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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 EXT1:

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
ENSG00000182197	EXT1	0	0	18	ENSG00000182197	ENST00000378204	ENSP00000367446	exostosin glycosyltransferase 1 [Source:HGNC Symbol;Acc:3512]	8	118806729	119124092	-1	q24.11	118806729	119124092	EXT1	EXT1-001	HGNC Symbol	HGNC transcript name	3	41.16	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2131	3512	EXT1	NM_000127	27523

MSeqDR Master Exome Data Set M1: 155 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	118806758	C	+A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs149709644	-	-	lod=129:489	-	-	-	het	3
2	8	118806758	C	-T	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=129:489	-	-	-	het	4
3	8	118806907	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=13:243	-	-	-	het	3
4	8	118806938	C	T	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	8	118807084	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=72:426	-	-	-	het	1
6	8	118807152	T	C	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	lod=98:459	-	-	-	het	2
7	8	118807266	T	-AGG	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	8	118807350	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs76555305	0.05393	-	-	-	-	-	het	20
9	8	118807600	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	8	118807603	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	8	118807606	T	C	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	8	118807680	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	8	118807700	T	C	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs28461380	0.2021	-	-	-	-	-	het	14
14	8	118807721	C	+T	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs10624163	-	-	-	-	-	-	het	185
15	8	118807721	C	+T	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs10624163	-	-	-	-	-	-	hom	2
16	8	118807721	C	+TT	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs10624163	-	-	-	-	-	-	het	12
17	8	118807959	C	T	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs4876755	0.0505	-	-	-	-	-	hom	1
18	8	118807959	C	T	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs4876755	0.0505	-	-	-	-	-	het	19
19	8	118808019	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs190284099	0.003	-	-	-	-	-	het	1
20	8	118808060	G	A	ENST00000378204	ENSG00000182197	118806729	119124092	ENSP00000367446	EXT1	-1	EXT1_HUMAN	-	-	3'_UTR	rs114271107	0.0734	-	-	-	-	-	het	4

** 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 EXT1 8:118806729..119124092 region Gbrowse