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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 RAG1:

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
ENSG00000166349	RAG1	0	0	49	ENSG00000166349	ENST00000529126		recombination activating gene 1 [Source:HGNC Symbol;Acc:9831]	11	36532259	36614706	1	p12	36532259	36557562	RAG1	RAG1-003	HGNC Symbol	HGNC transcript name	3	39.11	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	5896	9831	RAG1		27504

MSeqDR Master Exome Data Set M1: 79 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	11	36595043	A	G	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.189A>G	p.P63P	syn	rs34357808	0.0359	G=8/A=8588;G=178/A=4226;G=186/A=12814	-	-	-	-	het	4
2	11	36595043	A	G	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.189A>G	p.P63P	syn	rs34357808	0.0359	G=8/A=8588;G=178/A=4226;G=186/A=12814	-	-	-	-	het	4
3	11	36595105	A	G	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.251A>G	p.H84R	non-syn	rs150199231	0.0131	G=0/A=8596;G=69/A=4335;G=69/A=12931	-	TOLERATED	D	-	het	1
4	11	36595105	A	G	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.251A>G	p.H84R	non-syn	rs150199231	0.0131	G=0/A=8596;G=69/A=4335;G=69/A=12931	-	TOLERATED	D	-	het	1
5	11	36595157	G	A	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.303G>A	p.A101A	syn	rs4151025	0.01753	A=238/G=8358;A=28/G=4376;A=266/G=12734	-	-	-	-	het	39
6	11	36595157	G	A	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.303G>A	p.A101A	syn	rs4151025	0.01753	A=238/G=8358;A=28/G=4376;A=266/G=12734	-	-	-	-	het	39
7	11	36595232	A	G	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.378A>G	p.R126R	syn	NA	-	-	lod=45:376	-	-	-	het	4
8	11	36595232	A	G	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.378A>G	p.R126R	syn	NA	-	-	lod=45:376	-	-	-	het	4
9	11	36595279	G	A	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.425G>A	p.R142Q	non-syn	NA	-	A=3/G=8593;A=0/G=4404;A=3/G=12997	lod=285:573	DAMAGING	D	-	het	1
10	11	36595279	G	A	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.425G>A	p.R142Q	non-syn	NA	-	A=3/G=8593;A=0/G=4404;A=3/G=12997	lod=285:573	DAMAGING	D	-	het	1
11	11	36595409	G	C	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.555G>C	p.R185S	non-syn	NA	-	-	lod=49:385	DAMAGING	D	-	het	2
12	11	36595409	G	C	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.555G>C	p.R185S	non-syn	NA	-	-	lod=49:385	DAMAGING	D	-	het	2
13	11	36595431	G	A	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.577G>A	p.E193K	non-syn	rs34841221	-	A=0/G=8596;A=9/G=4395;A=9/G=12991	lod=17:272	DAMAGING	B	-	het	1
14	11	36595431	G	A	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.577G>A	p.E193K	non-syn	rs34841221	-	A=0/G=8596;A=9/G=4395;A=9/G=12991	lod=17:272	DAMAGING	B	-	het	1
15	11	36595579	A	G	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.725A>G	p.Q242R	non-syn	rs76897604	0.00364	G=24/A=8572;G=5/A=4399;G=29/A=12971	-	TOLERATED	B	-	het	5
16	11	36595579	A	G	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.725A>G	p.Q242R	non-syn	rs76897604	0.00364	G=24/A=8572;G=5/A=4399;G=29/A=12971	-	TOLERATED	B	-	het	5
17	11	36595594	G	A	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.740G>A	p.R247H	non-syn	rs4151029	0.0028	A=0/G=8596;A=12/G=4392;A=12/G=12988	lod=20:289	DAMAGING	D	-	het	1
18	11	36595594	G	A	ENST00000534663	ENSG00000166349	36532259	36614706	ENSP00000434610	RAG1	1	-	c.740G>A	p.R247H	non-syn	rs4151029	0.0028	A=0/G=8596;A=12/G=4392;A=12/G=12988	lod=20:289	DAMAGING	D	-	het	1
19	11	36595600	A	G	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.746A>G	p.H249R	non-syn	rs3740955	0.6879	G=2888/A=5708;G=3200/A=1204;G=6088/A=6912	-	TOLERATED	NA	-	het	376
20	11	36595600	A	G	ENST00000299440	ENSG00000166349	36532259	36614706	ENSP00000299440	RAG1	1	RAG1_HUMAN	c.746A>G	p.H249R	non-syn	rs3740955	0.6879	G=2888/A=5708;G=3200/A=1204;G=6088/A=6912	-	TOLERATED	NA	-	hom	180

** 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 RAG1 11:36532259..36614706 region Gbrowse