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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 SLC38A8:

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
ENSG00000166558	SLC38A8	0	0	7	ENSG00000166558	ENST00000568003		solute carrier family 38, member 8 [Source:HGNC Symbol;Acc:32434]	16	84043272	84076241	-1	q23.3	84043272	84050361	SLC38A8	SLC38A8-004	HGNC Symbol	HGNC transcript name	4	52.85	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	146167	32434	SLC38A8		27514

MSeqDR Master Exome Data Set M1: 114 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	84043296	G	T	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.477C>A	p.S159S	syn	rs113690446	0.03372	-	-	-	-	-	hom	5
2	16	84043296	G	T	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.477C>A	p.S159S	syn	rs113690446	0.03372	-	-	-	-	-	het	22
3	16	84043343	G	A	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.430C>T	p.L144L	syn	rs79191732	0.0197	A=2/G=8596;A=177/G=4221;A=179/G=12817	-	-	-	-	het	2
4	16	84043380	A	G	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.393T>C	p.A131A	syn	rs7196330	0.4211	G=1349/A=7251;G=2324/A=2076;G=3673/A=9327	-	-	-	-	het	216
5	16	84043380	A	G	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.393T>C	p.A131A	syn	rs7196330	0.4211	G=1349/A=7251;G=2324/A=2076;G=3673/A=9327	-	-	-	-	hom	29
6	16	84046590	T	C	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
7	16	84046590	T	C	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
8	16	84046597	G	A	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	-	-	+9bp 5'_splice_site	rs199825635	-	A=2/G=8598;A=0/G=4400;A=2/G=12998	-	-	-	-	het	1
9	16	84046597	G	A	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	-	-	+9bp 5'_splice_site	rs199825635	-	A=2/G=8598;A=0/G=4400;A=2/G=12998	-	-	-	-	het	1
10	16	84046657	C	T	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	c.1163G>A	p.G388D	non-syn	NA	-	-	lod=78:435	DAMAGING	D	-	het	2
11	16	84046657	C	T	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.239G>A	p.G80D	non-syn	NA	-	-	lod=78:435	DAMAGING	D	-	het	2
12	16	84046677	A	-C	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	-	-	-20bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
13	16	84046677	A	-C	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	-	-	-20bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
14	16	84050127	G	A	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	c.1159C>T	p.P387S	non-syn	NA	-	-	lod=207:539	DAMAGING	D	-	het	1
15	16	84050127	G	A	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.235C>T	p.P79S	non-syn	NA	-	-	lod=207:539	DAMAGING	D	-	het	1
16	16	84050173	G	A	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	c.1113C>T	p.I371I	syn	rs113073498	-	A=2/G=8598;A=27/G=4373;A=29/G=12971	lod=33:343	-	-	-	het	1
17	16	84050173	G	A	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.189C>T	p.I63I	syn	rs113073498	-	A=2/G=8598;A=27/G=4373;A=29/G=12971	lod=33:343	-	-	-	het	1
18	16	84050178	C	T	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	c.1108G>A	p.E370K	non-syn	rs149742482	-	T=2/C=8598;T=0/C=4400;T=2/C=12998	-	TOLERATED	B	-	het	1
19	16	84050178	C	T	ENST00000568003	ENSG00000166558	84043272	84076241	-	SLC38A8	-1	-	c.184G>A	p.E62K	non-syn	rs149742482	-	T=2/C=8598;T=0/C=4400;T=2/C=12998	-	TOLERATED	B	-	het	1
20	16	84050209	G	A	ENST00000299709	ENSG00000166558	84043272	84076241	ENSP00000299709	SLC38A8	-1	S38A8_HUMAN	c.1077C>T	p.L359L	syn	rs77876966	0.0674	A=467/G=8133;A=131/G=4269;A=598/G=12402	lod=16:265	-	-	-	het	80

** 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 SLC38A8 16:84043272..84076241 region Gbrowse