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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 PLEC:

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
ENSG00000178209	PLEC	0	0	292	ENSG00000178209	ENST00000345136	ENSP00000344848	plectin [Source:HGNC Symbol;Acc:9069]	8	144989321	145050902	-1	q24.3	144989321	145013758	PLEC	PLEC-004	HGNC Symbol	HGNC transcript name	15	63.62	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5339	9069	PLEC	NM_201384	27523
ENSG00000261109	PLEC	0	0	292	ENSG00000261109	ENST00000568193	ENSP00000455828	plectin [Source:HGNC Symbol;Acc:9069]	HG104_HG975_PATCH	144997317	145058904	-1	q24.3	144997317	145033046	PLEC	PLEC-001	HGNC Symbol	HGNC transcript name	15	63.62	protein_coding	protein_coding	havana	havana	KNOWN	KNOWN	5339	9069	PLEC		1000057001

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MSeqDR Master Exome Data Set M1: 3910 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	8	144989390	C	T	ENST00000322810	ENSG00000178209	144989321	145050902	ENSP00000323856	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
2	8	144989390	C	T	ENST00000345136	ENSG00000178209	144989321	145050902	ENSP00000344848	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
3	8	144989390	C	T	ENST00000354589	ENSG00000178209	144989321	145050902	ENSP00000346602	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
4	8	144989390	C	T	ENST00000354958	ENSG00000178209	144989321	145050902	ENSP00000347044	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
5	8	144989390	C	T	ENST00000356346	ENSG00000178209	144989321	145050902	ENSP00000348702	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
6	8	144989390	C	T	ENST00000357649	ENSG00000178209	144989321	145050902	ENSP00000350277	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
7	8	144989390	C	T	ENST00000398774	ENSG00000178209	144989321	145050902	ENSP00000381756	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
8	8	144989390	C	T	ENST00000436759	ENSG00000178209	144989321	145050902	ENSP00000388180	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs138209950	0.0052	-	lod=64:414	-	-	-	het	1
9	8	144989452	T	C	ENST00000322810	ENSG00000178209	144989321	145050902	ENSP00000323856	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
10	8	144989452	T	C	ENST00000345136	ENSG00000178209	144989321	145050902	ENSP00000344848	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
11	8	144989452	T	C	ENST00000354589	ENSG00000178209	144989321	145050902	ENSP00000346602	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
12	8	144989452	T	C	ENST00000354958	ENSG00000178209	144989321	145050902	ENSP00000347044	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
13	8	144989452	T	C	ENST00000356346	ENSG00000178209	144989321	145050902	ENSP00000348702	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
14	8	144989452	T	C	ENST00000357649	ENSG00000178209	144989321	145050902	ENSP00000350277	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
15	8	144989452	T	C	ENST00000398774	ENSG00000178209	144989321	145050902	ENSP00000381756	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
16	8	144989452	T	C	ENST00000436759	ENSG00000178209	144989321	145050902	ENSP00000388180	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs189205952	0.0019	-	lod=84:443	-	-	-	het	4
17	8	144989462	A	G	ENST00000322810	ENSG00000178209	144989321	145050902	ENSP00000323856	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs7155	0.6693	-	lod=84:443	-	-	-	hom	112
18	8	144989462	A	G	ENST00000322810	ENSG00000178209	144989321	145050902	ENSP00000323856	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs7155	0.6693	-	lod=84:443	-	-	-	het	314
19	8	144989462	A	G	ENST00000345136	ENSG00000178209	144989321	145050902	ENSP00000344848	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs7155	0.6693	-	lod=84:443	-	-	-	hom	112
20	8	144989462	A	G	ENST00000345136	ENSG00000178209	144989321	145050902	ENSP00000344848	PLEC	-1	PLEC_HUMAN	-	-	3'_UTR	rs7155	0.6693	-	lod=84:443	-	-	-	het	314

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding PLEC 8:144989321..145050902 region Gbrowse