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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 FBN1:

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
ENSG00000166147	FBN1	0	0	714	ENSG00000166147	ENST00000316623	ENSP00000325527	fibrillin 1 [Source:HGNC Symbol;Acc:3603]	15	48700503	48938046	-1	q21.1	48700503	48938046	FBN1	FBN1-001	HGNC Symbol	HGNC transcript name	8	38.92	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2200	3603	FBN1	NM_000138	27521

MSeqDR Master Exome Data Set M1: 256 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	15	48700802	T	C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	15	48701029	C	T	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs11070641	0.77704	-	lod=488:631	-	-	-	hom	100
3	15	48701029	C	T	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs11070641	0.77704	-	lod=488:631	-	-	-	het	78
4	15	48701096	C	T	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	lod=488:631	-	-	-	het	1
5	15	48701147	A	G	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs73390272	0.0576	-	-	-	-	-	het	9
6	15	48701198	G	A	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs56194244	0.0128	-	-	-	-	-	het	7
7	15	48701228	C	T	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs12050562	0.1688	-	-	-	-	-	het	3
8	15	48701608	G	A	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	15	48701612	A	C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs4775760	0.75376	-	-	-	-	-	hom	101
10	15	48701612	A	C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs4775760	0.75376	-	-	-	-	-	het	77
11	15	48701625	C	A	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs78442438	0.0526	-	-	-	-	-	het	9
12	15	48701703	G	A	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	15	48701819	T	C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs77212138	0.0522	-	lod=25:313	-	-	-	het	5
14	15	48701846	G	A	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	lod=35:349	-	-	-	het	3
15	15	48701889	G	C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs143446014	0.00184	-	-	-	-	-	het	3
16	15	48701985	G	C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	15	48702103	A	G	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs3803350	0.0499	-	-	-	-	-	het	3
18	15	48702226	G	-C	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	15	48702320	C	A	ENST00000316623	ENSG00000166147	48700503	48938046	ENSP00000325527	FBN1	-1	FBN1_HUMAN	-	-	3'_UTR	rs189749406	0.0174	-	lod=405:611	-	-	-	het	5
20	15	48702320	C	A	ENST00000559133	ENSG00000166147	48700503	48938046	ENSP00000453958	FBN1	-1	-	-	-	3'_UTR	rs189749406	0.0174	-	lod=405:611	-	-	-	het	5

** 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 FBN1 15:48700503..48938046 region Gbrowse