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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 TAF1:

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
ENSG00000147133	TAF1	0	0	8	ENSG00000147133	ENST00000462588		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa [Source:HGNC Symbol;Acc:11535]	X	70586114	70752224	1	q13.1	70643008	70750205	TAF1	TAF1-012	HGNC Symbol	HGNC transcript name	21	43.38	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	6872	11535	TAF1		27516

MSeqDR Master Exome Data Set M1: 365 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	X	70586252	T	G	ENST00000276072	ENSG00000147133	70586114	70752224	ENSP00000276072	TAF1	1	TAF1_HUMAN	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	het	1
2	X	70586252	T	G	ENST00000276072	ENSG00000147133	70586114	70752224	ENSP00000276072	TAF1	1	TAF1_HUMAN	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	hom	1
3	X	70586252	T	G	ENST00000373790	ENSG00000147133	70586114	70752224	ENSP00000362895	TAF1	1	TAF1_HUMAN	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	het	1
4	X	70586252	T	G	ENST00000373790	ENSG00000147133	70586114	70752224	ENSP00000362895	TAF1	1	TAF1_HUMAN	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	hom	1
5	X	70586252	T	G	ENST00000423759	ENSG00000147133	70586114	70752224	ENSP00000406549	TAF1	1	-	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	het	1
6	X	70586252	T	G	ENST00000423759	ENSG00000147133	70586114	70752224	ENSP00000406549	TAF1	1	-	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	hom	1
7	X	70586252	T	G	ENST00000449580	ENSG00000147133	70586114	70752224	ENSP00000389000	TAF1	1	TAF1_HUMAN	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	het	1
8	X	70586252	T	G	ENST00000449580	ENSG00000147133	70586114	70752224	ENSP00000389000	TAF1	1	TAF1_HUMAN	c.88T>G	p.S30A	non-syn	NA	-	-	lod=34:346	TOLERATED	B	-	hom	1
9	X	70586311	C	G	ENST00000276072	ENSG00000147133	70586114	70752224	ENSP00000276072	TAF1	1	TAF1_HUMAN	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	het	5
10	X	70586311	C	G	ENST00000276072	ENSG00000147133	70586114	70752224	ENSP00000276072	TAF1	1	TAF1_HUMAN	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	hom	2
11	X	70586311	C	G	ENST00000373790	ENSG00000147133	70586114	70752224	ENSP00000362895	TAF1	1	TAF1_HUMAN	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	het	5
12	X	70586311	C	G	ENST00000373790	ENSG00000147133	70586114	70752224	ENSP00000362895	TAF1	1	TAF1_HUMAN	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	hom	2
13	X	70586311	C	G	ENST00000423759	ENSG00000147133	70586114	70752224	ENSP00000406549	TAF1	1	-	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	het	5
14	X	70586311	C	G	ENST00000423759	ENSG00000147133	70586114	70752224	ENSP00000406549	TAF1	1	-	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	hom	2
15	X	70586311	C	G	ENST00000449580	ENSG00000147133	70586114	70752224	ENSP00000389000	TAF1	1	TAF1_HUMAN	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	het	5
16	X	70586311	C	G	ENST00000449580	ENSG00000147133	70586114	70752224	ENSP00000389000	TAF1	1	TAF1_HUMAN	c.147C>G	p.A49A	syn	rs28382145	-	G=37/C=6690;G=3/C=3832;G=40/C=10522	lod=178:523	-	-	-	hom	2
17	X	70587371	G	A	ENST00000276072	ENSG00000147133	70586114	70752224	ENSP00000276072	TAF1	1	TAF1_HUMAN	c.203G>A	p.G68D	non-syn	rs148448660	-	A=1/G=6727;A=0/G=3835;A=1/G=10562	lod=235:553	TOLERATED	D	-	het	1
18	X	70587371	G	A	ENST00000373790	ENSG00000147133	70586114	70752224	ENSP00000362895	TAF1	1	TAF1_HUMAN	c.203G>A	p.G68D	non-syn	rs148448660	-	A=1/G=6727;A=0/G=3835;A=1/G=10562	lod=235:553	TOLERATED	D	-	het	1
19	X	70587371	G	A	ENST00000423759	ENSG00000147133	70586114	70752224	ENSP00000406549	TAF1	1	-	c.203G>A	p.G68D	non-syn	rs148448660	-	A=1/G=6727;A=0/G=3835;A=1/G=10562	lod=235:553	TOLERATED	D	-	het	1
20	X	70587371	G	A	ENST00000449580	ENSG00000147133	70586114	70752224	ENSP00000389000	TAF1	1	TAF1_HUMAN	c.203G>A	p.G68D	non-syn	rs148448660	-	A=1/G=6727;A=0/G=3835;A=1/G=10562	lod=235:553	TOLERATED	D	-	het	1

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding TAF1 X:70586114..70752224 region Gbrowse