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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 APTX:

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
ENSG00000137074	APTX	1	25	26	ENSG00000137074	ENST00000494973		aprataxin [Source:HGNC Symbol;Acc:15984]	9	32972604	33025166	-1	p21.1	32987775	33001626	APTX	APTX-029	HGNC Symbol	HGNC transcript name	33	42.68	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	54840	15984	APTX		27518

MSeqDR Master Exome Data Set M1: 872 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	9	32972740	C	T	ENST00000309615	ENSG00000137074	32972604	33025166	ENSP00000311547	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
2	9	32972740	C	T	ENST00000379817	ENSG00000137074	32972604	33025166	ENSP00000369145	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
3	9	32972740	C	T	ENST00000379825	ENSG00000137074	32972604	33025166	ENSP00000369153	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
4	9	32972740	C	T	ENST00000397172	ENSG00000137074	32972604	33025166	ENSP00000380357	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
5	9	32972740	C	T	ENST00000436040	ENSG00000137074	32972604	33025166	ENSP00000400806	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
6	9	32972740	C	T	ENST00000460940	ENSG00000137074	32972604	33025166	ENSP00000418311	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
7	9	32972740	C	T	ENST00000465003	ENSG00000137074	32972604	33025166	ENSP00000419430	APTX	-1	-	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
8	9	32972740	C	T	ENST00000467331	ENSG00000137074	32972604	33025166	ENSP00000418733	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
9	9	32972740	C	T	ENST00000472896	ENSG00000137074	32972604	33025166	ENSP00000417804	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
10	9	32972740	C	T	ENST00000482687	ENSG00000137074	32972604	33025166	ENSP00000419289	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
11	9	32972740	C	T	ENST00000483148	ENSG00000137074	32972604	33025166	ENSP00000419723	APTX	-1	-	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
12	9	32972740	C	T	ENST00000485479	ENSG00000137074	32972604	33025166	ENSP00000418144	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
13	9	32972740	C	T	ENST00000494649	ENSG00000137074	32972604	33025166	ENSP00000417634	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs115295647	0.0185	-	-	-	-	-	het	2
14	9	32973355	C	T	ENST00000309615	ENSG00000137074	32972604	33025166	ENSP00000311547	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3
15	9	32973355	C	T	ENST00000379817	ENSG00000137074	32972604	33025166	ENSP00000369145	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3
16	9	32973355	C	T	ENST00000379819	ENSG00000137074	32972604	33025166	ENSP00000369147	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3
17	9	32973355	C	T	ENST00000379825	ENSG00000137074	32972604	33025166	ENSP00000369153	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3
18	9	32973355	C	T	ENST00000397172	ENSG00000137074	32972604	33025166	ENSP00000380357	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3
19	9	32973355	C	T	ENST00000436040	ENSG00000137074	32972604	33025166	ENSP00000400806	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3
20	9	32973355	C	T	ENST00000460940	ENSG00000137074	32972604	33025166	ENSP00000418311	APTX	-1	APTX_HUMAN	-	-	3'_UTR	rs148292963	0.0042	-	-	-	-	-	het	3

** 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 APTX 9:32972604..33025166 region Gbrowse