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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 ITGB3:

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
ENSG00000259207	ITGB3	0	0	13	ENSG00000259207	ENST00000559488	ENSP00000452786	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) [Source:HGNC Symbol;Acc:6156]	17	45331212	45421658	1	q21.32	45331212	45389182	ITGB3	ITGB3-001	HGNC Symbol	HGNC transcript name	4	43.83	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3690	6156	ITGB3	NM_000212	27509
ENSG00000259753	ITGB3	0	0	13	ENSG00000259753	ENST00000560629	ENSP00000456711	Integrin beta [Source:UniProtKB/TrEMBL;Acc:B4DTY9]	17	45331263	45421658	1	q21.32	45331263	45421658	ITGB3	ITGB3-001	UniProtKB Gene Name	UniProt transcript name	1	43.81	protein_coding	nonsense_mediated_decay	havana	havana	NOVEL	KNOWN	3690	6156			27509

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MSeqDR Master Exome Data Set M1: 147 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	45331221	G	C	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	-	-	5'_UTR	rs117052258	0.1383	-	lod=15:259	-	-	-	hom	4
2	17	45331221	G	C	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	-	-	5'_UTR	rs117052258	0.1383	-	lod=15:259	-	-	-	het	19
3	17	45331221	G	C	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	-	-	5'_UTR	rs117052258	0.1383	-	lod=15:259	-	-	-	hom	4
4	17	45331221	G	C	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	-	-	5'_UTR	rs117052258	0.1383	-	lod=15:259	-	-	-	het	19
5	17	45331223	A	G	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	-	-	5'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
6	17	45331223	A	G	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	-	-	5'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
7	17	45331267	G	A	ENST00000435993	ENSG00000259207	45331212	45421658	ENSP00000407801	ITGB3	1	-	-	-	5'_UTR	rs115600591	0.0516	A=3/G=6985;A=69/G=3271;A=72/G=10256	lod=65:415	DAMAGING	B	-	het	5
8	17	45331267	G	A	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	c.40G>A	p.V14M	non-syn	rs115600591	0.0516	A=3/G=6985;A=69/G=3271;A=72/G=10256	lod=65:415	DAMAGING	B	-	het	5
9	17	45331267	G	A	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	c.40G>A	p.V14M	non-syn	rs115600591	0.0516	A=3/G=6985;A=69/G=3271;A=72/G=10256	lod=65:415	DAMAGING	B	-	het	5
10	17	45331326	G	T	ENST00000435993	ENSG00000259207	45331212	45421658	ENSP00000407801	ITGB3	1	-	-	-	+20bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
11	17	45331326	G	T	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	-	-	+20bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
12	17	45331326	G	T	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	-	-	+20bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
13	17	45360706	C	G	ENST00000435993	ENSG00000259207	45331212	45421658	ENSP00000407801	ITGB3	1	-	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
14	17	45360706	C	G	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
15	17	45360706	C	G	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
16	17	45360730	T	C	ENST00000435993	ENSG00000259207	45331212	45421658	ENSP00000407801	ITGB3	1	-	c.35T>C	p.L12P	non-syn	rs5918	0.11657	C=1305/T=7295;C=470/T=3936;C=1775/T=11231	-	TOLERATED	B	Coronary thrombosis, association with	het	220
17	17	45360730	T	C	ENST00000435993	ENSG00000259207	45331212	45421658	ENSP00000407801	ITGB3	1	-	c.35T>C	p.L12P	non-syn	rs5918	0.11657	C=1305/T=7295;C=470/T=3936;C=1775/T=11231	-	TOLERATED	B	Coronary thrombosis, association with	hom	26
18	17	45360730	T	C	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	c.176T>C	p.L59P	non-syn	rs5918	0.11657	C=1305/T=7295;C=470/T=3936;C=1775/T=11231	-	TOLERATED	B	Coronary thrombosis, association with	het	220
19	17	45360730	T	C	ENST00000559488	ENSG00000259207	45331212	45421658	ENSP00000452786	ITGB3	1	ITB3_HUMAN	c.176T>C	p.L59P	non-syn	rs5918	0.11657	C=1305/T=7295;C=470/T=3936;C=1775/T=11231	-	TOLERATED	B	Coronary thrombosis, association with	hom	26
20	17	45360730	T	C	ENST00000571680	ENSG00000259207	45331212	45421658	ENSP00000461626	ITGB3	1	-	c.176T>C	p.L59P	non-syn	rs5918	0.11657	C=1305/T=7295;C=470/T=3936;C=1775/T=11231	-	TOLERATED	B	Coronary thrombosis, association with	het	220

** 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 ITGB3 17:45331212..45421658 region Gbrowse