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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 PLA2G6:

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
ENSG00000184381	PLA2G6	1	4	80	ENSG00000184381	ENST00000498338	ENSP00000472058	phospholipase A2, group VI (cytosolic, calcium-independent) [Source:HGNC Symbol;Acc:9039]	22	38507502	38601697	-1	q13.1	38530995	38539501	PLA2G6	PLA2G6-015	HGNC Symbol	HGNC transcript name	28	51.54	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	8398	9039	PLA2G6		27510

MSeqDR Master Exome Data Set M1: 474 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	22	38507548	C	T	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	22	38507548	C	T	ENST00000335539	ENSG00000184381	38507502	38601697	ENSP00000335149	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	22	38507548	C	T	ENST00000402064	ENSG00000184381	38507502	38601697	ENSP00000386100	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	22	38507579	G	C	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570771	0.0083	-	lod=22:300	-	-	-	het	7
5	22	38507579	G	C	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570771	0.0083	-	lod=22:300	-	-	-	hom	1
6	22	38507579	G	C	ENST00000335539	ENSG00000184381	38507502	38601697	ENSP00000335149	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570771	0.0083	-	lod=22:300	-	-	-	het	7
7	22	38507579	G	C	ENST00000335539	ENSG00000184381	38507502	38601697	ENSP00000335149	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570771	0.0083	-	lod=22:300	-	-	-	hom	1
8	22	38507579	G	C	ENST00000402064	ENSG00000184381	38507502	38601697	ENSP00000386100	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570771	0.0083	-	lod=22:300	-	-	-	het	7
9	22	38507579	G	C	ENST00000402064	ENSG00000184381	38507502	38601697	ENSP00000386100	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570771	0.0083	-	lod=22:300	-	-	-	hom	1
10	22	38507620	G	C	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
11	22	38507620	G	C	ENST00000335539	ENSG00000184381	38507502	38601697	ENSP00000335149	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
12	22	38507620	G	C	ENST00000402064	ENSG00000184381	38507502	38601697	ENSP00000386100	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
13	22	38507632	G	A	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
14	22	38507632	G	A	ENST00000335539	ENSG00000184381	38507502	38601697	ENSP00000335149	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
15	22	38507632	G	A	ENST00000402064	ENSG00000184381	38507502	38601697	ENSP00000386100	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
16	22	38507675	G	C	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs188998877	0.0015	-	-	-	-	-	het	2
17	22	38507675	G	C	ENST00000335539	ENSG00000184381	38507502	38601697	ENSP00000335149	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs188998877	0.0015	-	-	-	-	-	het	2
18	22	38507675	G	C	ENST00000402064	ENSG00000184381	38507502	38601697	ENSP00000386100	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs188998877	0.0015	-	-	-	-	-	het	2
19	22	38507818	G	T	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570770	0.112	-	-	-	-	-	het	114
20	22	38507818	G	T	ENST00000332509	ENSG00000184381	38507502	38601697	ENSP00000333142	PLA2G6	-1	PLPL9_HUMAN	-	-	3'_UTR	rs11570770	0.112	-	-	-	-	-	hom	8

** 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 PLA2G6 22:38507502..38601697 region Gbrowse