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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 ATXN7:

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
ENSG00000163635	ATXN7	1	0	7	ENSG00000163635	ENST00000474513	ENSP00000418203	ataxin 7 [Source:HGNC Symbol;Acc:10560]	3	63850233	63989138	1	p14.1	63850233	63898351	ATXN7	ATXN7-002	HGNC Symbol	HGNC transcript name	14	40.77	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	6314	10560	ATXN7		27517

MSeqDR Master Exome Data Set M1: 571 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	3	63898266	G	A	ENST00000295900	ENSG00000163635	63850233	63989138	ENSP00000295900	ATXN7	1	ATX7_HUMAN	-	-	5'_UTR	NA	-	-	lod=832:688	-	-	-	het	1
2	3	63898266	G	A	ENST00000398590	ENSG00000163635	63850233	63989138	ENSP00000381590	ATXN7	1	ATX7_HUMAN	-	-	5'_UTR	NA	-	-	lod=832:688	-	-	-	het	1
3	3	63898266	G	A	ENST00000474112	ENSG00000163635	63850233	63989138	-	ATXN7	1	-	c.545G>A	p.S182N	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
4	3	63898266	G	A	ENST00000474513	ENSG00000163635	63850233	63989138	ENSP00000418203	ATXN7	1	-	-	-	5'_UTR	NA	-	-	lod=832:688	-	-	-	het	1
5	3	63898266	G	A	ENST00000487717	ENSG00000163635	63850233	63989138	ENSP00000420234	ATXN7	1	ATX7_HUMAN	-	-	5'_UTR	NA	-	-	lod=832:688	-	-	-	het	1
6	3	63898350	G	+CC	ENST00000295900	ENSG00000163635	63850233	63989138	ENSP00000295900	ATXN7	1	ATX7_HUMAN	c.76_77insCC	p.A26NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
7	3	63898350	G	+CC	ENST00000398590	ENSG00000163635	63850233	63989138	ENSP00000381590	ATXN7	1	ATX7_HUMAN	c.76_77insCC	p.A26NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
8	3	63898350	G	+CC	ENST00000474112	ENSG00000163635	63850233	63989138	-	ATXN7	1	-	c.629_630insCC	p.R210NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
9	3	63898350	G	+CC	ENST00000474513	ENSG00000163635	63850233	63989138	ENSP00000418203	ATXN7	1	-	c.76_77insCC	p.NA26NA	syn	NA	-	-	lod=832:688	-	-	-	het	1
10	3	63898350	G	+CC	ENST00000487717	ENSG00000163635	63850233	63989138	ENSP00000420234	ATXN7	1	ATX7_HUMAN	c.76_77insCC	p.A26NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
11	3	63898350	G	+CC	ENST00000538065	ENSG00000163635	63850233	63989138	ENSP00000439585	ATXN7	1	ATX7_HUMAN	c.76_77insCC	p.A26NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
12	3	63898356	G	-CC	ENST00000295900	ENSG00000163635	63850233	63989138	ENSP00000295900	ATXN7	1	ATX7_HUMAN	c.83_84del	p.A28NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
13	3	63898356	G	-CC	ENST00000398590	ENSG00000163635	63850233	63989138	ENSP00000381590	ATXN7	1	ATX7_HUMAN	c.83_84del	p.A28NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
14	3	63898356	G	-CC	ENST00000474112	ENSG00000163635	63850233	63989138	-	ATXN7	1	-	c.636_637del	p.R212NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
15	3	63898356	G	-CC	ENST00000487717	ENSG00000163635	63850233	63989138	ENSP00000420234	ATXN7	1	ATX7_HUMAN	c.83_84del	p.A28NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
16	3	63898356	G	-CC	ENST00000538065	ENSG00000163635	63850233	63989138	ENSP00000439585	ATXN7	1	ATX7_HUMAN	c.83_84del	p.A28NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	1
17	3	63898360	G	+GCA	ENST00000295900	ENSG00000163635	63850233	63989138	ENSP00000295900	ATXN7	1	ATX7_HUMAN	c.86_87insGCA	p.R29NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	4
18	3	63898360	G	-GCA	ENST00000295900	ENSG00000163635	63850233	63989138	ENSP00000295900	ATXN7	1	ATX7_HUMAN	c.87_89del	p.R29NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	2
19	3	63898360	G	+GCA	ENST00000398590	ENSG00000163635	63850233	63989138	ENSP00000381590	ATXN7	1	ATX7_HUMAN	c.86_87insGCA	p.R29NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	4
20	3	63898360	G	-GCA	ENST00000398590	ENSG00000163635	63850233	63989138	ENSP00000381590	ATXN7	1	ATX7_HUMAN	c.87_89del	p.R29NA	non-syn	NA	-	-	lod=832:688	-	-	-	het	2

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ATXN7 3:63850233..63989138 region Gbrowse