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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 ZEB1:

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
ENSG00000148516	ZEB1	0	0	3	ENSG00000148516	ENST00000493835		zinc finger E-box binding homeobox 1 [Source:HGNC Symbol;Acc:11642]	10	31607424	31818742	1	p11.22	31644073	31750165	ZEB1	ZEB1-006	HGNC Symbol	HGNC transcript name	26	36.04	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	6935	11642	ZEB1		27525

MSeqDR Master Exome Data Set M1: 641 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	10	31608107	G	-AA	ENST00000320985	ENSG00000148516	31607424	31818742	ENSP00000319248	ZEB1	1	ZEB1_HUMAN	-	-	5'_UTR	NA	-	-	lod=1196:727	-	-	-	hom	1
2	10	31608107	G	-AA	ENST00000361642	ENSG00000148516	31607424	31818742	ENSP00000354487	ZEB1	1	ZEB1_HUMAN	-	-	5'_UTR	NA	-	-	lod=1196:727	-	-	-	hom	1
3	10	31608180	G	A	ENST00000320985	ENSG00000148516	31607424	31818742	ENSP00000319248	ZEB1	1	ZEB1_HUMAN	c.17G>A	p.R6K	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
4	10	31608180	G	A	ENST00000361642	ENSG00000148516	31607424	31818742	ENSP00000354487	ZEB1	1	ZEB1_HUMAN	c.17G>A	p.R6K	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
5	10	31608180	G	A	ENST00000424869	ENSG00000148516	31607424	31818742	ENSP00000415961	ZEB1	1	-	c.17G>A	p.R6K	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
6	10	31608180	G	A	ENST00000437844	ENSG00000148516	31607424	31818742	ENSP00000405958	ZEB1	1	-	-	-	5'_UTR	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
7	10	31608180	G	A	ENST00000483752	ENSG00000148516	31607424	31818742	-	ZEB1	1	-	c.40G>A	p.G14S	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
8	10	31608180	G	A	ENST00000542815	ENSG00000148516	31607424	31818742	ENSP00000444891	ZEB1	1	-	c.17G>A	p.R6K	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
9	10	31608180	G	A	ENST00000558440	ENSG00000148516	31607424	31818742	ENSP00000453970	ZEB1	1	-	c.17G>A	p.R6K	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
10	10	31608180	G	A	ENST00000559858	ENSG00000148516	31607424	31818742	ENSP00000453568	ZEB1	1	-	-	-	5'_UTR	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
11	10	31608180	G	A	ENST00000560721	ENSG00000148516	31607424	31818742	ENSP00000452787	ZEB1	1	-	c.17G>A	p.R6K	non-syn	NA	-	-	lod=1196:727	DAMAGING	D	-	het	3
12	10	31608233	A	C	ENST00000320985	ENSG00000148516	31607424	31818742	ENSP00000319248	ZEB1	1	ZEB1_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
13	10	31608233	A	C	ENST00000361642	ENSG00000148516	31607424	31818742	ENSP00000354487	ZEB1	1	ZEB1_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
14	10	31608233	A	C	ENST00000424869	ENSG00000148516	31607424	31818742	ENSP00000415961	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
15	10	31608233	A	C	ENST00000437844	ENSG00000148516	31607424	31818742	ENSP00000405958	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
16	10	31608233	A	C	ENST00000483752	ENSG00000148516	31607424	31818742	-	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
17	10	31608233	A	C	ENST00000542815	ENSG00000148516	31607424	31818742	ENSP00000444891	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
18	10	31608233	A	C	ENST00000558440	ENSG00000148516	31607424	31818742	ENSP00000453970	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
19	10	31608233	A	C	ENST00000559858	ENSG00000148516	31607424	31818742	ENSP00000453568	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1
20	10	31608233	A	C	ENST00000560721	ENSG00000148516	31607424	31818742	ENSP00000452787	ZEB1	1	-	-	-	+12bp 5'_splice_site	NA	-	-	lod=1196:727	-	-	-	het	1

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Transcripts and variants in the surrounding ZEB1 10:31607424..31818742 region Gbrowse