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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 MFSD8:

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
ENSG00000164073	MFSD8	1	0	67	ENSG00000164073	ENST00000296468	ENSP00000296468	major facilitator superfamily domain containing 8 [Source:HGNC Symbol;Acc:28486]	4	128838960	128887150	-1	q28.2	128838960	128887104	MFSD8	MFSD8-001	HGNC Symbol	HGNC transcript name	9	39.21	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	256471	28486	MFSD8	NM_152778	27524

MSeqDR Master Exome Data Set M1: 120 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	128839096	A	G	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs189321020	0.0029	-	-	-	-	-	het	2
2	4	128839268	A	-TCCTT	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	4	128839320	T	C	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs72616968	0.1998	-	-	-	-	-	het	26
4	4	128839320	T	C	ENST00000503928	ENSG00000164073	128838960	128887150	-	MFSD8	-1	-	c.366A>G	p.T122T	syn	rs72616968	0.1998	-	-	-	-	-	het	26
5	4	128839321	G	A	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs114689638	0.0127	-	-	-	-	-	het	1
6	4	128839321	G	A	ENST00000503928	ENSG00000164073	128838960	128887150	-	MFSD8	-1	-	c.365C>T	p.T122I	non-syn	rs114689638	0.0127	-	-	-	-	-	het	1
7	4	128839380	C	T	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs11938181	0.0443	-	-	-	-	-	het	8
8	4	128839380	C	T	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs11938181	0.0443	-	-	-	-	-	hom	1
9	4	128839380	C	T	ENST00000503928	ENSG00000164073	128838960	128887150	-	MFSD8	-1	-	c.306G>A	p.A102A	syn	rs11938181	0.0443	-	-	-	-	-	het	8
10	4	128839380	C	T	ENST00000503928	ENSG00000164073	128838960	128887150	-	MFSD8	-1	-	c.306G>A	p.A102A	syn	rs11938181	0.0443	-	-	-	-	-	hom	1
11	4	128839581	G	-TTAAGT	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs147020536	-	-	-	-	-	-	het	10
12	4	128839686	C	G	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs188459520	0.0014	-	-	-	-	-	het	2
13	4	128839764	G	A	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	4	128839779	T	G	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs181240021	0.00185	-	-	-	-	-	het	1
15	4	128839922	C	T	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	4	128839972	G	+T	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	4	128840256	C	T	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	4	128840505	A	T	ENST00000296468	ENSG00000164073	128838960	128887150	ENSP00000296468	MFSD8	-1	MFSD8_HUMAN	-	-	3'_UTR	rs146441639	0.0056	-	-	-	-	-	het	1
19	4	128840505	A	T	ENST00000503928	ENSG00000164073	128838960	128887150	-	MFSD8	-1	-	-	-	-12bp 3'_splice_site	rs146441639	0.0056	-	-	-	-	-	het	1
20	4	128840505	A	T	ENST00000515130	ENSG00000164073	128838960	128887150	-	MFSD8	-1	-	c.3179T>A	p.L1060Q	non-syn	rs146441639	0.0056	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding MFSD8 4:128838960..128887150 region Gbrowse