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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 GCK:

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
ENSG00000106633	GCK	1	6	142	ENSG00000106633	ENST00000459642		glucokinase (hexokinase 4) [Source:HGNC Symbol;Acc:4195]	7	44183872	44237769	-1	p13	44183872	44185728	GCK	GCK-005	HGNC Symbol	HGNC transcript name	8	49.97	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	2645	4195	GCK		27506

MSeqDR Master Exome Data Set M1: 161 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	44183938	G	A	ENST00000336642	ENSG00000106633	44183872	44237769	ENSP00000338009	GCK	-1	-	-	-	3'_UTR	rs2908276	0.0342	-	-	-	-	-	het	2
2	7	44183938	G	A	ENST00000345378	ENSG00000106633	44183872	44237769	ENSP00000223366	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs2908276	0.0342	-	-	-	-	-	het	2
3	7	44183938	G	A	ENST00000395796	ENSG00000106633	44183872	44237769	ENSP00000379142	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs2908276	0.0342	-	-	-	-	-	het	2
4	7	44183938	G	A	ENST00000403799	ENSG00000106633	44183872	44237769	ENSP00000384247	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs2908276	0.0342	-	-	-	-	-	het	2
5	7	44183938	G	A	ENST00000459642	ENSG00000106633	44183872	44237769	-	GCK	-1	-	c.1575C>T	p.A525A	syn	rs2908276	0.0342	-	-	-	-	-	het	2
6	7	44183971	G	A	ENST00000336642	ENSG00000106633	44183872	44237769	ENSP00000338009	GCK	-1	-	-	-	3'_UTR	rs185418856	0.00095	-	-	-	-	-	het	1
7	7	44183971	G	A	ENST00000345378	ENSG00000106633	44183872	44237769	ENSP00000223366	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs185418856	0.00095	-	-	-	-	-	het	1
8	7	44183971	G	A	ENST00000395796	ENSG00000106633	44183872	44237769	ENSP00000379142	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs185418856	0.00095	-	-	-	-	-	het	1
9	7	44183971	G	A	ENST00000403799	ENSG00000106633	44183872	44237769	ENSP00000384247	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs185418856	0.00095	-	-	-	-	-	het	1
10	7	44183971	G	A	ENST00000459642	ENSG00000106633	44183872	44237769	-	GCK	-1	-	c.1542C>T	p.H514H	syn	rs185418856	0.00095	-	-	-	-	-	het	1
11	7	44183975	T	-G	ENST00000336642	ENSG00000106633	44183872	44237769	ENSP00000338009	GCK	-1	-	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	het	191
12	7	44183975	T	-G	ENST00000336642	ENSG00000106633	44183872	44237769	ENSP00000338009	GCK	-1	-	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	hom	41
13	7	44183975	T	-G	ENST00000345378	ENSG00000106633	44183872	44237769	ENSP00000223366	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	het	191
14	7	44183975	T	-G	ENST00000345378	ENSG00000106633	44183872	44237769	ENSP00000223366	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	hom	41
15	7	44183975	T	-G	ENST00000395796	ENSG00000106633	44183872	44237769	ENSP00000379142	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	het	191
16	7	44183975	T	-G	ENST00000395796	ENSG00000106633	44183872	44237769	ENSP00000379142	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	hom	41
17	7	44183975	T	-G	ENST00000403799	ENSG00000106633	44183872	44237769	ENSP00000384247	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	het	191
18	7	44183975	T	-G	ENST00000403799	ENSG00000106633	44183872	44237769	ENSP00000384247	GCK	-1	HXK4_HUMAN	-	-	3'_UTR	rs55714218	-	-	-	-	-	-	hom	41
19	7	44183975	T	-G	ENST00000459642	ENSG00000106633	44183872	44237769	-	GCK	-1	-	c.1537_1537del	p.Q513NA	non-syn	rs55714218	-	-	-	-	-	-	het	191
20	7	44183975	T	-G	ENST00000459642	ENSG00000106633	44183872	44237769	-	GCK	-1	-	c.1537_1537del	p.Q513NA	non-syn	rs55714218	-	-	-	-	-	-	hom	41

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Transcripts and variants in the surrounding GCK 7:44183872..44237769 region Gbrowse