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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 PTDSS1:

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
ENSG00000156471	PTDSS1	0	0	3	ENSG00000156471	ENST00000517309	ENSP00000430548	phosphatidylserine synthase 1 [Source:HGNC Symbol;Acc:9587]	8	97273943	97349223	1	q22.1	97273943	97349223	PTDSS1	PTDSS1-001	HGNC Symbol	HGNC transcript name	7	43.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9791	9587	PTDSS1	NM_014754	27523

MSeqDR Master Exome Data Set M1: 168 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	97273978	A	C	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs34723296	0.0603	-	-	-	-	-	het	115
2	8	97273978	A	C	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs34723296	0.0603	-	-	-	-	-	hom	5
3	8	97273987	A	G	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs13265997	0.059	-	-	-	-	-	het	114
4	8	97273987	A	G	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs13265997	0.059	-	-	-	-	-	hom	5
5	8	97274016	C	T	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs193273062	0.002	-	-	-	-	-	het	2
6	8	97274078	G	A	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs185416928	0.0107	-	-	-	-	-	het	22
7	8	97274078	G	A	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs185416928	0.0107	-	-	-	-	-	hom	1
8	8	97274226	G	T	ENST00000337004	ENSG00000156471	97273943	97349223	ENSP00000337331	PTDSS1	1	-	-	-	5'_UTR	rs200050969	-	T=1/G=8505;T=17/G=4363;T=18/G=12868	lod=64:414	-	-	-	het	2
9	8	97274226	G	T	ENST00000455950	ENSG00000156471	97273943	97349223	ENSP00000401248	PTDSS1	1	-	-	-	5'_UTR	rs200050969	-	T=1/G=8505;T=17/G=4363;T=18/G=12868	lod=64:414	-	-	-	het	2
10	8	97274226	G	T	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	-	-	5'_UTR	rs200050969	-	T=1/G=8505;T=17/G=4363;T=18/G=12868	lod=64:414	-	-	-	het	2
11	8	97274226	G	T	ENST00000517557	ENSG00000156471	97273943	97349223	-	PTDSS1	1	-	c.32G>T	p.R11L	non-syn	rs200050969	-	T=1/G=8505;T=17/G=4363;T=18/G=12868	lod=64:414	-	-	-	het	2
12	8	97274424	C	T	ENST00000337004	ENSG00000156471	97273943	97349223	ENSP00000337331	PTDSS1	1	-	c.156C>T	p.S52S	syn	NA	-	-	lod=987:706	-	-	-	het	2
13	8	97274424	C	T	ENST00000455950	ENSG00000156471	97273943	97349223	ENSP00000401248	PTDSS1	1	-	-	-	5'_UTR	NA	-	-	lod=987:706	-	-	-	het	2
14	8	97274424	C	T	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	c.156C>T	p.S52S	syn	NA	-	-	lod=987:706	-	-	-	het	2
15	8	97274424	C	T	ENST00000517557	ENSG00000156471	97273943	97349223	-	PTDSS1	1	-	c.230C>T	p.A77V	non-syn	NA	-	-	lod=987:706	-	-	-	het	2
16	8	97285617	T	C	ENST00000337004	ENSG00000156471	97273943	97349223	ENSP00000337331	PTDSS1	1	-	c.270T>C	p.N90N	syn	rs11991068	0.0308	C=0/T=8600;C=147/T=4259;C=147/T=12859	lod=170:518	-	-	-	het	5
17	8	97285617	T	C	ENST00000455950	ENSG00000156471	97273943	97349223	ENSP00000401248	PTDSS1	1	-	c.2T>C	p.M1T	non-syn	rs11991068	0.0308	C=0/T=8600;C=147/T=4259;C=147/T=12859	lod=170:518	-	-	-	het	5
18	8	97285617	T	C	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	c.270T>C	p.N90N	syn	rs11991068	0.0308	C=0/T=8600;C=147/T=4259;C=147/T=12859	lod=170:518	-	-	-	het	5
19	8	97285617	T	C	ENST00000517557	ENSG00000156471	97273943	97349223	-	PTDSS1	1	-	c.344T>C	p.M115T	non-syn	rs11991068	0.0308	C=0/T=8600;C=147/T=4259;C=147/T=12859	lod=170:518	-	-	-	het	5
20	8	97299350	C	T	ENST00000517309	ENSG00000156471	97273943	97349223	ENSP00000430548	PTDSS1	1	PTSS1_HUMAN	c.417C>T	p.Y139Y	syn	rs73698560	0.0056	T=4/C=8596;T=37/C=4369;T=41/C=12965	lod=197:534	-	-	-	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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Transcripts and variants in the surrounding PTDSS1 8:97273943..97349223 region Gbrowse