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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 BAG3:

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
ENSG00000151929	BAG3	1	6	103	ENSG00000151929	ENST00000369085	ENSP00000358081	BCL2-associated athanogene 3 [Source:HGNC Symbol;Acc:939]	10	121410882	121437331	1	q26.11	121410882	121437331	BAG3	BAG3-001	HGNC Symbol	HGNC transcript name	2	49.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9531	939	BAG3	NM_004281	27525

MSeqDR Master Exome Data Set M1: 66 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	10	121410903	C	T	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	14
2	10	121410904	G	C	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	rs192502283	0.0193	-	-	-	-	-	het	31
3	10	121410917	C	T	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	rs144814361	0.01	-	lod=417:614	-	-	-	het	9
4	10	121411019	C	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	NA	-	-	lod=417:614	-	-	-	het	1
5	10	121411093	G	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	rs111750619	-	-	lod=417:614	-	-	-	het	3
6	10	121411120	G	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	10	121411128	A	+C	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	10	121411171	G	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	-	-	5'_UTR	rs200388926	-	A=32/G=8510;A=1/G=4349;A=33/G=12859	-	-	-	-	het	3
9	10	121411212	A	G	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.25A>G	p.M9V	non-syn	rs137965903	-	G=0/A=8586;G=18/A=4384;G=18/A=12970	-	TOLERATED	NA	-	het	1
10	10	121429369	C	G	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.187C>G	p.P63A	non-syn	rs144041999	0.006	G=1/C=8599;G=48/C=4358;G=49/C=12957	-	TOLERATED	NA	-	het	1
11	10	121429369	C	G	ENST00000450186	ENSG00000151929	121410882	121437331	ENSP00000410036	BAG3	1	-	c.13C>G	p.P5A	non-syn	rs144041999	0.006	G=1/C=8599;G=48/C=4358;G=49/C=12957	-	TOLERATED	NA	-	het	1
12	10	121429394	G	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.212G>A	p.R71Q	non-syn	rs35434411	0.0147	A=280/G=8320;A=19/G=4387;A=299/G=12707	-	TOLERATED	NA	-	het	34
13	10	121429394	G	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.212G>A	p.R71Q	non-syn	rs35434411	0.0147	A=280/G=8320;A=19/G=4387;A=299/G=12707	-	TOLERATED	NA	-	hom	1
14	10	121429394	G	A	ENST00000450186	ENSG00000151929	121410882	121437331	ENSP00000410036	BAG3	1	-	c.38G>A	p.R13Q	non-syn	rs35434411	0.0147	A=280/G=8320;A=19/G=4387;A=299/G=12707	-	TOLERATED	NA	-	het	34
15	10	121429394	G	A	ENST00000450186	ENSG00000151929	121410882	121437331	ENSP00000410036	BAG3	1	-	c.38G>A	p.R13Q	non-syn	rs35434411	0.0147	A=280/G=8320;A=19/G=4387;A=299/G=12707	-	TOLERATED	NA	-	hom	1
16	10	121429413	G	A	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.231G>A	p.P77P	syn	rs143752613	0.0105	A=0/G=8600;A=59/G=4347;A=59/G=12947	-	-	-	-	het	6
17	10	121429413	G	A	ENST00000450186	ENSG00000151929	121410882	121437331	ENSP00000410036	BAG3	1	-	c.57G>A	p.P19P	syn	rs143752613	0.0105	A=0/G=8600;A=59/G=4347;A=59/G=12947	-	-	-	-	het	6
18	10	121429462	A	T	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.280A>T	p.I94F	non-syn	rs145393807	-	T=9/A=8591;T=2/A=4404;T=11/A=12995	lod=187:528	DAMAGING	NA	-	het	2
19	10	121429462	A	T	ENST00000450186	ENSG00000151929	121410882	121437331	ENSP00000410036	BAG3	1	-	c.106A>T	p.I36F	non-syn	rs145393807	-	T=9/A=8591;T=2/A=4404;T=11/A=12995	lod=187:528	DAMAGING	NA	-	het	2
20	10	121429633	T	C	ENST00000369085	ENSG00000151929	121410882	121437331	ENSP00000358081	BAG3	1	BAG3_HUMAN	c.451T>C	p.C151R	non-syn	rs2234962	0.1928	C=1782/T=6814;C=182/T=4218;C=1964/T=11032	lod=63:412	TOLERATED	NA	HGMD	het	287

** 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 BAG3 10:121410882..121437331 region Gbrowse