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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 SLC25A4:

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
ENSG00000151729	SLC25A4	1	102	15	ENSG00000151729	ENST00000281456	ENSP00000281456	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 [Source:HGNC Symbol;Acc:10990]	4	186064395	186071536	1	q35.1	186064395	186071536	SLC25A4	SLC25A4-001	HGNC Symbol	HGNC transcript name	2	46.96	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	291	10990	SLC25A4	NM_001151	27524

MSeqDR Master Exome Data Set M1: 26 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	4	186064409	G	+T	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	4	186064419	C	T	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	-	-	5'_UTR	rs3733651	0.0297	-	-	-	-	-	het	4
3	4	186064443	C	A	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	-	-	5'_UTR	rs183128370	0.0444	-	-	-	-	-	het	5
4	4	186064443	C	A	ENST00000491736	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.12C>A	p.V4V	syn	rs183128370	0.0444	-	-	-	-	-	het	5
5	4	186064443	C	A	ENST00000515584	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.12C>A	p.V4V	syn	rs183128370	0.0444	-	-	-	-	-	het	5
6	4	186064462	C	T	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	-	-	5'_UTR	NA	-	-	lod=13:243	-	-	-	het	1
7	4	186064462	C	T	ENST00000491736	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.31C>T	p.P11S	non-syn	NA	-	-	lod=13:243	-	-	-	het	1
8	4	186064462	C	T	ENST00000515584	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.31C>T	p.P11S	non-syn	NA	-	-	lod=13:243	-	-	-	het	1
9	4	186064502	G	A	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	-	-	5'_UTR	rs3733652	0.0726	A=68/G=6816;A=296/G=3372;A=364/G=10188	-	-	-	-	het	24
10	4	186064502	G	A	ENST00000491736	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.71G>A	p.R24Q	non-syn	rs3733652	0.0726	A=68/G=6816;A=296/G=3372;A=364/G=10188	-	-	-	-	het	24
11	4	186064502	G	A	ENST00000515584	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.71G>A	p.R24Q	non-syn	rs3733652	0.0726	A=68/G=6816;A=296/G=3372;A=364/G=10188	-	-	-	-	het	24
12	4	186066073	C	T	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	c.267C>T	p.F89F	syn	rs148815021	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=613:655	-	-	-	het	1
13	4	186066073	C	T	ENST00000491736	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.362C>T	p.S121L	non-syn	rs148815021	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=613:655	-	-	-	het	1
14	4	186066073	C	T	ENST00000515584	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.362C>T	p.S121L	non-syn	rs148815021	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=613:655	-	-	-	het	1
15	4	186066108	G	A	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	c.302G>A	p.G101E	non-syn	NA	-	C=1/G=8599;C=0/G=4406;C=1/G=13005	lod=613:655	TOLERATED	B	-	het	1
16	4	186066108	G	A	ENST00000491736	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.397G>A	p.G133R	non-syn	NA	-	C=1/G=8599;C=0/G=4406;C=1/G=13005	lod=613:655	TOLERATED	B	-	het	1
17	4	186066108	G	A	ENST00000515584	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.397G>A	p.G133R	non-syn	NA	-	C=1/G=8599;C=0/G=4406;C=1/G=13005	lod=613:655	TOLERATED	B	-	het	1
18	4	186066373	T	C	ENST00000281456	ENSG00000151729	186064395	186071536	ENSP00000281456	SLC25A4	1	ADT1_HUMAN	c.567T>C	p.A189A	syn	rs149101873	0.00564	C=90/T=8510;C=12/T=4394;C=102/T=12904	lod=485:630	-	-	-	het	14
19	4	186066373	T	C	ENST00000491736	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.662T>C	p.L221P	non-syn	rs149101873	0.00564	C=90/T=8510;C=12/T=4394;C=102/T=12904	lod=485:630	-	-	-	het	14
20	4	186066373	T	C	ENST00000515584	ENSG00000151729	186064395	186071536	-	SLC25A4	1	-	c.662T>C	p.L221P	non-syn	rs149101873	0.00564	C=90/T=8510;C=12/T=4394;C=102/T=12904	lod=485:630	-	-	-	het	14

** 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 SLC25A4 4:186064395..186071536 region Gbrowse