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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 PLOD1:

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
ENSG00000083444	PLOD1	0	0	13	ENSG00000083444	ENST00000485046		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 [Source:HGNC Symbol;Acc:9081]	1	11994262	12035595	1	p36.22	11994262	12018677	PLOD1	PLOD1-004	HGNC Symbol	HGNC transcript name	10	53.54	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	5351	9081	PLOD1		27511

MSeqDR Master Exome Data Set M1: 300 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	1	11994760	G	A	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	-	-	5'_UTR	rs144465849	0.0154	-	-	-	-	-	het	5
2	1	11994783	T	C	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	-	-	5'_UTR	NA	-	-	lod=25:313	-	-	-	het	2
3	1	11994791	C	G	ENST00000358133	ENSG00000083444	11994262	12035595	-	PLOD1	1	-	c.1C>G	p.P1A	non-syn	NA	-	-	-	-	-	-	het	1
4	1	11994791	C	G	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	1	11994829	C	T	ENST00000196061	ENSG00000083444	11994262	12035595	ENSP00000196061	PLOD1	1	PLOD1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	1	11994829	C	T	ENST00000358133	ENSG00000083444	11994262	12035595	-	PLOD1	1	-	c.39C>T	p.Y13Y	syn	NA	-	-	-	-	-	-	het	1
7	1	11994829	C	T	ENST00000376369	ENSG00000083444	11994262	12035595	ENSP00000365548	PLOD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	1	11994829	C	T	ENST00000429000	ENSG00000083444	11994262	12035595	ENSP00000405372	PLOD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	1	11994829	C	T	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	1	11994908	G	-GA	ENST00000196061	ENSG00000083444	11994262	12035595	ENSP00000196061	PLOD1	1	PLOD1_HUMAN	c.73_74del	p.E25NA	non-syn	NA	-	-	lod=40:363	-	-	-	het	1
11	1	11994908	G	-GA	ENST00000358133	ENSG00000083444	11994262	12035595	-	PLOD1	1	-	c.119_120del	p.G40NA	non-syn	NA	-	-	lod=40:363	-	-	-	het	1
12	1	11994908	G	-GA	ENST00000376369	ENSG00000083444	11994262	12035595	ENSP00000365548	PLOD1	1	-	c.73_74del	p.E25NA	non-syn	NA	-	-	lod=40:363	-	-	-	het	1
13	1	11994908	G	-GA	ENST00000429000	ENSG00000083444	11994262	12035595	ENSP00000405372	PLOD1	1	-	c.73_74del	p.E25NA	non-syn	NA	-	-	lod=40:363	-	-	-	het	1
14	1	11994908	G	-GA	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	c.73_74del	p.E25NA	non-syn	NA	-	-	lod=40:363	-	-	-	het	1
15	1	12004560	C	T	ENST00000376369	ENSG00000083444	11994262	12035595	ENSP00000365548	PLOD1	1	-	-	-	-19bp 3'_splice_site	NA	-	-	lod=45:376	-	-	-	het	2
16	1	12004560	C	T	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	-	-	-19bp 3'_splice_site	NA	-	-	lod=45:376	-	-	-	het	2
17	1	12004626	C	T	ENST00000376369	ENSG00000083444	11994262	12035595	ENSP00000365548	PLOD1	1	-	c.124C>T	p.H42Y	non-syn	rs75220940	0.0345	T=7/C=3975;T=126/C=1626;T=133/C=5601	-	DAMAGING	-	-	het	8
18	1	12004626	C	T	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	c.124C>T	p.H42Y	non-syn	rs75220940	0.0345	T=7/C=3975;T=126/C=1626;T=133/C=5601	-	DAMAGING	-	-	het	8
19	1	12004647	G	A	ENST00000376369	ENSG00000083444	11994262	12035595	ENSP00000365548	PLOD1	1	-	c.145G>A	p.V49I	non-syn	NA	-	-	-	TOLERATED	-	-	het	2
20	1	12004647	G	A	ENST00000449038	ENSG00000083444	11994262	12035595	ENSP00000414443	PLOD1	1	-	c.145G>A	p.V49I	non-syn	NA	-	-	-	TOLERATED	-	-	het	2

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Transcripts and variants in the surrounding PLOD1 1:11994262..12035595 region Gbrowse