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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 TGM5:

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
ENSG00000104055	TGM5	0	0	8	ENSG00000104055	ENST00000220420	ENSP00000220420	transglutaminase 5 [Source:HGNC Symbol;Acc:11781]	15	43524793	43559055	-1	q15.2	43524793	43559055	TGM5	TGM5-001	HGNC Symbol	HGNC transcript name	4	46.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9333	11781	TGM5	NM_201631	27521

MSeqDR Master Exome Data Set M1: 105 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	15	43525325	G	A	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	15	43525373	C	T	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	15	43525373	C	T	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	15	43525775	G	A	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	c.1986C>T	p.L662L	syn	rs146012721	-	A=0/G=8598;A=17/G=4389;A=17/G=12987	lod=99:460	-	-	-	het	3
5	15	43525775	G	A	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	c.1740C>T	p.L580L	syn	rs146012721	-	A=0/G=8598;A=17/G=4389;A=17/G=12987	lod=99:460	-	-	-	het	3
6	15	43525775	G	A	ENST00000396996	ENSG00000104055	43524793	43559055	-	TGM5	-1	-	c.1462C>T	p.L488F	non-syn	rs146012721	-	A=0/G=8598;A=17/G=4389;A=17/G=12987	lod=99:460	-	-	-	het	3
7	15	43525791	A	G	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	c.1970T>C	p.V657A	non-syn	rs80058195	0.0309	G=0/A=8598;G=139/A=4267;G=139/A=12865	lod=99:460	DAMAGING	P	-	het	1
8	15	43525791	A	G	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	c.1724T>C	p.V575A	non-syn	rs80058195	0.0309	G=0/A=8598;G=139/A=4267;G=139/A=12865	lod=99:460	DAMAGING	P	-	het	1
9	15	43525791	A	G	ENST00000396996	ENSG00000104055	43524793	43559055	-	TGM5	-1	-	c.1446T>C	p.C482C	syn	rs80058195	0.0309	G=0/A=8598;G=139/A=4267;G=139/A=12865	lod=99:460	DAMAGING	P	-	het	1
10	15	43527022	T	G	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	c.1820A>C	p.E607A	non-syn	rs80192997	0.0248	G=0/T=8598;G=139/T=4267;G=139/T=12865	lod=73:428	DAMAGING	D	-	het	2
11	15	43527022	T	G	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	c.1574A>C	p.E525A	non-syn	rs80192997	0.0248	G=0/T=8598;G=139/T=4267;G=139/T=12865	lod=73:428	DAMAGING	D	-	het	2
12	15	43527022	T	G	ENST00000396996	ENSG00000104055	43524793	43559055	-	TGM5	-1	-	c.1296A>C	p.*432C	non-syn	rs80192997	0.0248	G=0/T=8598;G=139/T=4267;G=139/T=12865	lod=73:428	DAMAGING	D	-	het	2
13	15	43527069	G	A	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	c.1773C>T	p.D591D	syn	rs142648722	-	A=43/G=8555;A=2/G=4404;A=45/G=12959	lod=224:548	-	-	-	het	2
14	15	43527069	G	A	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	c.1527C>T	p.D509D	syn	rs142648722	-	A=43/G=8555;A=2/G=4404;A=45/G=12959	lod=224:548	-	-	-	het	2
15	15	43527069	G	A	ENST00000396996	ENSG00000104055	43524793	43559055	-	TGM5	-1	-	c.1249C>T	p.Q417*	non-syn	rs142648722	-	A=43/G=8555;A=2/G=4404;A=45/G=12959	lod=224:548	-	-	-	het	2
16	15	43527721	G	T	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	c.1660C>A	p.P554T	non-syn	NA	-	-	lod=170:518	TOLERATED	D	-	het	1
17	15	43527721	G	T	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	c.1414C>A	p.P472T	non-syn	NA	-	-	lod=170:518	TOLERATED	D	-	het	1
18	15	43527721	G	T	ENST00000396996	ENSG00000104055	43524793	43559055	-	TGM5	-1	-	c.1136C>A	p.P379H	non-syn	NA	-	-	lod=170:518	TOLERATED	D	-	het	1
19	15	43527749	A	C	ENST00000220420	ENSG00000104055	43524793	43559055	ENSP00000220420	TGM5	-1	TGM5_HUMAN	c.1632T>G	p.S544R	non-syn	rs148226418	0.0044	C=0/A=8598;C=13/A=4393;C=13/A=12991	lod=170:518	DAMAGING	D	-	het	1
20	15	43527749	A	C	ENST00000349114	ENSG00000104055	43524793	43559055	ENSP00000220419	TGM5	-1	TGM5_HUMAN	c.1386T>G	p.S462R	non-syn	rs148226418	0.0044	C=0/A=8598;C=13/A=4393;C=13/A=12991	lod=170:518	DAMAGING	D	-	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.

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Transcripts and variants in the surrounding TGM5 15:43524793..43559055 region Gbrowse