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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 AGRN:

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
ENSG00000188157	AGRN	0	0	41	ENSG00000188157	ENST00000379370	ENSP00000368678	agrin [Source:HGNC Symbol;Acc:329]	1	955503	991496	1	p36.33	955503	991496	AGRN	AGRN-001	HGNC Symbol	HGNC transcript name	9	65.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	375790	329	AGRN	NM_198576	27511

MSeqDR Master Exome Data Set M1: 371 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	955597	G	T	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	c.45G>T	p.P15P	syn	rs115173026	0.3775	-	lod=27:321	-	-	-	het	41
2	1	955597	G	T	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	c.45G>T	p.P15P	syn	rs115173026	0.3775	-	lod=27:321	-	-	-	hom	13
3	1	955619	G	C	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	c.67G>C	p.V23L	non-syn	rs201073369	-	-	-	TOLERATED	NA	-	het	1
4	1	957568	A	G	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	-	-	-13bp 3'_splice_site	rs115704555	0.0381	G=1/A=8597;G=228/A=4178;G=229/A=12775	-	-	-	-	het	5
5	1	957640	C	T	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	c.261C>T	p.D87D	syn	rs6657048	0.0717	T=117/C=8483;T=296/C=4110;T=413/C=12593	lod=79:436	-	-	-	het	27
6	1	957828	A	C	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	c.449A>C	p.E150A	non-syn	rs149363091	-	C=0/A=8600;C=2/A=4404;C=2/A=13004	lod=511:636	DAMAGING	D	-	het	2
7	1	957847	G	A	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	-	-	+5bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
8	1	969659	G	A	ENST00000477585	ENSG00000188157	955503	991496	-	AGRN	1	-	c.174G>A	p.V58V	syn	rs2710884	0.322	-	lod=27:321	-	-	-	hom	1
9	1	970549	T	-GG	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.304_305del	p.G102NA	non-syn	rs70949545	-	-	-	-	-	-	het	4
10	1	970549	T	-GG	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.304_305del	p.G102NA	non-syn	rs70949545	-	-	-	-	-	-	hom	1
11	1	970549	T	-GGG	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.304_306del	p.G102NA	non-syn	NA	-	-	-	-	-	-	het	7
12	1	970560	G	-GGT	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.315_317del	p.G105NA	non-syn	NA	-	-	-	-	-	-	het	5
13	1	970560	G	-GGT	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.315_317del	p.G105NA	non-syn	NA	-	-	-	-	-	-	hom	2
14	1	970561	G	-GT	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.316_317del	p.V106NA	non-syn	NA	-	-	-	-	-	-	het	96
15	1	970561	G	-GT	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.316_317del	p.V106NA	non-syn	NA	-	-	-	-	-	-	hom	11
16	1	970562	G	-T	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.317_317del	p.V106NA	non-syn	NA	-	-	-	-	-	-	het	129
17	1	970562	G	-T	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.317_317del	p.V106NA	non-syn	NA	-	-	-	-	-	-	hom	3
18	1	970611	G	A	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.365G>A	p.R122K	non-syn	rs200011252	-	A=13/G=8587;A=2/G=4404;A=15/G=12991	-	-	-	-	het	4
19	1	970640	G	A	ENST00000379370	ENSG00000188157	955503	991496	ENSP00000368678	AGRN	1	AGRIN_HUMAN	-	-	-17bp 3'_splice_site	rs202044171	-	A=0/G=8600;A=25/G=4381;A=25/G=12981	-	-	-	-	het	1
20	1	970640	G	A	ENST00000469403	ENSG00000188157	955503	991496	-	AGRN	1	-	c.394G>A	p.D132N	non-syn	rs202044171	-	A=0/G=8600;A=25/G=4381;A=25/G=12981	-	-	-	-	het	1

** 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 AGRN 1:955503..991496 region Gbrowse