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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 ENSG00000145982:

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
ENSG00000145982	FARS2	1	368	24	ENSG00000145982	ENST00000324331	ENSP00000316335	phenylalanyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:21062]	6	5261277	5771813	1	p25.1	5261277	5771662	FARS2	FARS2-003	HGNC Symbol	HGNC transcript name	4	41.44	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	10667	21062	FARS2		27515

MSeqDR Master Exome Data Set M1: 55 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	6	5261292	G	A	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	-	-	5'_UTR	rs13191012	0.5085	-	-	-	-	-	het	41
2	6	5261292	G	A	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	-	-	5'_UTR	rs13191012	0.5085	-	-	-	-	-	hom	10
3	6	5261334	C	G	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	-	-	5'_UTR	rs150784522	0.026	-	-	-	-	-	het	1
4	6	5261359	A	G	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	-	-	5'_UTR	rs9784870	0.5789	-	-	-	-	-	het	1
5	6	5368905	G	A	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.102G>A	p.S34S	syn	rs113155624	0.0208	A=3/G=8597;A=125/G=4281;A=128/G=12878	-	-	-	-	het	6
6	6	5368905	G	A	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.102G>A	p.S34S	syn	rs113155624	0.0208	A=3/G=8597;A=125/G=4281;A=128/G=12878	-	-	-	-	het	6
7	6	5368905	G	A	ENST00000602691	ENSG00000145982	5261277	5771813	ENSP00000473394	FARS2	1	-	c.102G>A	p.S34S	syn	rs113155624	0.0208	A=3/G=8597;A=125/G=4281;A=128/G=12878	-	-	-	-	het	6
8	6	5368973	C	G	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.170C>G	p.S57C	non-syn	rs34382405	0.0228	G=1/C=8599;G=94/C=4312;G=95/C=12911	lod=91:451	DAMAGING	B	-	het	1
9	6	5368973	C	G	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.170C>G	p.S57C	non-syn	rs34382405	0.0228	G=1/C=8599;G=94/C=4312;G=95/C=12911	lod=91:451	DAMAGING	B	-	het	1
10	6	5368986	C	T	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.183C>T	p.D61D	syn	rs73718082	0.009	T=11/C=8589;T=49/C=4357;T=60/C=12946	lod=91:451	-	-	-	het	1
11	6	5368986	C	T	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.183C>T	p.D61D	syn	rs73718082	0.009	T=11/C=8589;T=49/C=4357;T=60/C=12946	lod=91:451	-	-	-	het	1
12	6	5369087	A	G	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.284A>G	p.E95G	non-syn	NA	-	-	lod=216:544	TOLERATED	B	-	het	1
13	6	5369087	A	G	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.284A>G	p.E95G	non-syn	NA	-	-	lod=216:544	TOLERATED	B	-	het	1
14	6	5369142	C	T	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.339C>T	p.Y113Y	syn	rs41302853	0.0576	T=60/C=8540;T=302/C=4104;T=362/C=12644	lod=27:321	-	-	-	het	26
15	6	5369142	C	T	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.339C>T	p.Y113Y	syn	rs41302853	0.0576	T=60/C=8540;T=302/C=4104;T=362/C=12644	lod=27:321	-	-	-	hom	1
16	6	5369142	C	T	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.339C>T	p.Y113Y	syn	rs41302853	0.0576	T=60/C=8540;T=302/C=4104;T=362/C=12644	lod=27:321	-	-	-	het	26
17	6	5369142	C	T	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.339C>T	p.Y113Y	syn	rs41302853	0.0576	T=60/C=8540;T=302/C=4104;T=362/C=12644	lod=27:321	-	-	-	hom	1
18	6	5369210	C	A	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.407C>A	p.P136H	non-syn	rs199863563	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	lod=203:537	DAMAGING	D	-	het	4
19	6	5369210	C	A	ENST00000324331	ENSG00000145982	5261277	5771813	ENSP00000316335	FARS2	1	SYFM_HUMAN	c.407C>A	p.P136H	non-syn	rs199863563	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	lod=203:537	DAMAGING	D	-	het	4
20	6	5369309	A	T	ENST00000274680	ENSG00000145982	5261277	5771813	ENSP00000274680	FARS2	1	SYFM_HUMAN	c.506A>T	p.D169V	non-syn	rs146356199	0.0015	T=0/A=8600;T=21/A=4385;T=21/A=12985	lod=44:374	DAMAGING	P	-	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.

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Transcripts and variants in the surrounding FARS2 6:5261277..5771813 region Gbrowse