AARS2	HSP90AB1	0.809403336	1.69E-11
CHOL	TF	AARS2	DMRTB1	0.811854636	1.32E-11
CHOL	TSG	AARS2	FRS3	0.824565095	3.35E-12
PRAD	Cell metabolism gene	AARS2	PPP2R5D	0.82672333	5.34E-139

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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	AARS2	LARS2	-3.14243034518345	0.00019507110118866
KICH	AARS2	NARS	1.07442061729154	0.000249803066253662
STAD	AARS2	YARS	-6.49411565641968	0.000280400272458792
HNSC	AARS2	YARS	1.29642872422682	0.000481783007217019
THCA	AARS2	LARS2	1.46480152873302	0.000495104848866816
STAD	AARS2	EPRS	-1.48171581324647	0.000789262883452143
LUAD	AARS2	NARS	-1.22666458579243	0.00134906742748461
HNSC	AARS2	HARS	-2.05994086045496	0.00315447678462988
CHOL	AARS2	MARS	-4.58890181072108	0.00390625
KIRP	AARS2	HARS	-3.70132649523515	0.00828406633809209
HNSC	AARS2	GARS	1.31758956739856	0.0139046201916244
STAD	AARS2	IARS2	-1.36774073274524	0.0324882394634187
CHOL	AARS2	NARS	-7.86696864946951	0.0390625
BRCA	AARS2	LARS2	-5.48583270161281	1.12177735729832e-06
LUAD	AARS2	HARS	-1.63766770445137	1.3051538867775e-06
PRAD	AARS2	DARS2	-1.56775852251162	1.35699423901536e-06
THCA	AARS2	YARS	-1.52851760350795	1.38467683131598e-09
LIHC	AARS2	EPRS	-7.10731017811505	2.28054594243154e-08
KIRC	AARS2	NARS	-2.40040204492647	2.49674919862186e-10
BRCA	AARS2	IARS2	1.50870900515201	2.53632294696759e-14
LUAD	AARS2	LARS2	-1.17851720308655	2.81164525558733e-06
KICH	AARS2	YARS	-2.00632816869948	2.98023223876953e-07
BRCA	AARS2	YARS	-2.58863291399932	3.63754942015711e-21
KICH	AARS2	LARS2	1.44112931619469	4.17232513427734e-06
BRCA	AARS2	MARS	-2.42525133735396	4.72741245870012e-27
LUAD	AARS2	DARS	-10.3544740392178	5.31997757053803e-10
LIHC	AARS2	NARS	-3.55177423456569	7.34047974405276e-07
LIHC	AARS2	MARS	-3.13394077995853	7.36800472650994e-09
KIRP	AARS2	MARS	-1.35870938193596	7.40401446819306e-05
THCA	AARS2	GARS	-1.56246373012062	8.23769499323433e-10
PRAD	AARS2	EPRS	-1.76339127457265	9.52775218277559e-05

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

PPI interactors with AARS2

YWHAQ, CCDC8, RNF2, BMI1, ARHGEF26, FGL1, DHRS4L2, MRPL4, RARS2, ZNRF1, OXLD1, FBXW11, NTRK1, RAP1B, FOXB1, FOXL1, SUCLG1, EPHA1, SCGB1D1, CD70, NDUFS7, APP, RBM3, TRMT1, IL1R2, DLST, SDHA, CFTR, LEO1, MRPS16, MRPS5, PSMB6, CDC34, ESR2, MRM1, HSPD1, PDK1, KIAA1429, DISC1, DIABLO, GRPEL1, IARS2, ALDH1B1, ALDH2, UBA1, VBP1, YWHAE, YWHAH, IRF2, BCL2L14, NT5C3A, TNFRSF10A, LMBR1L, TRIM28, EHHADH, PLEKHA4, ORF7b, IMMP2L, HSCB, GRSF1, ACAD9, AUH, C12orf65, C17orf80, C21orf33, C6orf203, MCUR1, GFM1, HINT2, MDH2, METTL17, MRRF, MTG1, MTG2, MTIF2, MTRF1, MTRF1L, PMPCA, PMPCB, RPUSD4, SSBP1, TBRG4, C19orf52, TSFM, TUFM, EXD2, MKI67, CLPP, BRD4, AASS, ABCB10, ABCB7, ABHD10, ACADVL, ACAT1, ACOT1, ACOT2, ACOT9, AFG3L2, AK3, AK4, ALAS1, ANGEL2, ATAD3A, ATP5A1, ATP5B, ATP5C1, ATPIF1, ATP5J2-PTCD1, ATP5J, ATPAF1, BCKDHA, C1QBP, C8orf82, CARS2, CDK5RAP1, CLPX, CNP, COQ5, ADCK3, CORO7-PAM16, COX4I1, CS, DARS2, DBT, DDX28, DHTKD1, DHX30, DLAT, DLD, DNAJA3, EARS2, ECH1, ECHS1, ECSIT, ELAC2, ERAL1, ETFA, ETFB, FASTKD1, FASTKD2, FASTKD5, FDX1, FLAD1, GARS, GATB, GCDH, GLS, GLUD1, GTPBP10, GUF1, HADHA, HARS2, HSD17B10, HSDL2, HSPA9, HSPE1, IBA57, IDH2, IDH3B, KARS, KIAA0391, LARS2, LETM1, LONP1, LRPPRC, LYPLAL1, ME2, METTL15, MGME1, MMAB, RNMTL1, MRPL10, MRPL12, MRPL19, MRPL20, MRPL24, MRPL37, MRPL40, MRPL41, MRPL42, MRPL44, MRPL45, MRPL46, MRPL48, MRPL50, MRPL55, ICT1, MRPS11, MRPS14, MRPS17, MRPS22, MRPS24, MRPS26, MRPS27, MRPS28, MRPS31, MRPS34, MRPS35, MRPS36, MRPS6, MRPS7, MRPS9, MTERF3, MTHFD1L, MTHFD2, MTO1, MTPAP, NDUFA10, NDUFA12, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF4, NDUFAF5, NDUFAF7, NDUFS1, NDUFS2, NDUFS3, NDUFS6, NDUFV2, NDUFV3, NFS1, NGRN, NIPSNAP1, NME4, NNT, NOA1, NT5DC2, NUBPL, NUDT19, OAT, OXA1L, OXSM, PDE12, PDHA1, PDK2, PDK3, PDP1, PDPR, PHB, PHB2, PNPLA8, PNPT1, POLDIP2, POLG, POLRMT, PPA2, PPIF, PREPL, PTCD3, PTPMT1, PUS1, PYCR1, PYCR2, QRSL1, RBFA, RTN4IP1, ACN9, SDHB, SHMT2, SLC30A9, STOML2, SUCLA2, SUCLG2, SUPV3L1, TACO1, TARS2, TCAIM, TEFM, TFAM, TFB2M, THEM4, THNSL1, TIMM44, TOP3A, TRAP1, TRMT10C, TRMT2B, TRMT5, TRMT61B, C10orf2, UQCC1, UQCRB, UQCRFS1, USP30, VARS2, VWA8, YARS2, ACADSB, TRMT11, COX8A, SEC61B, EFNB1, COQ7, PFDN5, COQ3, PTRH1, GPR17, FPR1, PTCD1, BCL2L12, SHC2, FTSJ2, FAHD1, AMACR, ACSM5, ACAA2, FBXW7,

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Mutations

Clinically associated variants from ClinVar.

Gene

Chr

Position

RefSeq

VarSeq

RefSeeq

VarType

Pathogenic

Disease

VarInfo

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
AARS2	UCEC	chr6	44272437	44272437	G	A	Missense_Mutation	p.A566V	5
AARS2	STAD	chr6	44272877	44272877	G	A	Missense_Mutation	p.A498V	5
AARS2	PAAD	chr6	44270564	44270564	G	A	Missense_Mutation	p.A780V	4
AARS2	BRCA	chr6	44278884	44278884	C	T	Missense_Mutation	p.R199H	4
AARS2	KIRP	chr6	44272835	44272835	T	A	Missense_Mutation	p.D512V	4
AARS2	LIHC	chr6	44278774	44278774	G	-	Frame_Shift_Del	p.Q236fs	3
AARS2	LIHC	chr6	44273478	44273478	G	A	Missense_Mutation	p.P449L	3
AARS2	PAAD	chr6	44279892	44279892	G	T	Missense_Mutation	p.L118M	3
AARS2	UCEC	chr6	44271961	44271961	G	T	Missense_Mutation	p.S655Y	3
AARS2	PAAD	chr6	44272508	44272508	G	A	Silent	p.D542D	3
AARS2	BRCA	chr6	44274674	44274674	C	G	Missense_Mutation	p.V379L	3
AARS2	SKCM	chr6	44274758	44274758	G	A	Missense_Mutation	p.R351C	3
AARS2	BRCA	chr6	44274746	44274746	G	A	Missense_Mutation	p.R355C	3
AARS2	PAAD	chr6	44274124	44274124	G	T	Missense_Mutation	p.A398D	3
AARS2	HNSC	chr6	44272035	44272035	C	T	Silent	p.A630A	3
AARS2	LIHC	chr6	44272531	44272531	C	G	Missense_Mutation		3
AARS2	LIHC	chr6	44273478	44273478	G	A	Missense_Mutation		3
AARS2	SKCM	chr6	44274093	44274093	G	A	Silent	p.F408F	3
AARS2	ESCA	chr6	44279178	44279178	T	G	Missense_Mutation	p.K177T	3
AARS2	STAD	chr6	44270562	44270562	C	T	Missense_Mutation	p.V781I	2
AARS2	ESCA	chr6	44279946	44279946	G	A	Nonsense_Mutation	p.R100*	2
AARS2	LUAD	chr6	44272162	44272162	C	A	Missense_Mutation	p.D621Y	2
AARS2	SKCM	chr6	44274084	44274084	G	A	Silent	p.S411S	2
AARS2	HNSC	chr6	44273502	44273502	G	C	Nonsense_Mutation	p.S441*	2
AARS2	SARC	chr6	44278041	44278041	G	A	Nonsense_Mutation	p.Q297*	2
AARS2	ESCA	chr6	44272859	44272859	C	T	Missense_Mutation	p.R504H	2
AARS2	LGG	chr6	44270856	44270856	C	T	Silent	p.L734L	2
AARS2	BRCA	chr6	44274104	44274104	C	T	Missense_Mutation	p.E405K	2
AARS2	SARC	chr6	44271108	44271108	G	A	Missense_Mutation	p.A687V	2
AARS2	STAD	chr6	44271116	44271116	C	A	Silent	p.V684V	2
AARS2	ESCA	chr6	44274691	44274691	C	T	Missense_Mutation	p.G373D	2
AARS2	LUAD	chr6	44280862	44280862	G	A	Missense_Mutation	p.R67C	2
AARS2	COAD	chr6	44275060	44275060	G	A	Silent	p.R322R	2
AARS2	STAD	chr6	44275066	44275066	C	T	Silent	p.A320A	2
AARS2	ESCA	chr6	44274734	44274734	G	T	Missense_Mutation	p.R359S	2
AARS2	KIRC	chr6	44270864	44270864	G	A	Missense_Mutation	p.H732Y	2
AARS2	STAD	chr6	44272926	44272926	G	A	Missense_Mutation		2
AARS2	STAD	chr6	44268376	44268376	C	T	Missense_Mutation	p.G956S	2
AARS2	ESCA	chr6	44279178	44279178	T	G	Missense_Mutation		2
AARS2	LUAD	chr6	44278144	44278144	C	-	Frame_Shift_Del	p.R262fs	2
AARS2	UCEC	chr6	44268381	44268381	G	A	Missense_Mutation	p.A954V	2
AARS2	LIHC	chr6	44279864	44279864	T	A	Missense_Mutation	p.H127L	2
AARS2	STAD	chr6	44271076	44271076	C	T	Missense_Mutation		2
AARS2	LUAD	chr6	44270894	44270894	G	A	Missense_Mutation	p.R722W	2
AARS2	UCEC	chr6	44269164	44269164	G	A	Missense_Mutation	p.S879L	2
AARS2	LIHC	chr6	44272531	44272531	C	G	Missense_Mutation	p.V535L	2
AARS2	STAD	chr6	44272926	44272926	G	A	Missense_Mutation	p.R482W	2
AARS2	SKCM	chr6	44272529	44272529	C	T	Silent	p.V535V	2
AARS2	UCEC	chr6	44275060	44275060	G	A	Silent	p.R322	2
AARS2	LIHC	chr6	44272828	44272828	G	-	Frame_Shift_Del	p.P514fs	2
AARS2	STAD	chr6	44269806	44269806	T	G	Missense_Mutation	p.Q863H	2
AARS2	SKCM	chr6	44271982	44271982	G	A	Missense_Mutation	p.P648L	2
AARS2	UCEC	chr6	44279877	44279877	G	A	Nonsense_Mutation	p.R123*	2
AARS2	PAAD	chr6	44270564	44270564	G	A	Missense_Mutation		2
AARS2	SKCM	chr6	44272258	44272258	G	A	Missense_Mutation	p.P589S	2
AARS2	COAD	chr6	44269193	44269193	C	-	Frame_Shift_Del	p.K870fs	2
AARS2	HNSC	chr6	44275034	44275034	A	T	Missense_Mutation	p.L331H	2
AARS2	STAD	chr6	44279148	44279148	C	A	Missense_Mutation	p.R187M	2
AARS2	PAAD	chr6	44272508	44272508	G	A	Silent		2
AARS2	GBM	chr6	44270876	44270876	C	-	Frame_Shift_Del	p.V728fs	2
AARS2	HNSC	chr6	44279951	44279951	C	T	Missense_Mutation	p.G98D	2
AARS2	SARC	chr6	44269193	44269193	C	T	Silent		2
AARS2	STAD	chr6	44268923	44268923	C	-	Frame_Shift_Del	p.K922fs	2
AARS2	PAAD	chr6	44274124	44274124	G	T	Missense_Mutation		2
AARS2	KIRP	chr6	44272163	44272163	C	A	Silent		2
AARS2	SKCM	chr6	44279970	44279970	G	A	Missense_Mutation	p.P92S	2
AARS2	LIHC	chr6	44274253	44274253	T	C	Missense_Mutation		1
AARS2	LUSC	chr6	44273518	44273518	C	T	Missense_Mutation	p.V436M	1
AARS2	SKCM	chr6	44268344	44268344	G	A	Silent	p.S966S	1
AARS2	COAD	chr6	44272036	44272036	G	A	Missense_Mutation	p.A630V	1
AARS2	HNSC	chr6	44271136	44271136	G	A	Missense_Mutation	p.R678W	1
AARS2	SARC	chr6	44279265	44279265	G	T	Missense_Mutation		1
AARS2	BLCA	chr6	44279155	44279155	C	T	Missense_Mutation		1
AARS2	PAAD	chr6	44279892	44279892	G	T	Missense_Mutation		1
AARS2	KIRP	chr6	44270544	44270544	G	T	Missense_Mutation		1
AARS2	TGCT	chr6	44268395	44268395	G	A	Silent	p.H949H	1
AARS2	BLCA	chr6	44272425	44272425	C	-	Frame_Shift_Del	p.G570fs	1
AARS2	GBM	chr6	44270894	44270894	G	A	Missense_Mutation		1
AARS2	LUSC	chr6	44279966	44279966	C	T	Missense_Mutation	p.R93Q	1
AARS2	SKCM	chr6	44275008	44275008	A	T	Missense_Mutation	p.F340I	1
AARS2	COAD	chr6	44273413	44273413	G	A	Missense_Mutation	p.R471W	1
AARS2	STAD	chr6	44275091	44275091	G	A	Missense_Mutation	p.A312V	1
AARS2	BLCA	chr6	44278753	44278753	G	A	Silent		1
AARS2	LIHC	chr6	44280892	44280892	G	-	Frame_Shift_Del	p.R57fs	1
AARS2	LUAD	chr6	44272935	44272935	G	A	Splice_Site	p.H479_splice	1
AARS2	SKCM	chr6	44269818	44269818	G	A	Silent	p.I859I	1
AARS2	HNSC	chr6	44273412	44273412	C	T	Missense_Mutation		1
AARS2	LIHC	chr6	44272421	44272421	C	T	Silent	p.Q571Q	1
AARS2	LUSC	chr6	44279932	44279932	G	C	Missense_Mutation	p.N104K	1
AARS2	STAD	chr6	44272267	44272267	C	-	Frame_Shift_Del		1
AARS2	COAD	chr6	44274745	44274745	C	T	Missense_Mutation	p.R355H	1
AARS2	KIRC	chr6	44274036	44274036	C	A	Silent	p.G427G	1
AARS2	BLCA	chr6	44272425	44272425	C	-	Frame_Shift_Del		1
AARS2	LIHC	chr6	44271067	44271067	G	-	Frame_Shift_Del	p.L701fs	1
AARS2	LGG	chr6	44269151	44269151	C	G	Silent	p.L883L	1
AARS2	SKCM	chr6	44273479	44273479	G	A	Missense_Mutation	p.P449S	1
AARS2	HNSC	chr6	44271136	44271136	G	A	Missense_Mutation		1
AARS2	LIHC	chr6	44275036	44275036	T	A	Silent	p.T330T	1
AARS2	MESO	chr6	44268910	44268910	C	A	Missense_Mutation		1
AARS2	STAD	chr6	44278774	44278774	G	-	Frame_Shift_Del		1
AARS2	KIRC	chr6	44270802	44270802	C	A	Splice_Site	.	1
AARS2	SARC	chr6	44273432	44273432	T	C	Silent		1
AARS2	BLCA	chr6	44279886	44279886	C	G	Missense_Mutation		1
AARS2	LIHC	chr6	44279822	44279822	C	-	Frame_Shift_Del	p.G141fs	1
AARS2	LGG	chr6	44270856	44270856	C	T	Silent		1
AARS2	LUAD	chr6	44268383	44268383	C	G	Missense_Mutation	p.K953N	1
AARS2	UCEC	chr6	44269193	44269193	C	-	Frame_Shift_Del	p.K869fs	1
AARS2	HNSC	chr6	44275034	44275034	A	T	Missense_Mutation		1
AARS2	LIHC	chr6	44275037	44275037	G	A	Missense_Mutation	p.T330I	1
AARS2	MESO	chr6	44280989	44280989	G	C	Silent	p.G24G	1
AARS2	COAD	chr6	44279937	44279937	C	T	Missense_Mutation	p.A103T	1
AARS2	SARC	chr6	44271979	44271979	C	T	Missense_Mutation		1
AARS2	BLCA	chr6	44275017	44275017	C	A	Missense_Mutation	p.D337Y	1
AARS2	LIHC	chr6	44279851	44279851	A	-	Frame_Shift_Del	p.F131fs	1
AARS2	LIHC	chr6	44280885	44280885	A	C	Missense_Mutation		1
AARS2	SKCM	chr6	44278886	44278886	G	A	Silent	p.S198S	1
AARS2	HNSC	chr6	44279951	44279951	C	T	Missense_Mutation		1
AARS2	COAD	chr6	44274730	44274730	A	C	Missense_Mutation	p.F360C	1
AARS2	KIRC	chr6	44270802	44270802	C	A	Splice_Site		1
AARS2	MESO	chr6	44268910	44268910	C	A	Missense_Mutation	p.A926S	1
AARS2	SARC	chr6	44278041	44278041	G	A	Nonsense_Mutation		1
AARS2	STAD	chr6	44272267	44272267	C	-	Frame_Shift_Del	p.V586fs	1
AARS2	BLCA	chr6	44279135	44279135	C	T	Silent	p.L191L	1
AARS2	ESCA	chr6	44279946	44279946	G	A	Nonsense_Mutation	p.R100X	1
AARS2	KIRP	chr6	44278164	44278164	G	-	Frame_Shift_Del	p.L256fs	1
AARS2	LIHC	chr6	44268333	44268333	A	G	Missense_Mutation		1
AARS2	LUAD	chr6	44274243	44274243	C	A	Missense_Mutation	p.R392S	1
AARS2	SKCM	chr6	44269121	44269121	G	A	Silent	p.L893L	1
AARS2	CESC	chr6	44270171	44270171	G	A	Missense_Mutation		1
AARS2	HNSC	chr6	44272035	44272035	C	T	Silent		1
AARS2	DLBC	chr6	44270189	44270189	A	T	Missense_Mutation	p.L809Q	1
AARS2	OV	chr6	44387954	44387954	C	T	Missense_Mutation		1
AARS2	PRAD	chr6	44268380	44268380	C	T	Silent	p.A954A	1
AARS2	STAD	chr6	44278779	44278779	G	A	Missense_Mutation	p.A234V	1
AARS2	BLCA	chr6	44273474	44273474	C	T	Silent	p.L450L	1
AARS2	ESCA	chr6	44273413	44273413	G	T	Silent	p.R471R	1
AARS2	KIRP	chr6	44279883	44279883	C	T	Missense_Mutation	p.V121M	1
AARS2	LUAD	chr6	44270607	44270607	T	A	Missense_Mutation	p.I766F	1
AARS2	LIHC	chr6	44274241	44274241	T	C	Missense_Mutation		1
AARS2	LUAD	chr6	44278827	44278827	C	T	Missense_Mutation	p.C218Y	1
AARS2	SKCM	chr6	44272223	44272223	G	A	Silent	p.I600I	1
AARS2	COAD	chr6	44268966	44268966	G	A	Missense_Mutation	p.A907V	1
AARS2	DLBC	chr6	44279824	44279824	C	T	Silent	p.G140G	1
AARS2	OV	chr6	44272925	44272925	C	T	Missense_Mutation	p.R482Q	1
AARS2	PRAD	chr6	44272399	44272399	C	T	Missense_Mutation	p.V579M	1
AARS2	STAD	chr6	44271037	44271037	G	A	Missense_Mutation	p.R711C	1
AARS2	BLCA	chr6	44279155	44279155	C	T	Missense_Mutation	p.E185K	1
AARS2	ESCA	chr6	44272859	44272859	C	T	Missense_Mutation		1
AARS2	LUAD	chr6	44270227	44270227	C	A	Silent	p.L796L	1
AARS2	LUSC	chr6	44272836	44272836	C	T	Missense_Mutation	p.D512N	1
AARS2	SKCM	chr6	44268929	44268929	G	A	Silent	p.P919P	1
AARS2	COAD	chr6	44268985	44268985	G	A	Missense_Mutation	p.R901W	1
AARS2	HNSC	chr6	44275104	44275104	G	A	Nonsense_Mutation	p.R308*	1
AARS2	PRAD	chr6	44279880	44279880	C	A	Missense_Mutation	p.G122C	1
AARS2	BLCA	chr6	44275017	44275017	C	A	Missense_Mutation		1
AARS2	DLBC	chr6	44274068	44274068	G	A	Missense_Mutation	p.R417W	1
AARS2	LIHC	chr6	44272869	44272869	C	-	Frame_Shift_Del	p.E501fs	1
AARS2	KIRP	chr6	44272835	44272835	T	A	Missense_Mutation		1
AARS2	LUAD	chr6	44270197	44270197	C	A	Silent	p.R806R	1
AARS2	STAD	chr6	44275065	44275065	A	G	Missense_Mutation	p.Y321H	1
AARS2	BLCA	chr6	44278753	44278753	G	A	Silent	p.L243L	1
AARS2	ESCA	chr6	44279946	44279946	G	A	Nonsense_Mutation		1
AARS2	LUSC	chr6	44271932	44271932	C	A	Missense_Mutation	p.D665Y	1
AARS2	SKCM	chr6	44273508	44273508	G	A	Missense_Mutation	p.S439F	1
AARS2	UCS	chr6	44272877	44272877	G	A	Missense_Mutation		1
AARS2	SARC	chr6	44271108	44271108	G	A	Missense_Mutation		1
AARS2	BLCA	chr6	44279135	44279135	C	T	Silent		1
AARS2	ESCA	chr6	44269193	44269193	C	-	Frame_Shift_Del	p.T871fs	1
AARS2	LIHC	chr6	44268923	44268923	C	-	Frame_Shift_Del	p.G921fs	1
AARS2	KIRP	chr6	44279226	44279226	C	A	Missense_Mutation		1
AARS2	LUAD	chr6	44278181	44278181	C	T	Splice_Site		1
AARS2	STAD	chr6	44274230	44274230	C	G	Splice_Site	p.Q396_splice	1
AARS2	BLCA	chr6	44280986	44280986	G	C	Silent	p.L25L	1
AARS2	LIHC	chr6	44279864	44279864	T	A	Missense_Mutation		1
AARS2	LUSC	chr6	44272023	44272023	G	T	Silent	p.A634A	1
AARS2	SKCM	chr6	44275042	44275042	G	A	Silent	p.I328I	1
AARS2	COAD	chr6	44271022	44271022	C	A	Splice_Site	.	1
AARS2	BLCA	chr6	44273474	44273474	C	T	Silent		1
AARS2	LIHC	chr6	44278107	44278107	C	-	Frame_Shift_Del	p.A275fs	1
AARS2	LUAD	chr6	44269129	44269129	C	G	Missense_Mutation	p.E891Q	1
AARS2	TGCT	chr6	44270870	44270870	C	T	Missense_Mutation		1
AARS2	BLCA	chr6	44279886	44279886	C	G	Missense_Mutation	p.D120H	1
AARS2	GBM	chr6	44268962	44268962	G	C	Silent	p.P908P	1

Copy number variation (CNV) of AARS2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across AARS2
* 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
86	N/A	BF766239	AARS2	chr6	44273512	+	MT1A	chr16	56672578	+
59376	N/A	AW847517	AARS2	chr6	44272402	-	RETSAT	chr2	85570959	+
83345	N/A	BF947427	AARS2	chr6	44276941	+	SLC25A12	chr2	172650608	+
102207	ACC	TCGA-OR-A5J8	AARS2	chr6	44278035	-	SPATS1	chr6	44328182	+
102207	ACC	TCGA-OR-A5J8	AARS2	chr6	44278730	-	SPATS1	chr6	44328182	+
102207	ACC	TCGA-OR-A5J8-01A	AARS2	chr6	44278036	-	SPATS1	chr6	44328183	+
102207	ACC	TCGA-OR-A5J8-01A	AARS2	chr6	44278731	-	SPATS1	chr6	44328183	+
102911	N/A	BF829979	AARS2	chr6	44273322	-	TSPAN14	chr10	82278824	-
26071	ACC	TCGA-OR-A5J8-01A	EIF4H	chr7	73588771	+	AARS2	chr6	44279999	-
26071	ACC	TCGA-OR-A5J8-01A	EIF4H	chr7	73588772	+	AARS2	chr6	44280000	-

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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
BRCA	AARS2	0.00188936871919173	0.049
STAD	AARS2	0.00780904411144943	0.2
TGCT	AARS2	1.35633977508246e-05	0.00038
KIRC	AARS2	4.67756238718427e-05	0.0013

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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
BRCA	AARS2	0.00113118425997838	0.037
PAAD	AARS2	0.036612723806978	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
C3279793	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C4014588	LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
C1847967	OVARIOLEUKODYSTROPHY	1	ORPHANET
C3711381	Hereditary Diffuse Leukoencephalopathy with Spheroids	1	ORPHANET