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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 SRCAP:

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
ENSG00000080603	SRCAP	0	0	27	ENSG00000080603	ENST00000411466	ENSP00000405186	Snf2-related CREBBP activator protein [Source:HGNC Symbol;Acc:16974]	16	30709530	30755602	1	p11.2	30709530	30715630	SRCAP	SRCAP-004	HGNC Symbol	HGNC transcript name	7	49.66	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	10847	16974	SRCAP		27514

MSeqDR Master Exome Data Set M1: 414 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	16	30711953	T	G	ENST00000262518	ENSG00000080603	30709530	30755602	ENSP00000262518	SRCAP	1	SRCAP_HUMAN	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	3
2	16	30711953	T	G	ENST00000344771	ENSG00000080603	30709530	30755602	ENSP00000343042	SRCAP	1	SRCAP_HUMAN	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	3
3	16	30711953	T	G	ENST00000395059	ENSG00000080603	30709530	30755602	ENSP00000378499	SRCAP	1	SRCAP_HUMAN	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	3
4	16	30711953	T	G	ENST00000411466	ENSG00000080603	30709530	30755602	ENSP00000405186	SRCAP	1	-	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	3
5	16	30712018	C	T	ENST00000262518	ENSG00000080603	30709530	30755602	ENSP00000262518	SRCAP	1	SRCAP_HUMAN	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	1
6	16	30712018	C	T	ENST00000344771	ENSG00000080603	30709530	30755602	ENSP00000343042	SRCAP	1	SRCAP_HUMAN	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	1
7	16	30712018	C	T	ENST00000395059	ENSG00000080603	30709530	30755602	ENSP00000378499	SRCAP	1	SRCAP_HUMAN	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	1
8	16	30712018	C	T	ENST00000411466	ENSG00000080603	30709530	30755602	ENSP00000405186	SRCAP	1	-	-	-	5'_UTR	NA	-	-	lod=716:672	-	-	-	het	1
9	16	30715462	C	T	ENST00000262518	ENSG00000080603	30709530	30755602	ENSP00000262518	SRCAP	1	SRCAP_HUMAN	c.132C>T	p.G44G	syn	rs149628651	0.0044	T=29/C=8295;T=1/C=3955;T=30/C=12250	lod=241:555	-	-	-	het	9
10	16	30715462	C	T	ENST00000344771	ENSG00000080603	30709530	30755602	ENSP00000343042	SRCAP	1	SRCAP_HUMAN	c.132C>T	p.G44G	syn	rs149628651	0.0044	T=29/C=8295;T=1/C=3955;T=30/C=12250	lod=241:555	-	-	-	het	9
11	16	30715462	C	T	ENST00000380361	ENSG00000080603	30709530	30755602	ENSP00000369719	SRCAP	1	SRCAP_HUMAN	c.75C>T	p.G25G	syn	rs149628651	0.0044	T=29/C=8295;T=1/C=3955;T=30/C=12250	lod=241:555	-	-	-	het	9
12	16	30715462	C	T	ENST00000395059	ENSG00000080603	30709530	30755602	ENSP00000378499	SRCAP	1	SRCAP_HUMAN	c.132C>T	p.G44G	syn	rs149628651	0.0044	T=29/C=8295;T=1/C=3955;T=30/C=12250	lod=241:555	-	-	-	het	9
13	16	30715462	C	T	ENST00000411466	ENSG00000080603	30709530	30755602	ENSP00000405186	SRCAP	1	-	c.132C>T	p.G44G	syn	rs149628651	0.0044	T=29/C=8295;T=1/C=3955;T=30/C=12250	lod=241:555	-	-	-	het	9
14	16	30715519	C	G	ENST00000262518	ENSG00000080603	30709530	30755602	ENSP00000262518	SRCAP	1	SRCAP_HUMAN	c.189C>G	p.P63P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	hom	1
15	16	30715519	C	G	ENST00000262518	ENSG00000080603	30709530	30755602	ENSP00000262518	SRCAP	1	SRCAP_HUMAN	c.189C>G	p.P63P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	het	34
16	16	30715519	C	G	ENST00000344771	ENSG00000080603	30709530	30755602	ENSP00000343042	SRCAP	1	SRCAP_HUMAN	c.189C>G	p.P63P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	hom	1
17	16	30715519	C	G	ENST00000344771	ENSG00000080603	30709530	30755602	ENSP00000343042	SRCAP	1	SRCAP_HUMAN	c.189C>G	p.P63P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	het	34
18	16	30715519	C	G	ENST00000380361	ENSG00000080603	30709530	30755602	ENSP00000369719	SRCAP	1	SRCAP_HUMAN	c.132C>G	p.P44P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	hom	1
19	16	30715519	C	G	ENST00000380361	ENSG00000080603	30709530	30755602	ENSP00000369719	SRCAP	1	SRCAP_HUMAN	c.132C>G	p.P44P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	het	34
20	16	30715519	C	G	ENST00000395059	ENSG00000080603	30709530	30755602	ENSP00000378499	SRCAP	1	SRCAP_HUMAN	c.189C>G	p.P63P	syn	rs79656879	0.0512	G=28/C=8240;G=253/C=3623;G=281/C=11863	lod=241:555	-	-	-	hom	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SRCAP 16:30709530..30755602 region Gbrowse