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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 HBB:

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
ENSG00000244734	HBB	0	1	512	ENSG00000244734	ENST00000335295	ENSP00000333994	hemoglobin, beta [Source:HGNC Symbol;Acc:4827]	11	5246694	5250625	-1	p15.4	5246694	5248301	HBB	HBB-001	HGNC Symbol	HGNC transcript name	4	37.64	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3043	4827	HBB	NM_000518	27504

MSeqDR Master Exome Data Set M1: 52 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	5246732	A	G	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	-	-	3'_UTR	rs34029390	-	-	-	-	-	HGMD	het	5
2	11	5246737	C	T	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	-	-	3'_UTR	rs193922549	-	-	-	-	-	-	het	2
3	11	5246766	T	C	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	11	5246870	C	G	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	c.402G>C	p.V134V	syn	rs113082294	0.00293	G=45/C=8551;G=4/C=4398;G=49/C=12949	lod=85:444	DAMAGING	-	-	het	9
5	11	5246908	C	G	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	c.364G>C	p.E122Q	non-syn	rs33946267	-	G=2/C=8594;G=0/C=4402;G=2/C=12996	-	DAMAGING	B	HGMD	het	1
6	11	5246908	C	G	ENST00000475226	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.296G>C	p.R99T	non-syn	rs33946267	-	G=2/C=8594;G=0/C=4402;G=2/C=12996	-	DAMAGING	B	HGMD	het	1
7	11	5247726	G	A	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.447C>T	p.N149N	syn	rs7946748	0.11636	-	-	-	-	-	het	151
8	11	5247726	G	A	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.447C>T	p.N149N	syn	rs7946748	0.11636	-	-	-	-	-	hom	10
9	11	5247733	A	C	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.440T>G	p.I147R	non-syn	rs7480526	0.45636	-	-	-	-	-	het	397
10	11	5247733	A	C	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.440T>G	p.I147R	non-syn	rs7480526	0.45636	-	-	-	-	-	hom	220
11	11	5247781	A	C	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.392T>G	p.F131C	non-syn	NA	-	C=30/A=8566;C=1/A=4401;C=31/A=12967	-	-	-	-	hom	1
12	11	5247781	A	C	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.392T>G	p.F131C	non-syn	NA	-	C=30/A=8566;C=1/A=4401;C=31/A=12967	-	-	-	-	het	25
13	11	5247791	C	G	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	-	-	+16bp 5'_splice_site	rs10768683	0.79304	G=7229/C=1367;G=3831/C=571;G=11060/C=1938	-	-	-	-	het	223
14	11	5247791	C	G	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	-	-	+16bp 5'_splice_site	rs10768683	0.79304	G=7229/C=1367;G=3831/C=571;G=11060/C=1938	-	-	-	-	hom	618
15	11	5247791	C	G	ENST00000475226	ENSG00000244734	5246694	5250625	-	HBB	-1	-	-	-	+16bp 5'_splice_site	rs10768683	0.79304	G=7229/C=1367;G=3831/C=571;G=11060/C=1938	-	-	-	-	het	223
16	11	5247791	C	G	ENST00000475226	ENSG00000244734	5246694	5250625	-	HBB	-1	-	-	-	+16bp 5'_splice_site	rs10768683	0.79304	G=7229/C=1367;G=3831/C=571;G=11060/C=1938	-	-	-	-	hom	618
17	11	5247791	C	G	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.382G>C	p.A128P	non-syn	rs10768683	0.79304	G=7229/C=1367;G=3831/C=571;G=11060/C=1938	-	-	-	-	het	223
18	11	5247791	C	G	ENST00000485743	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.382G>C	p.A128P	non-syn	rs10768683	0.79304	G=7229/C=1367;G=3831/C=571;G=11060/C=1938	-	-	-	-	hom	618
19	11	5247828	G	A	ENST00000335295	ENSG00000244734	5246694	5250625	ENSP00000333994	HBB	-1	HBB_HUMAN	c.294C>T	p.H98H	syn	rs34515413	-	A=6/G=8590;A=0/G=4402;A=6/G=12992	lod=297:578	-	-	BBHaemoglobin variant	het	3
20	11	5247828	G	A	ENST00000475226	ENSG00000244734	5246694	5250625	-	HBB	-1	-	c.226C>T	p.R76C	non-syn	rs34515413	-	A=6/G=8590;A=0/G=4402;A=6/G=12992	lod=297:578	-	-	BBHaemoglobin variant	het	3

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Transcripts and variants in the surrounding HBB 11:5246694..5250625 region Gbrowse