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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 MYO7A:

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
ENSG00000137474	MYO7A	1	230	370	ENSG00000137474	ENST00000409893	ENSP00000386689	myosin VIIA [Source:HGNC Symbol;Acc:7606]	11	76839310	76926284	1	q13.5	76839316	76896041	MYO7A	MYO7A-005	HGNC Symbol	HGNC transcript name	10	55.05	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	4647	7606	MYO7A	NM_001127179	27504
ENSG00000261910	MYO7A	1	0	370	ENSG00000261910	ENST00000576890		myosin VIIA [Source:HGNC Symbol;Acc:7606]	HG414_PATCH	76839307	76926281	1	q13.5	76923577	76924960	MYO7A	MYO7A-008	HGNC Symbol	HGNC transcript name	10	55.05	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	4647	7606	MYO7A		1000558278

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MSeqDR Master Exome Data Set M1: 803 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	11	76853783	T	C	ENST00000409619	ENSG00000137474	76839310	76926284	ENSP00000386635	MYO7A	1	-	c.14T>C	p.L5S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	het	430
2	11	76853783	T	C	ENST00000409619	ENSG00000137474	76839310	76926284	ENSP00000386635	MYO7A	1	-	c.14T>C	p.L5S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	hom	200
3	11	76853783	T	C	ENST00000409709	ENSG00000137474	76839310	76926284	ENSP00000386331	MYO7A	1	MYO7A_HUMAN	c.47T>C	p.L16S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	het	430
4	11	76853783	T	C	ENST00000409709	ENSG00000137474	76839310	76926284	ENSP00000386331	MYO7A	1	MYO7A_HUMAN	c.47T>C	p.L16S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	hom	200
5	11	76853783	T	C	ENST00000409893	ENSG00000137474	76839310	76926284	ENSP00000386689	MYO7A	1	-	c.47T>C	p.L16S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	het	430
6	11	76853783	T	C	ENST00000409893	ENSG00000137474	76839310	76926284	ENSP00000386689	MYO7A	1	-	c.47T>C	p.L16S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	hom	200
7	11	76853783	T	C	ENST00000458637	ENSG00000137474	76839310	76926284	ENSP00000392185	MYO7A	1	MYO7A_HUMAN	c.47T>C	p.L16S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	het	430
8	11	76853783	T	C	ENST00000458637	ENSG00000137474	76839310	76926284	ENSP00000392185	MYO7A	1	MYO7A_HUMAN	c.47T>C	p.L16S	non-syn	rs1052030	0.6646	C=2871/T=5517;C=3006/T=1148;C=5877/T=6665	lod=191:531	TOLERATED	-	HGMD	hom	200
9	11	76858827	G	A	ENST00000409619	ENSG00000137474	76839310	76926284	ENSP00000386635	MYO7A	1	-	-	-	-17bp 3'_splice_site	NA	-	A=0/G=8456;A=15/G=4273;A=15/G=12729	-	-	-	-	het	1
10	11	76858827	G	A	ENST00000409709	ENSG00000137474	76839310	76926284	ENSP00000386331	MYO7A	1	MYO7A_HUMAN	-	-	-17bp 3'_splice_site	NA	-	A=0/G=8456;A=15/G=4273;A=15/G=12729	-	-	-	-	het	1
11	11	76858827	G	A	ENST00000409893	ENSG00000137474	76839310	76926284	ENSP00000386689	MYO7A	1	-	-	-	-17bp 3'_splice_site	NA	-	A=0/G=8456;A=15/G=4273;A=15/G=12729	-	-	-	-	het	1
12	11	76858827	G	A	ENST00000458637	ENSG00000137474	76839310	76926284	ENSP00000392185	MYO7A	1	MYO7A_HUMAN	-	-	-17bp 3'_splice_site	NA	-	A=0/G=8456;A=15/G=4273;A=15/G=12729	-	-	-	-	het	1
13	11	76858837	C	T	ENST00000409619	ENSG00000137474	76839310	76926284	ENSP00000386635	MYO7A	1	-	-	-	-7bp 3'_splice_site	rs111033221	0.0074	T=47/C=8425;T=6/C=4278;T=53/C=12703	-	-	-	-	het	20
14	11	76858837	C	T	ENST00000409709	ENSG00000137474	76839310	76926284	ENSP00000386331	MYO7A	1	MYO7A_HUMAN	-	-	-7bp 3'_splice_site	rs111033221	0.0074	T=47/C=8425;T=6/C=4278;T=53/C=12703	-	-	-	-	het	20
15	11	76858837	C	T	ENST00000409893	ENSG00000137474	76839310	76926284	ENSP00000386689	MYO7A	1	-	-	-	-7bp 3'_splice_site	rs111033221	0.0074	T=47/C=8425;T=6/C=4278;T=53/C=12703	-	-	-	-	het	20
16	11	76858837	C	T	ENST00000458637	ENSG00000137474	76839310	76926284	ENSP00000392185	MYO7A	1	MYO7A_HUMAN	-	-	-7bp 3'_splice_site	rs111033221	0.0074	T=47/C=8425;T=6/C=4278;T=53/C=12703	-	-	-	-	het	20
17	11	76858873	G	C	ENST00000409619	ENSG00000137474	76839310	76926284	ENSP00000386635	MYO7A	1	-	c.129G>C	p.T43T	syn	NA	-	-	lod=406:611	-	-	-	het	1
18	11	76858873	G	C	ENST00000409709	ENSG00000137474	76839310	76926284	ENSP00000386331	MYO7A	1	MYO7A_HUMAN	c.162G>C	p.T54T	syn	NA	-	-	lod=406:611	-	-	-	het	1
19	11	76858873	G	C	ENST00000409893	ENSG00000137474	76839310	76926284	ENSP00000386689	MYO7A	1	-	c.162G>C	p.T54T	syn	NA	-	-	lod=406:611	-	-	-	het	1
20	11	76858873	G	C	ENST00000458637	ENSG00000137474	76839310	76926284	ENSP00000392185	MYO7A	1	MYO7A_HUMAN	c.162G>C	p.T54T	syn	NA	-	-	lod=406:611	-	-	-	het	1

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Transcripts and variants in the surrounding MYO7A 11:76839310..76926284 region Gbrowse