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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 GRHL3:

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
ENSG00000158055	GRHL3	0	0	2	ENSG00000158055	ENST00000361548	ENSP00000354943	grainyhead-like 3 (Drosophila) [Source:HGNC Symbol;Acc:25839]	1	24645812	24690972	1	p36.11	24645812	24681808	GRHL3	GRHL3-005	HGNC Symbol	HGNC transcript name	10	51	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	57822	25839	GRHL3	NM_198173	27511

MSeqDR Master Exome Data Set M1: 283 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	1	24645854	G	A	ENST00000361548	ENSG00000158055	24645812	24690972	ENSP00000354943	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	rs115551059	0.0055	-	lod=62:410	-	-	-	het	1
2	1	24645896	A	T	ENST00000342072	ENSG00000158055	24645812	24690972	ENSP00000340543	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	NA	-	-	lod=374:602	-	-	-	het	2
3	1	24645896	A	T	ENST00000361548	ENSG00000158055	24645812	24690972	ENSP00000354943	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	NA	-	-	lod=374:602	-	-	-	het	2
4	1	24645951	C	T	ENST00000342072	ENSG00000158055	24645812	24690972	ENSP00000340543	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	NA	-	-	lod=374:602	-	-	-	het	2
5	1	24645951	C	T	ENST00000350501	ENSG00000158055	24645812	24690972	ENSP00000288955	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	NA	-	-	lod=374:602	-	-	-	het	2
6	1	24645951	C	T	ENST00000361548	ENSG00000158055	24645812	24690972	ENSP00000354943	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	NA	-	-	lod=374:602	-	-	-	het	2
7	1	24645951	C	T	ENST00000530984	ENSG00000158055	24645812	24690972	-	GRHL3	1	-	c.6C>T	p.F2F	syn	NA	-	-	lod=374:602	-	-	-	het	2
8	1	24645953	C	T	ENST00000342072	ENSG00000158055	24645812	24690972	ENSP00000340543	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	rs111636681	0.0058	T=0/C=3182;T=13/C=1371;T=13/C=4553	lod=374:602	-	-	-	het	1
9	1	24645953	C	T	ENST00000350501	ENSG00000158055	24645812	24690972	ENSP00000288955	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	rs111636681	0.0058	T=0/C=3182;T=13/C=1371;T=13/C=4553	lod=374:602	-	-	-	het	1
10	1	24645953	C	T	ENST00000361548	ENSG00000158055	24645812	24690972	ENSP00000354943	GRHL3	1	GRHL3_HUMAN	-	-	5'_UTR	rs111636681	0.0058	T=0/C=3182;T=13/C=1371;T=13/C=4553	lod=374:602	-	-	-	het	1
11	1	24645953	C	T	ENST00000530984	ENSG00000158055	24645812	24690972	-	GRHL3	1	-	c.8C>T	p.P3L	non-syn	rs111636681	0.0058	T=0/C=3182;T=13/C=1371;T=13/C=4553	lod=374:602	-	-	-	het	1
12	1	24646069	A	G	ENST00000342072	ENSG00000158055	24645812	24690972	ENSP00000340543	GRHL3	1	GRHL3_HUMAN	-	-	+11bp 5'_splice_site	NA	-	-	lod=187:528	-	-	-	het	1
13	1	24646069	A	G	ENST00000350501	ENSG00000158055	24645812	24690972	ENSP00000288955	GRHL3	1	GRHL3_HUMAN	-	-	+11bp 5'_splice_site	NA	-	-	lod=187:528	-	-	-	het	1
14	1	24646069	A	G	ENST00000356046	ENSG00000158055	24645812	24690972	ENSP00000348333	GRHL3	1	-	-	-	5'_UTR	NA	-	-	lod=187:528	-	-	-	het	1
15	1	24646069	A	G	ENST00000361548	ENSG00000158055	24645812	24690972	ENSP00000354943	GRHL3	1	GRHL3_HUMAN	-	-	+11bp 5'_splice_site	NA	-	-	lod=187:528	-	-	-	het	1
16	1	24646069	A	G	ENST00000530984	ENSG00000158055	24645812	24690972	-	GRHL3	1	-	-	-	+11bp 5'_splice_site	NA	-	-	lod=187:528	-	-	-	het	1
17	1	24646079	A	C	ENST00000356046	ENSG00000158055	24645812	24690972	ENSP00000348333	GRHL3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	40
18	1	24646129	A	G	ENST00000356046	ENSG00000158055	24645812	24690972	ENSP00000348333	GRHL3	1	-	-	-	5'_UTR	NA	-	-	lod=174:521	-	-	-	het	2
19	1	24646237	G	-GTGA	ENST00000356046	ENSG00000158055	24645812	24690972	ENSP00000348333	GRHL3	1	-	-	-	5'_UTR	NA	-	-	lod=99:460	-	-	-	het	2
20	1	24646387	C	A	ENST00000524724	ENSG00000158055	24645812	24690972	ENSP00000431290	GRHL3	1	-	-	-	5'_UTR	rs79338443	0.03918	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding GRHL3 1:24645812..24690972 region Gbrowse