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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 ITGB4:

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
ENSG00000132470	ITGB4	0	0	12	ENSG00000132470	ENST00000579662	ENSP00000463651	integrin, beta 4 [Source:HGNC Symbol;Acc:6158]	17	73717408	73753899	1	q25.1	73717408	73753685	ITGB4	ITGB4-007	HGNC Symbol	HGNC transcript name	14	57.98	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	3691	6158	ITGB4		27509

MSeqDR Master Exome Data Set M1: 795 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	17	73723280	C	T	ENST00000200181	ENSG00000132470	73717408	73753899	ENSP00000200181	ITGB4	1	ITB4_HUMAN	c.85C>T	p.R29C	non-syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
2	17	73723280	C	T	ENST00000339591	ENSG00000132470	73717408	73753899	ENSP00000344079	ITGB4	1	ITB4_HUMAN	c.85C>T	p.R29C	non-syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
3	17	73723280	C	T	ENST00000449880	ENSG00000132470	73717408	73753899	ENSP00000400217	ITGB4	1	ITB4_HUMAN	c.85C>T	p.R29C	non-syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
4	17	73723280	C	T	ENST00000450894	ENSG00000132470	73717408	73753899	ENSP00000405536	ITGB4	1	ITB4_HUMAN	c.85C>T	p.R29C	non-syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
5	17	73723280	C	T	ENST00000579662	ENSG00000132470	73717408	73753899	ENSP00000463651	ITGB4	1	ITB4_HUMAN	c.85C>T	p.R29C	non-syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
6	17	73723280	C	T	ENST00000580542	ENSG00000132470	73717408	73753899	-	ITGB4	1	-	c.150C>T	p.T50T	syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
7	17	73723280	C	T	ENST00000584558	ENSG00000132470	73717408	73753899	-	ITGB4	1	-	c.85C>T	p.R29C	non-syn	rs138695324	-	T=2/C=8598;T=1/C=4405;T=3/C=13003	lod=59:405	DAMAGING	D	-	het	1
8	17	73723339	C	T	ENST00000200181	ENSG00000132470	73717408	73753899	ENSP00000200181	ITGB4	1	ITB4_HUMAN	c.144C>T	p.C48C	syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
9	17	73723339	C	T	ENST00000339591	ENSG00000132470	73717408	73753899	ENSP00000344079	ITGB4	1	ITB4_HUMAN	c.144C>T	p.C48C	syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
10	17	73723339	C	T	ENST00000449880	ENSG00000132470	73717408	73753899	ENSP00000400217	ITGB4	1	ITB4_HUMAN	c.144C>T	p.C48C	syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
11	17	73723339	C	T	ENST00000450894	ENSG00000132470	73717408	73753899	ENSP00000405536	ITGB4	1	ITB4_HUMAN	c.144C>T	p.C48C	syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
12	17	73723339	C	T	ENST00000579662	ENSG00000132470	73717408	73753899	ENSP00000463651	ITGB4	1	ITB4_HUMAN	c.144C>T	p.C48C	syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
13	17	73723339	C	T	ENST00000580542	ENSG00000132470	73717408	73753899	-	ITGB4	1	-	c.209C>T	p.A70V	non-syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
14	17	73723339	C	T	ENST00000584558	ENSG00000132470	73717408	73753899	-	ITGB4	1	-	c.144C>T	p.C48C	syn	rs150023264	0.0016	T=0/C=8600;T=3/C=4403;T=3/C=13003	lod=63:412	-	-	-	het	1
15	17	73723756	C	T	ENST00000200181	ENSG00000132470	73717408	73753899	ENSP00000200181	ITGB4	1	ITB4_HUMAN	c.289C>T	p.R97W	non-syn	NA	-	T=1/C=8597;T=0/C=4406;T=1/C=13003	-	DAMAGING	P	-	het	1
16	17	73723756	C	T	ENST00000339591	ENSG00000132470	73717408	73753899	ENSP00000344079	ITGB4	1	ITB4_HUMAN	c.289C>T	p.R97W	non-syn	NA	-	T=1/C=8597;T=0/C=4406;T=1/C=13003	-	DAMAGING	P	-	het	1
17	17	73723756	C	T	ENST00000449880	ENSG00000132470	73717408	73753899	ENSP00000400217	ITGB4	1	ITB4_HUMAN	c.289C>T	p.R97W	non-syn	NA	-	T=1/C=8597;T=0/C=4406;T=1/C=13003	-	DAMAGING	P	-	het	1
18	17	73723756	C	T	ENST00000450894	ENSG00000132470	73717408	73753899	ENSP00000405536	ITGB4	1	ITB4_HUMAN	c.289C>T	p.R97W	non-syn	NA	-	T=1/C=8597;T=0/C=4406;T=1/C=13003	-	DAMAGING	P	-	het	1
19	17	73723756	C	T	ENST00000579662	ENSG00000132470	73717408	73753899	ENSP00000463651	ITGB4	1	ITB4_HUMAN	c.289C>T	p.R97W	non-syn	NA	-	T=1/C=8597;T=0/C=4406;T=1/C=13003	-	DAMAGING	P	-	het	1
20	17	73723756	C	T	ENST00000580542	ENSG00000132470	73717408	73753899	-	ITGB4	1	-	c.354C>T	p.C118C	syn	NA	-	T=1/C=8597;T=0/C=4406;T=1/C=13003	-	DAMAGING	P	-	het	1

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Transcripts and variants in the surrounding ITGB4 17:73717408..73753899 region Gbrowse