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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 MSX1:

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
ENSG00000163132	MSX1	0	0	10	ENSG00000163132	ENST00000382723	ENSP00000372170	msh homeobox 1 [Source:HGNC Symbol;Acc:7391]	4	4861393	4865663	1	p16.2	4861393	4865663	MSX1	MSX1-001	HGNC Symbol	HGNC transcript name	2	56.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4487	7391	MSX1	NM_002448	27524

MSeqDR Master Exome Data Set M1: 47 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	4	4861547	C	T	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	4	4861548	C	A	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	4	4861609	G	A	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	-	-	5'_UTR	rs186861426	0.0467	A=115/G=4415;A=15/G=2293;A=130/G=6708	lod=333:590	-	-	-	hom	5
4	4	4861609	G	A	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	-	-	5'_UTR	rs186861426	0.0467	A=115/G=4415;A=15/G=2293;A=130/G=6708	lod=333:590	-	-	-	het	30
5	4	4861745	C	G	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	c.119C>G	p.A40G	non-syn	rs36059701	0.1884	G=677/C=4129;G=241/C=2261;G=918/C=6390	-	TOLERATED	NA	Cleft lip and palate	het	183
6	4	4861745	C	G	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	c.119C>G	p.A40G	non-syn	rs36059701	0.1884	G=677/C=4129;G=241/C=2261;G=918/C=6390	-	TOLERATED	NA	Cleft lip and palate	hom	28
7	4	4861974	C	T	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	c.348C>T	p.G116G	syn	rs34165410	0.0696	T=315/C=7651;T=260/C=3612;T=575/C=11263	lod=266:566	-	-	-	het	85
8	4	4861974	C	T	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	c.348C>T	p.G116G	syn	rs34165410	0.0696	T=315/C=7651;T=260/C=3612;T=575/C=11263	lod=266:566	-	-	-	hom	4
9	4	4864230	A	G	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.76A>G	p.T26A	non-syn	rs10014077	0.05019	-	-	-	-	-	het	57
10	4	4864230	A	G	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.76A>G	p.T26A	non-syn	rs10014077	0.05019	-	-	-	-	-	hom	3
11	4	4864276	A	G	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.122A>G	p.Y41C	non-syn	rs10213148	0.0677	-	-	-	-	-	het	66
12	4	4864276	A	G	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.122A>G	p.Y41C	non-syn	rs10213148	0.0677	-	-	-	-	-	hom	3
13	4	4864299	G	A	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.145G>A	p.A49T	non-syn	rs10000804	0.0563	-	-	-	-	-	het	68
14	4	4864299	G	A	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.145G>A	p.A49T	non-syn	rs10000804	0.0563	-	-	-	-	-	hom	2
15	4	4864301	C	A	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.147C>A	p.A49A	syn	rs33946149	0.1636	-	-	-	-	-	het	109
16	4	4864301	C	A	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.147C>A	p.A49A	syn	rs33946149	0.1636	-	-	-	-	-	hom	14
17	4	4864429	G	T	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	c.471G>T	p.R157S	non-syn	rs150284621	0.0204	-	lod=1598:758	DAMAGING	NA	HGMD	het	2
18	4	4864429	G	T	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.183G>T	p.G61G	syn	rs150284621	0.0204	-	lod=1598:758	DAMAGING	NA	HGMD	het	2
19	4	4864459	C	G	ENST00000382723	ENSG00000163132	4861393	4865663	ENSP00000372170	MSX1	1	MSX1_HUMAN	c.501C>G	p.R167R	syn	NA	-	-	lod=1598:758	-	-	-	het	2
20	4	4864459	C	G	ENST00000468421	ENSG00000163132	4861393	4865663	-	MSX1	1	-	c.213C>G	p.R71R	syn	NA	-	-	lod=1598:758	-	-	-	het	2

** 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 MSX1 4:4861393..4865663 region Gbrowse