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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 MYH8:

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
ENSG00000133020	MYH8	0	0	0	ENSG00000133020	ENST00000403437	ENSP00000384330	myosin, heavy chain 8, skeletal muscle, perinatal [Source:HGNC Symbol;Acc:7578]	17	10293639	10325267	-1	p13.1	10293639	10325267	MYH8	MYH8-001	HGNC Symbol	HGNC transcript name	1	38.91	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4626	7578	MYH8	NM_002472	27509

MSeqDR Master Exome Data Set M1: 80 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	10293659	T	C	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	17	10293695	C	G	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	-	-	3'_UTR	rs3744551	0.02106	-	-	-	-	-	het	47
3	17	10293699	A	G	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	-	-	3'_UTR	rs184845947	0.0014	-	-	-	-	-	het	1
4	17	10293748	T	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	-	-	3'_UTR	rs114608011	0.025	A=0/T=8600;A=108/T=4298;A=108/T=12898	lod=15:259	-	-	-	het	2
5	17	10293748	T	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	-	-	3'_UTR	rs114608011	0.025	A=0/T=8600;A=108/T=4298;A=108/T=12898	lod=15:259	-	-	-	hom	1
6	17	10295208	A	C	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5655T>G	p.A1885A	syn	NA	-	-	lod=190:530	-	-	-	het	1
7	17	10295235	C	T	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5628G>A	p.A1876A	syn	rs141000799	-	T=1/C=8599;T=3/C=4403;T=4/C=13002	lod=397:609	-	-	-	het	1
8	17	10295888	C	T	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5539G>A	p.E1847K	non-syn	NA	-	-	lod=241:555	DAMAGING	D	-	het	2
9	17	10295914	T	G	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5513A>C	p.E1838A	non-syn	rs111567318	0.00184	G=65/T=8535;G=4/T=4400;G=69/T=12935	lod=63:412	DAMAGING	P	-	het	4
10	17	10295963	C	T	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5464G>A	p.V1822I	non-syn	rs143876651	0.0057	T=2/C=8598;T=47/C=4359;T=49/C=12957	lod=229:550	TOLERATED	B	-	het	1
11	17	10296261	G	C	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5350C>G	p.R1784G	non-syn	rs141215006	0.0072	C=49/G=8547;C=7/G=4399;C=56/G=12946	lod=535:641	DAMAGING	D	-	het	8
12	17	10296261	G	T	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5350C>A	p.R1784R	syn	NA	-	C=49/G=8547;C=7/G=4399;C=56/G=12946	lod=535:641	-	-	-	het	1
13	17	10296315	C	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5296G>T	p.A1766S	non-syn	NA	-	-	lod=112:473	DAMAGING	B	-	het	1
14	17	10296486	G	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5208C>T	p.D1736D	syn	rs33969260	0.24727	A=2099/G=6501;A=239/G=4167;A=2338/G=10668	lod=373:602	-	-	-	het	421
15	17	10296486	G	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5208C>T	p.D1736D	syn	rs33969260	0.24727	A=2099/G=6501;A=239/G=4167;A=2338/G=10668	lod=373:602	-	-	-	hom	57
16	17	10296531	T	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	-	-	-4bp 3'_splice_site	NA	-	-	lod=373:602	-	-	-	het	1
17	17	10297658	A	G	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5074T>C	p.W1692R	non-syn	rs8069834	0.5164	G=5013/A=3585;G=3176/A=1230;G=8189/A=4815	lod=187:528	TOLERATED	B	-	het	457
18	17	10297658	A	G	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.5074T>C	p.W1692R	non-syn	rs8069834	0.5164	G=5013/A=3585;G=3176/A=1230;G=8189/A=4815	lod=187:528	TOLERATED	B	-	hom	330
19	17	10297734	G	A	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.4998C>T	p.G1666G	syn	NA	-	-	lod=252:560	-	-	-	het	1
20	17	10298503	G	T	ENST00000403437	ENSG00000133020	10293639	10325267	ENSP00000384330	MYH8	-1	MYH8_HUMAN	c.4909C>A	p.R1637S	non-syn	NA	-	-	lod=596:652	DAMAGING	D	-	het	1

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Transcripts and variants in the surrounding MYH8 17:10293639..10325267 region Gbrowse