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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 MYOC:

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
ENSG00000034971	MYOC	0	0	21	ENSG00000034971	ENST00000037502	ENSP00000037502	myocilin, trabecular meshwork inducible glucocorticoid response [Source:HGNC Symbol;Acc:7610]	1	171604557	171621823	-1	q24.3	171604557	171621823	MYOC	MYOC-001	HGNC Symbol	HGNC transcript name	1	45.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4653	7610	MYOC	NM_000261	27511

MSeqDR Master Exome Data Set M1: 23 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	1	171604639	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	-	-	3'_UTR	rs142425726	0.00454	-	-	-	-	-	het	11
2	1	171604777	C	T	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	1	171605246	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.1334C>T	p.A445V	non-syn	rs140967767	-	A=3/G=8597;A=1/G=4405;A=4/G=13002	-	TOLERATED	B	HGMD	het	2
4	1	171605387	T	C	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.1193A>G	p.K398R	non-syn	rs56314834	0.00469	C=48/T=8552;C=5/T=4401;C=53/T=12953	lod=39:361	TOLERATED	B	Glaucoma 1, open angle ?	het	17
5	1	171605478	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.1102C>T	p.Q368*	non-syn	rs74315329	-	A=12/G=8588;A=0/G=4406;A=12/G=12994	lod=121:482	TOLERATED	NA	HGMD	het	1
6	1	171605526	C	T	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.1054G>A	p.E352K	non-syn	rs61745146	0.0114	T=2/C=8598;T=55/C=4351;T=57/C=12949	lod=20:289	DAMAGING	D	HGMD	het	2
7	1	171605527	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.1053C>T	p.T351T	syn	rs202003673	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	-	-	-	-	het	3
8	1	171605539	A	G	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.1041T>C	p.Y347Y	syn	rs61730974	0.01862	G=263/A=8337;G=21/A=4385;G=284/A=12722	lod=42:369	-	-	HGMD	het	72
9	1	171605605	C	T	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.975G>A	p.T325T	syn	rs61730976	0.057	T=3/C=8597;T=337/C=4069;T=340/C=12666	lod=51:389	-	-	HGMD	het	9
10	1	171605702	G	T	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.878C>A	p.T293K	non-syn	rs139122673	-	T=4/G=8596;T=3/G=4403;T=7/G=12999	-	TOLERATED	B	HGMD	het	1
11	1	171605725	C	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.855G>T	p.T285T	syn	rs146606638	0.00382	A=25/C=8575;A=4/C=4402;A=29/C=12977	lod=38:358	-	-	-	het	3
12	1	171607833	A	C	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.634T>G	p.F212V	non-syn	rs148167336	-	C=2/A=8598;C=0/A=4406;C=2/A=13004	lod=112:473	DAMAGING	D	-	het	1
13	1	171607855	C	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.612G>T	p.T204T	syn	rs57824969	0.0043	A=1/C=8599;A=44/C=4362;A=45/C=12961	-	-	-	-	het	1
14	1	171621163	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.589C>T	p.P197S	non-syn	NA	-	-	-	TOLERATED	B	-	hom	1
15	1	171621275	T	C	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.477A>G	p.L159L	syn	rs61730977	0.0417	C=3/T=8597;C=296/T=4110;C=299/T=12707	-	-	-	-	het	5
16	1	171621375	C	T	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.377G>A	p.R126Q	non-syn	rs144709484	-	T=0/C=8600;T=1/C=4405;T=1/C=13005	-	TOLERATED	P	-	het	1
17	1	171621386	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.366C>T	p.G122G	syn	rs145354114	0.0051	A=24/G=8576;A=3/G=4403;A=27/G=12979	-	-	-	-	het	7
18	1	171621480	C	T	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.272G>A	p.R91Q	non-syn	NA	-	-	lod=43:371	DAMAGING	D	-	het	3
19	1	171621508	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.244C>T	p.R82C	non-syn	NA	-	-	lod=12:235	DAMAGING	D	HGMD	het	2
20	1	171621518	G	A	ENST00000037502	ENSG00000034971	171604557	171621823	ENSP00000037502	MYOC	-1	MYOC_HUMAN	c.234C>T	p.S78S	syn	NA	-	-	lod=70:423	-	-	-	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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Transcripts and variants in the surrounding MYOC 1:171604557..171621823 region Gbrowse