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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 LTBP4:

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
ENSG00000090006	LTBP4	0	0	29	ENSG00000090006	ENST00000597603		latent transforming growth factor beta binding protein 4 [Source:HGNC Symbol;Acc:6717]	19	41098789	41135725	1	q13.2	41122816	41129874	LTBP4	LTBP4-032	HGNC Symbol	HGNC transcript name	44	56.47	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	8425	6717	LTBP4		27526

MSeqDR Master Exome Data Set M1: 1382 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	41098871	C	T	ENST00000600026	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.83C>T	p.P28L	non-syn	rs56013937	0.06399	-	-	-	-	-	hom	7
2	19	41098871	C	T	ENST00000600026	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.83C>T	p.P28L	non-syn	rs56013937	0.06399	-	-	-	-	-	het	80
3	19	41098983	G	A	ENST00000600026	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.195G>A	p.P65P	syn	NA	-	-	-	-	-	-	het	1
4	19	41099004	G	T	ENST00000600026	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.216G>T	p.R72S	non-syn	NA	-	-	-	-	-	-	het	1
5	19	41099105	C	T	ENST00000204005	ENSG00000090006	41098789	41135725	ENSP00000204005	LTBP4	1	-	-	-	+18bp 5'_splice_site	NA	-	T=1/C=8233;T=1/C=3807;T=2/C=12040	-	-	-	-	het	1
6	19	41099105	C	T	ENST00000545697	ENSG00000090006	41098789	41135725	ENSP00000441054	LTBP4	1	-	-	-	+18bp 5'_splice_site	NA	-	T=1/C=8233;T=1/C=3807;T=2/C=12040	-	-	-	-	het	1
7	19	41099105	C	T	ENST00000600026	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+18bp 5'_splice_site	NA	-	T=1/C=8233;T=1/C=3807;T=2/C=12040	-	-	-	-	het	1
8	19	41099105	C	T	ENST00000602240	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+18bp 5'_splice_site	NA	-	T=1/C=8233;T=1/C=3807;T=2/C=12040	-	-	-	-	het	1
9	19	41103248	G	A	ENST00000308370	ENSG00000090006	41098789	41135725	ENSP00000311905	LTBP4	1	LTBP4_HUMAN	c.108G>A	p.Q36Q	syn	rs184935788	0.0294	-	lod=37:355	-	-	-	het	2
10	19	41103248	G	A	ENST00000600509	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.108G>A	p.Q36Q	syn	rs184935788	0.0294	-	lod=37:355	-	-	-	het	2
11	19	41105474	G	A	ENST00000204005	ENSG00000090006	41098789	41135725	ENSP00000204005	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
12	19	41105474	G	A	ENST00000308370	ENSG00000090006	41098789	41135725	ENSP00000311905	LTBP4	1	LTBP4_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
13	19	41105474	G	A	ENST00000545697	ENSG00000090006	41098789	41135725	ENSP00000441054	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
14	19	41105474	G	A	ENST00000594537	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
15	19	41105474	G	A	ENST00000599016	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	19	41105474	G	A	ENST00000600026	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
17	19	41105474	G	A	ENST00000600509	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
18	19	41105474	G	A	ENST00000602240	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
19	19	41105760	C	A	ENST00000598717	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.179C>A	p.P60H	non-syn	rs146831875	0.0126	-	-	-	-	-	hom	1
20	19	41105760	C	A	ENST00000598717	ENSG00000090006	41098789	41135725	-	LTBP4	1	-	c.179C>A	p.P60H	non-syn	rs146831875	0.0126	-	-	-	-	-	het	14

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding LTBP4 19:41098789..41135725 region Gbrowse