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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 ABCC8:

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
ENSG00000006071	ABCC8	1	16	114	ENSG00000006071	ENST00000524561		ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Source:HGNC Symbol;Acc:59]	11	17414432	17498449	-1	p15.1	17424282	17428728	ABCC8	ABCC8-010	HGNC Symbol	HGNC transcript name	19	50.03	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	6833	59	ABCC8		27504

MSeqDR Master Exome Data Set M1: 386 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	11	17414506	C	T	ENST00000302539	ENSG00000006071	17414432	17498449	ENSP00000303960	ABCC8	-1	ABCC8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	11	17414506	C	T	ENST00000389817	ENSG00000006071	17414432	17498449	ENSP00000374467	ABCC8	-1	ABCC8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	11	17414506	C	T	ENST00000526037	ENSG00000006071	17414432	17498449	-	ABCC8	-1	-	c.538G>A	p.G180R	non-syn	NA	-	-	-	-	-	-	het	1
4	11	17414506	C	T	ENST00000531642	ENSG00000006071	17414432	17498449	ENSP00000435378	ABCC8	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	11	17414556	G	A	ENST00000302539	ENSG00000006071	17414432	17498449	ENSP00000303960	ABCC8	-1	ABCC8_HUMAN	c.4731C>T	p.F1577F	syn	rs73419228	0.0368	A=5/G=8581;A=154/G=4246;A=159/G=12827	lod=199:535	-	-	-	het	1
6	11	17414556	G	A	ENST00000389817	ENSG00000006071	17414432	17498449	ENSP00000374467	ABCC8	-1	ABCC8_HUMAN	c.4728C>T	p.F1576F	syn	rs73419228	0.0368	A=5/G=8581;A=154/G=4246;A=159/G=12827	lod=199:535	-	-	-	het	1
7	11	17414556	G	A	ENST00000526037	ENSG00000006071	17414432	17498449	-	ABCC8	-1	-	c.488C>T	p.S163L	non-syn	rs73419228	0.0368	A=5/G=8581;A=154/G=4246;A=159/G=12827	lod=199:535	-	-	-	het	1
8	11	17414556	G	A	ENST00000526168	ENSG00000006071	17414432	17498449	ENSP00000437233	ABCC8	-1	-	-	-	3'_UTR	rs73419228	0.0368	A=5/G=8581;A=154/G=4246;A=159/G=12827	lod=199:535	-	-	-	het	1
9	11	17414556	G	A	ENST00000531642	ENSG00000006071	17414432	17498449	ENSP00000435378	ABCC8	-1	-	-	-	3'_UTR	rs73419228	0.0368	A=5/G=8581;A=154/G=4246;A=159/G=12827	lod=199:535	-	-	-	het	1
10	11	17414570	C	T	ENST00000302539	ENSG00000006071	17414432	17498449	ENSP00000303960	ABCC8	-1	ABCC8_HUMAN	c.4717G>A	p.V1573I	non-syn	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	het	130
11	11	17414570	C	T	ENST00000302539	ENSG00000006071	17414432	17498449	ENSP00000303960	ABCC8	-1	ABCC8_HUMAN	c.4717G>A	p.V1573I	non-syn	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	hom	6
12	11	17414570	C	T	ENST00000389817	ENSG00000006071	17414432	17498449	ENSP00000374467	ABCC8	-1	ABCC8_HUMAN	c.4714G>A	p.V1572I	non-syn	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	het	130
13	11	17414570	C	T	ENST00000389817	ENSG00000006071	17414432	17498449	ENSP00000374467	ABCC8	-1	ABCC8_HUMAN	c.4714G>A	p.V1572I	non-syn	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	hom	6
14	11	17414570	C	T	ENST00000526037	ENSG00000006071	17414432	17498449	-	ABCC8	-1	-	c.474G>A	p.A158A	syn	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	het	130
15	11	17414570	C	T	ENST00000526037	ENSG00000006071	17414432	17498449	-	ABCC8	-1	-	c.474G>A	p.A158A	syn	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	hom	6
16	11	17414570	C	T	ENST00000526168	ENSG00000006071	17414432	17498449	ENSP00000437233	ABCC8	-1	-	-	-	3'_UTR	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	het	130
17	11	17414570	C	T	ENST00000526168	ENSG00000006071	17414432	17498449	ENSP00000437233	ABCC8	-1	-	-	-	3'_UTR	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	hom	6
18	11	17414570	C	T	ENST00000531642	ENSG00000006071	17414432	17498449	ENSP00000435378	ABCC8	-1	-	-	-	3'_UTR	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	het	130
19	11	17414570	C	T	ENST00000531642	ENSG00000006071	17414432	17498449	ENSP00000435378	ABCC8	-1	-	-	-	3'_UTR	rs8192690	0.0551	T=566/C=8020;T=154/C=4246;T=720/C=12266	lod=199:535	TOLERATED	B	-	hom	6
20	11	17414715	T	C	ENST00000525022	ENSG00000006071	17414432	17498449	-	ABCC8	-1	-	c.548A>G	p.Y183C	non-syn	rs1109591	0.3769	C=2925/T=5661;C=1907/T=2493;C=4832/T=8154	-	-	-	-	het	301

** 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 ABCC8 11:17414432..17498449 region Gbrowse