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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 GP1BA:

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
ENSG00000185245	GP1BA	0	0	7	ENSG00000185245	ENST00000329125	ENSP00000329380	glycoprotein Ib (platelet), alpha polypeptide [Source:HGNC Symbol;Acc:4439]	17	4835592	4838325	1	p13.2	4835592	4838325	GP1BA	GP1BA-001	HGNC Symbol	HGNC transcript name	1	55.96	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2811	4439	GP1BA	NM_000173	27509

MSeqDR Master Exome Data Set M1: 41 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	4835895	T	C	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	-	-	5'_UTR	rs2243093	0.2319	C=1066/T=7326;C=826/T=3404;C=1892/T=10730	lod=83:441	-	-	Myocardial infarction, association with	hom	12
2	17	4835895	T	C	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	-	-	5'_UTR	rs2243093	0.2319	C=1066/T=7326;C=826/T=3404;C=1892/T=10730	lod=83:441	-	-	Myocardial infarction, association with	het	172
3	17	4835991	T	C	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.92T>C	p.V31A	non-syn	rs201827537	-	C=8/T=8526;C=0/T=4328;C=8/T=12854	lod=30:333	DAMAGING	-	-	het	5
4	17	4836005	A	G	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.106A>G	p.R36G	non-syn	rs111292798	0.0079	G=3/A=8551;G=66/A=4280;G=69/A=12831	-	DAMAGING	-	-	het	1
5	17	4836105	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.206C>T	p.P69L	non-syn	rs138825640	0.00389	T=28/C=8522;T=2/C=4352;T=30/C=12874	-	DAMAGING	-	-	het	3
6	17	4836114	G	A	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.215G>A	p.R72H	non-syn	rs6068	0.0356	A=0/G=8524;A=80/G=4234;A=80/G=12758	-	TOLERATED	-	-	het	1
7	17	4836256	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.357C>T	p.T119T	syn	NA	-	T=5/C=8509;T=2/C=4304;T=7/C=12813	-	-	-	-	het	2
8	17	4836381	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.482C>T	p.T161M	non-syn	rs6065	0.2242	T=663/C=7663;T=856/C=3152;T=1519/C=10815	-	TOLERATED	-	VWF binding, association with	hom	14
9	17	4836381	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.482C>T	p.T161M	non-syn	rs6065	0.2242	T=663/C=7663;T=856/C=3152;T=1519/C=10815	-	TOLERATED	-	VWF binding, association with	het	162
10	17	4836382	G	A	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.483G>A	p.T161T	syn	rs2243094	0.006	A=0/G=8312;A=61/G=3927;A=61/G=12239	-	-	-	-	het	1
11	17	4836520	T	C	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.621T>C	p.F207F	syn	NA	-	-	lod=39:361	-	-	-	het	1
12	17	4836631	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.732C>T	p.Y244Y	syn	rs200381725	-	T=20/C=8434;T=1/C=4133;T=21/C=12567	-	-	-	-	het	4
13	17	4836649	G	A	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.750G>A	p.V250V	syn	NA	-	-	-	-	-	-	het	1
14	17	4836673	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.774C>T	p.N258N	syn	rs6066	0.03113	T=283/C=8165;T=24/C=4164;T=307/C=12329	-	-	-	-	het	50
15	17	4836804	G	A	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.905G>A	p.G302D	non-syn	rs185903059	0.003	A=0/G=8334;A=9/G=3981;A=9/G=12315	-	DAMAGING	-	-	het	1
16	17	4836829	T	C	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.930T>C	p.T310T	syn	rs181987848	0.0015	C=0/T=8330;C=7/T=3979;C=7/T=12309	-	-	-	-	het	1
17	17	4836973	A	G	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.1074A>G	p.R358R	syn	rs6067	0.1606	G=315/A=8021;G=108/A=3808;G=423/A=11829	-	-	-	-	het	70
18	17	4836973	A	G	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.1074A>G	p.R358R	syn	rs6067	0.1606	G=315/A=8021;G=108/A=3808;G=423/A=11829	-	-	-	-	hom	4
19	17	4837070	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.1171C>T	p.P391S	non-syn	rs147455264	0.0294	T=1/C=8241;T=75/C=3781;T=76/C=12022	-	DAMAGING	-	-	het	5
20	17	4837131	C	T	ENST00000329125	ENSG00000185245	4835592	4838325	ENSP00000329380	GP1BA	1	GP1BA_HUMAN	c.1232C>T	p.P411L	non-syn	rs139921368	0.0019	T=4/C=8150;T=0/C=3656;T=4/C=11806	-	DAMAGING	-	-	het	5

** 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 GP1BA 17:4835592..4838325 region Gbrowse