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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 TBX1:

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
ENSG00000184058	TBX1	0	0	7	ENSG00000184058	ENST00000332710	ENSP00000331791	T-box 1 [Source:HGNC Symbol;Acc:11592]	22	19744226	19771116	1	q11.21	19744226	19754855	TBX1	TBX1-003	HGNC Symbol	HGNC transcript name	5	57.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	6899	11592	TBX1	NM_080647	27510

MSeqDR Master Exome Data Set M1: 120 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	22	19747082	G	C	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs737868	0.6084	-	lod=541:642	-	-	-	het	289
2	22	19747082	G	C	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs737868	0.6084	-	lod=541:642	-	-	-	hom	346
3	22	19747082	G	C	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs737868	0.6084	-	lod=541:642	-	-	-	het	289
4	22	19747082	G	C	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs737868	0.6084	-	lod=541:642	-	-	-	hom	346
5	22	19747082	G	C	ENST00000359500	ENSG00000184058	19744226	19771116	ENSP00000352483	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs737868	0.6084	-	lod=541:642	-	-	-	het	289
6	22	19747082	G	C	ENST00000359500	ENSG00000184058	19744226	19771116	ENSP00000352483	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs737868	0.6084	-	lod=541:642	-	-	-	hom	346
7	22	19747128	C	T	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs72646950	-	T=14/C=8576;T=1/C=4375;T=15/C=12951	-	-	-	Cardiovascular defects	het	1
8	22	19747128	C	T	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs72646950	-	T=14/C=8576;T=1/C=4375;T=15/C=12951	-	-	-	Cardiovascular defects	het	1
9	22	19747128	C	T	ENST00000359500	ENSG00000184058	19744226	19771116	ENSP00000352483	TBX1	1	TBX1_HUMAN	-	-	5'_UTR	rs72646950	-	T=14/C=8576;T=1/C=4375;T=15/C=12951	-	-	-	Cardiovascular defects	het	1
10	22	19748468	G	T	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	c.75G>T	p.G25G	syn	rs72646952	-	-	lod=867:692	-	-	-	het	14
11	22	19748468	G	T	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	c.75G>T	p.G25G	syn	rs72646952	-	-	lod=867:692	-	-	-	hom	2
12	22	19748468	G	T	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	c.75G>T	p.G25G	syn	rs72646952	-	-	lod=867:692	-	-	-	het	14
13	22	19748468	G	T	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	c.75G>T	p.G25G	syn	rs72646952	-	-	lod=867:692	-	-	-	hom	2
14	22	19748468	G	T	ENST00000359500	ENSG00000184058	19744226	19771116	ENSP00000352483	TBX1	1	TBX1_HUMAN	c.75G>T	p.G25G	syn	rs72646952	-	-	lod=867:692	-	-	-	het	14
15	22	19748468	G	T	ENST00000359500	ENSG00000184058	19744226	19771116	ENSP00000352483	TBX1	1	TBX1_HUMAN	c.75G>T	p.G25G	syn	rs72646952	-	-	lod=867:692	-	-	-	hom	2
16	22	19748690	G	A	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	c.297G>A	p.A99A	syn	rs72646953	0.0149	A=265/G=8321;A=34/G=4350;A=299/G=12671	lod=720:672	-	-	-	het	28
17	22	19748690	G	A	ENST00000329705	ENSG00000184058	19744226	19771116	ENSP00000331176	TBX1	1	TBX1_HUMAN	c.297G>A	p.A99A	syn	rs72646953	0.0149	A=265/G=8321;A=34/G=4350;A=299/G=12671	lod=720:672	-	-	-	hom	2
18	22	19748690	G	A	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	c.297G>A	p.A99A	syn	rs72646953	0.0149	A=265/G=8321;A=34/G=4350;A=299/G=12671	lod=720:672	-	-	-	het	28
19	22	19748690	G	A	ENST00000332710	ENSG00000184058	19744226	19771116	ENSP00000331791	TBX1	1	TBX1_HUMAN	c.297G>A	p.A99A	syn	rs72646953	0.0149	A=265/G=8321;A=34/G=4350;A=299/G=12671	lod=720:672	-	-	-	hom	2
20	22	19748690	G	A	ENST00000359500	ENSG00000184058	19744226	19771116	ENSP00000352483	TBX1	1	TBX1_HUMAN	c.297G>A	p.A99A	syn	rs72646953	0.0149	A=265/G=8321;A=34/G=4350;A=299/G=12671	lod=720:672	-	-	-	het	28

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding TBX1 22:19744226..19771116 region Gbrowse