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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 AASS:

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
ENSG00000008311	AASS	1	0	8	ENSG00000008311	ENST00000460376		aminoadipate-semialdehyde synthase [Source:HGNC Symbol;Acc:17366]	7	121715701	121784334	-1	q31.32	121715701	121726207	AASS	AASS-004	HGNC Symbol	HGNC transcript name	7	36.48	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	10157	17366	AASS		27506

MSeqDR Master Exome Data Set M1: 190 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	7	121716100	T	G	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1932A>C	p.A644A	syn	NA	-	-	-	-	-	-	het	1
2	7	121716108	G	C	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1924C>G	p.L642V	non-syn	rs186293486	0.0016	-	-	-	-	-	het	1
3	7	121716176	C	T	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1856G>A	p.R619Q	non-syn	NA	-	-	-	-	-	-	het	2
4	7	121716228	A	+AC	ENST00000393376	ENSG00000008311	121715701	121784334	ENSP00000377040	AASS	-1	AASS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	7	121716228	A	+AC	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1803_1804insGT	p.*602NA	non-syn	NA	-	-	-	-	-	-	het	2
6	7	121716228	A	+AC	ENST00000473553	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1790_1791insGT	p.F597NA	non-syn	NA	-	-	-	-	-	-	het	2
7	7	121716243	C	+A	ENST00000393376	ENSG00000008311	121715701	121784334	ENSP00000377040	AASS	-1	AASS_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
8	7	121716243	C	+A	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1788_1789insT	p.V597NA	non-syn	NA	-	-	-	-	-	-	het	8
9	7	121716243	C	+A	ENST00000473553	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1775_1776insT	p.L592NA	non-syn	NA	-	-	-	-	-	-	het	8
10	7	121716388	T	C	ENST00000358954	ENSG00000008311	121715701	121784334	ENSP00000351834	AASS	-1	-	-	-	3'_UTR	rs79387449	0.00395	-	-	-	-	-	het	4
11	7	121716388	T	C	ENST00000393376	ENSG00000008311	121715701	121784334	ENSP00000377040	AASS	-1	AASS_HUMAN	-	-	3'_UTR	rs79387449	0.00395	-	-	-	-	-	het	4
12	7	121716388	T	C	ENST00000417368	ENSG00000008311	121715701	121784334	ENSP00000403768	AASS	-1	AASS_HUMAN	-	-	3'_UTR	rs79387449	0.00395	-	-	-	-	-	het	4
13	7	121716388	T	C	ENST00000431170	ENSG00000008311	121715701	121784334	ENSP00000414001	AASS	-1	-	-	-	3'_UTR	rs79387449	0.00395	-	-	-	-	-	het	4
14	7	121716388	T	C	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1644A>G	p.I548M	non-syn	rs79387449	0.00395	-	-	-	-	-	het	4
15	7	121716388	T	C	ENST00000473553	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1631A>G	p.Y544C	non-syn	rs79387449	0.00395	-	-	-	-	-	het	4
16	7	121716402	T	C	ENST00000358954	ENSG00000008311	121715701	121784334	ENSP00000351834	AASS	-1	-	-	-	3'_UTR	rs192056320	0.0014	-	-	-	-	-	het	2
17	7	121716402	T	C	ENST00000393376	ENSG00000008311	121715701	121784334	ENSP00000377040	AASS	-1	AASS_HUMAN	-	-	3'_UTR	rs192056320	0.0014	-	-	-	-	-	het	2
18	7	121716402	T	C	ENST00000417368	ENSG00000008311	121715701	121784334	ENSP00000403768	AASS	-1	AASS_HUMAN	-	-	3'_UTR	rs192056320	0.0014	-	-	-	-	-	het	2
19	7	121716402	T	C	ENST00000431170	ENSG00000008311	121715701	121784334	ENSP00000414001	AASS	-1	-	-	-	3'_UTR	rs192056320	0.0014	-	-	-	-	-	het	2
20	7	121716402	T	C	ENST00000460376	ENSG00000008311	121715701	121784334	-	AASS	-1	-	c.1630A>G	p.I544V	non-syn	rs192056320	0.0014	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding AASS 7:121715701..121784334 region Gbrowse