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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 NKX2-5:

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
ENSG00000183072	NKX2-5	0	0	63	ENSG00000183072	ENST00000329198	ENSP00000327758	NK2 homeobox 5 [Source:HGNC Symbol;Acc:2488]	5	172659112	172662360	-1	q35.1	172659112	172662360	NKX2-5	NKX2-5-001	HGNC Symbol	HGNC transcript name	4	61.5	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1482	2488	NKX2-5	NM_004387	27527

MSeqDR Master Exome Data Set M1: 56 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	5	172659188	C	T	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	lod=109:471	-	-	-	het	2
2	5	172659375	C	G	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs191625345	0.0066	-	-	-	-	-	het	1
3	5	172659511	C	A	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs703752	0.289	-	-	-	-	-	hom	106
4	5	172659511	C	A	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs703752	0.289	-	-	-	-	-	het	349
5	5	172659517	G	T	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	5	172659517	G	T	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
7	5	172659579	G	T	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	c.968C>A	p.A323D	non-syn	NA	-	-	lod=271:568	DAMAGING	D	-	het	2
8	5	172659686	G	A	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	c.861C>T	p.A287A	syn	rs77612903	0.0165	A=2/G=8596;A=91/G=4309;A=93/G=12905	lod=211:541	-	-	-	het	2
9	5	172659720	G	C	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	c.827C>G	p.A276G	non-syn	NA	-	-	lod=14:251	DAMAGING	B	-	het	1
10	5	172659941	C	G	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	c.606G>C	p.L202L	syn	rs3729753	0.0763	G=1/C=8465;G=1/C=4351;G=2/C=12816	lod=861:691	-	-	HGMD	het	7
11	5	172659941	C	G	ENST00000424406	ENSG00000183072	172659112	172662360	ENSP00000395378	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs3729753	0.0763	G=1/C=8465;G=1/C=4351;G=2/C=12816	lod=861:691	-	-	HGMD	het	7
12	5	172659941	C	G	ENST00000521848	ENSG00000183072	172659112	172662360	ENSP00000427906	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs3729753	0.0763	G=1/C=8465;G=1/C=4351;G=2/C=12816	lod=861:691	-	-	HGMD	het	7
13	5	172659944	A	C	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	c.603T>G	p.T201T	syn	NA	-	-	lod=861:691	-	-	-	het	1
14	5	172659944	A	C	ENST00000424406	ENSG00000183072	172659112	172662360	ENSP00000395378	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	lod=861:691	-	-	-	het	1
15	5	172659944	A	C	ENST00000521848	ENSG00000183072	172659112	172662360	ENSP00000427906	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	lod=861:691	-	-	-	het	1
16	5	172660004	C	T	ENST00000329198	ENSG00000183072	172659112	172662360	ENSP00000327758	NKX2-5	-1	NKX25_HUMAN	c.543G>A	p.Q181Q	syn	rs72554028	0.0164	T=66/C=8534;T=4/C=4400;T=70/C=12934	lod=861:691	-	-	HGMD	het	30
17	5	172660004	C	T	ENST00000424406	ENSG00000183072	172659112	172662360	ENSP00000395378	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs72554028	0.0164	T=66/C=8534;T=4/C=4400;T=70/C=12934	lod=861:691	-	-	HGMD	het	30
18	5	172660004	C	T	ENST00000521848	ENSG00000183072	172659112	172662360	ENSP00000427906	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	rs72554028	0.0164	T=66/C=8534;T=4/C=4400;T=70/C=12934	lod=861:691	-	-	HGMD	het	30
19	5	172660293	G	A	ENST00000424406	ENSG00000183072	172659112	172662360	ENSP00000395378	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	5	172660293	G	A	ENST00000521848	ENSG00000183072	172659112	172662360	ENSP00000427906	NKX2-5	-1	NKX25_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding NKX2-5 5:172659112..172662360 region Gbrowse