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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 FOXC2:

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
ENSG00000176692	FOXC2	0	0	0	ENSG00000176692	ENST00000320354	ENSP00000326371	forkhead box C2 (MFH-1, mesenchyme forkhead 1) [Source:HGNC Symbol;Acc:3801]	16	86600857	86602539	1	q24.1	86600857	86602539	FOXC2	FOXC2-001	HGNC Symbol	HGNC transcript name	1	70.89	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2303	3801	FOXC2	NM_005251	27514

MSeqDR Master Exome Data Set M1: 21 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	16	86600969	C	A	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.28C>A	p.P10T	non-syn	NA	-	-	lod=416:614	DAMAGING	D	-	het	1
2	16	86601049	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.108C>T	p.S36S	syn	rs138318843	0.0079	T=95/C=8501;T=7/C=4389;T=102/C=12890	lod=2064:785	-	-	-	hom	1
3	16	86601049	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.108C>T	p.S36S	syn	rs138318843	0.0079	T=95/C=8501;T=7/C=4389;T=102/C=12890	lod=2064:785	-	-	-	het	16
4	16	86601148	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.207C>T	p.D69D	syn	NA	-	-	lod=2064:785	-	-	-	het	1
5	16	86601172	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.231C>T	p.Y77Y	syn	rs138472501	-	T=0/C=8600;T=1/C=4395;T=1/C=12995	lod=2064:785	-	-	-	het	3
6	16	86601367	G	A	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.426G>A	p.K142K	syn	rs41312258	0.0073	A=22/G=8578;A=0/G=4396;A=22/G=12974	lod=170:518	-	-	-	het	4
7	16	86601524	C	G	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.583C>G	p.P195A	non-syn	rs200751941	-	-	lod=44:374	TOLERATED	B	-	het	1
8	16	86601589	G	A	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.648G>A	p.E216E	syn	rs79883807	-	A=0/G=7710;A=44/G=3794;A=44/G=11504	lod=446:621	-	-	-	het	2
9	16	86601707	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.766C>T	p.L256L	syn	NA	-	-	lod=446:621	-	-	-	het	2
10	16	86601723	C	A	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.782C>A	p.A261D	non-syn	NA	-	-	lod=40:363	TOLERATED	B	-	het	2
11	16	86601736	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.795C>T	p.N265N	syn	NA	-	-	lod=363:599	-	-	-	het	1
12	16	86601773	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.832C>T	p.L278L	syn	NA	-	-	lod=363:599	-	-	-	het	2
13	16	86601821	G	C	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.880G>C	p.A294P	non-syn	NA	-	-	lod=363:599	TOLERATED	B	-	het	2
14	16	86601918	C	G	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.977C>G	p.A326G	non-syn	NA	-	-	lod=213:542	TOLERATED	B	-	het	3
15	16	86602034	C	T	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.1093C>T	p.P365S	non-syn	NA	-	-	lod=241:555	TOLERATED	B	HGMD	het	1
16	16	86602138	G	A	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.1197G>A	p.A399A	syn	NA	-	-	lod=96:457	-	-	-	het	3
17	16	86602272	A	G	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.1331A>G	p.Q444R	non-syn	rs147258453	-	G=12/A=8574;G=1/A=4389;G=13/A=12963	lod=464:625	DAMAGING	D	HGMD	het	2
18	16	86602433	T	C	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	c.1492T>C	p.C498R	non-syn	rs61753346	0.0042	C=14/T=8262;C=1/T=4165;C=15/T=12427	lod=142:499	TOLERATED	D	-	het	3
19	16	86602473	G	A	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	2
20	16	86602485	T	G	ENST00000320354	ENSG00000176692	86600857	86602539	ENSP00000326371	FOXC2	1	FOXC2_HUMAN	-	-	3'_UTR	rs199552394	-	G=13/T=7217;G=17/T=3657;G=30/T=10874	-	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FOXC2 16:86600857..86602539 region Gbrowse