MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
PMD-VR_Virtual Registry
Collaboration
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 CLN8:

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
ENSG00000182372	CLN8	1	0	67	ENSG00000182372	ENST00000524258		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) [Source:HGNC Symbol;Acc:2079]	8	1703944	1734738	1	p23.3	1703944	1719460	CLN8	CLN8-002	HGNC Symbol	HGNC transcript name	7	49.11	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	101927714	2079	CLN8		27523

MSeqDR Master Exome Data Set M1: 178 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	8	1707566	A	G	ENST00000517514	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.457A>G	p.N153D	non-syn	rs6558531	0.62928	-	-	-	-	-	hom	1
2	8	1707566	A	G	ENST00000518780	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.406A>G	p.N136D	non-syn	rs6558531	0.62928	-	-	-	-	-	hom	1
3	8	1707591	T	G	ENST00000517514	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.482T>G	p.L161R	non-syn	rs7838456	0.64259	-	-	-	-	-	hom	2
4	8	1707591	T	G	ENST00000518780	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.431T>G	p.L144R	non-syn	rs7838456	0.64259	-	-	-	-	-	hom	2
5	8	1719130	C	T	ENST00000331222	ENSG00000182372	1703944	1734738	ENSP00000328182	CLN8	1	CLN8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	8	1719130	C	T	ENST00000520991	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.156C>T	p.T52T	syn	NA	-	-	-	-	-	-	het	1
7	8	1719130	C	T	ENST00000524258	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.338C>T	p.P113L	non-syn	NA	-	-	-	-	-	-	het	1
8	8	1719176	G	A	ENST00000331222	ENSG00000182372	1703944	1734738	ENSP00000328182	CLN8	1	CLN8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	8	1719176	G	A	ENST00000520991	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.202G>A	p.G68S	non-syn	NA	-	-	-	-	-	-	het	1
10	8	1719176	G	A	ENST00000524258	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.384G>A	p.P128P	syn	NA	-	-	-	-	-	-	het	1
11	8	1719305	G	T	ENST00000331222	ENSG00000182372	1703944	1734738	ENSP00000328182	CLN8	1	CLN8_HUMAN	c.85G>T	p.V29F	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
12	8	1719305	G	T	ENST00000520991	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.331G>T	p.V111F	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
13	8	1719305	G	T	ENST00000524258	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.513G>T	p.W171C	non-syn	NA	-	-	-	DAMAGING	P	-	het	1
14	8	1719427	G	A	ENST00000331222	ENSG00000182372	1703944	1734738	ENSP00000328182	CLN8	1	CLN8_HUMAN	c.207G>A	p.T69T	syn	NA	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=23:304	-	-	-	het	1
15	8	1719427	G	A	ENST00000520991	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.453G>A	p.T151T	syn	NA	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=23:304	-	-	-	het	1
16	8	1719427	G	A	ENST00000524258	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.635G>A	p.R212H	non-syn	NA	-	A=3/G=8597;A=0/G=4406;A=3/G=13003	lod=23:304	-	-	-	het	1
17	8	1719520	G	A	ENST00000331222	ENSG00000182372	1703944	1734738	ENSP00000328182	CLN8	1	CLN8_HUMAN	c.300G>A	p.Q100Q	syn	rs148988002	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=135:493	-	-	-	het	1
18	8	1719520	G	A	ENST00000520991	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.546G>A	p.Q182Q	syn	rs148988002	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=135:493	-	-	-	het	1
19	8	1728557	C	G	ENST00000331222	ENSG00000182372	1703944	1734738	ENSP00000328182	CLN8	1	CLN8_HUMAN	c.685C>G	p.P229A	non-syn	rs150047904	0.0224	G=6/C=8594;G=5/C=4401;G=11/C=12995	lod=16:265	TOLERATED	D	HGMD	het	10
20	8	1728557	C	G	ENST00000519254	ENSG00000182372	1703944	1734738	-	CLN8	1	-	c.204C>G	p.C68W	non-syn	rs150047904	0.0224	G=6/C=8594;G=5/C=4401;G=11/C=12995	lod=16:265	TOLERATED	D	HGMD	het	10

** 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,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding CLN8 8:1703944..1734738 region Gbrowse