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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 AP1S1:

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
ENSG00000106367	AP1S1	0	0	0	ENSG00000106367	ENST00000337619	ENSP00000336666	adaptor-related protein complex 1, sigma 1 subunit [Source:HGNC Symbol;Acc:559]	7	100797678	100804877	1	q22.1	100797678	100804558	AP1S1	AP1S1-001	HGNC Symbol	HGNC transcript name	3	54.82	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1174	559	AP1S1	NM_001283	27506

MSeqDR Master Exome Data Set M1: 41 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	7	100797681	G	A	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	-	-	5'_UTR	NA	-	-	lod=18:278	-	-	-	het	2
2	7	100797744	G	A	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	7	100797745	A	G	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	7	100799962	A	+TGG	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	c.91_92insTGG	p.M31NA	non-syn	NA	-	-	lod=126:486	-	-	-	het	2
5	7	100799962	A	+TGG	ENST00000429457	ENSG00000106367	100797678	100804877	ENSP00000399902	AP1S1	1	-	c.216_217insTGG	p.W73NA	non-syn	NA	-	-	lod=126:486	-	-	-	het	2
6	7	100799962	A	+TGG	ENST00000443943	ENSG00000106367	100797678	100804877	ENSP00000410780	AP1S1	1	AP1S1_HUMAN	c.91_92insTGG	p.M31NA	non-syn	NA	-	-	lod=126:486	-	-	-	het	2
7	7	100799970	C	T	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	c.99C>T	p.R33R	syn	rs77387752	0.0391	T=26/C=8354;T=4/C=4082;T=30/C=12436	lod=126:486	-	-	-	het	15
8	7	100799970	C	T	ENST00000429457	ENSG00000106367	100797678	100804877	ENSP00000399902	AP1S1	1	-	c.224C>T	p.A75V	non-syn	rs77387752	0.0391	T=26/C=8354;T=4/C=4082;T=30/C=12436	lod=126:486	-	-	-	het	15
9	7	100799970	C	T	ENST00000443943	ENSG00000106367	100797678	100804877	ENSP00000410780	AP1S1	1	AP1S1_HUMAN	c.99C>T	p.R33R	syn	rs77387752	0.0391	T=26/C=8354;T=4/C=4082;T=30/C=12436	lod=126:486	-	-	-	het	15
10	7	100799988	C	G	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	c.117C>G	p.V39V	syn	rs148305541	0.0054	G=53/C=8319;G=6/C=4084;G=59/C=12403	lod=423:615	-	-	-	het	19
11	7	100799988	C	G	ENST00000429457	ENSG00000106367	100797678	100804877	ENSP00000399902	AP1S1	1	-	c.242C>G	p.S81C	non-syn	rs148305541	0.0054	G=53/C=8319;G=6/C=4084;G=59/C=12403	lod=423:615	-	-	-	het	19
12	7	100799988	C	G	ENST00000443943	ENSG00000106367	100797678	100804877	ENSP00000410780	AP1S1	1	AP1S1_HUMAN	c.117C>G	p.V39V	syn	rs148305541	0.0054	G=53/C=8319;G=6/C=4084;G=59/C=12403	lod=423:615	-	-	-	het	19
13	7	100800653	C	T	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	-	-	-5bp 3'_splice_site	NA	-	T=0/C=8424;T=1/C=4155;T=1/C=12579	-	-	-	-	het	3
14	7	100800653	C	T	ENST00000429457	ENSG00000106367	100797678	100804877	ENSP00000399902	AP1S1	1	-	-	-	-5bp 3'_splice_site	NA	-	T=0/C=8424;T=1/C=4155;T=1/C=12579	-	-	-	-	het	3
15	7	100800653	C	T	ENST00000443943	ENSG00000106367	100797678	100804877	ENSP00000410780	AP1S1	1	AP1S1_HUMAN	-	-	-5bp 3'_splice_site	NA	-	T=0/C=8424;T=1/C=4155;T=1/C=12579	-	-	-	-	het	3
16	7	100802411	G	T	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	c.363G>T	p.G121G	syn	rs142485973	0.00098	T=2/G=8386;T=1/G=4129;T=3/G=12515	lod=134:493	-	-	-	het	1
17	7	100802411	G	T	ENST00000429457	ENSG00000106367	100797678	100804877	ENSP00000399902	AP1S1	1	-	c.488G>T	p.G163V	non-syn	rs142485973	0.00098	T=2/G=8386;T=1/G=4129;T=3/G=12515	lod=134:493	-	-	-	het	1
18	7	100802411	G	T	ENST00000443943	ENSG00000106367	100797678	100804877	ENSP00000410780	AP1S1	1	AP1S1_HUMAN	c.363G>T	p.G121G	syn	rs142485973	0.00098	T=2/G=8386;T=1/G=4129;T=3/G=12515	lod=134:493	-	-	-	het	1
19	7	100803900	G	T	ENST00000337619	ENSG00000106367	100797678	100804877	ENSP00000336666	AP1S1	1	AP1S1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	7	100803900	G	T	ENST00000443943	ENSG00000106367	100797678	100804877	ENSP00000410780	AP1S1	1	AP1S1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding AP1S1 7:100797678..100804877 region Gbrowse