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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 AGXT:

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
ENSG00000172482	AGXT	1	0	236	ENSG00000172482	ENST00000307503	ENSP00000302620	alanine-glyoxylate aminotransferase [Source:HGNC Symbol;Acc:341]	2	241807896	241819919	1	q37.3	241807896	241818537	AGXT	AGXT-001	HGNC Symbol	HGNC transcript name	4	61.68	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	189	341	AGXT	NM_000030	27508

MSeqDR Master Exome Data Set M1: 138 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	2	241807962	G	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs34927888	0.02456	-	-	-	-	-	hom	2
2	2	241807962	G	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs34927888	0.02456	-	-	-	-	-	het	24
3	2	241808050	G	C	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs73106670	0.027	-	-	-	-	-	het	5
4	2	241808203	C	T	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs188089862	0.0026	-	-	-	-	-	het	1
5	2	241808237	G	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs73106672	0.0593	A=3/G=8583;A=258/G=4132;A=261/G=12715	-	-	-	-	het	8
6	2	241808237	G	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs73106672	0.0593	A=3/G=8583;A=258/G=4132;A=261/G=12715	-	-	-	-	hom	1
7	2	241808260	G	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	rs116057889	0.0303	A=4/G=8570;A=175/G=4211;A=179/G=12781	-	-	-	-	het	5
8	2	241808270	T	G	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	2	241808270	T	G	ENST00000472436	ENSG00000172482	241807896	241819919	-	AGXT	1	-	c.8T>G	p.V3G	non-syn	NA	-	-	-	-	-	-	het	2
10	2	241808307	A	+C	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	c.25_26insC	p.T9NA	non-syn	NA	-	-	-	-	-	-	het	1
11	2	241808307	A	+C	ENST00000472436	ENSG00000172482	241807896	241819919	-	AGXT	1	-	c.45_46insC	p.P16NA	non-syn	NA	-	-	-	-	-	-	het	1
12	2	241808308	C	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	c.26C>A	p.T9N	non-syn	rs115014558	-	A=80/C=8518;A=7/C=4389;A=87/C=12907	-	TOLERATED	B	HGMD	het	13
13	2	241808308	C	A	ENST00000472436	ENSG00000172482	241807896	241819919	-	AGXT	1	-	c.46C>A	p.P16T	non-syn	rs115014558	-	A=80/C=8518;A=7/C=4389;A=87/C=12907	-	TOLERATED	B	HGMD	het	13
14	2	241808310	C	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	c.28C>A	p.P10T	non-syn	rs180177191	-	G=1/C=8597;G=0/C=4398;G=1/C=12995	lod=14:251	DAMAGING	D	HGMD	het	1
15	2	241808310	C	A	ENST00000472436	ENSG00000172482	241807896	241819919	-	AGXT	1	-	c.48C>A	p.P16P	syn	rs180177191	-	G=1/C=8597;G=0/C=4398;G=1/C=12995	lod=14:251	DAMAGING	D	HGMD	het	1
16	2	241808314	C	A	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	c.32C>A	p.P11H	non-syn	rs34116584	-	T=1749/C=6849;T=269/C=4129;T=2018/C=10978	lod=14:251	DAMAGING	D	Hyperoxaluria, association with	het	2
17	2	241808314	C	A	ENST00000472436	ENSG00000172482	241807896	241819919	-	AGXT	1	-	c.52C>A	p.P18T	non-syn	rs34116584	-	T=1749/C=6849;T=269/C=4129;T=2018/C=10978	lod=14:251	DAMAGING	D	Hyperoxaluria, association with	het	2
18	2	241808314	C	T	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	c.32C>T	p.P11L	non-syn	rs34116584	0.1705	T=1749/C=6849;T=269/C=4129;T=2018/C=10978	lod=14:251	TOLERATED	D	Hyperoxaluria, association with	het	295
19	2	241808314	C	T	ENST00000307503	ENSG00000172482	241807896	241819919	ENSP00000302620	AGXT	1	SPYA_HUMAN	c.32C>T	p.P11L	non-syn	rs34116584	0.1705	T=1749/C=6849;T=269/C=4129;T=2018/C=10978	lod=14:251	TOLERATED	D	Hyperoxaluria, association with	hom	39
20	2	241808314	C	T	ENST00000472436	ENSG00000172482	241807896	241819919	-	AGXT	1	-	c.52C>T	p.P18S	non-syn	rs34116584	0.1705	T=1749/C=6849;T=269/C=4129;T=2018/C=10978	lod=14:251	TOLERATED	D	Hyperoxaluria, association with	het	295

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Transcripts and variants in the surrounding AGXT 2:241807896..241819919 region Gbrowse