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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 ATXN1:

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
ENSG00000124788	ATXN1	0	0	17	ENSG00000124788	ENST00000244769	ENSP00000244769	ataxin 1 [Source:HGNC Symbol;Acc:10548]	6	16299343	16761722	-1	p22.3	16299343	16761687	ATXN1	ATXN1-001	HGNC Symbol	HGNC transcript name	10	41.86	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6310	10548	ATXN1	NM_000332	27515

MSeqDR Master Exome Data Set M1: 306 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	6	16299445	T	+CAAA	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	lod=3214:832	-	-	-	het	2
2	6	16299445	T	+CAAA	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	lod=3214:832	-	-	-	het	2
3	6	16299607	T	C	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs146557770	0.0044	-	lod=3214:832	-	-	-	het	1
4	6	16299607	T	C	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs146557770	0.0044	-	lod=3214:832	-	-	-	het	1
5	6	16299757	C	T	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs141181980	0.0042	-	lod=3214:832	-	-	-	het	1
6	6	16299757	C	T	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs141181980	0.0042	-	lod=3214:832	-	-	-	het	1
7	6	16299859	A	+CGATTGGAAGTT	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs138233584	-	-	-	-	-	-	het	11
8	6	16299859	A	+CGATTGGAAGTT	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs138233584	-	-	-	-	-	-	het	11
9	6	16299862	G	T	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	6	16299862	G	T	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	6	16299865	G	A	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs188397836	0.00278	-	-	-	-	-	het	10
12	6	16299865	G	A	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs188397836	0.00278	-	-	-	-	-	hom	1
13	6	16299865	G	A	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs188397836	0.00278	-	-	-	-	-	het	10
14	6	16299865	G	A	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs188397836	0.00278	-	-	-	-	-	hom	1
15	6	16300126	C	G	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs185079700	0.0021	-	-	-	-	-	het	4
16	6	16300126	C	G	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	rs185079700	0.0021	-	-	-	-	-	het	4
17	6	16300193	A	C	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	6	16300193	A	C	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	6	16300434	G	A	ENST00000244769	ENSG00000124788	16299343	16761722	ENSP00000244769	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	lod=121:482	-	-	-	hom	1
20	6	16300434	G	A	ENST00000436367	ENSG00000124788	16299343	16761722	ENSP00000416360	ATXN1	-1	ATX1_HUMAN	-	-	3'_UTR	NA	-	-	lod=121:482	-	-	-	hom	1

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Transcripts and variants in the surrounding ATXN1 6:16299343..16761722 region Gbrowse