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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 CYLD:

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
ENSG00000083799	CYLD	0	0	9	ENSG00000083799	ENST00000398568	ENSP00000381574	cylindromatosis (turban tumor syndrome) [Source:HGNC Symbol;Acc:2584]	16	50775961	50835846	1	q12.1	50776031	50830793	CYLD	CYLD-005	HGNC Symbol	HGNC transcript name	17	36.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1540	2584	CYLD	NM_001042412	27514

MSeqDR Master Exome Data Set M1: 127 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	50785735	A	G	ENST00000311559	ENSG00000083799	50775961	50835846	ENSP00000308928	CYLD	1	CYLD_HUMAN	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
2	16	50785735	A	G	ENST00000398568	ENSG00000083799	50775961	50835846	ENSP00000381574	CYLD	1	CYLD_HUMAN	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
3	16	50785735	A	G	ENST00000427738	ENSG00000083799	50775961	50835846	ENSP00000392025	CYLD	1	CYLD_HUMAN	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
4	16	50785735	A	G	ENST00000540145	ENSG00000083799	50775961	50835846	ENSP00000445447	CYLD	1	-	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
5	16	50785735	A	G	ENST00000563629	ENSG00000083799	50775961	50835846	-	CYLD	1	-	c.461A>G	p.E154G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
6	16	50785735	A	G	ENST00000564326	ENSG00000083799	50775961	50835846	ENSP00000454515	CYLD	1	CYLD_HUMAN	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
7	16	50785735	A	G	ENST00000566206	ENSG00000083799	50775961	50835846	ENSP00000462134	CYLD	1	-	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
8	16	50785735	A	G	ENST00000566679	ENSG00000083799	50775961	50835846	ENSP00000456912	CYLD	1	-	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
9	16	50785735	A	G	ENST00000568704	ENSG00000083799	50775961	50835846	ENSP00000456488	CYLD	1	-	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
10	16	50785735	A	G	ENST00000569418	ENSG00000083799	50775961	50835846	ENSP00000457576	CYLD	1	CYLD_HUMAN	c.725A>G	p.E242G	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
11	16	50785735	A	G	ENST00000569891	ENSG00000083799	50775961	50835846	-	CYLD	1	-	c.1120A>G	p.K374E	non-syn	NA	-	-	lod=800:684	DAMAGING	D	-	het	2
12	16	50811964	G	A	ENST00000563976	ENSG00000083799	50775961	50835846	-	CYLD	1	-	c.306G>A	p.P102P	syn	rs16948813	0.3158	-	-	-	-	-	het	4
13	16	50813919	A	G	ENST00000311559	ENSG00000083799	50775961	50835846	ENSP00000308928	CYLD	1	CYLD_HUMAN	c.1482A>G	p.P494P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
14	16	50813919	A	G	ENST00000398568	ENSG00000083799	50775961	50835846	ENSP00000381574	CYLD	1	CYLD_HUMAN	c.1473A>G	p.P491P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
15	16	50813919	A	G	ENST00000427738	ENSG00000083799	50775961	50835846	ENSP00000392025	CYLD	1	CYLD_HUMAN	c.1482A>G	p.P494P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
16	16	50813919	A	G	ENST00000540145	ENSG00000083799	50775961	50835846	ENSP00000445447	CYLD	1	-	c.1482A>G	p.P494P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
17	16	50813919	A	G	ENST00000563629	ENSG00000083799	50775961	50835846	-	CYLD	1	-	c.1209A>G	p.P403P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
18	16	50813919	A	G	ENST00000564326	ENSG00000083799	50775961	50835846	ENSP00000454515	CYLD	1	CYLD_HUMAN	c.1473A>G	p.P491P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
19	16	50813919	A	G	ENST00000566206	ENSG00000083799	50775961	50835846	ENSP00000462134	CYLD	1	-	c.1473A>G	p.P491P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	het	1
20	16	50813919	A	G	ENST00000569418	ENSG00000083799	50775961	50835846	ENSP00000457576	CYLD	1	CYLD_HUMAN	c.1473A>G	p.P491P	syn	NA	-	G=2/A=8298;G=1/A=3891;G=3/A=12189	lod=336:591	-	-	-	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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CYLD 16:50775961..50835846 region Gbrowse