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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 F5:

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
ENSG00000198734	F5	0	0	14	ENSG00000198734	ENST00000495481		coagulation factor V (proaccelerin, labile factor) [Source:HGNC Symbol;Acc:3542]	1	169483404	169555826	-1	q24.2	169483404	169484983	F5	F5-003	HGNC Symbol	HGNC transcript name	4	38.1	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	2153	3542	F5		27511

MSeqDR Master Exome Data Set M1: 298 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	169483561	T	C	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	c.6680A>G	p.D2227G	non-syn	rs6027	0.07429	C=531/T=8069;C=42/T=4364;C=573/T=12433	lod=222:547	DAMAGING	D	-	het	146
2	1	169483561	T	C	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	c.6680A>G	p.D2227G	non-syn	rs6027	0.07429	C=531/T=8069;C=42/T=4364;C=573/T=12433	lod=222:547	DAMAGING	D	-	hom	15
3	1	169483561	T	C	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	c.6665A>G	p.D2222G	non-syn	rs6027	0.07429	C=531/T=8069;C=42/T=4364;C=573/T=12433	lod=222:547	DAMAGING	D	-	het	146
4	1	169483561	T	C	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	c.6665A>G	p.D2222G	non-syn	rs6027	0.07429	C=531/T=8069;C=42/T=4364;C=573/T=12433	lod=222:547	DAMAGING	D	-	hom	15
5	1	169483561	T	C	ENST00000495481	ENSG00000198734	169483404	169555826	-	F5	-1	-	c.439A>G	p.I147V	non-syn	rs6027	0.07429	C=531/T=8069;C=42/T=4364;C=573/T=12433	lod=222:547	DAMAGING	D	-	het	146
6	1	169483561	T	C	ENST00000495481	ENSG00000198734	169483404	169555826	-	F5	-1	-	c.439A>G	p.I147V	non-syn	rs6027	0.07429	C=531/T=8069;C=42/T=4364;C=573/T=12433	lod=222:547	DAMAGING	D	-	hom	15
7	1	169483637	T	C	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	c.6604A>G	p.I2202V	non-syn	NA	-	C=0/T=8600;C=1/T=4405;C=1/T=13005	lod=141:498	TOLERATED	P	-	het	1
8	1	169483637	T	C	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	c.6589A>G	p.I2197V	non-syn	NA	-	C=0/T=8600;C=1/T=4405;C=1/T=13005	lod=141:498	TOLERATED	P	-	het	1
9	1	169483637	T	C	ENST00000495481	ENSG00000198734	169483404	169555826	-	F5	-1	-	c.363A>G	p.S121S	syn	NA	-	C=0/T=8600;C=1/T=4405;C=1/T=13005	lod=141:498	TOLERATED	P	-	het	1
10	1	169484767	A	G	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	c.6458T>C	p.M2153T	non-syn	rs9332701	0.01866	G=384/A=8216;G=46/A=4360;G=430/A=12576	lod=110:472	DAMAGING	D	-	het	73
11	1	169484767	A	G	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	c.6443T>C	p.M2148T	non-syn	rs9332701	0.01866	G=384/A=8216;G=46/A=4360;G=430/A=12576	lod=110:472	DAMAGING	D	-	het	73
12	1	169484767	A	G	ENST00000495481	ENSG00000198734	169483404	169555826	-	F5	-1	-	c.217T>C	p.C73R	non-syn	rs9332701	0.01866	G=384/A=8216;G=46/A=4360;G=430/A=12576	lod=110:472	DAMAGING	D	-	het	73
13	1	169484900	T	G	ENST00000495481	ENSG00000198734	169483404	169555826	-	F5	-1	-	c.84A>C	p.T28T	syn	rs9332670	0.0141	G=1/T=8597;G=132/T=4274;G=133/T=12871	-	-	-	-	het	1
14	1	169487686	C	T	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	c.6324G>A	p.L2108L	syn	rs35369423	-	T=37/C=8563;T=1/C=4405;T=38/C=12968	lod=192:531	-	-	-	het	3
15	1	169487686	C	T	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	c.6309G>A	p.L2103L	syn	rs35369423	-	T=37/C=8563;T=1/C=4405;T=38/C=12968	lod=192:531	-	-	-	het	3
16	1	169487821	G	T	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	-	-	-20bp 3'_splice_site	rs6013	0.0731	T=533/G=8067;T=64/G=4342;T=597/G=12409	-	-	-	-	het	121
17	1	169487821	G	T	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	-	-	-20bp 3'_splice_site	rs6013	0.0731	T=533/G=8067;T=64/G=4342;T=597/G=12409	-	-	-	-	hom	13
18	1	169487821	G	T	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	-	-	-20bp 3'_splice_site	rs6013	0.0731	T=533/G=8067;T=64/G=4342;T=597/G=12409	-	-	-	-	het	121
19	1	169487821	G	T	ENST00000367797	ENSG00000198734	169483404	169555826	ENSP00000356771	F5	-1	FA5_HUMAN	-	-	-20bp 3'_splice_site	rs6013	0.0731	T=533/G=8067;T=64/G=4342;T=597/G=12409	-	-	-	-	hom	13
20	1	169489743	A	G	ENST00000367796	ENSG00000198734	169483404	169555826	ENSP00000356770	F5	-1	FA5_HUMAN	-	-	+15bp 5'_splice_site	rs182046835	0.0009	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding F5 1:169483404..169555826 region Gbrowse