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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 ENSG00000258947:

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
ENSG00000258947	TUBB3	1	0	27	ENSG00000258947	ENST00000555810	ENSP00000450538	Tubulin beta-3 chain [Source:UniProtKB/Swiss-Prot;Acc:Q13509]	16	89987800	90005169	1	q24.3	89987800	90001643	TUBB3	TUBB3-004	UniProtKB Gene Name	UniProt transcript name	15	58.5	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	10381	20772			27514

MSeqDR Master Exome Data Set M1: 342 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	16	89985633	T	+C	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	16	89985643	C	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	-	-	5'_UTR	rs190819948	0.0016	T=0/C=8166;T=2/C=3920;T=2/C=12086	-	-	-	-	het	2
3	16	89985750	C	+A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.84_85insA	p.N29NA	non-syn	NA	-	-	lod=13:243	-	-	-	het	3
4	16	89985792	C	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.126C>T	p.D42D	syn	NA	-	T=1/C=8369;T=0/C=4038;T=1/C=12407	lod=177:522	-	-	-	het	1
5	16	89985844	G	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.178G>T	p.V60L	non-syn	rs1805005	0.1259	T=1137/G=7385;T=98/G=4236;T=1235/G=11621	lod=62:410	DAMAGING	-	Fair hair, association with	hom	6
6	16	89985844	G	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.178G>T	p.V60L	non-syn	rs1805005	0.1259	T=1137/G=7385;T=98/G=4236;T=1235/G=11621	lod=62:410	DAMAGING	-	Fair hair, association with	het	193
7	16	89985866	G	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.200G>A	p.R67Q	non-syn	rs34090186	0.0014	A=2/G=8536;A=0/G=4366;A=2/G=12902	lod=136:494	DAMAGING	-	-	het	2
8	16	89985913	T	C	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.247T>C	p.S83P	non-syn	rs34474212	-	C=9/T=8557;C=1/T=4377;C=10/T=12934	lod=18:278	DAMAGING	-	Red hair, association with	het	1
9	16	89985918	C	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.252C>A	p.D84E	non-syn	rs1805006	0.01	A=86/C=8490;A=8/C=4374;A=94/C=12864	lod=104:466	DAMAGING	-	Melanoma, association with	het	20
10	16	89985940	G	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.274G>A	p.V92M	non-syn	rs2228479	0.1538	A=735/G=7833;A=85/G=4299;A=820/G=12132	lod=90:450	DAMAGING	-	Ephelides, increased risk, association with	het	139
11	16	89985940	G	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.274G>A	p.V92M	non-syn	rs2228479	0.1538	A=735/G=7833;A=85/G=4299;A=820/G=12132	lod=90:450	DAMAGING	-	Ephelides, increased risk, association with	hom	11
12	16	89985950	C	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.284C>T	p.T95M	non-syn	rs34158934	-	T=5/C=8569;T=3/C=4379;T=8/C=12948	lod=90:450	DAMAGING	-	Melanoma ?	het	3
13	16	89985958	A	G	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.292A>G	p.I98V	non-syn	NA	-	G=0/A=8572;G=1/A=4379;G=1/A=12951	lod=74:429	DAMAGING	-	-	het	2
14	16	89986025	T	C	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.359T>C	p.I120T	non-syn	rs33932559	0.0322	C=2/T=8596;C=0/T=4392;C=2/T=12988	lod=18:278	DAMAGING	-	-	het	4
15	16	89986030	G	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.364G>A	p.V122M	non-syn	rs201192930	-	A=1/G=8599;A=1/G=4391;A=2/G=12990	lod=198:534	DAMAGING	-	HGMD	het	1
16	16	89986091	G	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.425G>A	p.R142H	non-syn	rs11547464	0.0054	A=64/G=8536;A=3/G=4393;A=67/G=12929	lod=204:538	DAMAGING	-	Red hair, association with	het	13
17	16	89986111	G	A	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.445G>A	p.A149T	non-syn	NA	-	A=1/G=8599;A=1/G=4395;A=2/G=12994	lod=204:538	DAMAGING	-	HGMD	het	2
18	16	89986117	C	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.451C>T	p.R151C	non-syn	rs1805007	0.056	T=655/C=7945;T=75/C=4321;T=730/C=12266	lod=146:502	DAMAGING	-	UV-induced skin damage, vulnerability to	het	98
19	16	89986117	C	T	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.451C>T	p.R151C	non-syn	rs1805007	0.056	T=655/C=7945;T=75/C=4321;T=730/C=12266	lod=146:502	DAMAGING	-	UV-induced skin damage, vulnerability to	hom	4
20	16	89986121	A	C	ENST00000556922	ENSG00000198211	89985573	90002500	ENSP00000451560	TUBB3	1	-	c.455A>C	p.Y152S	non-syn	NA	-	-	lod=146:502	DAMAGING	-	-	het	1

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Transcripts and variants in the surrounding TUBB3 16:89985573..90002500 region Gbrowse