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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 ENSG00000117593:

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
ENSG00000117593	DARS2	1	64	23	ENSG00000117593	ENST00000361951	ENSP00000355086	aspartyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:25538]	1	173793641	173827684	1	q25.1	173793641	173827684	DARS2	DARS2-001	HGNC Symbol	HGNC transcript name	4	40.56	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	55157	25538	DARS2	NM_018122	27511

MSeqDR Master Exome Data Set M1: 63 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	173793849	T	C	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	1	173793849	T	C	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	1	173793882	C	T	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	1	173793882	C	T	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
5	1	173794013	C	A	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	1	173794013	C	A	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	1	173794241	T	A	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	1	173794241	T	A	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	1	173794399	A	G	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	NA	-	-	-	TOLERATED	B	-	het	1
10	1	173794399	A	G	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	c.32A>G	p.Y11C	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
11	1	173795839	G	A	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	NA	-	-	lod=59:405	TOLERATED	B	-	het	1
12	1	173795839	G	A	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	c.142G>A	p.V48I	non-syn	NA	-	-	lod=59:405	TOLERATED	B	-	het	1
13	1	173797451	T	-C	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	-19bp 3'_splice_site	NA	-	-	-	-	-	-	het	4
14	1	173797451	T	+C	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	-20bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
15	1	173797451	T	C	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	-20bp 3'_splice_site	rs55878143	-	-	-	-	-	-	hom	4
16	1	173797451	T	-C	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	-19bp 3'_splice_site	NA	-	-	-	-	-	-	het	4
17	1	173797451	T	+C	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	-20bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
18	1	173797451	T	C	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	-	-	-20bp 3'_splice_site	rs55878143	-	-	-	-	-	-	hom	4
19	1	173797504	T	C	ENST00000239457	ENSG00000117593	173793641	173827684	ENSP00000239457	DARS2	1	-	-	-	5'_UTR	rs182096636	0.00193	C=2/T=8598;C=0/T=4406;C=2/T=13004	lod=293:576	-	-	-	het	1
20	1	173797504	T	C	ENST00000361951	ENSG00000117593	173793641	173827684	ENSP00000355086	DARS2	1	SYDM_HUMAN	c.261T>C	p.D87D	syn	rs182096636	0.00193	C=2/T=8598;C=0/T=4406;C=2/T=13004	lod=293:576	-	-	-	het	1

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Transcripts and variants in the surrounding DARS2 1:173793641..173827684 region Gbrowse