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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 ATXN3:

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
ENSG00000066427	ATXN3	0	0	13	ENSG00000066427	ENST00000526872	ENSP00000474067	ataxin 3 [Source:HGNC Symbol;Acc:7106]	14	92524896	92572965	-1	q32.12	92548687	92563182	ATXN3	ATXN3-014	HGNC Symbol	HGNC transcript name	47	41.5	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	4287	7106	ATXN3		27520

MSeqDR Master Exome Data Set M1: 1012 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	14	92527297	C	T	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	rs112586446	0.07143	-	-	-	-	-	het	6
2	14	92527297	C	T	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	rs112586446	0.07143	-	-	-	-	-	hom	1
3	14	92527297	C	T	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	rs112586446	0.07143	-	-	-	-	-	het	6
4	14	92527297	C	T	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	rs112586446	0.07143	-	-	-	-	-	hom	1
5	14	92527297	C	T	ENST00000545170	ENSG00000066427	92524896	92572965	ENSP00000445618	ATXN3	-1	-	-	-	3'_UTR	rs112586446	0.07143	-	-	-	-	-	het	6
6	14	92527297	C	T	ENST00000545170	ENSG00000066427	92524896	92572965	ENSP00000445618	ATXN3	-1	-	-	-	3'_UTR	rs112586446	0.07143	-	-	-	-	-	hom	1
7	14	92527399	A	G	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	rs1055996	0.2376	-	-	-	-	-	het	75
8	14	92527399	A	G	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	rs1055996	0.2376	-	-	-	-	-	hom	11
9	14	92527399	A	G	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	rs1055996	0.2376	-	-	-	-	-	het	75
10	14	92527399	A	G	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	rs1055996	0.2376	-	-	-	-	-	hom	11
11	14	92527399	A	G	ENST00000545170	ENSG00000066427	92524896	92572965	ENSP00000445618	ATXN3	-1	-	-	-	3'_UTR	rs1055996	0.2376	-	-	-	-	-	het	75
12	14	92527399	A	G	ENST00000545170	ENSG00000066427	92524896	92572965	ENSP00000445618	ATXN3	-1	-	-	-	3'_UTR	rs1055996	0.2376	-	-	-	-	-	hom	11
13	14	92527491	C	A	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	14	92527491	C	A	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	14	92527491	C	A	ENST00000545170	ENSG00000066427	92524896	92572965	ENSP00000445618	ATXN3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	14	92527977	T	C	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	rs11628764	0.32601	-	-	-	-	-	hom	17
17	14	92527977	T	C	ENST00000393287	ENSG00000066427	92524896	92572965	ENSP00000376965	ATXN3	-1	ATX3_HUMAN	-	-	3'_UTR	rs11628764	0.32601	-	-	-	-	-	het	75
18	14	92527977	T	C	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	rs11628764	0.32601	-	-	-	-	-	hom	17
19	14	92527977	T	C	ENST00000429774	ENSG00000066427	92524896	92572965	ENSP00000389376	ATXN3	-1	-	-	-	3'_UTR	rs11628764	0.32601	-	-	-	-	-	het	75
20	14	92527977	T	C	ENST00000545170	ENSG00000066427	92524896	92572965	ENSP00000445618	ATXN3	-1	-	-	-	3'_UTR	rs11628764	0.32601	-	-	-	-	-	hom	17

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Transcripts and variants in the surrounding ATXN3 14:92524896..92572965 region Gbrowse