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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 F9:

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
ENSG00000101981	F9	0	0	74	ENSG00000101981	ENST00000479617		coagulation factor IX [Source:HGNC Symbol;Acc:3551]	X	138612917	138645617	1	q27.1	138612917	138630551	F9	F9-002	HGNC Symbol	HGNC transcript name	3	38.93	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	2158	3551	F9		27516

MSeqDR Master Exome Data Set M1: 59 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	X	138612942	A	T	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	c.19A>T	p.I7F	non-syn	rs150190385	0.00191	T=9/A=6719;T=1/A=3834;T=10/A=10553	-	DAMAGING	B	HGMD	het	2
2	X	138612942	A	T	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	c.19A>T	p.I7F	non-syn	rs150190385	0.00191	T=9/A=6719;T=1/A=3834;T=10/A=10553	-	DAMAGING	B	HGMD	hom	1
3	X	138612942	A	T	ENST00000394090	ENSG00000101981	138612917	138645617	ENSP00000377650	F9	1	-	c.19A>T	p.I7F	non-syn	rs150190385	0.00191	T=9/A=6719;T=1/A=3834;T=10/A=10553	-	DAMAGING	B	HGMD	het	2
4	X	138612942	A	T	ENST00000394090	ENSG00000101981	138612917	138645617	ENSP00000377650	F9	1	-	c.19A>T	p.I7F	non-syn	rs150190385	0.00191	T=9/A=6719;T=1/A=3834;T=10/A=10553	-	DAMAGING	B	HGMD	hom	1
5	X	138612942	A	T	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	c.26A>T	p.D9V	non-syn	rs150190385	0.00191	T=9/A=6719;T=1/A=3834;T=10/A=10553	-	DAMAGING	B	HGMD	het	2
6	X	138612942	A	T	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	c.26A>T	p.D9V	non-syn	rs150190385	0.00191	T=9/A=6719;T=1/A=3834;T=10/A=10553	-	DAMAGING	B	HGMD	hom	1
7	X	138619169	T	G	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	c.89T>G	p.V30G	non-syn	NA	-	-	lod=47:381	DAMAGING	D	-	het	1
8	X	138619169	T	G	ENST00000394090	ENSG00000101981	138612917	138645617	ENSP00000377650	F9	1	-	c.89T>G	p.V30G	non-syn	NA	-	-	lod=47:381	DAMAGING	D	-	het	1
9	X	138619169	T	G	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	c.96T>G	p.S32R	non-syn	NA	-	-	lod=47:381	DAMAGING	D	-	het	1
10	X	138619330	A	G	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	c.250A>G	p.T84A	non-syn	rs201120367	-	G=1/A=6727;G=0/A=3835;G=1/A=10562	lod=192:531	DAMAGING	B	HGMD	het	1
11	X	138619330	A	G	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	c.250A>G	p.T84A	non-syn	rs201120367	-	G=1/A=6727;G=0/A=3835;G=1/A=10562	lod=192:531	DAMAGING	B	HGMD	hom	1
12	X	138619330	A	G	ENST00000394090	ENSG00000101981	138612917	138645617	ENSP00000377650	F9	1	-	c.250A>G	p.T84A	non-syn	rs201120367	-	G=1/A=6727;G=0/A=3835;G=1/A=10562	lod=192:531	DAMAGING	B	HGMD	het	1
13	X	138619330	A	G	ENST00000394090	ENSG00000101981	138612917	138645617	ENSP00000377650	F9	1	-	c.250A>G	p.T84A	non-syn	rs201120367	-	G=1/A=6727;G=0/A=3835;G=1/A=10562	lod=192:531	DAMAGING	B	HGMD	hom	1
14	X	138619330	A	G	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	-	-	+15bp 5'_splice_site	rs201120367	-	G=1/A=6727;G=0/A=3835;G=1/A=10562	lod=192:531	DAMAGING	B	HGMD	het	1
15	X	138619330	A	G	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	-	-	+15bp 5'_splice_site	rs201120367	-	G=1/A=6727;G=0/A=3835;G=1/A=10562	lod=192:531	DAMAGING	B	HGMD	hom	1
16	X	138623355	A	G	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	-	-	+7bp 5'_splice_site	rs6049	0.1161	G=4/A=6724;G=514/A=3321;G=518/A=10045	-	-	-	-	het	4
17	X	138623355	A	G	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	-	-	+7bp 5'_splice_site	rs6049	0.1161	G=4/A=6724;G=514/A=3321;G=518/A=10045	-	-	-	-	hom	4
18	X	138623355	A	G	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	-	-	+7bp 5'_splice_site	rs6049	0.1161	G=4/A=6724;G=514/A=3321;G=518/A=10045	-	-	-	-	het	4
19	X	138623355	A	G	ENST00000479617	ENSG00000101981	138612917	138645617	-	F9	1	-	-	-	+7bp 5'_splice_site	rs6049	0.1161	G=4/A=6724;G=514/A=3321;G=518/A=10045	-	-	-	-	hom	4
20	X	138623358	T	G	ENST00000218099	ENSG00000101981	138612917	138645617	ENSP00000218099	F9	1	FA9_HUMAN	-	-	+10bp 5'_splice_site	NA	-	G=17/T=6711;G=1/T=3834;G=18/T=10545	-	-	-	-	hom	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 F9 X:138612917..138645617 region Gbrowse