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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 FBLN5:

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
ENSG00000140092	FBLN5	0	0	20	ENSG00000140092	ENST00000556961		fibulin 5 [Source:HGNC Symbol;Acc:3602]	14	92335756	92414331	-1	q32.12	92335756	92341160	FBLN5	FBLN5-004	HGNC Symbol	HGNC transcript name	9	47.21	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	PUTATIVE	10516	3602	FBLN5		27520

MSeqDR Master Exome Data Set M1: 131 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	14	92336054	T	C	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	rs17804735	0.02486	-	-	-	-	-	hom	1
2	14	92336054	T	C	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	rs17804735	0.02486	-	-	-	-	-	het	16
3	14	92336054	T	C	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1996A>G	p.R666G	non-syn	rs17804735	0.02486	-	-	-	-	-	hom	1
4	14	92336054	T	C	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1996A>G	p.R666G	non-syn	rs17804735	0.02486	-	-	-	-	-	het	16
5	14	92336239	A	G	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	rs115237925	0.0177	-	lod=33:343	-	-	-	het	6
6	14	92336239	A	G	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1811T>C	p.V604A	non-syn	rs115237925	0.0177	-	lod=33:343	-	-	-	het	6
7	14	92336242	C	T	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	rs79375113	0.0198	-	lod=33:343	-	-	-	het	5
8	14	92336242	C	T	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1808G>A	p.603	syn	rs79375113	0.0198	-	lod=33:343	-	-	-	het	5
9	14	92336471	C	T	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	14	92336471	C	T	ENST00000342058	ENSG00000140092	92335756	92414331	ENSP00000345008	FBLN5	-1	FBLN5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	14	92336471	C	T	ENST00000556154	ENSG00000140092	92335756	92414331	ENSP00000451982	FBLN5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	14	92336471	C	T	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1579G>A	p.G527S	non-syn	NA	-	-	-	-	-	-	het	2
13	14	92336475	C	T	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	14	92336475	C	T	ENST00000342058	ENSG00000140092	92335756	92414331	ENSP00000345008	FBLN5	-1	FBLN5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	14	92336475	C	T	ENST00000556154	ENSG00000140092	92335756	92414331	ENSP00000451982	FBLN5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	14	92336475	C	T	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1575G>A	p.T525T	syn	NA	-	-	-	-	-	-	het	1
17	14	92336485	G	A	ENST00000267620	ENSG00000140092	92335756	92414331	ENSP00000267620	FBLN5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	14	92336485	G	A	ENST00000342058	ENSG00000140092	92335756	92414331	ENSP00000345008	FBLN5	-1	FBLN5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	14	92336485	G	A	ENST00000556154	ENSG00000140092	92335756	92414331	ENSP00000451982	FBLN5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	14	92336485	G	A	ENST00000556961	ENSG00000140092	92335756	92414331	-	FBLN5	-1	-	c.1565C>T	p.A522V	non-syn	NA	-	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding FBLN5 14:92335756..92414331 region Gbrowse