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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 MYOT:

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
ENSG00000120729	MYOT	0	0	24	ENSG00000120729	ENST00000239926	ENSP00000239926	myotilin [Source:HGNC Symbol;Acc:12399]	5	137203480	137223540	1	q31.2	137203480	137223540	MYOT	MYOT-001	HGNC Symbol	HGNC transcript name	8	37.01	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9499	12399	MYOT	NM_006790	27527

MSeqDR Master Exome Data Set M1: 92 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	5	137206256	G	T	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	5	137206460	T	A	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.120T>A	p.I40I	syn	rs139254363	-	A=9/T=8591;A=0/T=4406;A=9/T=12997	-	-	-	-	het	1
3	5	137206476	C	G	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.136C>G	p.Q46E	non-syn	NA	-	-	lod=314:584	TOLERATED	P	-	het	2
4	5	137206489	A	G	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.149A>G	p.Q50R	non-syn	rs34717730	0.1037	G=7/A=8593;G=327/A=4079;G=334/A=12672	lod=314:584	TOLERATED	P	-	het	6
5	5	137206489	A	G	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.149A>G	p.Q50R	non-syn	rs34717730	0.1037	G=7/A=8593;G=327/A=4079;G=334/A=12672	lod=314:584	TOLERATED	P	-	hom	1
6	5	137206560	A	C	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.220A>C	p.K74Q	non-syn	rs6890689	1	C=8600/A=0;C=4213/A=193;C=12813/A=193	lod=314:584	TOLERATED	NA	HGMD	hom	981
7	5	137206560	A	C	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.220A>C	p.K74Q	non-syn	rs6890689	1	C=8600/A=0;C=4213/A=193;C=12813/A=193	lod=314:584	TOLERATED	NA	HGMD	het	1
8	5	137206560	A	C	ENST00000515645	ENSG00000120729	137203480	137223540	ENSP00000426281	MYOT	1	-	-	-	-6bp 3'_splice_site	rs6890689	1	C=8600/A=0;C=4213/A=193;C=12813/A=193	lod=314:584	TOLERATED	NA	HGMD	hom	981
9	5	137206560	A	C	ENST00000515645	ENSG00000120729	137203480	137223540	ENSP00000426281	MYOT	1	-	-	-	-6bp 3'_splice_site	rs6890689	1	C=8600/A=0;C=4213/A=193;C=12813/A=193	lod=314:584	TOLERATED	NA	HGMD	het	1
10	5	137206580	C	T	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.240C>T	p.N80N	syn	NA	-	-	lod=295:577	-	-	-	het	1
11	5	137206580	C	T	ENST00000515645	ENSG00000120729	137203480	137223540	ENSP00000426281	MYOT	1	-	-	-	5'_UTR	NA	-	-	lod=295:577	-	-	-	het	1
12	5	137206683	G	A	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.343G>A	p.A115T	non-syn	rs114194130	0.00181	A=12/G=8588;A=0/G=4406;A=12/G=12994	-	TOLERATED	B	-	het	3
13	5	137206683	G	A	ENST00000515645	ENSG00000120729	137203480	137223540	ENSP00000426281	MYOT	1	-	-	-	5'_UTR	rs114194130	0.00181	A=12/G=8588;A=0/G=4406;A=12/G=12994	-	TOLERATED	B	-	het	3
14	5	137211606	G	C	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	c.445G>C	p.E149Q	non-syn	rs71578935	-	C=23/G=8577;C=1/G=4405;C=24/G=12982	lod=492:632	DAMAGING	D	-	het	11
15	5	137211606	G	C	ENST00000421631	ENSG00000120729	137203480	137223540	ENSP00000391185	MYOT	1	MYOTI_HUMAN	-	-	5'_UTR	rs71578935	-	C=23/G=8577;C=1/G=4405;C=24/G=12982	lod=492:632	DAMAGING	D	-	het	11
16	5	137211606	G	C	ENST00000509812	ENSG00000120729	137203480	137223540	-	MYOT	1	-	c.268G>C	p.E90Q	non-syn	rs71578935	-	C=23/G=8577;C=1/G=4405;C=24/G=12982	lod=492:632	DAMAGING	D	-	het	11
17	5	137211606	G	C	ENST00000511625	ENSG00000120729	137203480	137223540	-	MYOT	1	-	c.268G>C	p.E90Q	non-syn	rs71578935	-	C=23/G=8577;C=1/G=4405;C=24/G=12982	lod=492:632	DAMAGING	D	-	het	11
18	5	137211606	G	C	ENST00000515645	ENSG00000120729	137203480	137223540	ENSP00000426281	MYOT	1	-	c.100G>C	p.E34Q	non-syn	rs71578935	-	C=23/G=8577;C=1/G=4405;C=24/G=12982	lod=492:632	DAMAGING	D	-	het	11
19	5	137211711	T	C	ENST00000239926	ENSG00000120729	137203480	137223540	ENSP00000239926	MYOT	1	MYOTI_HUMAN	-	-	+19bp 5'_splice_site	NA	-	-	lod=16:265	-	-	-	het	4
20	5	137211711	T	C	ENST00000421631	ENSG00000120729	137203480	137223540	ENSP00000391185	MYOT	1	MYOTI_HUMAN	-	-	+19bp 5'_splice_site	NA	-	-	lod=16:265	-	-	-	het	4

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding MYOT 5:137203480..137223540 region Gbrowse