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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 RB1:

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
ENSG00000139687	RB1	0	0	118	ENSG00000139687	ENST00000525036		retinoblastoma 1 [Source:HGNC Symbol;Acc:9884]	13	48877887	49056122	1	q14.2	48877887	48934873	RB1	RB1-006	HGNC Symbol	HGNC transcript name	6	36.91	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5925	9884	RB1		27513

MSeqDR Master Exome Data Set M1: 78 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	13	48877898	G	C	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	c.12G>C	p.A4A	syn	NA	-	-	lod=207:539	-	-	-	het	1
2	13	48878090	C	T	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	c.42C>T	p.A14A	syn	rs148980395	-	-	-	-	-	-	het	1
3	13	48878090	C	T	ENST00000467505	ENSG00000139687	48877887	49056122	ENSP00000434702	RB1	1	-	c.42C>T	p.A14A	syn	rs148980395	-	-	-	-	-	-	het	1
4	13	48878090	C	T	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	c.204C>T	p.A68A	syn	rs148980395	-	-	-	-	-	-	het	1
5	13	48916837	A	G	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	c.367A>G	p.N123D	non-syn	rs149800437	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=88:448	DAMAGING	B	-	het	2
6	13	48916837	A	G	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	c.529A>G	p.N177D	non-syn	rs149800437	-	G=2/A=8598;G=0/A=4406;G=2/A=13004	lod=88:448	DAMAGING	B	-	het	2
7	13	48916860	C	G	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	-	-	+10bp 5'_splice_site	rs187110786	0.00378	G=21/C=8575;G=2/C=4404;G=23/C=12979	lod=88:448	-	-	-	het	2
8	13	48916860	C	G	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	-	-	+10bp 5'_splice_site	rs187110786	0.00378	G=21/C=8575;G=2/C=4404;G=23/C=12979	lod=88:448	-	-	-	het	2
9	13	48916862	T	C	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	-	-	+12bp 5'_splice_site	rs3092881	0.0265	C=0/T=8596;C=140/T=4266;C=140/T=12862	-	-	-	-	het	3
10	13	48916862	T	C	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	-	-	+12bp 5'_splice_site	rs3092881	0.0265	C=0/T=8596;C=140/T=4266;C=140/T=12862	-	-	-	-	het	3
11	13	48934140	A	-T	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	-	-	-12bp 3'_splice_site	NA	-	-	lod=459:624	-	-	-	het	6
12	13	48934140	A	+T	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	-	-	-13bp 3'_splice_site	NA	-	-	lod=459:624	-	-	-	het	2
13	13	48934140	A	-T	ENST00000467505	ENSG00000139687	48877887	49056122	ENSP00000434702	RB1	1	-	-	-	-12bp 3'_splice_site	NA	-	-	lod=459:624	-	-	-	het	6
14	13	48934140	A	+T	ENST00000467505	ENSG00000139687	48877887	49056122	ENSP00000434702	RB1	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=459:624	-	-	-	het	2
15	13	48934140	A	-T	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	-	-	-12bp 3'_splice_site	NA	-	-	lod=459:624	-	-	-	het	6
16	13	48934140	A	+T	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=459:624	-	-	-	het	2
17	13	48934289	T	C	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	c.906T>C	p.F302F	syn	rs3092867	-	C=9/T=8575;C=0/T=4404;C=9/T=12979	-	-	-	-	het	3
18	13	48934298	A	T	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	c.915A>T	p.S305S	syn	rs3092868	0.0156	T=1/A=8583;T=141/A=4263;T=142/A=12846	-	-	-	-	het	1
19	13	48934575	A	T	ENST00000525036	ENSG00000139687	48877887	49056122	-	RB1	1	-	c.1192A>T	p.S398C	non-syn	rs198619	0.70459	-	-	-	-	-	hom	2
20	13	48939097	G	A	ENST00000267163	ENSG00000139687	48877887	49056122	ENSP00000267163	RB1	1	RB_HUMAN	c.929G>A	p.G310E	non-syn	rs200844292	-	A=2/G=8468;A=0/G=4260;A=2/G=12728	lod=383:605	DAMAGING	P	HGMD	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.

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 RB1 13:48877887..49056122 region Gbrowse