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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 PTRF:

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
ENSG00000177469	PTRF	0	0	8	ENSG00000177469	ENST00000357037	ENSP00000349541	polymerase I and transcript release factor [Source:HGNC Symbol;Acc:9688]	17	40554470	40575535	-1	q21.2	40554470	40575535	PTRF	PTRF-001	HGNC Symbol	HGNC transcript name	1	52.7	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	284119	9688	PTRF	NM_012232	27509

MSeqDR Master Exome Data Set M1: 22 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	17	40555114	A	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs4796582	0.91155	-	-	-	-	-	hom	1
2	17	40555259	C	G	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs4796583	0.0606	-	-	-	-	-	het	1
3	17	40555595	G	A	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	17	40555799	C	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs1129422	0.2245	-	-	-	-	-	het	1
5	17	40555890	T	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs6416922	0.9073	-	-	-	-	-	hom	3
6	17	40555939	A	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs709631	0.6802	-	-	-	-	-	hom	4
7	17	40555939	A	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs709631	0.6802	-	-	-	-	-	het	5
8	17	40556247	G	A	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs6416923	0.9098	-	-	-	-	-	het	1
9	17	40556515	T	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs7207285	0.9231	-	-	-	-	-	het	35
10	17	40556515	T	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs7207285	0.9231	-	-	-	-	-	hom	179
11	17	40556633	C	+GAGCCGAGA	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	-	-	3'_UTR	rs3833143	-	-	-	-	-	-	het	6
12	17	40556951	C	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.927G>A	p.A309A	syn	rs112332573	0.0568	T=5/C=8595;T=259/C=4147;T=264/C=12742	lod=321:586	-	-	-	het	4
13	17	40556955	T	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.923A>G	p.Y308C	non-syn	rs146799286	-	C=21/T=8579;C=3/T=4403;C=24/T=12982	lod=321:586	TOLERATED	D	-	het	5
14	17	40557035	C	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.843G>A	p.L281L	syn	rs35648297	0.0436	T=24/C=8576;T=189/C=4217;T=213/C=12793	lod=413:613	-	-	-	het	14
15	17	40557319	C	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.559G>A	p.G187S	non-syn	NA	-	-	lod=51:389	TOLERATED	B	-	het	1
16	17	40557323	C	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.555G>A	p.E185E	syn	NA	-	-	lod=51:389	-	-	-	het	1
17	17	40557338	C	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.540G>A	p.E180E	syn	rs143511306	-	T=10/C=8590;T=3/C=4403;T=13/C=12993	lod=48:383	-	-	-	het	1
18	17	40574760	A	T	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.356T>A	p.V119D	non-syn	rs146547678	0.0013	T=34/A=8566;T=1/A=4405;T=35/A=12971	lod=360:598	TOLERATED	P	-	het	13
19	17	40574874	T	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.242A>G	p.E81G	non-syn	NA	-	-	lod=896:696	DAMAGING	D	-	het	2
20	17	40574877	G	C	ENST00000357037	ENSG00000177469	40554470	40575535	ENSP00000349541	PTRF	-1	PTRF_HUMAN	c.239C>G	p.A80G	non-syn	rs78526907	-	-	lod=896:696	TOLERATED	B	-	het	3

** 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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Transcripts and variants in the surrounding PTRF 17:40554470..40575535 region Gbrowse