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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 TMEM70:

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
ENSG00000175606	TMEM70	1	256	20	ENSG00000175606	ENST00000520167		transmembrane protein 70 [Source:HGNC Symbol;Acc:26050]	8	74884672	74895018	1	q21.11	74884672	74891369	TMEM70	TMEM70-007	HGNC Symbol	HGNC transcript name	7	43.8	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	54968	26050	TMEM70		27523

MSeqDR Master Exome Data Set M1: 91 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	8	74888440	C	A	ENST00000416961	ENSG00000175606	74884672	74895018	ENSP00000407695	TMEM70	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	8	74888494	C	T	ENST00000312184	ENSG00000175606	74884672	74895018	ENSP00000312599	TMEM70	1	TMM70_HUMAN	-	-	5'_UTR	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	hom	75
3	8	74888494	C	T	ENST00000312184	ENSG00000175606	74884672	74895018	ENSP00000312599	TMEM70	1	TMM70_HUMAN	-	-	5'_UTR	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	het	307
4	8	74888494	C	T	ENST00000416961	ENSG00000175606	74884672	74895018	ENSP00000407695	TMEM70	1	-	-	-	5'_UTR	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	hom	75
5	8	74888494	C	T	ENST00000416961	ENSG00000175606	74884672	74895018	ENSP00000407695	TMEM70	1	-	-	-	5'_UTR	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	het	307
6	8	74888494	C	T	ENST00000517439	ENSG00000175606	74884672	74895018	ENSP00000429467	TMEM70	1	-	-	-	5'_UTR	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	hom	75
7	8	74888494	C	T	ENST00000517439	ENSG00000175606	74884672	74895018	ENSP00000429467	TMEM70	1	-	-	-	5'_UTR	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	het	307
8	8	74888494	C	T	ENST00000517614	ENSG00000175606	74884672	74895018	-	TMEM70	1	-	c.41C>T	p.P14L	non-syn	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	hom	75
9	8	74888494	C	T	ENST00000517614	ENSG00000175606	74884672	74895018	-	TMEM70	1	-	c.41C>T	p.P14L	non-syn	rs2306486	0.2716	T=2529/C=6057;T=645/C=3753;T=3174/C=9810	-	-	-	-	het	307
10	8	74888616	G	C	ENST00000312184	ENSG00000175606	74884672	74895018	ENSP00000312599	TMEM70	1	TMM70_HUMAN	c.100G>C	p.A34P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	het	179
11	8	74888616	G	C	ENST00000312184	ENSG00000175606	74884672	74895018	ENSP00000312599	TMEM70	1	TMM70_HUMAN	c.100G>C	p.A34P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	hom	23
12	8	74888616	G	C	ENST00000416961	ENSG00000175606	74884672	74895018	ENSP00000407695	TMEM70	1	-	c.100G>C	p.A34P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	het	179
13	8	74888616	G	C	ENST00000416961	ENSG00000175606	74884672	74895018	ENSP00000407695	TMEM70	1	-	c.100G>C	p.A34P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	hom	23
14	8	74888616	G	C	ENST00000517439	ENSG00000175606	74884672	74895018	ENSP00000429467	TMEM70	1	-	c.100G>C	p.A34P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	het	179
15	8	74888616	G	C	ENST00000517439	ENSG00000175606	74884672	74895018	ENSP00000429467	TMEM70	1	-	c.100G>C	p.A34P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	hom	23
16	8	74888616	G	C	ENST00000517614	ENSG00000175606	74884672	74895018	-	TMEM70	1	-	c.163G>C	p.A55P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	het	179
17	8	74888616	G	C	ENST00000517614	ENSG00000175606	74884672	74895018	-	TMEM70	1	-	c.163G>C	p.A55P	non-syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	hom	23
18	8	74888616	G	C	ENST00000523794	ENSG00000175606	74884672	74895018	-	TMEM70	1	-	c.651G>C	p.G217G	syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	het	179
19	8	74888616	G	C	ENST00000523794	ENSG00000175606	74884672	74895018	-	TMEM70	1	-	c.651G>C	p.G217G	syn	rs8075	0.2721	C=1112/G=7432;C=1119/G=3259;C=2231/G=10691	-	TOLERATED	P	-	hom	23
20	8	74890985	C	T	ENST00000312184	ENSG00000175606	74884672	74895018	ENSP00000312599	TMEM70	1	TMM70_HUMAN	-	-	-6bp 3'_splice_site	rs113669789	0.00465	T=34/C=8566;T=4/C=4402;T=38/C=12968	lod=25:313	-	-	-	het	11

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Transcripts and variants in the surrounding TMEM70 8:74884672..74895018 region Gbrowse