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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 ITGA6:

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
ENSG00000091409	ITGA6	0	0	1	ENSG00000091409	ENST00000412899	ENSP00000413470	integrin, alpha 6 [Source:HGNC Symbol;Acc:6142]	2	173292082	173371181	1	q31.1	173292082	173339705	ITGA6	ITGA6-002	HGNC Symbol	HGNC transcript name	14	41.78	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	3655	6142	ITGA6		27508

MSeqDR Master Exome Data Set M1: 602 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	2	173292213	G	C	ENST00000409532	ENSG00000091409	173292082	173371181	ENSP00000386614	ITGA6	1	ITA6_HUMAN	-	-	+15bp 5'_splice_site	rs62167766	-	-	-	-	-	-	het	1
2	2	173292213	G	C	ENST00000412899	ENSG00000091409	173292082	173371181	ENSP00000413470	ITGA6	1	-	-	-	+15bp 5'_splice_site	rs62167766	-	-	-	-	-	-	het	1
3	2	173292287	T	+A	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs201590863	-	-	lod=194:532	-	-	-	het	26
4	2	173292287	T	+A	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs201590863	-	-	lod=194:532	-	-	-	hom	4
5	2	173292379	G	A	ENST00000264106	ENSG00000091409	173292082	173371181	ENSP00000264106	ITGA6	1	-	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	het	49
6	2	173292379	G	A	ENST00000264106	ENSG00000091409	173292082	173371181	ENSP00000264106	ITGA6	1	-	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	hom	3
7	2	173292379	G	A	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	het	49
8	2	173292379	G	A	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	hom	3
9	2	173292379	G	A	ENST00000343713	ENSG00000091409	173292082	173371181	ENSP00000341078	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	het	49
10	2	173292379	G	A	ENST00000343713	ENSG00000091409	173292082	173371181	ENSP00000341078	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	hom	3
11	2	173292379	G	A	ENST00000375221	ENSG00000091409	173292082	173371181	ENSP00000364369	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	het	49
12	2	173292379	G	A	ENST00000375221	ENSG00000091409	173292082	173371181	ENSP00000364369	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144682022	0.114	-	lod=69:422	-	-	-	hom	3
13	2	173292395	C	T	ENST00000264106	ENSG00000091409	173292082	173371181	ENSP00000264106	ITGA6	1	-	-	-	5'_UTR	NA	-	-	lod=69:422	-	-	-	het	2
14	2	173292395	C	T	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	NA	-	-	lod=69:422	-	-	-	het	2
15	2	173292395	C	T	ENST00000343713	ENSG00000091409	173292082	173371181	ENSP00000341078	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	NA	-	-	lod=69:422	-	-	-	het	2
16	2	173292395	C	T	ENST00000375221	ENSG00000091409	173292082	173371181	ENSP00000364369	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	NA	-	-	lod=69:422	-	-	-	het	2
17	2	173292503	C	G	ENST00000264106	ENSG00000091409	173292082	173371181	ENSP00000264106	ITGA6	1	-	-	-	5'_UTR	rs144341070	0.0078	G=24/C=8420;G=3/C=4305;G=27/C=12725	lod=12:235	-	-	-	hom	1
18	2	173292503	C	G	ENST00000264106	ENSG00000091409	173292082	173371181	ENSP00000264106	ITGA6	1	-	-	-	5'_UTR	rs144341070	0.0078	G=24/C=8420;G=3/C=4305;G=27/C=12725	lod=12:235	-	-	-	het	11
19	2	173292503	C	G	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144341070	0.0078	G=24/C=8420;G=3/C=4305;G=27/C=12725	lod=12:235	-	-	-	hom	1
20	2	173292503	C	G	ENST00000264107	ENSG00000091409	173292082	173371181	ENSP00000264107	ITGA6	1	ITA6_HUMAN	-	-	5'_UTR	rs144341070	0.0078	G=24/C=8420;G=3/C=4305;G=27/C=12725	lod=12:235	-	-	-	het	11

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Transcripts and variants in the surrounding ITGA6 2:173292082..173371181 region Gbrowse