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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 GLI3:

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
ENSG00000106571	GLI3	0	0	51	ENSG00000106571	ENST00000395925	ENSP00000379258	GLI family zinc finger 3 [Source:HGNC Symbol;Acc:4319]	7	42000548	42277469	-1	p14.1	42000548	42276612	GLI3	GLI3-001	HGNC Symbol	HGNC transcript name	6	41.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2737	4319	GLI3	NM_000168	27506

MSeqDR Master Exome Data Set M1: 231 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	7	42000586	A	+T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs138425063	-	-	lod=210:541	-	-	-	het	204
2	7	42000586	A	+T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs138425063	-	-	lod=210:541	-	-	-	hom	10
3	7	42000619	G	T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	lod=195:533	-	-	-	het	1
4	7	42000666	T	C	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs73096902	0.0264	-	-	-	-	-	het	13
5	7	42000809	T	+A	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	lod=160:512	-	-	-	het	3
6	7	42000920	A	-AC	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	4
7	7	42000924	C	T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs3735361	0.4897	-	lod=15:259	-	-	-	het	272
8	7	42000924	C	T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs3735361	0.4897	-	lod=15:259	-	-	-	hom	71
9	7	42001171	G	A	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs3823720	0.29837	-	-	-	-	-	het	294
10	7	42001171	G	A	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs3823720	0.29837	-	-	-	-	-	hom	56
11	7	42001213	C	T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs193192167	0.00636	-	-	-	-	-	het	5
12	7	42001227	G	-GCAGGATGGT	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	7	42001262	C	T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs117987369	0.00282	-	-	-	-	-	het	1
14	7	42001308	G	C	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs56158069	-	-	-	-	-	-	het	2
15	7	42001411	C	T	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	7	42001457	T	C	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	7	42001569	T	+A	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
18	7	42001569	T	-A	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	rs144064690	-	-	-	-	-	-	het	33
19	7	42001585	T	G	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	0.0086	-	-	-	-	-	het	2
20	7	42001648	G	-ACA	ENST00000395925	ENSG00000106571	42000548	42277469	ENSP00000379258	GLI3	-1	GLI3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding GLI3 7:42000548..42277469 region Gbrowse