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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 ALX1:

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
ENSG00000180318	ALX1	0	0	2	ENSG00000180318	ENST00000316824	ENSP00000315417	ALX homeobox 1 [Source:HGNC Symbol;Acc:1494]	12	85673885	85695562	1	q21.31	85673885	85695562	ALX1	ALX1-001	HGNC Symbol	HGNC transcript name	1	31.86	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8092	1494	ALX1	NM_006982	27519

MSeqDR Master Exome Data Set M1: 16 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	12	85673959	C	T	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=83:441	-	-	-	het	7
2	12	85673965	C	+CCA	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=83:441	-	-	-	het	2
3	12	85674021	G	A	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	-	-	5'_UTR	rs142324538	0.0059	A=101/G=8461;A=11/G=4375;A=112/G=12836	-	-	-	-	het	23
4	12	85674087	A	G	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.48A>G	p.K16K	syn	rs116409037	0.0154	G=136/A=8464;G=17/A=4389;G=153/A=12853	lod=775:680	-	-	-	het	32
5	12	85674188	T	C	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.149T>C	p.V50A	non-syn	rs150692244	-	C=0/T=8600;C=1/T=4405;C=1/T=13005	lod=495:632	TOLERATED	B	-	het	1
6	12	85674221	A	G	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.182A>G	p.H61R	non-syn	rs115440539	0.0104	G=95/A=8505;G=10/A=4396;G=105/A=12901	lod=495:632	DAMAGING	D	-	het	24
7	12	85674221	A	G	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.182A>G	p.H61R	non-syn	rs115440539	0.0104	G=95/A=8505;G=10/A=4396;G=105/A=12901	lod=495:632	DAMAGING	D	-	hom	1
8	12	85674229	C	T	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.190C>T	p.R64C	non-syn	rs145944049	-	T=29/C=8571;T=4/C=4402;T=33/C=12973	lod=495:632	DAMAGING	D	-	het	2
9	12	85674230	G	T	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.191G>T	p.R64L	non-syn	rs115596276	0.0035	T=61/G=8537;T=9/G=4397;T=70/G=12934	lod=495:632	DAMAGING	P	-	het	5
10	12	85677360	G	T	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.237G>T	p.G79G	syn	rs143246153	-	T=0/G=8600;T=1/G=4405;T=1/G=13005	lod=149:504	-	-	-	het	1
11	12	85677389	A	G	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.266A>G	p.H89R	non-syn	rs75478848	0.0373	G=1/A=8599;G=179/A=4227;G=180/A=12826	lod=149:504	DAMAGING	D	-	het	3
12	12	85680614	T	C	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	-	-	-17bp 3'_splice_site	rs189121824	0.00194	C=23/T=8475;C=4/T=4340;C=27/T=12815	-	-	-	-	het	3
13	12	85680614	T	C	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	-	-	-17bp 3'_splice_site	rs189121824	0.00194	C=23/T=8475;C=4/T=4340;C=27/T=12815	-	-	-	-	hom	1
14	12	85680687	A	G	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.588A>G	p.I196M	non-syn	NA	-	-	lod=969:704	TOLERATED	D	-	het	2
15	12	85680729	A	T	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	c.630A>T	p.S210S	syn	rs115409839	0.0216	T=0/A=8600;T=110/A=4296;T=110/A=12896	lod=969:704	-	-	-	het	2
16	12	85695265	C	-TT	ENST00000316824	ENSG00000180318	85673885	85695562	ENSP00000315417	ALX1	1	ALX1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1520:752	-	-	-	het	3

** 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 ALX1 12:85673885..85695562 region Gbrowse