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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 ENSG00000150768:

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
ENSG00000150768	DLAT	1	15	19	ENSG00000150768	ENST00000280346	ENSP00000280346	dihydrolipoamide S-acetyltransferase [Source:HGNC Symbol;Acc:2896]	11	111895538	111935114	1	q23.1	111895538	111935114	DLAT	DLAT-001	HGNC Symbol	HGNC transcript name	6	41.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1737	2896	DLAT	NM_001931	27504

MSeqDR Master Exome Data Set M1: 201 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	11	111895550	C	A	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	rs190887558	0.0075	-	-	-	-	-	het	2
2	11	111895560	G	A	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	rs114863504	0.0402	-	-	-	-	-	het	3
3	11	111895599	C	T	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	rs78298568	0.1348	-	-	-	-	-	hom	1
4	11	111895599	C	T	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	rs78298568	0.1348	-	-	-	-	-	het	20
5	11	111895607	G	A	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	11	111895848	C	T	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	11	111895985	C	G	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
8	11	111896013	G	A	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
9	11	111896072	A	C	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	11	111896107	G	C	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	lod=79:436	-	-	-	het	3
11	11	111896127	A	C	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	11	111896251	G	C	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	c.55G>C	p.E19Q	non-syn	rs61757217	0.0129	C=98/G=8496;C=7/G=4395;C=105/G=12891	-	TOLERATED	B	-	het	19
13	11	111896251	G	C	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	c.55G>C	p.E19Q	non-syn	rs61757217	0.0129	C=98/G=8496;C=7/G=4395;C=105/G=12891	-	TOLERATED	B	-	hom	1
14	11	111896251	G	C	ENST00000393051	ENSG00000150768	111895538	111935114	ENSP00000376771	DLAT	1	-	c.55G>C	p.E19Q	non-syn	rs61757217	0.0129	C=98/G=8496;C=7/G=4395;C=105/G=12891	-	TOLERATED	B	-	het	19
15	11	111896251	G	C	ENST00000393051	ENSG00000150768	111895538	111935114	ENSP00000376771	DLAT	1	-	c.55G>C	p.E19Q	non-syn	rs61757217	0.0129	C=98/G=8496;C=7/G=4395;C=105/G=12891	-	TOLERATED	B	-	hom	1
16	11	111896251	G	C	ENST00000533297	ENSG00000150768	111895538	111935114	ENSP00000435374	DLAT	1	-	c.55G>C	p.E19Q	non-syn	rs61757217	0.0129	C=98/G=8496;C=7/G=4395;C=105/G=12891	-	TOLERATED	B	-	het	19
17	11	111896251	G	C	ENST00000533297	ENSG00000150768	111895538	111935114	ENSP00000435374	DLAT	1	-	c.55G>C	p.E19Q	non-syn	rs61757217	0.0129	C=98/G=8496;C=7/G=4395;C=105/G=12891	-	TOLERATED	B	-	hom	1
18	11	111896324	C	T	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	c.128C>T	p.A43V	non-syn	rs2303436	0.4831	T=2969/C=5623;T=983/C=3419;T=3952/C=9042	-	TOLERATED	B	-	het	376
19	11	111896324	C	T	ENST00000280346	ENSG00000150768	111895538	111935114	ENSP00000280346	DLAT	1	ODP2_HUMAN	c.128C>T	p.A43V	non-syn	rs2303436	0.4831	T=2969/C=5623;T=983/C=3419;T=3952/C=9042	-	TOLERATED	B	-	hom	109
20	11	111896324	C	T	ENST00000393051	ENSG00000150768	111895538	111935114	ENSP00000376771	DLAT	1	-	c.128C>T	p.A43V	non-syn	rs2303436	0.4831	T=2969/C=5623;T=983/C=3419;T=3952/C=9042	-	TOLERATED	B	-	het	376

** 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 DLAT 11:111895538..111935114 region Gbrowse