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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: EARS2 (NCBI Gene ID:124454)

Gene Summary

Gene Summary

Gene Information	Gene Name: EARS2
	Gene ID: 124454
	Gene Symbol	EARS2
	Gene ID	124454
	Gene Name	glutamyl-tRNA synthetase 2, mitochondrial
	Synonyms	COXPD12\|MSE1\|gluRS\|mtGlnRS
	Cytomap	16p12.2
	Type of Gene	protein-coding
	Description	probable glutamate--tRNA ligase, mitochondrialglutamate tRNA ligase 2, mitochondrialglutamate--tRNA ligaseprobable glutamyl-tRNA synthetase, mitochondrial
	Modification date	20200313
	UniProtAcc	Q5JPH6

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	EARS2	GO:0006424	glutamyl-tRNA aminoacylation	19805282
Hgene	EARS2	GO:0070127	tRNA aminoacylation for mitochondrial protein translation	19805282

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

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Translation Studies in PubMed

We searched PubMed using 'EARS2[title] AND translation [title] AND human.'

Gene	Title	PMID
EARS2	.	.

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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
ENST00000449606	23536564	23536700	Frame-shift
ENST00000563459	23536564	23536700	Frame-shift
ENST00000563459	23563469	23563625	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)
ENST00000563459	23563469	23563625	3857	147	302	523	46	98

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.
Q5JPH6	46	98	42	523	Chain	ID=PRO_0000254560;Note=Probable glutamate--tRNA ligase%2C mitochondrial
Q5JPH6	46	98	45	53	Motif	Note="HIGH" region
Q5JPH6	46	98	50	50	Binding site	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q5JPH6	46	98	76	76	Binding site	Note=Glutamate;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q5JPH6	46	98	55	55	Natural variant	ID=VAR_069235;Note=In COXPD12. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22492562;Dbxref=dbSNP:rs770862902,PMID:22492562
Q5JPH6	46	98	65	65	Natural variant	ID=VAR_069236;Note=In COXPD12. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23008233;Dbxref=dbSNP:rs397514595,PMID:23008233
Q5JPH6	46	98	96	96	Natural variant	ID=VAR_069237;Note=In COXPD12. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22492562;Dbxref=dbSNP:rs397514593,PMID:22492562

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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
KIRP	EARS2	2.04485161641576	0.000364991836249828
LUSC	EARS2	-4.79437223180067	3.23227619897643e-09
LUAD	EARS2	-4.660053370012	3.79251210274868e-11
BLCA	EARS2	-4.74352280775662	3.814697265625e-06
STAD	EARS2	-1.69983591205674	4.39747236669064e-05

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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
LGG	EARS2	2	1	0.0409157531262476	0.2091464	0.143890703296703	-5.65374036467667	-5.08083758811989

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 EARS2 (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
KICH	Cell metabolism gene	EARS2	LPCAT3	0.803505747	9.33E-22
KICH	Cell metabolism gene	EARS2	COQ2	0.805527823	6.17E-22
KICH	Cell metabolism gene	EARS2	OGDH	0.805645222	6.03E-22
KICH	Cell metabolism gene	EARS2	PHKA1	0.827604075	4.84E-24
KICH	Cell metabolism gene	EARS2	ST3GAL1	0.854905474	4.23E-27
KICH	Cell metabolism gene	EARS2	AHCYL2	0.895235895	5.35E-33
KICH	CGC	EARS2	CUX1	0.809082239	2.95E-22
KICH	CGC	EARS2	CLIP1	0.817753504	4.57E-23
KICH	Epifactor	EARS2	PRDM4	0.800859528	1.59E-21
KICH	Epifactor	EARS2	USP7	0.807215624	4.36E-22
KICH	IUPHAR	EARS2	ABHD2	0.800958019	1.56E-21
KICH	IUPHAR	EARS2	HCN2	0.804494648	7.63E-22
KICH	IUPHAR	EARS2	KLK3	0.808732195	3.18E-22
KICH	IUPHAR	EARS2	ADIPOR2	0.811707241	1.70E-22
KICH	IUPHAR	EARS2	CFTR	0.81908818	3.40E-23
KICH	IUPHAR	EARS2	ATP6V0C	0.825374977	8.15E-24
KICH	TF	EARS2	PRDM4	0.800859528	1.59E-21
KICH	TF	EARS2	CUX1	0.809082239	2.95E-22
KICH	TSG	EARS2	PRDM4	0.800859528	1.59E-21
KICH	TSG	EARS2	CUX1	0.809082239	2.95E-22
KICH	TSG	EARS2	CFTR	0.81908818	3.40E-23
KICH	TSG	EARS2	ST7	0.852577709	8.14E-27
LAML	Cell metabolism gene	EARS2	POLR1A	0.8212861	1.55E-43

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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	EARS2	LARS2	-3.14243034518345	0.00019507110118866
STAD	EARS2	YARS	-6.49411565641968	0.000280400272458792
KIRP	EARS2	PARS2	1.16452168188224	0.000471815001219511
HNSC	EARS2	YARS	1.29642872422682	0.000481783007217019
THCA	EARS2	LARS2	1.46480152873302	0.000495104848866816
LUSC	EARS2	RARS2	1.87851633718952	0.00105278618568408
BLCA	EARS2	PARS2	-2.53947468245316	0.002838134765625
CHOL	EARS2	MARS	-4.58890181072108	0.00390625
KIRP	EARS2	RARS2	-1.62015129839089	0.00733334058895707
READ	EARS2	MARS2	2.0700272473485	0.03125
STAD	EARS2	IARS2	-1.36774073274524	0.0324882394634187
HNSC	EARS2	MARS2	-1.77362037787884	0.0352341516679644
PRAD	EARS2	PARS2	-1.46158282673459	0.0436765184075403
LUAD	EARS2	PARS2	-3.49187010929807	1.06715530949094e-10
BRCA	EARS2	LARS2	-5.48583270161281	1.12177735729832e-06
PRAD	EARS2	DARS2	-1.56775852251162	1.35699423901536e-06
THCA	EARS2	YARS	-1.52851760350795	1.38467683131598e-09
BRCA	EARS2	IARS2	1.50870900515201	2.53632294696759e-14
LUAD	EARS2	LARS2	-1.17851720308655	2.81164525558733e-06
KICH	EARS2	YARS	-2.00632816869948	2.98023223876953e-07
LUSC	EARS2	PARS2	-2.93653902690081	3.1117120779415e-08
BRCA	EARS2	YARS	-2.58863291399932	3.63754942015711e-21
LUAD	EARS2	MARS2	-5.70960188117261	3.8171822568541e-09
PRAD	EARS2	MARS2	-2.3666294537261	4.0201920030313e-07
KICH	EARS2	LARS2	1.44112931619469	4.17232513427734e-06
BRCA	EARS2	MARS	-2.42525133735396	4.72741245870012e-27
LIHC	EARS2	MARS	-3.13394077995853	7.36800472650994e-09
KIRP	EARS2	MARS	-1.35870938193596	7.40401446819306e-05
STAD	EARS2	NARS2	-1.47625969382721	9.99853946268559e-05

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

PPI interactors with EARS2

BSG, NTRK1, MAS1, EGLN3, HIF1A, LMBR1L, PLEKHA4, nsp4, ORF14, ORF7a, ORF7b, S, IMMP2L, HTRA2, IMMP1L, HSCB, GRSF1, BRD1, TAF1, ACAD9, AUH, C12orf65, C1QBP, C21orf33, C6orf203, CS, GFM1, LRPPRC, MDH2, METTL17, MRPL11, MRRF, MTRF1L, SSBP1, TACO1, TBRG4, TFAM, TRUB2, TSFM, TUFM, EXD2, BCAR1, CLPP, OGT, AARS2, AIFM1, COX4I1, COX8A, PDHA1, TRAP1, SMAD4, P2RY10, CTAG1A, NPTN, HCST, NAAA, UQCRFS1, PRSS50, AK4, TNFSF8, MYL10, SLC25A10, MFSD4, GPR45, AMACR, TNFSF14, FAHD1, TRIM43, ACSM5, NIPSNAP3A, FPR1, GPR182, GPR55, SLC2A1, YARS2, VIPR1, TAZ, GML, SPRTN, SQSTM1,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
EARS2	chr16	23533383	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533398	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533499	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533536	A	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533587	G	C	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533788	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533789	G	GT	Duplication	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533790	T	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533883	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533884	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23533972	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534045	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534098	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534194	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534249	G	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534257	G	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534284	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534304	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534330	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534365	T	C	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534459	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534554	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534593	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534610	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534643	CT	C	Deletion	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534665	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534726	C	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534756	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534775	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534778	A	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534868	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534937	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534977	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23534979	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535055	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535137	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535156	C	CT	Duplication	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535156	CT	C	Deletion	Benign	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535234	G	A	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535292	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535305	ATC	A	Microsatellite	Likely_benign	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535307	CTCTGT	C	Deletion	Benign	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535512	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535537	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535601	G	A	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535677	C	G	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535680	A	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
EARS2	chr16	23535717	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23535731	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23535773	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23535789	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23535822	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23535967	C	CT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23536070	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23536255	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23536366	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001624\|3_prime_UTR_variant,SO:0001627\|intron_variant
EARS2	chr16	23536531	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
EARS2	chr16	23536550	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
EARS2	chr16	23536572	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23536641	T	G	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23536644	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23536659	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23536684	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23536869	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23540560	AG	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23540798	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23540823	C	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23540824	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23540837	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23540858	C	T	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23540891	AG	A	Deletion	Pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23540895	C	CGAG	Duplication	Likely_pathogenic	Arthrogryposis_multiplex_congenita\|Fetal_akinesia_sequence	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion
EARS2	chr16	23540932	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23540941	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23541071	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23541077	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23541080	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23541092	G	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23541093	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23541205	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23541215	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23541222	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23541223	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23541273	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23544000	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23544012	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23544051	T	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23544061	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23544101	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23544295	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23545978	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23546205	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23546218	C	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546218	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546254	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546255	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546256	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546289	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546293	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546294	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546306	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546316	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546353	C	T	single_nucleotide_variant	Likely_pathogenic	Arthrogryposis_multiplex_congenita\|Fetal_akinesia_sequence\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546354	G	A	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546358	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546377	G	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546422	C	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546462	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546467	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546468	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546480	G	C	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546483	G	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546497	C	T	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546500	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546525	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546534	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546557	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546561	G	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546587	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546597	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546598	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546609	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23546665	T	C	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546667	C	T	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546670	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23546679	T	C	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23555726	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23555835	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23555840	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23555917	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23555918	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23555969	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23555986	C	G	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23555992	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_12\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23555998	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	High_palate\|Abnormality_of_the_pinna\|Global_developmental_delay\|Seizures\|Motor_delay\|Generalized_tonic-clonic_seizures\|Abnormal_facial_shape\|Prominent_forehead\|Limb_tremor\|Combined_oxidative_phosphorylation_deficiency_12\|Inborn_genetic_diseases\|not_provid	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23556000	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23556001	G	A	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23556028	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23556065	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23563184	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23563189	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23563472	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563479	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563485	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563501	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23563501	CG	TT	Indel	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563502	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563502	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563519	G	A	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23563552	GA	G	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563556	C	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563561	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23563568	T	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563572	T	C	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563601	C	T	single_nucleotide_variant	not_provided	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23563796	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23568199	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EARS2	chr16	23568563	C	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23568565	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23568566	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23568602	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23568620	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23568622	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23568649	T	C	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_12\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
EARS2	chr16	23568650	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
EARS2	chr16	23568673	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EARS2	chr16	23568678	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EARS2	chr16	23568683	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_12	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EARS2	chr16	23568698	G	C	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_12
EARS2	chr16	23568780	T	G	single_nucleotide_variant	Likely_benign	not_provided

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
EARS2	BRCA	chr16	23546599	23546599	G	A	Missense_Mutation	p.R190C	6
EARS2	KIRP	chr16	23540828	23540828	C	T	Silent	p.V449V	4
EARS2	BRCA	chr16	23563498	23563498	C	G	Missense_Mutation	p.E89D	3
EARS2	PAAD	chr16	23555946	23555946	G	A	Missense_Mutation	p.A125V	3
EARS2	ACC	chr16	23555852	23555852	C	T	Silent	p.R156R	3
EARS2	ACC	chr16	23555917	23555917	C	T	Missense_Mutation	p.G135R	3
EARS2	TGCT	chr16	23536531	23536531	C	T	Missense_Mutation		3
EARS2	PRAD	chr16	23555840	23555840	C	G	Silent	p.T160T	3
EARS2	ESCA	chr16	23555876	23555876	C	A	Missense_Mutation	p.E148D	3
EARS2	BRCA	chr16	23535677	23535677	C	T	RNA	NULL	3
EARS2	BRCA	chr16	23546520	23546520	T	C	Missense_Mutation	p.D216G	3
EARS2	HNSC	chr16	23563530	23563530	C	G	Missense_Mutation	p.D79H	3
EARS2	SKCM	chr16	23546328	23546328	C	T	Missense_Mutation	p.R280K	2
EARS2	UCEC	chr16	23546671	23546671	G	A	Missense_Mutation	p.R166W	2
EARS2	SKCM	chr16	23563520	23563520	C	T	Missense_Mutation	p.R82H	2
EARS2	TGCT	chr16	23540942	23540942	G	A	Silent		2
EARS2	UCEC	chr16	23555992	23555992	C	T	Missense_Mutation	p.G110S	2
EARS2	SKCM	chr16	23540859	23540859	G	A	Missense_Mutation	p.S439L	2
EARS2	KICH	chr16	23546345	23546345	C	A	Silent	p.L274L	2
EARS2	LUAD	chr16	23540900	23540900	C	A	Missense_Mutation	p.W425C	2
EARS2	SKCM	chr16	23546250	23546250	G	A	Missense_Mutation	p.S306F	2
EARS2	BLCA	chr16	23543988	23543988	C	T	Missense_Mutation	p.E353K	2
EARS2	HNSC	chr16	23541092	23541092	G	A	Silent	p.Y398Y	2
EARS2	STAD	chr16	23540844	23540844	A	G	Missense_Mutation	p.V444A	2
EARS2	UCEC	chr16	23535308	23535312	TCTGT	-	RNA	NULL	2
EARS2	ESCA	chr16	23555876	23555876	C	A	Missense_Mutation		2
EARS2	SARC	chr16	23540873	23540873	C	A	Missense_Mutation		2
EARS2	STAD	chr16	23563615	23563615	G	A	Silent	p.H50H	2
EARS2	UCEC	chr16	23535678	23535678	G	A	RNA	NULL	2
EARS2	STAD	chr16	23541078	23541078	A	G	Missense_Mutation	p.L403P	2
EARS2	UCEC	chr16	23535717	23535717	C	T	Missense_Mutation	p.R516Q	2
EARS2	SARC	chr16	23540873	23540873	C	A	Missense_Mutation	p.Q434H	2
EARS2	STAD	chr16	23546255	23546255	G	A	Silent	p.P304P	2
EARS2	UCEC	chr16	23536588	23536588	G	A	Missense_Mutation	p.R489W	2
EARS2	UCEC	chr16	23546501	23546501	G	A	Silent	p.S222	2
EARS2	HNSC	chr16	23536684	23536684	T	C	Missense_Mutation		1
EARS2	LUSC	chr16	23535723	23535723	C	T	Missense_Mutation	p.R514Q	1
EARS2	HNSC	chr16	23536527	23536527	G	A	Missense_Mutation	p.P509L	1
EARS2	STAD	chr16	23544081	23544081	G	T	Missense_Mutation	p.Q322K	1
EARS2	LIHC	chr16	23541164	23541164	C	-	Frame_Shift_Del	p.G374fs	1
EARS2	HNSC	chr16	23541198	23541198	A	C	Missense_Mutation		1
EARS2	KICH	chr16	23546345	23546345	C	A	Silent		1
EARS2	CESC	chr16	23568536	23568536	G	A	Missense_Mutation		1
EARS2	LIHC	chr16	23536525	23536525	G	-	Frame_Shift_Del	p.L510fs	1
EARS2	HNSC	chr16	23563530	23563530	C	G	Missense_Mutation		1
EARS2	PAAD	chr16	23555946	23555946	G	A	Missense_Mutation		1
EARS2	COAD	chr16	23540905	23540905	G	T	Missense_Mutation	p.L424M	1
EARS2	HNSC	chr16	23546581	23546581	G	A	Missense_Mutation		1
EARS2	ACC	chr16	23546407	23546407	T	G	Missense_Mutation	p.T254P	1
EARS2	TGCT	chr16	23540942	23540942	G	A	Silent	p.C411C	1
EARS2	COAD	chr16	23544061	23544061	C	T	Silent	p.P328P	1
EARS2	LUAD	chr16	23540889	23540889	G	A	Missense_Mutation	p.A429V	1
EARS2	HNSC	chr16	23536649	23536649	T	A	Missense_Mutation		1
EARS2	PRAD	chr16	23546217	23546217	C	A	Missense_Mutation	p.G317V	1
EARS2	SKCM	chr16	23543983	23543983	G	A	Silent	p.F354F	1
EARS2	BLCA	chr16	23543988	23543988	C	T	Missense_Mutation		1
EARS2	KIRP	chr16	23540828	23540828	C	T	Silent		1
EARS2	THYM	chr16	23544014	23544014	G	T	Missense_Mutation		1
EARS2	COAD	chr16	23555930	23555930	C	T	Silent	p.A130A	1
EARS2	LUAD	chr16	23541066	23541066	T	A	Splice_Site	p.Q407_splice	1
EARS2	HNSC	chr16	23536611	23536611	T	C	Missense_Mutation		1
EARS2	PRAD	chr16	23544062	23544062	G	A	Missense_Mutation	p.P328L	1
EARS2	SKCM	chr16	23535766	23535766	G	A	Missense_Mutation	p.P500S	1
EARS2	KIRP	chr16	23546255	23546255	G	T	Silent		1
EARS2	THYM	chr16	23544014	23544014	G	T	Missense_Mutation	p.A344D	1
EARS2	LUAD	chr16	23555867	23555867	C	T	Silent	p.K151K	1
EARS2	READ	chr16	23540896	23540896	G	A	Missense_Mutation	p.R427C	1
EARS2	BLCA	chr16	23536474	23536474	C	A	Nonsense_Mutation	p.E527*	1
EARS2	LGG	chr16	23556017	23556017	C	T	Silent	p.P101P	1
EARS2	LUAD	chr16	23555995	23555995	C	A	Missense_Mutation	p.G109C	1
EARS2	HNSC	chr16	23546581	23546581	G	A	Missense_Mutation	p.P196S	1
EARS2	BLCA	chr16	23568552	23568552	C	G	Missense_Mutation	p.R38P	1
EARS2	LGG	chr16	23546566	23546566	G	T	Missense_Mutation	p.L201M	1
EARS2	ESCA	chr16	23546501	23546501	G	A	Silent	p.S222S	1
EARS2	LUAD	chr16	23546229	23546229	T	C	Missense_Mutation	p.N313S	1
EARS2	HNSC	chr16	23536649	23536649	T	A	Missense_Mutation	p.E468D	1
EARS2	SARC	chr16	23535743	23535743	G	T	Silent		1
EARS2	LGG	chr16	23556017	23556017	C	T	Silent		1
EARS2	HNSC	chr16	23536527	23536527	G	A	Missense_Mutation		1
EARS2	LUSC	chr16	23546569	23546569	C	T	Missense_Mutation	p.D200N	1
EARS2	HNSC	chr16	23536611	23536611	T	C	Missense_Mutation	p.Y481C	1
EARS2	LIHC	chr16	23540823	23540823	C	T	Missense_Mutation		1
EARS2	HNSC	chr16	23541092	23541092	G	A	Silent		1
EARS2	LUSC	chr16	23535757	23535757	C	G	Missense_Mutation	p.E503Q	1
EARS2	STAD	chr16	23546498	23546498	G	A	Silent	p.D223D	1
EARS2	LIHC	chr16	23563501	23563501	C	T	Silent		1

Copy number variation (CNV) of EARS2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across EARS2
* 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
83255	UCEC	TCGA-BK-A139-01A	EARS2	chr16	23563470	-	COG7	chr16	23430148	-
97327	N/A	CF135076	EARS2	chr16	23533323	-	GGA2	chr16	23533321	-
86521	N/A	EC543684	EARS2	chr16	23566762	-	SRPRB	chr3	133539440	+
95887	N/A	AA533046	EARS2	chr16	23548012	+	TSC22D1	chr13	45007658	+
97902	LUAD	TCGA-83-5908	EARS2	chr16	23555834	-	VMP1	chr17	57915655	+
97902	LUAD	TCGA-83-5908-01A	EARS2	chr16	23555835	-	VMP1	chr17	57915656	+
36889	STAD	TCGA-CG-4305-01A	ERN2	chr16	23713711	-	EARS2	chr16	23556024	-
36893	N/A	AW605160	HMGB2	chr4	174253196	-	EARS2	chr16	23535431	+

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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
KIRC	EARS2	0.00411731380905923	0.11
LIHC	EARS2	0.00427897859704668	0.11
KIRP	EARS2	0.0264109527826865	0.66
LUSC	EARS2	0.027670146905237	0.66
TGCT	EARS2	5.52277688872935e-05	0.0015

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Translation factor and Age

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

Cancer type	Translation factor	pval	adj.p
LIHC	EARS2	0.0268314589495348	0.8
THCA	EARS2	0.00678622365664463	0.22
GBM	EARS2	0.0389850856462331	1
LGG	EARS2	0.041974494954812	1
LAML	EARS2	0.0189938026945956	0.59
BRCA	EARS2	0.0014286862629075	0.047
THYM	EARS2	0.0281313233471276	0.82
READ	EARS2	0.035137169683879	0.98

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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
Q5JPH6	DB00142	Glutamic acid		Small molecule	Approved\|Nutraceutical
Q5JPH6	DB00142	Glutamic acid

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C3554079	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0014544	Epilepsy	1	GENOMICS_ENGLAND