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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 ATRX:

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
ENSG00000268946	ATRX	0	0	96	ENSG00000268946	ENST00000596097	ENSP00000472963	alpha thalassemia/mental retardation syndrome X-linked [Source:HGNC Symbol;Acc:886]	HG1426_PATCH	76765832	77047170	-1	q21.1	76765832	77047170	ATRX	ATRX-001	HGNC Symbol	HGNC transcript name	8	37.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	546	886	ATRX		0
ENSG00000085224	ATRX	0	0	96	ENSG00000085224	ENST00000373344	ENSP00000362441	alpha thalassemia/mental retardation syndrome X-linked [Source:HGNC Symbol;Acc:886]	X	76760356	77041702	-1	q21.1	76760356	77041702	ATRX	ATRX-001	HGNC Symbol	HGNC transcript name	8	37.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	546	886	ATRX	NM_000489	27516

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MSeqDR Master Exome Data Set M1: 218 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	76760406	A	-TGT	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs199959934	-	-	-	-	-	-	hom	9
2	X	76760406	A	-TGT	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs199959934	-	-	-	-	-	-	het	21
3	X	76760406	A	-TGT	ENST00000395603	ENSG00000085224	76760356	77041702	ENSP00000378967	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs199959934	-	-	-	-	-	-	hom	9
4	X	76760406	A	-TGT	ENST00000395603	ENSG00000085224	76760356	77041702	ENSP00000378967	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs199959934	-	-	-	-	-	-	het	21
5	X	76760406	A	-TGT	ENST00000480283	ENSG00000085224	76760356	77041702	-	ATRX	-1	-	c.11237_11239del	p.I3747NA	non-syn	rs199959934	-	-	-	-	-	-	hom	9
6	X	76760406	A	-TGT	ENST00000480283	ENSG00000085224	76760356	77041702	-	ATRX	-1	-	c.11237_11239del	p.I3747NA	non-syn	rs199959934	-	-	-	-	-	-	het	21
7	X	76761507	A	+T	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	NA	-	-	lod=3283:835	-	-	-	het	2
8	X	76761507	A	+T	ENST00000395603	ENSG00000085224	76760356	77041702	ENSP00000378967	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	NA	-	-	lod=3283:835	-	-	-	het	2
9	X	76761507	A	+T	ENST00000480283	ENSG00000085224	76760356	77041702	-	ATRX	-1	-	c.10138_10139insA	p.M3380NA	non-syn	NA	-	-	lod=3283:835	-	-	-	het	2
10	X	76761769	G	A	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	NA	-	-	lod=3283:835	-	-	-	het	2
11	X	76761769	G	A	ENST00000395603	ENSG00000085224	76760356	77041702	ENSP00000378967	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	NA	-	-	lod=3283:835	-	-	-	het	2
12	X	76761769	G	A	ENST00000480283	ENSG00000085224	76760356	77041702	-	ATRX	-1	-	c.9877C>T	p.H3293Y	non-syn	NA	-	-	lod=3283:835	-	-	-	het	2
13	X	76761940	T	C	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs191264448	0.0015	-	-	-	-	-	hom	1
14	X	76761940	T	C	ENST00000395603	ENSG00000085224	76760356	77041702	ENSP00000378967	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs191264448	0.0015	-	-	-	-	-	hom	1
15	X	76761940	T	C	ENST00000480283	ENSG00000085224	76760356	77041702	-	ATRX	-1	-	c.9706A>G	p.M3236V	non-syn	rs191264448	0.0015	-	-	-	-	-	hom	1
16	X	76761942	T	C	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
17	X	76761942	T	C	ENST00000395603	ENSG00000085224	76760356	77041702	ENSP00000378967	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
18	X	76761942	T	C	ENST00000480283	ENSG00000085224	76760356	77041702	-	ATRX	-1	-	c.9704A>G	p.N3235S	non-syn	NA	-	-	-	-	-	-	hom	1
19	X	76762191	C	T	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs6623513	0.1181	-	-	-	-	-	het	8
20	X	76762191	C	T	ENST00000373344	ENSG00000085224	76760356	77041702	ENSP00000362441	ATRX	-1	ATRX_HUMAN	-	-	3'_UTR	rs6623513	0.1181	-	-	-	-	-	hom	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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding ATRX X:76760356..77041702 region Gbrowse