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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 UROS:

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
ENSG00000188690	UROS	1	0	23	ENSG00000188690	ENST00000470483		uroporphyrinogen III synthase [Source:HGNC Symbol;Acc:12592]	10	127477146	127511817	-1	q26.2	127477146	127483796	UROS	UROS-009	HGNC Symbol	HGNC transcript name	10	46	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	7390	12592	UROS		27525

MSeqDR Master Exome Data Set M1: 138 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	127477259	C	T	ENST00000368786	ENSG00000188690	127477146	127511817	ENSP00000357775	UROS	-1	HEM4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	10	127477259	C	T	ENST00000368797	ENSG00000188690	127477146	127511817	ENSP00000357787	UROS	-1	HEM4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	10	127477259	C	T	ENST00000465577	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.618G>A	p.T206T	syn	NA	-	-	-	-	-	-	het	2
4	10	127477259	C	T	ENST00000470483	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.664G>A	p.V222M	non-syn	NA	-	-	-	-	-	-	het	2
5	10	127477259	C	T	ENST00000484541	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.749G>A	p.R250H	non-syn	NA	-	-	-	-	-	-	het	2
6	10	127477354	C	T	ENST00000368786	ENSG00000188690	127477146	127511817	ENSP00000357775	UROS	-1	HEM4_HUMAN	-	-	3'_UTR	rs142130255	0.0019	-	-	-	-	-	het	2
7	10	127477354	C	T	ENST00000368797	ENSG00000188690	127477146	127511817	ENSP00000357787	UROS	-1	HEM4_HUMAN	-	-	3'_UTR	rs142130255	0.0019	-	-	-	-	-	het	2
8	10	127477354	C	T	ENST00000464267	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.978G>A	p.S326S	syn	rs142130255	0.0019	-	-	-	-	-	het	2
9	10	127477354	C	T	ENST00000465577	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.523G>A	p.G175R	non-syn	rs142130255	0.0019	-	-	-	-	-	het	2
10	10	127477354	C	T	ENST00000470483	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.569G>A	p.R190Q	non-syn	rs142130255	0.0019	-	-	-	-	-	het	2
11	10	127477354	C	T	ENST00000484541	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.654G>A	p.S218S	syn	rs142130255	0.0019	-	-	-	-	-	het	2
12	10	127477546	C	G	ENST00000368786	ENSG00000188690	127477146	127511817	ENSP00000357775	UROS	-1	HEM4_HUMAN	c.689G>C	p.R230P	non-syn	rs201616690	-	-	-	TOLERATED	D	-	het	7
13	10	127477546	C	G	ENST00000368797	ENSG00000188690	127477146	127511817	ENSP00000357787	UROS	-1	HEM4_HUMAN	c.689G>C	p.R230P	non-syn	rs201616690	-	-	-	TOLERATED	D	-	het	7
14	10	127477546	C	G	ENST00000464267	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.786G>C	p.S262S	syn	rs201616690	-	-	-	TOLERATED	D	-	het	7
15	10	127477546	C	G	ENST00000465577	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.331G>C	p.A111P	non-syn	rs201616690	-	-	-	TOLERATED	D	-	het	7
16	10	127477546	C	G	ENST00000470483	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.377G>C	p.R126P	non-syn	rs201616690	-	-	-	TOLERATED	D	-	het	7
17	10	127477546	C	G	ENST00000484541	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.462G>C	p.S154S	syn	rs201616690	-	-	-	TOLERATED	D	-	het	7
18	10	127477551	C	T	ENST00000368786	ENSG00000188690	127477146	127511817	ENSP00000357775	UROS	-1	HEM4_HUMAN	c.684G>A	p.T228T	syn	NA	-	-	lod=57:401	-	-	-	het	1
19	10	127477551	C	T	ENST00000368797	ENSG00000188690	127477146	127511817	ENSP00000357787	UROS	-1	HEM4_HUMAN	c.684G>A	p.T228T	syn	NA	-	-	lod=57:401	-	-	-	het	1
20	10	127477551	C	T	ENST00000464267	ENSG00000188690	127477146	127511817	-	UROS	-1	-	c.781G>A	p.G261S	non-syn	NA	-	-	lod=57:401	-	-	-	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 UROS 10:127477146..127511817 region Gbrowse