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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 ENSG00000136463:

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
ENSG00000136463	TACO1	1	24	9	ENSG00000136463	ENST00000258975	ENSP00000258975	translational activator of mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:24316]	17	61678231	61685725	1	q23.3	61678231	61685725	TACO1	TACO1-001	HGNC Symbol	HGNC transcript name	2	49.33	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51204	24316	TACO1	NM_016360	27509

MSeqDR Master Exome Data Set M1: 10 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	17	61682008	C	A	ENST00000258975	ENSG00000136463	61678231	61685725	ENSP00000258975	TACO1	1	TACO1_HUMAN	-	-	+8bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
2	17	61682008	C	A	ENST00000581120	ENSG00000136463	61678231	61685725	-	TACO1	1	-	-	-	+8bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
3	17	61683718	G	A	ENST00000258975	ENSG00000136463	61678231	61685725	ENSP00000258975	TACO1	1	TACO1_HUMAN	c.433G>A	p.G145S	non-syn	rs35252424	0.0368	A=2/G=8598;A=193/G=4213;A=195/G=12811	lod=208:540	DAMAGING	D	-	het	9
4	17	61683718	G	A	ENST00000581120	ENSG00000136463	61678231	61685725	-	TACO1	1	-	c.635G>A	p.W212*	non-syn	rs35252424	0.0368	A=2/G=8598;A=193/G=4213;A=195/G=12811	lod=208:540	DAMAGING	D	-	het	9
5	17	61683783	T	C	ENST00000258975	ENSG00000136463	61678231	61685725	ENSP00000258975	TACO1	1	TACO1_HUMAN	c.498T>C	p.H166H	syn	rs17549732	0.00093	C=31/T=8569;C=3/T=4403;C=34/T=12972	lod=118:479	-	-	-	het	7
6	17	61683783	T	C	ENST00000581120	ENSG00000136463	61678231	61685725	-	TACO1	1	-	c.700T>C	p.Y234H	non-syn	rs17549732	0.00093	C=31/T=8569;C=3/T=4403;C=34/T=12972	lod=118:479	-	-	-	het	7
7	17	61683854	C	A	ENST00000581120	ENSG00000136463	61678231	61685725	-	TACO1	1	-	c.771C>A	p.F257L	non-syn	rs201718060	-	-	-	-	-	-	het	4
8	17	61683854	C	A	ENST00000581120	ENSG00000136463	61678231	61685725	-	TACO1	1	-	c.771C>A	p.F257L	non-syn	rs201718060	-	-	-	-	-	-	hom	1
9	17	61684629	T	A	ENST00000258975	ENSG00000136463	61678231	61685725	ENSP00000258975	TACO1	1	TACO1_HUMAN	-	-	-18bp 3'_splice_site	rs138066238	0.00278	A=45/T=8555;A=3/T=4403;A=48/T=12958	-	-	-	-	het	5
10	17	61684629	T	A	ENST00000581120	ENSG00000136463	61678231	61685725	-	TACO1	1	-	c.1546T>A	p.C516S	non-syn	rs138066238	0.00278	A=45/T=8555;A=3/T=4403;A=48/T=12958	-	-	-	-	het	5

** 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**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding TACO1 17:61678231..61685725 region Gbrowse