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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: IARS2 (NCBI Gene ID:55699)

Gene Summary

Gene Summary

Gene Information	Gene Name: IARS2
	Gene ID: 55699
	Gene Symbol	IARS2
	Gene ID	55699
	Gene Name	isoleucyl-tRNA synthetase 2, mitochondrial
	Synonyms	CAGSSS\|ILERS
	Cytomap	1q41
	Type of Gene	protein-coding
	Description	isoleucine--tRNA ligase, mitochondrialisoleucine tRNA ligase 2, mitochondrialisoleucine-tRNA synthetase 2, mitochondrialisoleucyl-tRNA synthetase, mitochondrialmitochondrial isoleucine tRNA synthetase
	Modification date	20200313
	UniProtAcc	Q9NSE4

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
IARS2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'IARS2[title] AND translation [title] AND human.'

Gene	Title	PMID
IARS2	.	.

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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
ENST00000366922	220298578	220298681	Frame-shift
ENST00000366922	220300091	220300185	Frame-shift
ENST00000366922	220307743	220307852	Frame-shift
ENST00000366922	220311259	220311385	In-frame
ENST00000366922	220312349	220312481	In-frame
ENST00000366922	220316285	220316476	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)
ENST00000366922	220311259	220311385	3574	2165	2290	1012	611	653
ENST00000366922	220312349	220312481	3574	2291	2422	1012	653	697

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.

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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	IARS2	-1.36774073274524	0.0324882394634187
BRCA	IARS2	1.50870900515201	2.53632294696759e-14

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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

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	IARS2	0.071666854	0.0073424
DLBC	IARS2	0.055968314	0.011228933
THCA	IARS2	0.454563338	0.028660937

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with IARS2 (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
ACC	Epifactor	IARS2	RBBP5	0.810563646	1.43E-19
CHOL	Epifactor	IARS2	RBBP5	0.816325862	8.24E-12
CHOL	IUPHAR	IARS2	ABCB10	0.801712075	3.65E-11
CHOL	IUPHAR	IARS2	ADIPOR1	0.863115878	2.43E-14
THCA	Cell metabolism gene	IARS2	EPRS	0.81624843	6.06E-138
THYM	Cell metabolism gene	IARS2	ADSS	0.807377589	2.87E-29
THYM	Cell metabolism gene	IARS2	TMLHE	0.811021958	1.02E-29
THYM	Cell metabolism gene	IARS2	MCCC2	0.814526685	3.73E-30
THYM	Cell metabolism gene	IARS2	HIF1A	0.821291249	4.97E-31
THYM	Cell metabolism gene	IARS2	L2HGDH	0.852143161	1.52E-35
THYM	Cell metabolism gene	IARS2	EPRS	0.917097134	9.36E-50
THYM	CGC	IARS2	CDC73	0.800940363	1.68E-28
THYM	CGC	IARS2	HIF1A	0.821291249	4.97E-31
THYM	Epifactor	IARS2	CDC73	0.800940363	1.68E-28
THYM	Epifactor	IARS2	BRCC3	0.816514801	2.08E-30
THYM	Epifactor	IARS2	ZNF687	0.850915605	2.40E-35
THYM	IUPHAR	IARS2	RPS6KC1	0.814744707	3.50E-30
THYM	Kinase	IARS2	RPS6KC1	0.814744707	3.50E-30
THYM	TF	IARS2	ZBTB41	0.818315991	1.22E-30
THYM	TF	IARS2	HIF1A	0.821291249	4.97E-31
THYM	TF	IARS2	ZNF687	0.850915605	2.40E-35
THYM	TSG	IARS2	CDC73	0.800940363	1.68E-28
THYM	TSG	IARS2	HIF1A	0.821291249	4.97E-31
UCS	Cell metabolism gene	IARS2	ADSS	0.807377589	2.87E-29
UCS	Cell metabolism gene	IARS2	TMLHE	0.811021958	1.02E-29
UCS	Cell metabolism gene	IARS2	MCCC2	0.814526685	3.73E-30
UCS	Cell metabolism gene	IARS2	HIF1A	0.821291249	4.97E-31
UCS	Cell metabolism gene	IARS2	L2HGDH	0.852143161	1.52E-35
UCS	Cell metabolism gene	IARS2	EPRS	0.917097134	9.36E-50
UCS	CGC	IARS2	CDC73	0.800940363	1.68E-28
UCS	CGC	IARS2	HIF1A	0.821291249	4.97E-31
UCS	Epifactor	IARS2	CDC73	0.800940363	1.68E-28
UCS	Epifactor	IARS2	BRCC3	0.816514801	2.08E-30
UCS	Epifactor	IARS2	ZNF687	0.850915605	2.40E-35
UCS	IUPHAR	IARS2	RPS6KC1	0.814744707	3.50E-30
UCS	Kinase	IARS2	RPS6KC1	0.814744707	3.50E-30
UCS	TF	IARS2	ZBTB41	0.818315991	1.22E-30
UCS	TF	IARS2	HIF1A	0.821291249	4.97E-31
UCS	TF	IARS2	ZNF687	0.850915605	2.40E-35
UCS	TSG	IARS2	CDC73	0.800940363	1.68E-28
UCS	TSG	IARS2	HIF1A	0.821291249	4.97E-31
UVM	Cell metabolism gene	IARS2	SRP54	0.801437501	4.31E-19
UVM	Cell metabolism gene	IARS2	MTR	0.8025259	3.56E-19
UVM	Cell metabolism gene	IARS2	TNPO1	0.802830179	3.37E-19
UVM	Cell metabolism gene	IARS2	EDEM3	0.803137835	3.19E-19
UVM	Cell metabolism gene	IARS2	SRP72	0.803669404	2.91E-19
UVM	Cell metabolism gene	IARS2	PHAX	0.803685725	2.90E-19
UVM	Cell metabolism gene	IARS2	METTL2B	0.809416032	1.03E-19
UVM	Cell metabolism gene	IARS2	NCOA2	0.809502026	1.01E-19
UVM	Cell metabolism gene	IARS2	CNOT8	0.809982754	9.24E-20
UVM	Cell metabolism gene	IARS2	PIP5K1A	0.810035508	9.15E-20
UVM	Cell metabolism gene	IARS2	HMGCR	0.814219163	4.18E-20
UVM	Cell metabolism gene	IARS2	XPO1	0.814491617	3.97E-20
UVM	Cell metabolism gene	IARS2	PAFAH1B1	0.818800445	1.73E-20
UVM	Cell metabolism gene	IARS2	PPAT	0.821887387	9.43E-21
UVM	Cell metabolism gene	IARS2	POLR2B	0.823378764	7.00E-21
UVM	Cell metabolism gene	IARS2	GPD2	0.823653797	6.63E-21
UVM	Cell metabolism gene	IARS2	MED17	0.825468501	4.59E-21
UVM	Cell metabolism gene	IARS2	GLUD2	0.827060864	3.32E-21
UVM	Cell metabolism gene	IARS2	NUP133	0.83613364	4.87E-22
UVM	Cell metabolism gene	IARS2	CLOCK	0.838382964	2.97E-22
UVM	Cell metabolism gene	IARS2	MED14	0.841444043	1.50E-22
UVM	Cell metabolism gene	IARS2	NUP155	0.84183534	1.37E-22
UVM	Cell metabolism gene	IARS2	EPRS	0.842279732	1.24E-22
UVM	Cell metabolism gene	IARS2	DLAT	0.845108669	6.48E-23
UVM	Cell metabolism gene	IARS2	PANK3	0.846878935	4.29E-23
UVM	Cell metabolism gene	IARS2	PIK3C3	0.849838911	2.12E-23
UVM	Cell metabolism gene	IARS2	SEC24B	0.850817426	1.68E-23
UVM	Cell metabolism gene	IARS2	BPNT1	0.851548249	1.41E-23
UVM	Cell metabolism gene	IARS2	HMGCS1	0.857827677	2.95E-24
UVM	CGC	IARS2	BIRC6	0.802236967	3.75E-19
UVM	CGC	IARS2	MAP2K4	0.802572774	3.53E-19
UVM	CGC	IARS2	MSH6	0.803112837	3.21E-19
UVM	CGC	IARS2	HNRNPA2B1	0.809000467	1.11E-19
UVM	CGC	IARS2	NCOA2	0.809502026	1.01E-19
UVM	CGC	IARS2	BARD1	0.809583129	9.94E-20
UVM	CGC	IARS2	NFE2L2	0.812794709	5.47E-20
UVM	CGC	IARS2	FBXO11	0.813635466	4.67E-20
UVM	CGC	IARS2	XPO1	0.814491617	3.97E-20
UVM	CGC	IARS2	MSH2	0.824767187	5.29E-21
UVM	CGC	IARS2	IL6ST	0.83539629	5.71E-22
UVM	CGC	IARS2	STRN	0.84159768	1.45E-22
UVM	CGC	IARS2	CUL3	0.841830919	1.37E-22
UVM	CGC	IARS2	CDC73	0.877573055	1.28E-26
UVM	Epifactor	IARS2	BRCC3	0.801046594	4.62E-19
UVM	Epifactor	IARS2	MSH6	0.803112837	3.21E-19
UVM	Epifactor	IARS2	MASTL	0.803578729	2.95E-19
UVM	Epifactor	IARS2	CUL2	0.804544816	2.48E-19
UVM	Epifactor	IARS2	CTCFL	0.805149533	2.23E-19
UVM	Epifactor	IARS2	FAM175B	0.807189151	1.54E-19
UVM	Epifactor	IARS2	SMEK2	0.807915205	1.35E-19
UVM	Epifactor	IARS2	NCOA2	0.809502026	1.01E-19
UVM	Epifactor	IARS2	BARD1	0.809583129	9.94E-20
UVM	Epifactor	IARS2	TAF1	0.809676852	9.77E-20
UVM	Epifactor	IARS2	EPC1	0.812183919	6.13E-20
UVM	Epifactor	IARS2	NSL1	0.818682592	1.77E-20
UVM	Epifactor	IARS2	YY1	0.820732589	1.19E-20
UVM	Epifactor	IARS2	TADA1	0.823442662	6.91E-21
UVM	Epifactor	IARS2	PARG	0.825943365	4.17E-21
UVM	Epifactor	IARS2	USP12	0.830453365	1.64E-21
UVM	Epifactor	IARS2	RBBP5	0.83257894	1.05E-21
UVM	Epifactor	IARS2	CLOCK	0.838382964	2.97E-22
UVM	Epifactor	IARS2	CUL3	0.841830919	1.37E-22
UVM	Epifactor	IARS2	ZRANB3	0.846350331	4.85E-23
UVM	Epifactor	IARS2	DDX21	0.849176277	2.49E-23
UVM	Epifactor	IARS2	ATF2	0.856276902	4.37E-24
UVM	Epifactor	IARS2	HAT1	0.857563776	3.16E-24
UVM	Epifactor	IARS2	CDC73	0.877573055	1.28E-26
UVM	Epifactor	IARS2	UCHL5	0.878396966	9.99E-27
UVM	IUPHAR	IARS2	HIPK3	0.800411615	5.16E-19
UVM	IUPHAR	IARS2	SRPK2	0.800593849	5.00E-19
UVM	IUPHAR	IARS2	SCYL2	0.800865234	4.77E-19
UVM	IUPHAR	IARS2	BIRC6	0.802236967	3.75E-19
UVM	IUPHAR	IARS2	MTR	0.8025259	3.56E-19
UVM	IUPHAR	IARS2	MAP2K4	0.802572774	3.53E-19
UVM	IUPHAR	IARS2	MASTL	0.803578729	2.95E-19
UVM	IUPHAR	IARS2	TAOK1	0.805124188	2.24E-19
UVM	IUPHAR	IARS2	MAGT1	0.806069624	1.89E-19
UVM	IUPHAR	IARS2	SLC35E3	0.808225245	1.28E-19
UVM	IUPHAR	IARS2	NPEPPS	0.808465538	1.22E-19
UVM	IUPHAR	IARS2	RPS6KC1	0.808842544	1.14E-19
UVM	IUPHAR	IARS2	NCOA2	0.809502026	1.01E-19
UVM	IUPHAR	IARS2	TAF1	0.809676852	9.77E-20
UVM	IUPHAR	IARS2	PIP5K1A	0.810035508	9.15E-20
UVM	IUPHAR	IARS2	SLC30A5	0.810408053	8.54E-20
UVM	IUPHAR	IARS2	NFE2L2	0.812794709	5.47E-20
UVM	IUPHAR	IARS2	FBXO11	0.813635466	4.67E-20
UVM	IUPHAR	IARS2	HMGCR	0.814219163	4.18E-20
UVM	IUPHAR	IARS2	XPO1	0.814491617	3.97E-20
UVM	IUPHAR	IARS2	ABCB10	0.820039751	1.36E-20
UVM	IUPHAR	IARS2	ADAM10	0.820622976	1.21E-20
UVM	IUPHAR	IARS2	PPAT	0.821887387	9.43E-21
UVM	IUPHAR	IARS2	SLC30A6	0.823547631	6.77E-21
UVM	IUPHAR	IARS2	PRMT3	0.826007951	4.11E-21
UVM	IUPHAR	IARS2	EGLN1	0.832188356	1.14E-21
UVM	IUPHAR	IARS2	VRK2	0.832554852	1.05E-21
UVM	IUPHAR	IARS2	IL6ST	0.83539629	5.71E-22
UVM	IUPHAR	IARS2	CLOCK	0.838382964	2.97E-22
UVM	IUPHAR	IARS2	USP14	0.839803415	2.17E-22
UVM	IUPHAR	IARS2	PIK3C3	0.849838911	2.12E-23
UVM	IUPHAR	IARS2	HAT1	0.857563776	3.16E-24
UVM	IUPHAR	IARS2	HMGCS1	0.857827677	2.95E-24
UVM	IUPHAR	IARS2	ADAM17	0.870034964	1.13E-25
UVM	IUPHAR	IARS2	IDE	0.872263354	6.04E-26
UVM	Kinase	IARS2	HIPK3	0.800411615	5.16E-19
UVM	Kinase	IARS2	SRPK2	0.800593849	5.00E-19
UVM	Kinase	IARS2	SCYL2	0.800865234	4.77E-19
UVM	Kinase	IARS2	MAP2K4	0.802572774	3.53E-19
UVM	Kinase	IARS2	MASTL	0.803578729	2.95E-19
UVM	Kinase	IARS2	TAOK1	0.805124188	2.24E-19
UVM	Kinase	IARS2	RPS6KC1	0.808842544	1.14E-19
UVM	Kinase	IARS2	TAF1	0.809676852	9.77E-20
UVM	Kinase	IARS2	VRK2	0.832554852	1.05E-21
UVM	Kinase	IARS2	SCYL3	0.838862138	2.67E-22
UVM	TF	IARS2	CEBPZ	0.801971336	3.93E-19
UVM	TF	IARS2	BACH1	0.802530586	3.56E-19
UVM	TF	IARS2	PRDM10	0.804067326	2.71E-19
UVM	TF	IARS2	CTCFL	0.805149533	2.23E-19
UVM	TF	IARS2	ZNF236	0.806646498	1.70E-19
UVM	TF	IARS2	NCOA2	0.809502026	1.01E-19
UVM	TF	IARS2	NFE2L2	0.812794709	5.47E-20
UVM	TF	IARS2	ELK3	0.812962893	5.30E-20
UVM	TF	IARS2	ZNF430	0.813296026	4.97E-20
UVM	TF	IARS2	ETV3	0.81344053	4.84E-20
UVM	TF	IARS2	ZNF45	0.81846261	1.85E-20
UVM	TF	IARS2	YY1	0.820732589	1.19E-20
UVM	TF	IARS2	SP3	0.821436059	1.03E-20
UVM	TF	IARS2	ZNF800	0.824411007	5.69E-21
UVM	TF	IARS2	AHCTF1	0.825621097	4.45E-21
UVM	TF	IARS2	PRMT3	0.826007951	4.11E-21
UVM	TF	IARS2	ELF1	0.836274929	4.72E-22
UVM	TF	IARS2	CLOCK	0.838382964	2.97E-22
UVM	TF	IARS2	ZNF791	0.839439442	2.35E-22
UVM	TF	IARS2	ADNP2	0.841118771	1.61E-22
UVM	TF	IARS2	ATF6	0.843914658	8.53E-23
UVM	TF	IARS2	ZNF678	0.847611876	3.61E-23
UVM	TF	IARS2	ATF2	0.856276902	4.37E-24
UVM	TF	IARS2	ZFP91	0.860123103	1.64E-24
UVM	TF	IARS2	ZNF281	0.866503382	3.01E-25
UVM	TSG	IARS2	MAP2K4	0.802572774	3.53E-19
UVM	TSG	IARS2	SMCHD1	0.80431663	2.59E-19
UVM	TSG	IARS2	CUL2	0.804544816	2.48E-19
UVM	TSG	IARS2	CTCFL	0.805149533	2.23E-19
UVM	TSG	IARS2	BARD1	0.809583129	9.94E-20
UVM	TSG	IARS2	PAFAH1B1	0.818800445	1.73E-20
UVM	TSG	IARS2	GGNBP2	0.819775895	1.43E-20
UVM	TSG	IARS2	MSH2	0.824767187	5.29E-21
UVM	TSG	IARS2	USP12	0.830453365	1.64E-21
UVM	TSG	IARS2	EGLN1	0.832188356	1.14E-21
UVM	TSG	IARS2	TP53BP2	0.848365302	3.02E-23
UVM	TSG	IARS2	CDC73	0.877573055	1.28E-26

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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	IARS2	YARS	-6.49411565641968	0.000280400272458792
KIRP	IARS2	EARS2	2.04485161641576	0.000364991836249828
BRCA	IARS2	QARS	-4.19270554058168	0.00045278023754438
KIRP	IARS2	PARS2	1.16452168188224	0.000471815001219511
LUSC	IARS2	LARS	-1.72121981954749	0.000480107205471704
HNSC	IARS2	YARS	1.29642872422682	0.000481783007217019
STAD	IARS2	AARS	-1.37044043826934	0.000657554250210524
STAD	IARS2	EPRS	-1.48171581324647	0.000789262883452143
THCA	IARS2	QARS	-1.4601543520666	0.00171161769998529
BLCA	IARS2	PARS2	-2.53947468245316	0.002838134765625
STAD	IARS2	CARS	-3.1134898215181	0.0194480954669416
PRAD	IARS2	PARS2	-1.46158282673459	0.0436765184075403
PRAD	IARS2	CARS2	1.13713373330258	0.0476188245531179
BRCA	IARS2	CARS	-3.12549590231492	1.01520616166893e-06
LUAD	IARS2	PARS2	-3.49187010929807	1.06715530949094e-10
LIHC	IARS2	LARS	-1.57612943170265	1.09871251804152e-08
LUAD	IARS2	LARS	-1.89171706205171	1.25525807323939e-06
THCA	IARS2	YARS	-1.52851760350795	1.38467683131598e-09
KIRC	IARS2	CARS	-2.26215465257439	1.77517968413055e-12
KIRP	IARS2	CARS	-1.01391921700556	2.26888805627823e-05
LIHC	IARS2	EPRS	-7.10731017811505	2.28054594243154e-08
KICH	IARS2	YARS	-2.00632816869948	2.98023223876953e-07
LUSC	IARS2	PARS2	-2.93653902690081	3.1117120779415e-08
LUSC	IARS2	EARS2	-4.79437223180067	3.23227619897643e-09
PRAD	IARS2	QARS	1.84374784424986	3.33417295851411e-06
BRCA	IARS2	YARS	-2.58863291399932	3.63754942015711e-21
LUAD	IARS2	EARS2	-4.660053370012	3.79251210274868e-11
BLCA	IARS2	EARS2	-4.74352280775662	3.814697265625e-06
STAD	IARS2	EARS2	-1.69983591205674	4.39747236669064e-05
LUAD	IARS2	AARS	-6.1139400689607	4.40386642176516e-08
LUAD	IARS2	CARS	-3.85793909283937	5.54313496971022e-09
PRAD	IARS2	EPRS	-1.76339127457265	9.52775218277559e-05
STAD	IARS2	NARS2	-1.47625969382721	9.99853946268559e-05

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

PPI interactors with IARS2

SIRT7, APP, MTHFD1, ILF2, MATR3, ILF3, CDH2, TUFM, JUP, PPT2, CALU, HSP90AA1, HSP90AB1, YWHAQ, HSFX1, TMEM25, HSPB1, GRSF1, HNRNPH1, HNRNPH2, HNRNPH3, HYAL4, NTRK1, KRAS, POC5, ECSIT, RNASEH2A, CHORDC1, UGGT1, PARD6B, KLC4, WDR62, Bub1b, Nek2, Papss1, Cul1, Iqgap3, FOXS1, RNF126, ASB8, EPHA4, DDX11, GAK, CELF5, STAT2, ESPL1, ASPM, MBNL1, TMEM70, MTO1, SMG8, NDUFS7, YBEY, DHX40, BBS1, FANCA, EPHA7, IFT122, MRPL21, ACSM5, SOCS6, AGR2, AIFM1, MRM1, SCO1, HSPD1, PDK1, TOMM20, COX14, SFXN1, MGST3, COX4I1, TRMT61B, PLGRKT, PTRH2, AURKAIP1, GBF1, HOOK3, AARS2, ALDH1B1, ALDH2, CAPNS1, DIABLO, FH, GRPEL1, PAFAH2, PFDN4, QPRT, RAD23A, UBA1, VBP1, YWHAE, YWHAG, YWHAH, IRF2, BCL2L14, NT5C3A, TNFRSF10A, GSK3B, BIRC3, TRIM28, PLEKHA4, PINK1, ORF8b, RAF1, SNRPA, ATRX, HTRA2, LACTB, OMA1, PARL, IMMP1L, IMMP2L, ERCC6, HSCB, LZTS2, UNK, RBM47, CHMP4C, KIF14, ACAD9, AUH, C12orf65, C17orf80, C1QBP, C21orf33, C6orf203, C8orf82, MCUR1, CCDC90B, CHCHD1, CLPB, COX15, CRYZ, CS, DHX30, FASTKD2, FASTKD3, FASTKD5, GFM1, GFM2, HINT2, ICT1, LONP1, LRPPRC, MCU, CCDC109B, MDH2, METTL15, METTL17, MRPL11, MRPS12, MRPS26, MRRF, MTERF3, MTFMT, MTG1, MTG2, MTIF2, MTIF3, MTRF1, MTRF1L, NGRN, OTC, PMPCA, PMPCB, RMND1, RPUSD3, RPUSD4, SLIRP, SSBP1, SURF1, TACO1, TBRG4, TEFM, TFAM, TRUB2, TSFM, VWA8, EXD2, CLPP, INS, Apc2, DNAJA2, DNAJA3, DNAJC15, DNAJC19, DNAJC28, DRG2, DNAJC30, DNAJC4, DNAJC7, HSPA9, UFL1, TP53, ACTR3, AKAP1, ARF6, ATG12, CLIP1, COX8A, DCTN2, DERL1, FLOT1, GFAP, GJA1, HSD17B11, LAMTOR1, MAPRE3, PANX1, PDHA1, PEX3, PHB2, PRPH, SQSTM1, TRAP1, ATG7, ATG10, NAA40, MALSU1, PFDN5, UQCRFS1, NAA38, DNA2, YARS2, SPRTN, nsp6, nsp9, ORF3a,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
IARS2	chr1	220267238	TA	T	Deletion	Benign	not_provided
IARS2	chr1	220267238	TAA	T	Deletion	Benign	not_provided
IARS2	chr1	220267238	TAAA	T	Deletion	Benign	not_provided
IARS2	chr1	220267247	AAAAAT	A	Deletion	Likely_benign	not_provided
IARS2	chr1	220267248	A	T	single_nucleotide_variant	Likely_benign	not_provided
IARS2	chr1	220267248	AAAAT	A	Deletion	Benign	not_provided
IARS2	chr1	220267249	AAAT	A	Deletion	Benign	not_provided
IARS2	chr1	220267250	A	T	single_nucleotide_variant	Benign	not_provided
IARS2	chr1	220267250	AAT	A	Microsatellite	Likely_benign	not_provided
IARS2	chr1	220267251	AT	A	Deletion	Benign	not_provided
IARS2	chr1	220267251	ATAT	A	Deletion	Benign	not_provided
IARS2	chr1	220267253	AT	A	Deletion	Benign	not_provided
IARS2	chr1	220267254	T	A	single_nucleotide_variant	Likely_benign	not_provided
IARS2	chr1	220267431	T	A	single_nucleotide_variant	Likely_benign	not_provided
IARS2	chr1	220267524	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
IARS2	chr1	220267581	G	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220267599	C	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220267613	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
IARS2	chr1	220267669	G	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220267695	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220267783	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220267786	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220267830	G	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220267833	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220267835	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220269438	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220269438	TA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220269439	A	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220269478	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220269575	A	G	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220269578	A	G	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220269800	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220273564	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220273719	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220273894	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220273933	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220274001	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275166	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275170	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275174	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275378	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275460	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275521	C	T	single_nucleotide_variant	Uncertain_significance	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220275556	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220275600	T	C	single_nucleotide_variant	Pathogenic	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220275613	T	A	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001587\|nonsense	SO:0001587\|nonsense
IARS2	chr1	220275630	A	AT	Duplication	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275694	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220275746	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220275754	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220275887	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220276035	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220276111	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220276304	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220276333	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220276350	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220276789	G	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220276828	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220276854	C	T	single_nucleotide_variant	Uncertain_significance	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220276858	T	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220276876	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220276881	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220276895	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220277095	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220278938	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220278970	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220279317	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220279330	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220279332	G	C	single_nucleotide_variant	Uncertain_significance	Developmental_cataract	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220279381	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220280189	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220280421	G	A	single_nucleotide_variant	Uncertain_significance	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220283930	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220284110	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220284112	G	GT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220284112	GT	G	Deletion	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220284142	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
IARS2	chr1	220284391	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220287350	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220287461	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220287680	A	C	single_nucleotide_variant	Uncertain_significance	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220287725	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220287730	A	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220287740	A	G	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220287914	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220288080	CA	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220288100	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220298627	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220298664	A	G	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220300035	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220300118	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220300157	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220300169	G	A	single_nucleotide_variant	Uncertain_significance	Leigh_syndrome\|Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
IARS2	chr1	220300212	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220307676	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220307849	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220307849	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220308110	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220308110	GT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220308139	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220309800	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220310130	AT	A	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220310347	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220311182	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220311283	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220311313	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220311332	G	A	single_nucleotide_variant	Likely_benign	Leigh_syndrome\|Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220311338	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220311386	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
IARS2	chr1	220312061	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220312303	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220312440	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220312456	A	G	single_nucleotide_variant	Pathogenic	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220312495	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220312633	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220313533	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220313715	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220313816	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220313853	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220314945	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220314976	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220315171	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220315180	G	A	single_nucleotide_variant	Pathogenic	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220316345	G	A	single_nucleotide_variant	Pathogenic	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220316371	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220316416	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220316427	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220316450	C	T	single_nucleotide_variant	Pathogenic	Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220316451	C	T	single_nucleotide_variant	Pathogenic	Cataract\|Peripheral_neuropathy\|Cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia\|growth_hormone_deficiency_with_short_stature\|partial_sensorineural_deafness	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220318522	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220318582	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220318764	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220318880	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220318903	T	C	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220319007	A	G	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220319109	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220319110	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220319156	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220319301	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220320541	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220320623	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220320820	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220320823	A	AT	Duplication	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
IARS2	chr1	220320887	G	GAAAGAAA	Duplication	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
IARS2	chr1	220320914	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
IARS2	chr1	220320957	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
IARS2	chr1	220321023	A	G	single_nucleotide_variant	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

Copy number variation (CNV) of IARS2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across IARS2
* 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
102708	N/A	AA523446	IARS2	chr1	220321381	+	LINC00276	chr2	13977818	-
94098	N/A	AA523339	IARS2	chr1	220321381	+	MED13	chr17	60125763	+
98634	N/A	CF122559	IARS2	chr1	220282199	-	RSPRY1	chr16	57233829	-

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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	IARS2	0.000641540897990344	0.018
LUSC	IARS2	0.00131337499408808	0.035
KIRP	IARS2	0.00186721104249618	0.049
TGCT	IARS2	0.00252794916595926	0.063
ACC	IARS2	0.0117316171619728	0.28
SARC	IARS2	0.0248459342590379	0.57
READ	IARS2	0.0436053783783048	0.96

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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
STAD	IARS2	0.0451497447593288	1
THCA	IARS2	0.00147150988160102	0.047
KICH	IARS2	0.00888803347798149	0.28
BRCA	IARS2	0.0434839757304705	1
SARC	IARS2	0.00137889888705146	0.046
HNSC	IARS2	0.010309861746445	0.31
READ	IARS2	0.0228558171380617	0.66

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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
C4014942	CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0023264	Leigh Disease	4	CLINGEN
C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	4	CLINGEN
C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	4	CLINGEN
C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	4	CLINGEN
C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	4	CLINGEN
C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	4	CLINGEN
C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	4	CLINGEN
C0010093	Corpus Luteum Cyst	1	CTD_human
C0029927	Ovarian Cysts	1	CTD_human