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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 TRAPPC11:

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
ENSG00000168538	TRAPPC11	0	0	2	ENSG00000168538	ENST00000334690	ENSP00000335371	trafficking protein particle complex 11 [Source:HGNC Symbol;Acc:25751]	4	184580420	184634745	1	q35.1	184580420	184634745	TRAPPC11	TRAPPC11-001	HGNC Symbol	HGNC transcript name	10	38.51	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	60684	25751	TRAPPC11	NM_021942	27524

MSeqDR Master Exome Data Set M1: 272 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	4	184580467	G	T	ENST00000334690	ENSG00000168538	184580420	184634745	ENSP00000335371	TRAPPC11	1	TPC11_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	4	184580467	G	T	ENST00000357207	ENSG00000168538	184580420	184634745	ENSP00000349738	TRAPPC11	1	TPC11_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	4	184585015	G	A	ENST00000334690	ENSG00000168538	184580420	184634745	ENSP00000335371	TRAPPC11	1	TPC11_HUMAN	-	-	5'_UTR	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	het	78
4	4	184585015	G	A	ENST00000334690	ENSG00000168538	184580420	184634745	ENSP00000335371	TRAPPC11	1	TPC11_HUMAN	-	-	5'_UTR	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	hom	4
5	4	184585015	G	A	ENST00000357207	ENSG00000168538	184580420	184634745	ENSP00000349738	TRAPPC11	1	TPC11_HUMAN	-	-	5'_UTR	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	het	78
6	4	184585015	G	A	ENST00000357207	ENSG00000168538	184580420	184634745	ENSP00000349738	TRAPPC11	1	TPC11_HUMAN	-	-	5'_UTR	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	hom	4
7	4	184585015	G	A	ENST00000504526	ENSG00000168538	184580420	184634745	-	TRAPPC11	1	-	c.141G>A	p.S47S	syn	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	het	78
8	4	184585015	G	A	ENST00000504526	ENSG00000168538	184580420	184634745	-	TRAPPC11	1	-	c.141G>A	p.S47S	syn	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	hom	4
9	4	184585015	G	A	ENST00000505676	ENSG00000168538	184580420	184634745	ENSP00000422915	TRAPPC11	1	-	-	-	5'_UTR	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	het	78
10	4	184585015	G	A	ENST00000505676	ENSG00000168538	184580420	184634745	ENSP00000422915	TRAPPC11	1	-	-	-	5'_UTR	rs113604435	0.0852	A=266/G=8334;A=421/G=3985;A=687/G=12319	-	-	-	-	hom	4
11	4	184585137	C	G	ENST00000334690	ENSG00000168538	184580420	184634745	ENSP00000335371	TRAPPC11	1	TPC11_HUMAN	c.117C>G	p.A39A	syn	rs145842147	0.0222	-	lod=716:672	-	-	-	het	1
12	4	184585137	C	G	ENST00000357207	ENSG00000168538	184580420	184634745	ENSP00000349738	TRAPPC11	1	TPC11_HUMAN	c.117C>G	p.A39A	syn	rs145842147	0.0222	-	lod=716:672	-	-	-	het	1
13	4	184585137	C	G	ENST00000504526	ENSG00000168538	184580420	184634745	-	TRAPPC11	1	-	c.263C>G	p.P88R	non-syn	rs145842147	0.0222	-	lod=716:672	-	-	-	het	1
14	4	184585137	C	G	ENST00000505676	ENSG00000168538	184580420	184634745	ENSP00000422915	TRAPPC11	1	-	c.117C>G	p.A39A	syn	rs145842147	0.0222	-	lod=716:672	-	-	-	het	1
15	4	184585165	G	C	ENST00000334690	ENSG00000168538	184580420	184634745	ENSP00000335371	TRAPPC11	1	TPC11_HUMAN	c.145G>C	p.V49L	non-syn	rs141909783	0.00933	C=116/G=8484;C=9/G=4397;C=125/G=12881	lod=716:672	TOLERATED	B	-	hom	2
16	4	184585165	G	C	ENST00000334690	ENSG00000168538	184580420	184634745	ENSP00000335371	TRAPPC11	1	TPC11_HUMAN	c.145G>C	p.V49L	non-syn	rs141909783	0.00933	C=116/G=8484;C=9/G=4397;C=125/G=12881	lod=716:672	TOLERATED	B	-	het	54
17	4	184585165	G	C	ENST00000357207	ENSG00000168538	184580420	184634745	ENSP00000349738	TRAPPC11	1	TPC11_HUMAN	c.145G>C	p.V49L	non-syn	rs141909783	0.00933	C=116/G=8484;C=9/G=4397;C=125/G=12881	lod=716:672	TOLERATED	B	-	hom	2
18	4	184585165	G	C	ENST00000357207	ENSG00000168538	184580420	184634745	ENSP00000349738	TRAPPC11	1	TPC11_HUMAN	c.145G>C	p.V49L	non-syn	rs141909783	0.00933	C=116/G=8484;C=9/G=4397;C=125/G=12881	lod=716:672	TOLERATED	B	-	het	54
19	4	184585165	G	C	ENST00000504526	ENSG00000168538	184580420	184634745	-	TRAPPC11	1	-	c.291G>C	p.E97D	non-syn	rs141909783	0.00933	C=116/G=8484;C=9/G=4397;C=125/G=12881	lod=716:672	TOLERATED	B	-	hom	2
20	4	184585165	G	C	ENST00000504526	ENSG00000168538	184580420	184634745	-	TRAPPC11	1	-	c.291G>C	p.E97D	non-syn	rs141909783	0.00933	C=116/G=8484;C=9/G=4397;C=125/G=12881	lod=716:672	TOLERATED	B	-	het	54

** 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 TRAPPC11 4:184580420..184634745 region Gbrowse