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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 ENSG00000213689:

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
ENSG00000213689	TREX1	0	0	21	ENSG00000213689	ENST00000395677		three prime repair exonuclease 1 [Source:HGNC Symbol;Acc:12269]	3	48506445	48509044	1	p21.31	48506445	48509044	TREX1	TREX1-001	HGNC Symbol	HGNC transcript name	8	61.38	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	84126	12269	TREX1		27517

MSeqDR Master Exome Data Set M1: 166 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	48506448	C	T	ENST00000296443	ENSG00000213689	48506445	48509044	ENSP00000296443	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs36041404	0.0154	T=1/C=8599;T=229/C=4177;T=230/C=12776	lod=19:284	-	-	-	het	3
2	3	48506448	C	T	ENST00000395677	ENSG00000213689	48506445	48509044	-	TREX1	1	-	c.4C>T	p.H2Y	non-syn	rs36041404	0.0154	T=1/C=8599;T=229/C=4177;T=230/C=12776	lod=19:284	-	-	-	het	3
3	3	48507165	C	T	ENST00000296443	ENSG00000213689	48506445	48509044	ENSP00000296443	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	3	48507165	C	T	ENST00000395677	ENSG00000213689	48506445	48509044	-	TREX1	1	-	c.318C>T	p.P106P	syn	NA	-	-	-	-	-	-	het	1
5	3	48507182	A	G	ENST00000296443	ENSG00000213689	48506445	48509044	ENSP00000296443	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs12486046	0.0224	-	-	-	-	-	hom	1
6	3	48507182	A	G	ENST00000296443	ENSG00000213689	48506445	48509044	ENSP00000296443	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs12486046	0.0224	-	-	-	-	-	het	19
7	3	48507182	A	G	ENST00000395677	ENSG00000213689	48506445	48509044	-	TREX1	1	-	c.335A>G	p.D112G	non-syn	rs12486046	0.0224	-	-	-	-	-	hom	1
8	3	48507182	A	G	ENST00000395677	ENSG00000213689	48506445	48509044	-	TREX1	1	-	c.335A>G	p.D112G	non-syn	rs12486046	0.0224	-	-	-	-	-	het	19
9	3	48507667	T	C	ENST00000296443	ENSG00000213689	48506445	48509044	ENSP00000296443	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	het	37
10	3	48507667	T	C	ENST00000296443	ENSG00000213689	48506445	48509044	ENSP00000296443	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	hom	8
11	3	48507667	T	C	ENST00000395677	ENSG00000213689	48506445	48509044	-	TREX1	1	-	c.820T>C	p.C274R	non-syn	rs3135941	0.1552	-	-	-	-	-	het	37
12	3	48507667	T	C	ENST00000395677	ENSG00000213689	48506445	48509044	-	TREX1	1	-	c.820T>C	p.C274R	non-syn	rs3135941	0.1552	-	-	-	-	-	hom	8
13	3	48507667	T	C	ENST00000422277	ENSG00000213689	48506445	48509044	ENSP00000390478	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	het	37
14	3	48507667	T	C	ENST00000422277	ENSG00000213689	48506445	48509044	ENSP00000390478	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	hom	8
15	3	48507667	T	C	ENST00000433541	ENSG00000213689	48506445	48509044	ENSP00000412404	TREX1	1	-	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	het	37
16	3	48507667	T	C	ENST00000433541	ENSG00000213689	48506445	48509044	ENSP00000412404	TREX1	1	-	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	hom	8
17	3	48507667	T	C	ENST00000436480	ENSG00000213689	48506445	48509044	ENSP00000392569	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	het	37
18	3	48507667	T	C	ENST00000436480	ENSG00000213689	48506445	48509044	ENSP00000392569	TREX1	1	TREX1_HUMAN	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	hom	8
19	3	48507667	T	C	ENST00000456089	ENSG00000213689	48506445	48509044	ENSP00000411331	TREX1	1	-	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	het	37
20	3	48507667	T	C	ENST00000456089	ENSG00000213689	48506445	48509044	ENSP00000411331	TREX1	1	-	-	-	5'_UTR	rs3135941	0.1552	-	-	-	-	-	hom	8

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Transcripts and variants in the surrounding TREX1 3:48506445..48509044 region Gbrowse