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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 PLG:

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
ENSG00000122194	PLG	0	0	10	ENSG00000122194	ENST00000366924	ENSP00000355891	plasminogen [Source:HGNC Symbol;Acc:9071]	6	161123270	161174347	1	q26	161123270	161132915	PLG	PLG-002	HGNC Symbol	HGNC transcript name	12	40.43	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	5340	9071	PLG	NM_001168338	27515

MSeqDR Master Exome Data Set M1: 240 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	6	161123289	A	G	ENST00000308192	ENSG00000122194	161123270	161174347	ENSP00000308938	PLG	1	PLMN_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	6	161123289	A	G	ENST00000366924	ENSG00000122194	161123270	161174347	ENSP00000355891	PLG	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	6	161123289	A	G	ENST00000418964	ENSG00000122194	161123270	161174347	ENSP00000389424	PLG	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	6	161123302	G	A	ENST00000297289	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.11G>A	p.G4E	non-syn	rs4252060	0.0697	A=42/G=7984;A=332/G=3874;A=374/G=11858	-	-	-	-	het	3
5	6	161123302	G	A	ENST00000308192	ENSG00000122194	161123270	161174347	ENSP00000308938	PLG	1	PLMN_HUMAN	-	-	5'_UTR	rs4252060	0.0697	A=42/G=7984;A=332/G=3874;A=374/G=11858	-	-	-	-	het	3
6	6	161123302	G	A	ENST00000366924	ENSG00000122194	161123270	161174347	ENSP00000355891	PLG	1	-	-	-	5'_UTR	rs4252060	0.0697	A=42/G=7984;A=332/G=3874;A=374/G=11858	-	-	-	-	het	3
7	6	161123302	G	A	ENST00000418964	ENSG00000122194	161123270	161174347	ENSP00000389424	PLG	1	-	-	-	5'_UTR	rs4252060	0.0697	A=42/G=7984;A=332/G=3874;A=374/G=11858	-	-	-	-	het	3
8	6	161123302	G	A	ENST00000462918	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.3G>A	p.G1G	syn	rs4252060	0.0697	A=42/G=7984;A=332/G=3874;A=374/G=11858	-	-	-	-	het	3
9	6	161127125	G	A	ENST00000484367	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.706G>A	p.V236I	non-syn	rs4252066	0.24176	-	-	-	-	-	hom	1
10	6	161127326	C	-A	ENST00000484367	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.908_908del	p.Q303NA	non-syn	NA	-	-	-	-	-	-	het	1
11	6	161127326	C	-AG	ENST00000484367	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.908_909del	p.Q303NA	non-syn	rs4252069	-	-	-	-	-	-	het	111
12	6	161127326	C	-AG	ENST00000484367	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.908_909del	p.Q303NA	non-syn	rs4252069	-	-	-	-	-	-	hom	15
13	6	161127423	G	A	ENST00000308192	ENSG00000122194	161123270	161174347	ENSP00000308938	PLG	1	PLMN_HUMAN	-	-	-16bp 3'_splice_site	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
14	6	161127423	G	A	ENST00000366924	ENSG00000122194	161123270	161174347	ENSP00000355891	PLG	1	-	-	-	-16bp 3'_splice_site	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
15	6	161127423	G	A	ENST00000418964	ENSG00000122194	161123270	161174347	ENSP00000389424	PLG	1	-	-	-	-16bp 3'_splice_site	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
16	6	161127423	G	A	ENST00000462918	ENSG00000122194	161123270	161174347	-	PLG	1	-	-	-	-16bp 3'_splice_site	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
17	6	161127423	G	A	ENST00000471691	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.17G>A	p.G6E	non-syn	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
18	6	161127423	G	A	ENST00000483038	ENSG00000122194	161123270	161174347	-	PLG	1	-	-	-	-16bp 3'_splice_site	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
19	6	161127423	G	A	ENST00000484367	ENSG00000122194	161123270	161174347	-	PLG	1	-	c.1004G>A	p.G335E	non-syn	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	het	1
20	6	161127423	G	A	ENST00000494325	ENSG00000122194	161123270	161174347	-	PLG	1	-	-	-	-16bp 3'_splice_site	rs139837651	0.00389	A=13/G=8587;A=0/G=4406;A=13/G=12993	-	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding PLG 6:161123270..161174347 region Gbrowse