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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 ENSG00000011295:

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
ENSG00000011295	TTC19	1	112	22	ENSG00000011295	ENST00000261647	ENSP00000261647	tetratricopeptide repeat domain 19 [Source:HGNC Symbol;Acc:26006]	17	15902694	15948329	1	p12	15902694	15932226	TTC19	TTC19-001	HGNC Symbol	HGNC transcript name	11	41.07	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	54902	26006	TTC19	NM_001271420	27509

MSeqDR Master Exome Data Set M1: 298 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	17	15902711	G	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs61747574	0.0063	-	-	-	-	-	het	2
2	17	15902711	G	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs61747574	0.0063	-	-	-	-	-	hom	1
3	17	15902771	G	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	17	15902816	C	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs60636875	0.1408	A=6/C=7912;A=394/C=3562;A=400/C=11474	-	DAMAGING	NA	-	het	4
5	17	15902816	C	A	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.17C>A	p.T6K	non-syn	rs60636875	0.1408	A=6/C=7912;A=394/C=3562;A=400/C=11474	-	DAMAGING	NA	-	het	4
6	17	15902823	G	C	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs200004394	-	C=2/G=8012;C=0/G=4044;C=2/G=12056	-	-	-	-	het	2
7	17	15902823	G	C	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.24G>C	p.S8S	syn	rs200004394	-	C=2/G=8012;C=0/G=4044;C=2/G=12056	-	-	-	-	het	2
8	17	15902937	G	C	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	17	15902937	G	C	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.138G>C	p.P46P	syn	NA	-	-	-	-	-	-	het	1
10	17	15902968	G	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	NA	-	het	6
11	17	15902968	G	A	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.169G>A	p.A57T	non-syn	NA	-	-	-	DAMAGING	NA	-	het	6
12	17	15902994	C	G	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs73276077	0.0935	G=2/C=8168;G=327/C=3805;G=329/C=11973	-	-	-	-	het	4
13	17	15902994	C	G	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.195C>G	p.P65P	syn	rs73276077	0.0935	G=2/C=8168;G=327/C=3805;G=329/C=11973	-	-	-	-	het	4
14	17	15903056	A	T	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs79724115	0.0417	T=0/A=8104;T=59/A=4041;T=59/A=12145	-	DAMAGING	NA	-	het	1
15	17	15903056	A	T	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.257A>T	p.D86V	non-syn	rs79724115	0.0417	T=0/A=8104;T=59/A=4041;T=59/A=12145	-	DAMAGING	NA	-	het	1
16	17	15903066	C	T	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
17	17	15903066	C	T	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.267C>T	p.L89L	syn	NA	-	-	-	-	-	-	het	2
18	17	15903090	G	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs149555498	0.018	-	-	-	-	-	het	1
19	17	15903090	G	A	ENST00000486880	ENSG00000011295	15902694	15948329	ENSP00000436056	TTC19	1	-	c.291G>A	p.P97P	syn	rs149555498	0.018	-	-	-	-	-	het	1
20	17	15903148	G	A	ENST00000261647	ENSG00000011295	15902694	15948329	ENSP00000261647	TTC19	1	TTC19_HUMAN	-	-	5'_UTR	rs73276080	0.087	A=3/G=7187;A=231/G=3269;A=234/G=10456	lod=18:278	DAMAGING	NA	-	hom	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 TTC19 17:15902694..15948329 region Gbrowse