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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 MYH7:

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
ENSG00000092054	MYH7	1	36	892	ENSG00000092054	ENST00000355349	ENSP00000347507	myosin, heavy chain 7, cardiac muscle, beta [Source:HGNC Symbol;Acc:7577]	14	23881947	23904927	-1	q11.2	23881947	23904927	MYH7	MYH7-001	HGNC Symbol	HGNC transcript name	1	53.09	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4625	7577	MYH7	NM_000257	27520

MSeqDR Master Exome Data Set M1: 93 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	14	23881950	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	-	-	3'_UTR	rs17794387	0.06966	-	-	-	-	-	het	116
2	14	23881950	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	-	-	3'_UTR	rs17794387	0.06966	-	-	-	-	-	hom	2
3	14	23882043	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	-	-	3'_UTR	rs45548631	0.00463	T=57/C=8543;T=6/C=4400;T=63/C=12943	-	-	-	-	het	5
4	14	23883022	G	A	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.5736C>T	p.I1912I	syn	rs200728597	-	-	lod=62:410	-	-	-	het	1
5	14	23883062	A	G	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.5696T>C	p.V1899A	non-syn	NA	-	-	lod=452:623	TOLERATED	B	-	het	4
6	14	23883097	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.5661G>A	p.E1887E	syn	rs145905770	-	-	lod=452:623	-	-	-	het	1
7	14	23883318	G	A	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	-	-	-7bp 3'_splice_site	NA	-	-	lod=183:526	-	-	-	het	2
8	14	23884236	T	C	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.5527A>G	p.S1843G	non-syn	rs200157204	-	-	lod=339:592	TOLERATED	B	-	het	2
9	14	23884571	G	A	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	-	-	+19bp 5'_splice_site	rs45582836	-	A=4/G=8596;A=0/G=4406;A=4/G=13002	-	-	-	-	het	1
10	14	23884889	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.5106G>A	p.A1702A	syn	rs3729830	0.2029	T=1133/C=7467;T=956/C=3450;T=2089/C=10917	lod=71:425	-	-	-	het	196
11	14	23884889	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.5106G>A	p.A1702A	syn	rs3729830	0.2029	T=1133/C=7467;T=956/C=3450;T=2089/C=10917	lod=71:425	-	-	-	hom	20
12	14	23885018	A	G	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4977T>C	p.D1659D	syn	NA	-	-	lod=168:517	-	-	-	het	1
13	14	23885198	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	-	-	+15bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
14	14	23885359	C	T	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4807G>A	p.A1603T	non-syn	NA	-	-	lod=34:346	DAMAGING	B	-	het	2
15	14	23885360	G	A	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4806C>T	p.D1602D	syn	rs142034311	-	-	lod=387:606	-	-	-	het	1
16	14	23885450	G	A	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4716C>T	p.I1572I	syn	rs7140196	0.0473	A=1/G=8599;A=225/G=4181;A=226/G=12780	lod=436:619	-	-	-	het	3
17	14	23886155	A	G	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4566T>C	p.T1522T	syn	rs2754155	0.00949	G=58/A=8542;G=12/A=4394;G=70/A=12936	lod=215:543	-	-	-	het	20
18	14	23886155	A	G	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4566T>C	p.T1522T	syn	rs2754155	0.00949	G=58/A=8542;G=12/A=4394;G=70/A=12936	lod=215:543	-	-	-	hom	1
19	14	23886409	G	C	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4472C>G	p.S1491C	non-syn	rs3729823	0.0098	C=99/G=8501;C=13/G=4393;C=112/G=12894	lod=484:630	DAMAGING	B	Cardiomyopathy, hypertrophic ?	het	24
20	14	23886504	C	A	ENST00000355349	ENSG00000092054	23881947	23904927	ENSP00000347507	MYH7	-1	MYH7_HUMAN	c.4377G>T	p.K1459N	non-syn	rs201307101	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	lod=233:552	DAMAGING	D	HGMD	het	3

** 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 MYH7 14:23881947..23904927 region Gbrowse