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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 SLC39A4:

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
ENSG00000147804	SLC39A4	0	0	7	ENSG00000147804	ENST00000529462		solute carrier family 39 (zinc transporter), member 4 [Source:HGNC Symbol;Acc:17129]	8	145635126	145642279	-1	q24.3	145635779	145638969	SLC39A4	SLC39A4-005	HGNC Symbol	HGNC transcript name	9	61.99	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	55630	17129	SLC39A4		27523
ENSG00000261297	SLC39A4	0	0	7	ENSG00000261297	ENST00000562134		solute carrier family 39 (zinc transporter), member 4 [Source:HGNC Symbol;Acc:17129]	HG243_PATCH	145464645	145471798	-1	q24.3	145464645	145468474	SLC39A4	SLC39A4-009	HGNC Symbol	HGNC transcript name	8	62.01	protein_coding	processed_transcript	havana	havana	KNOWN	KNOWN	55630	17129	SLC39A4		1000057004

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MSeqDR Master Exome Data Set M1: 192 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	145636619	C	G	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.1938G>C	p.T646T	syn	rs2977841	0.6098	-	-	-	-	-	hom	1
2	8	145637148	T	G	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.1409A>C	p.H470P	non-syn	rs4925820	0.4158	-	-	-	-	-	hom	30
3	8	145637148	T	G	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.1409A>C	p.H470P	non-syn	rs4925820	0.4158	-	-	-	-	-	het	16
4	8	145637725	G	A	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.832C>T	p.P278S	non-syn	rs116209522	0.0199	-	-	-	-	-	het	3
5	8	145637936	C	A	ENST00000276833	ENSG00000147804	145635126	145642279	ENSP00000276833	SLC39A4	-1	-	c.1855G>T	p.D619Y	non-syn	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
6	8	145637936	C	A	ENST00000301305	ENSG00000147804	145635126	145642279	ENSP00000301305	SLC39A4	-1	S39A4_HUMAN	c.1930G>T	p.D644Y	non-syn	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
7	8	145637936	C	A	ENST00000527148	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	-	-	+11bp 5'_splice_site	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
8	8	145637936	C	A	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.621G>T	p.M207I	non-syn	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
9	8	145637936	C	A	ENST00000530807	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.360G>T	p.M120I	non-syn	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
10	8	145637936	C	A	ENST00000531013	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.658G>T	p.D220Y	non-syn	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
11	8	145637936	C	A	ENST00000532718	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.530G>T	p.*177L	non-syn	rs200291525	-	A=1/C=8599;A=0/C=4406;A=1/C=13005	-	DAMAGING	P	-	het	2
12	8	145638108	C	T	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.449G>A	p.R150Q	non-syn	rs200139255	0.0016	T=3/C=8597;T=0/C=4406;T=3/C=13003	-	-	-	-	het	4
13	8	145638181	C	T	ENST00000276833	ENSG00000147804	145635126	145642279	ENSP00000276833	SLC39A4	-1	-	c.1702G>A	p.A568T	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
14	8	145638181	C	T	ENST00000301305	ENSG00000147804	145635126	145642279	ENSP00000301305	SLC39A4	-1	S39A4_HUMAN	c.1777G>A	p.A593T	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
15	8	145638181	C	T	ENST00000527148	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.362G>A	p.G121D	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
16	8	145638181	C	T	ENST00000529462	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.376G>A	p.A126T	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
17	8	145638181	C	T	ENST00000530807	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.207G>A	p.W69*	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
18	8	145638181	C	T	ENST00000531013	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.505G>A	p.A169T	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
19	8	145638181	C	T	ENST00000532718	ENSG00000147804	145635126	145642279	-	SLC39A4	-1	-	c.377G>A	p.G126D	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
20	8	145638215	G	A	ENST00000276833	ENSG00000147804	145635126	145642279	ENSP00000276833	SLC39A4	-1	-	c.1668C>T	p.V556V	syn	rs144252108	0.0023	A=4/G=8596;A=8/G=4398;A=12/G=12994	lod=144:500	-	-	-	het	2

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Transcripts and variants in the surrounding SLC39A4 8:145635126..145642279 region Gbrowse