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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 FKRP:

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
ENSG00000181027	FKRP	0	0	59	ENSG00000181027	ENST00000602250	ENSP00000472807	fukutin related protein [Source:HGNC Symbol;Acc:17997]	19	47249303	47280245	1	q13.32	47249315	47258867	FKRP	FKRP-008	HGNC Symbol	HGNC transcript name	27	51.13	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	79147	17997	FKRP		27526

MSeqDR Master Exome Data Set M1: 276 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	19	47249351	A	+GGCCG	ENST00000318584	ENSG00000181027	47249303	47280245	ENSP00000326570	FKRP	1	FKRP_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
2	19	47249351	A	+GGCCG	ENST00000318584	ENSG00000181027	47249303	47280245	ENSP00000326570	FKRP	1	FKRP_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
3	19	47249351	A	+GGCCG	ENST00000391909	ENSG00000181027	47249303	47280245	ENSP00000375776	FKRP	1	FKRP_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
4	19	47249351	A	+GGCCG	ENST00000391909	ENSG00000181027	47249303	47280245	ENSP00000375776	FKRP	1	FKRP_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
5	19	47249351	A	+GGCCG	ENST00000593800	ENSG00000181027	47249303	47280245	ENSP00000471209	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
6	19	47249351	A	+GGCCG	ENST00000593800	ENSG00000181027	47249303	47280245	ENSP00000471209	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
7	19	47249351	A	+GGCCG	ENST00000593875	ENSG00000181027	47249303	47280245	ENSP00000470297	FKRP	1	-	-	-	+8bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
8	19	47249351	A	+GGCCG	ENST00000593875	ENSG00000181027	47249303	47280245	ENSP00000470297	FKRP	1	-	-	-	+8bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
9	19	47249351	A	+GGCCG	ENST00000593995	ENSG00000181027	47249303	47280245	-	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
10	19	47249351	A	+GGCCG	ENST00000593995	ENSG00000181027	47249303	47280245	-	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
11	19	47249351	A	+GGCCG	ENST00000594467	ENSG00000181027	47249303	47280245	ENSP00000471971	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
12	19	47249351	A	+GGCCG	ENST00000594467	ENSG00000181027	47249303	47280245	ENSP00000471971	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
13	19	47249351	A	+GGCCG	ENST00000595570	ENSG00000181027	47249303	47280245	ENSP00000470929	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
14	19	47249351	A	+GGCCG	ENST00000595570	ENSG00000181027	47249303	47280245	ENSP00000470929	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
15	19	47249351	A	+GGCCG	ENST00000595868	ENSG00000181027	47249303	47280245	ENSP00000471573	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
16	19	47249351	A	+GGCCG	ENST00000595868	ENSG00000181027	47249303	47280245	ENSP00000471573	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
17	19	47249351	A	+GGCCG	ENST00000596460	ENSG00000181027	47249303	47280245	ENSP00000469373	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
18	19	47249351	A	+GGCCG	ENST00000596460	ENSG00000181027	47249303	47280245	ENSP00000469373	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78
19	19	47249351	A	+GGCCG	ENST00000596974	ENSG00000181027	47249303	47280245	-	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	hom	1
20	19	47249351	A	+GGCCG	ENST00000596974	ENSG00000181027	47249303	47280245	-	FKRP	1	-	-	-	+4bp 5'_splice_site	NA	-	-	lod=97:458	-	-	-	het	78

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding FKRP 19:47249303..47280245 region Gbrowse