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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: HARS1 (NCBI Gene ID:3035)

Gene Summary

Gene Summary

Gene Information	Gene Name: HARS1
	Gene ID: 3035
	Gene Symbol	HARS1
	Gene ID	3035
	Gene Name	histidyl-tRNA synthetase 1
	Synonyms	CMT2W\|HARS\|HRS\|USH3B
	Cytomap	5q31.3
	Type of Gene	protein-coding
	Description	histidine--tRNA ligase, cytoplasmicHisRSJo-1 antigenhistidine translase
	Modification date	20200313
	UniProtAcc	P12081

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	HARS1	GO:0006427	histidyl-tRNA aminoacylation	29235198

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 'HARS1[title] AND translation [title] AND human.'

Gene	Title	PMID
HARS1	.	.

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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

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)

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

adj.pval

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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

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with HARS1 (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

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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	HARS1	KARS	-2.30407630249645	0.00019507110118866
KICH	HARS1	NARS	1.07442061729154	0.000249803066253662
STAD	HARS1	YARS	-6.49411565641968	0.000280400272458792
PRAD	HARS1	GCN1L1	-7.54173196078564	0.000376184722398862
HNSC	HARS1	YARS	1.29642872422682	0.000481783007217019
STAD	HARS1	AARS	-1.37044043826934	0.000657554250210524
STAD	HARS1	EPRS	-1.48171581324647	0.000789262883452143
LUAD	HARS1	NARS	-1.22666458579243	0.00134906742748461
KIRC	HARS1	GCN1L1	1.52944128066025	0.00150654978717842
HNSC	HARS1	HARS	-2.05994086045496	0.00315447678462988
CHOL	HARS1	MARS	-4.58890181072108	0.00390625
BLCA	HARS1	KARS	-1.18480170691913	0.0061798095703125
KIRP	HARS1	HARS	-3.70132649523515	0.00828406633809209
STAD	HARS1	TARS	-3.24156946700831	0.0105091729201376
HNSC	HARS1	GARS	1.31758956739856	0.0139046201916244
CHOL	HARS1	NARS	-7.86696864946951	0.0390625
LUAD	HARS1	HARS	-1.63766770445137	1.3051538867775e-06
THCA	HARS1	YARS	-1.52851760350795	1.38467683131598e-09
LIHC	HARS1	GCN1L1	-1.50546993282376	2.24402029682138e-06
LIHC	HARS1	EPRS	-7.10731017811505	2.28054594243154e-08
KIRC	HARS1	NARS	-2.40040204492647	2.49674919862186e-10
KIRC	HARS1	TARSL2	1.99791676458958	2.81176802000473e-08
KICH	HARS1	YARS	-2.00632816869948	2.98023223876953e-07
BRCA	HARS1	YARS	-2.58863291399932	3.63754942015711e-21
THCA	HARS1	TARSL2	-1.17266819633566	4.01359461804685e-10
LUAD	HARS1	AARS	-6.1139400689607	4.40386642176516e-08
BRCA	HARS1	MARS	-2.42525133735396	4.72741245870012e-27
KIRC	HARS1	TARS	-1.12274315049792	5.64962994208288e-07
LUAD	HARS1	GCN1L1	-3.11494072871482	5.86248556550202e-05
LIHC	HARS1	NARS	-3.55177423456569	7.34047974405276e-07
LIHC	HARS1	MARS	-3.13394077995853	7.36800472650994e-09
KIRP	HARS1	MARS	-1.35870938193596	7.40401446819306e-05
THCA	HARS1	GARS	-1.56246373012062	8.23769499323433e-10
PRAD	HARS1	EPRS	-1.76339127457265	9.52775218277559e-05

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

PPI interactors with HARS1

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
HARS1	chr5	140053561	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HARS1	chr5	140053598	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
HARS1	chr5	140053846	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140053853	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140053880	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140053888	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140053893	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140053903	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140053904	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001587\|nonsense	SO:0001587\|nonsense
HARS1	chr5	140053910	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140053911	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140053935	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140053956	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054253	A	G	single_nucleotide_variant	Uncertain_significance	Pes_cavus	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054257	C	T	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054276	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054277	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Retinal_dystrophy\|Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054277	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054280	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054283	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054289	A	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054302	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054312	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054315	C	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054320	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054323	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054324	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054328	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054329	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054329	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Urinary_urgency\|Microcephaly\|Intellectual_disability\|Cerebellar_ataxia\|Dysarthria\|Motor_delay\|Joint_laxity\|Pes_planus\|Hammertoe\|Distal_muscle_weakness\|Spastic_ataxia\|Scoliosis\|Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054350	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054353	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054361	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|Inborn_genetic_diseases\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054378	T	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054387	GTTC	G	Microsatellite	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HARS1	chr5	140054396	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054399	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054407	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054418	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054485	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054598	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054652	G	C	single_nucleotide_variant	Benign/Likely_benign	Usher_syndrome,_type_3B\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054655	GCTT	G	Microsatellite	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HARS1	chr5	140054657	TT	AG	Indel	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054664	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001587\|nonsense	SO:0001587\|nonsense
HARS1	chr5	140054685	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001587\|nonsense	SO:0001587\|nonsense
HARS1	chr5	140054692	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054693	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054696	G	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054699	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054700	G	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140054712	C	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054712	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054713	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054717	G	A	single_nucleotide_variant	Benign/Likely_benign	Usher_syndrome,_type_3B\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140054968	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054993	C	CT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140054993	CT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140055015	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056146	GC	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056219	A	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056235	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056256	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056257	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056271	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056273	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056274	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056277	C	T	single_nucleotide_variant	Uncertain_significance	Retinal_dystrophy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056282	A	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056300	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056306	T	C	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056309	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056310	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|Charcot-Marie-Tooth_disease,_axonal,_type_2w\|Usher_Syndrome,_Type_III	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056322	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056323	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056343	C	A	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056347	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056349	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056364	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056366	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056379	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056380	G	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056381	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056386	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056388	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056402	G	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056405	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056424	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001587\|nonsense	SO:0001587\|nonsense
HARS1	chr5	140056424	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056433	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056444	T	C	single_nucleotide_variant	Uncertain_significance	Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056452	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056456	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056457	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HARS1	chr5	140056457	G	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056470	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056473	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056477	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056484	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056485	T	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056504	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056555	C	T	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056556	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056566	T	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056584	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056601	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056602	TACTCAAAGAGCA	T	Deletion	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HARS1	chr5	140056612	G	GCAA	Duplication	Pathogenic	Urinary_urgency\|Microcephaly\|Intellectual_disability\|Cerebellar_ataxia\|Dysarthria\|Motor_delay\|Joint_laxity\|Pes_planus\|Hammertoe\|Distal_muscle_weakness\|Spastic_ataxia\|Scoliosis	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HARS1	chr5	140056622	G	A	single_nucleotide_variant	Benign/Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056628	C	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056640	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056643	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056645	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056673	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056696	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056699	C	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056714	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056775	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056874	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056879	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056906	C	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140056924	C	G	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056924	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056938	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056938	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056940	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056946	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140056951	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056953	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056983	T	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056990	C	A	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140056992	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057004	AC	A	Deletion	Pathogenic	Oculomotor_apraxia\|Nystagmus\|Intellectual_disability\|Dysarthria\|Choreoathetosis\|Cerebellar_atrophy\|Tremor\|Dysmetria\|Spastic_ataxia\|Peripheral_neuropathy
HARS1	chr5	140057015	C	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057022	C	T	single_nucleotide_variant	Benign/Likely_benign	Usher_syndrome,_type_3B\|none_provided\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057027	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057216	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057237	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057241	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057243	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057246	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057256	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057274	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057275	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057279	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057280	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057290	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057292	A	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057295	CCA	C	Microsatellite	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HARS1	chr5	140057300	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057314	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057316	T	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057319	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057330	A	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057332	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057386	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057481	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057485	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057488	CTGACCT	C	Deletion	Uncertain_significance	Usher_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
HARS1	chr5	140057501	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057507	C	A	single_nucleotide_variant	Pathogenic	Oculomotor_apraxia\|Nystagmus\|Intellectual_disability\|Dysarthria\|Choreoathetosis\|Cerebellar_atrophy\|Tremor\|Dysmetria\|Spastic_ataxia\|Peripheral_neuropathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057508	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057509	C	T	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057511	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057521	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001587\|nonsense	SO:0001587\|nonsense
HARS1	chr5	140057534	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057535	G	A	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057542	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057561	C	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057562	A	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140057578	A	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057591	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057596	A	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057598	A	C	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140057623	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140057838	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140058494	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140058579	A	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140058590	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140058608	T	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140058615	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058632	A	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140058636	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058644	T	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140058645	A	C	single_nucleotide_variant	Pathogenic	Usher_syndrome,_type_3B\|Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001575\|splice_donor_variant,SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058652	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058664	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058678	A	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058699	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|Charcot-Marie-Tooth_disease,_axonal,_type_2w\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058700	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058702	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058708	G	T	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058712	C	A	single_nucleotide_variant	Likely_pathogenic	Charcot-Marie-Tooth_disease,_axonal,_type_2w	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140058720	CAA	C	Deletion	Uncertain_significance	Retinitis_pigmentosa-deafness_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140058893	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140059374	G	A	single_nucleotide_variant	Pathogenic	Charcot-Marie-Tooth_disease,_axonal,_type_2w\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059379	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140059386	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059387	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059405	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059405	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059406	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140059414	C	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059420	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140059508	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140059738	GT	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140062389	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140062547	C	T	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140062596	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140062689	A	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062698	AC	TA	Indel	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
HARS1	chr5	140062728	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062741	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062750	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062751	G	A	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140062765	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_specified	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062767	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062782	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062783	G	A	single_nucleotide_variant	Uncertain_significance	Spastic_ataxia\|Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062785	G	A	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062786	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062797	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140062819	C	G	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140063091	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070432	G	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070443	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070446	G	A	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070446	G	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070446	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070455	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070461	T	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070465	T	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140070478	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140070488	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HARS1	chr5	140070505	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140070516	ACCT	A	Microsatellite	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HARS1	chr5	140070517	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140070520	C	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HARS1	chr5	140070536	A	G	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070545	AG	A	Deletion	Benign	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070719	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070796	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070796	T	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070797	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HARS1	chr5	140070799	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|Charcot-Marie-Tooth_disease,_axonal,_type_2w\|not_provided	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
HARS1	chr5	140070801	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070802	G	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070818	C	T	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140070828	A	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070829	G	A	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070838	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B\|not_specified	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070847	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070850	G	T	single_nucleotide_variant	Benign	Usher_syndrome,_type_3B\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070851	A	C	single_nucleotide_variant	Likely_benign	Usher_syndrome,_type_3B	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
HARS1	chr5	140070873	G	C	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070876	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Usher_syndrome,_type_3B\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HARS1	chr5	140070886	C	T	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001575\|splice_donor_variant,SO:0001583\|missense_variant	SO:0001575\|splice_donor_variant,SO:0001583\|missense_variant
HARS1	chr5	140070888	A	G	single_nucleotide_variant	Uncertain_significance	Usher_syndrome,_type_3B	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
HARS1	chr5	140070953	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_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 HARS1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across HARS1
* 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

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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

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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

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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
P12081	DB00117	Histidine		Small molecule	Investigational\|Nutraceutical
P12081	DB00117	Histidine

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C4225265	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C3281066	USHER SYNDROME, TYPE IIIB	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
C0007134	Renal Cell Carcinoma	1	CTD_human
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CTD_human
C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
C1568248	Usher Syndrome, Type III	1	ORPHANET