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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 PDX1:

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
ENSG00000139515	PDX1	1	5	12	ENSG00000139515	ENST00000381033	ENSP00000370421	pancreatic and duodenal homeobox 1 [Source:HGNC Symbol;Acc:6107]	13	28494157	28500368	1	q12.2	28494157	28500368	PDX1	PDX1-001	HGNC Symbol	HGNC transcript name	1	58.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3651	6107	PDX1	NM_000209	27513

MSeqDR Master Exome Data Set M1: 35 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	13	28494166	A	-G	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	5'_UTR	rs146021107	-	-	-	-	-	-	het	226
2	13	28494166	A	-G	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	5'_UTR	rs146021107	-	-	-	-	-	-	hom	32
3	13	28494180	G	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	13	28494190	G	T	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	5'_UTR	rs188482874	0.0194	-	-	-	-	-	het	8
5	13	28494258	C	T	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	5'_UTR	rs193922351	0.008	-	-	-	-	-	het	2
6	13	28494281	C	T	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.6C>T	p.N2N	syn	rs146936598	-	-	lod=255:561	-	-	-	het	1
7	13	28494372	C	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.97C>A	p.P33T	non-syn	rs192902098	0.0099	-	lod=105:467	DAMAGING	D	HGMD	het	5
8	13	28494417	C	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.142C>A	p.H48N	non-syn	NA	-	-	lod=18:278	TOLERATED	B	-	het	1
9	13	28494437	G	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.162G>A	p.L54L	syn	rs28509441	0.0317	A=0/G=5258;A=82/G=2596;A=82/G=7854	lod=249:559	-	-	-	het	1
10	13	28494486	C	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.211C>A	p.P71T	non-syn	NA	-	-	lod=249:559	DAMAGING	D	-	het	1
11	13	28494501	G	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.226G>A	p.D76N	non-syn	rs137852783	-	A=22/G=6920;A=1/G=3441;A=23/G=10361	lod=34:346	DAMAGING	D	HGMD	het	3
12	13	28498592	A	G	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.606A>G	p.K202K	syn	NA	-	-	lod=449:622	-	-	-	het	1
13	13	28498656	G	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.670G>A	p.E224K	non-syn	rs137852787	-	-	lod=135:493	DAMAGING	P	HGMD	het	3
14	13	28498699	T	+GCC	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.713_714insGCC	p.L238NA	non-syn	NA	-	-	-	-	-	-	het	1
15	13	28498702	C	A	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.716C>A	p.P239Q	non-syn	rs199644078	-	A=15/C=7417;A=48/C=3734;A=63/C=11151	-	DAMAGING	B	HGMD	het	9
16	13	28498709	G	T	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	c.723G>T	p.P241P	syn	NA	-	-	-	-	-	-	het	1
17	13	28499405	T	-C	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	13	28499480	C	+TCT	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	3'_UTR	rs113506161	-	-	-	-	-	-	het	1
19	13	28499583	C	-CCCTCCTCT	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	3'_UTR	rs139276646	-	-	-	-	-	-	het	62
20	13	28499583	C	-CCCTCCTCT	ENST00000381033	ENSG00000139515	28494157	28500368	ENSP00000370421	PDX1	1	PDX1_HUMAN	-	-	3'_UTR	rs139276646	-	-	-	-	-	-	hom	1

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding PDX1 13:28494157..28500368 region Gbrowse