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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term YARS:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000134684	YARS	0	0	12	ENSG00000134684	ENST00000469100		tyrosyl-tRNA synthetase [Source:HGNC Symbol;Acc:12840]	1	33240840	33283754	-1	p35.1	33240840	33247704	YARS	YARS-003	HGNC Symbol	HGNC transcript name	9	46.35	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	8565	12840	YARS		27511

MSeqDR Master Exome Data Set M1: 146 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	1	33240901	A	C	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	rs78319035	0.0113	-	-	-	-	-	het	2
2	1	33240901	A	C	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.2184T>G	p.H728Q	non-syn	rs78319035	0.0113	-	-	-	-	-	het	2
3	1	33240901	A	C	ENST00000490826	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.2122T>G	p.*708E	non-syn	rs78319035	0.0113	-	-	-	-	-	het	2
4	1	33241043	T	C	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
5	1	33241043	T	C	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
6	1	33241043	T	C	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.2042A>G	p.Q681R	non-syn	NA	-	-	-	-	-	-	het	3
7	1	33241043	T	C	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.2042A>G	p.Q681R	non-syn	NA	-	-	-	-	-	-	hom	2
8	1	33241043	T	C	ENST00000490826	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1980A>G	p.P660P	syn	NA	-	-	-	-	-	-	het	3
9	1	33241043	T	C	ENST00000490826	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1980A>G	p.P660P	syn	NA	-	-	-	-	-	-	hom	2
10	1	33241130	C	-CCTTT	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	rs142185532	-	-	lod=138:496	-	-	-	hom	1
11	1	33241130	C	-CCTTT	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	rs142185532	-	-	lod=138:496	-	-	-	het	19
12	1	33241130	C	-CCTTT	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1950_1954del	p.G652NA	non-syn	rs142185532	-	-	lod=138:496	-	-	-	hom	1
13	1	33241130	C	-CCTTT	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1950_1954del	p.G652NA	non-syn	rs142185532	-	-	lod=138:496	-	-	-	het	19
14	1	33241130	C	-CCTTT	ENST00000490826	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1888_1892del	p.G631NA	non-syn	rs142185532	-	-	lod=138:496	-	-	-	hom	1
15	1	33241130	C	-CCTTT	ENST00000490826	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1888_1892del	p.G631NA	non-syn	rs142185532	-	-	lod=138:496	-	-	-	het	19
16	1	33241143	A	G	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	rs184249741	0.00464	-	lod=138:496	-	-	-	het	3
17	1	33241143	A	G	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1942T>C	p.*648R	non-syn	rs184249741	0.00464	-	lod=138:496	-	-	-	het	3
18	1	33241143	A	G	ENST00000490826	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1880T>C	p.L627S	non-syn	rs184249741	0.00464	-	lod=138:496	-	-	-	het	3
19	1	33241196	C	A	ENST00000373477	ENSG00000134684	33240840	33283754	ENSP00000362576	YARS	-1	SYYC_HUMAN	-	-	3'_UTR	rs144131403	0.011	-	-	-	-	-	het	2
20	1	33241196	C	A	ENST00000469100	ENSG00000134684	33240840	33283754	-	YARS	-1	-	c.1889G>T	p.W630L	non-syn	rs144131403	0.011	-	-	-	-	-	het	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding YARS 1:33240840..33283754 region Gbrowse