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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 TPH2:

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
ENSG00000139287	TPH2	0	0	3	ENSG00000139287	ENST00000333850	ENSP00000329093	tryptophan hydroxylase 2 [Source:HGNC Symbol;Acc:20692]	12	72332626	72580398	1	q21.1	72332626	72426221	TPH2	TPH2-001	HGNC Symbol	HGNC transcript name	6	38.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	121278	20692	TPH2	NM_173353	27519

MSeqDR Master Exome Data Set M1: 41 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	12	72332708	C	T	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
2	12	72332715	A	G	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	-	-	5'_UTR	rs11178998	0.1425	G=275/A=3707;G=24/A=1728;G=299/A=5435	-	-	-	Gene expression, association with	hom	8
3	12	72332715	A	G	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	-	-	5'_UTR	rs11178998	0.1425	G=275/A=3707;G=24/A=1728;G=299/A=5435	-	-	-	Gene expression, association with	het	112
4	12	72335365	T	G	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.107T>G	p.L36R	non-syn	NA	-	-	-	DAMAGING	B	-	het	1
5	12	72335365	T	G	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.117T>G	p.T39T	syn	NA	-	-	-	DAMAGING	B	-	het	1
6	12	72335380	C	A	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.122C>A	p.S41Y	non-syn	rs78162420	0.0111	A=1/C=8599;A=0/C=4406;A=1/C=13005	lod=98:459	TOLERATED	B	-	het	4
7	12	72335380	C	A	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.132C>A	p.L44L	syn	rs78162420	0.0111	A=1/C=8599;A=0/C=4406;A=1/C=13005	lod=98:459	TOLERATED	B	-	het	4
8	12	72335408	G	A	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.150G>A	p.K50K	syn	NA	-	-	lod=98:459	-	-	-	hom	1
9	12	72335408	G	A	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.160G>A	p.G54R	non-syn	NA	-	-	lod=98:459	-	-	-	hom	1
10	12	72335421	C	T	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.163C>T	p.R55C	non-syn	rs75558144	0.0043	T=2/C=8598;T=16/C=4390;T=18/C=12988	-	DAMAGING	B	-	het	1
11	12	72335421	C	T	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.173C>T	p.T58M	non-syn	rs75558144	0.0043	T=2/C=8598;T=16/C=4390;T=18/C=12988	-	DAMAGING	B	-	het	1
12	12	72338165	A	G	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.347A>G	p.K116R	non-syn	NA	-	-	lod=316:584	TOLERATED	B	-	het	3
13	12	72338165	A	G	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.357A>G	p.E119E	syn	NA	-	-	lod=316:584	TOLERATED	B	-	het	3
14	12	72338184	C	G	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.366C>G	p.L122L	syn	NA	-	-	lod=129:489	-	-	-	het	1
15	12	72338184	C	G	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.376C>G	p.H126D	non-syn	NA	-	-	lod=129:489	-	-	-	het	1
16	12	72338251	G	A	ENST00000333850	ENSG00000139287	72332626	72580398	ENSP00000329093	TPH2	1	TPH2_HUMAN	c.433G>A	p.E145K	non-syn	NA	-	-	lod=99:460	TOLERATED	B	-	het	1
17	12	72338251	G	A	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.443G>A	p.G148E	non-syn	NA	-	-	lod=99:460	TOLERATED	B	-	het	1
18	12	72355431	A	G	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.717A>G	p.A239A	syn	rs10506644	0.0366	G=1/A=3981;G=93/A=1659;G=94/A=5640	-	DAMAGING	-	-	het	4
19	12	72355472	A	C	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.758A>C	p.Y253S	non-syn	NA	-	-	-	DAMAGING	-	-	het	1
20	12	72355497	G	T	ENST00000546576	ENSG00000139287	72332626	72580398	-	TPH2	1	-	c.783G>T	p.Q261H	non-syn	rs116347758	0.0267	T=3/G=3977;T=43/G=1709;T=46/G=5686	lod=44:374	-	-	-	het	12

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Transcripts and variants in the surrounding TPH2 12:72332626..72580398 region Gbrowse