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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 EXOSC8:

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
ENSG00000120699	EXOSC8	0	0	3	ENSG00000120699	ENST00000489088		exosome component 8 [Source:HGNC Symbol;Acc:17035]	13	37572953	37583750	1	q13.3	37572953	37580290	EXOSC8	EXOSC8-004	HGNC Symbol	HGNC transcript name	11	40.36	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	11340	17035	EXOSC8		27513

MSeqDR Master Exome Data Set M1: 123 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	13	37573219	C	A	ENST00000489088	ENSG00000120699	37572953	37583750	-	EXOSC8	1	-	c.267C>A	p.L89L	syn	rs112532619	0.052	-	-	-	-	-	het	8
2	13	37573219	C	A	ENST00000489088	ENSG00000120699	37572953	37583750	-	EXOSC8	1	-	c.267C>A	p.L89L	syn	rs112532619	0.052	-	-	-	-	-	hom	2
3	13	37574681	C	T	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	rs7334233	0.90716	-	-	-	-	-	het	102
4	13	37574681	C	T	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	rs7334233	0.90716	-	-	-	-	-	hom	558
5	13	37574708	G	A	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	rs9603126	0.44157	-	-	-	-	-	het	301
6	13	37574708	G	A	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	rs9603126	0.44157	-	-	-	-	-	hom	133
7	13	37574714	C	T	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	rs9547715	0.89403	-	-	-	-	-	het	116
8	13	37574714	C	T	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	rs9547715	0.89403	-	-	-	-	-	hom	546
9	13	37574718	C	G	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	13	37574797	G	-C	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	13	37574809	C	G	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
12	13	37574901	G	T	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	-	-	5'_UTR	NA	-	T=0/G=8470;T=3/G=4331;T=3/G=12801	-	-	-	-	het	2
13	13	37574955	T	C	ENST00000239893	ENSG00000120699	37572953	37583750	ENSP00000239893	EXOSC8	1	-	c.13T>C	p.F5L	non-syn	rs200881798	-	-	lod=105:467	DAMAGING	D	-	het	2
14	13	37574955	T	C	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	c.13T>C	p.F5L	non-syn	rs200881798	-	-	lod=105:467	DAMAGING	D	-	het	2
15	13	37574955	T	C	ENST00000474661	ENSG00000120699	37572953	37583750	-	EXOSC8	1	-	c.33T>C	p.G11G	syn	rs200881798	-	-	lod=105:467	DAMAGING	D	-	het	2
16	13	37574955	T	C	ENST00000490537	ENSG00000120699	37572953	37583750	-	EXOSC8	1	-	c.32T>C	p.V11A	non-syn	rs200881798	-	-	lod=105:467	DAMAGING	D	-	het	2
17	13	37574957	C	G	ENST00000239893	ENSG00000120699	37572953	37583750	ENSP00000239893	EXOSC8	1	-	c.15C>G	p.F5L	non-syn	NA	-	G=1/C=8557;G=0/C=4384;G=1/C=12941	lod=105:467	DAMAGING	D	-	het	1
18	13	37574957	C	G	ENST00000389704	ENSG00000120699	37572953	37583750	ENSP00000374354	EXOSC8	1	EXOS8_HUMAN	c.15C>G	p.F5L	non-syn	NA	-	G=1/C=8557;G=0/C=4384;G=1/C=12941	lod=105:467	DAMAGING	D	-	het	1
19	13	37574957	C	G	ENST00000474661	ENSG00000120699	37572953	37583750	-	EXOSC8	1	-	c.35C>G	p.S12*	non-syn	NA	-	G=1/C=8557;G=0/C=4384;G=1/C=12941	lod=105:467	DAMAGING	D	-	het	1
20	13	37574957	C	G	ENST00000490537	ENSG00000120699	37572953	37583750	-	EXOSC8	1	-	c.34C>G	p.Q12E	non-syn	NA	-	G=1/C=8557;G=0/C=4384;G=1/C=12941	lod=105:467	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.

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 EXOSC8 13:37572953..37583750 region Gbrowse