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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 DRD4:

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
ENSG00000069696	DRD4	0	0	2	ENSG00000069696	ENST00000176183	ENSP00000176183	dopamine receptor D4 [Source:HGNC Symbol;Acc:3025]	11	637293	640706	1	p15.5	637293	640706	DRD4	DRD4-001	HGNC Symbol	HGNC transcript name	2	67.02	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1815	3025	DRD4	NM_000797	27504

MSeqDR Master Exome Data Set M1: 59 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	11	637294	C	T	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	-	-	5'_UTR	rs146680769	0.0385	-	-	-	-	-	het	16
2	11	637294	C	T	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	-	-	5'_UTR	rs146680769	0.0385	-	-	-	-	-	hom	1
3	11	637335	G	C	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.31G>C	p.G11R	non-syn	rs189482961	0.0074	-	-	DAMAGING	NA	-	het	14
4	11	637361	C	-GCGGGGGCATCT	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.58_69del	p.A20NA	non-syn	NA	-	-	-	-	-	-	het	48
5	11	637361	C	-GCGGGGGCATCT	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.58_69del	p.A20NA	non-syn	NA	-	-	-	-	-	-	hom	1
6	11	637408	C	T	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.104C>T	p.A35V	non-syn	NA	-	-	lod=36:352	TOLERATED	NA	-	het	2
7	11	637536	G	-CCGCCGACCTCCT	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.233_245del	p.A78NA	non-syn	NA	-	A=0/G=8516;A=32/G=4326;A=32/G=12842	lod=399:609	-	-	-	het	6
8	11	639083	C	-A	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	c.28_28del	p.K10NA	non-syn	rs138188226	-	-	-	-	-	-	het	1
9	11	639561	C	T	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	-	-	+16bp 5'_splice_site	rs201554946	-	T=69/C=8383;T=40/C=4254;T=109/C=12637	-	-	-	-	het	11
10	11	639561	C	T	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	-	-	+16bp 5'_splice_site	rs201554946	-	T=69/C=8383;T=40/C=4254;T=109/C=12637	-	-	-	-	het	11
11	11	639650	T	+CGTGGC	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.401_402insCGTGGC	p.F134NA	non-syn	NA	-	-	lod=82:440	-	-	-	het	1
12	11	639650	T	-CGTGGC	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.402_407del	p.F134NA	non-syn	NA	-	-	lod=82:440	-	-	-	het	2
13	11	639650	T	+CGTGGC	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	c.218_219insCGTGGC	p.F73NA	non-syn	NA	-	-	lod=82:440	-	-	-	het	1
14	11	639650	T	-CGTGGC	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	c.219_224del	p.F73NA	non-syn	NA	-	-	lod=82:440	-	-	-	het	2
15	11	639738	C	A	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.489C>A	p.S163S	syn	NA	-	-	-	-	-	-	het	2
16	11	639738	C	A	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	c.306C>A	p.S102S	syn	NA	-	-	-	-	-	-	het	2
17	11	639746	T	G	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.497T>G	p.V166G	non-syn	NA	-	-	lod=130:489	DAMAGING	NA	-	het	1
18	11	639746	T	G	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	c.314T>G	p.V105G	non-syn	NA	-	-	lod=130:489	DAMAGING	NA	-	het	1
19	11	639757	G	A	ENST00000176183	ENSG00000069696	637293	640706	ENSP00000176183	DRD4	1	DRD4_HUMAN	c.508G>A	p.V170I	non-syn	NA	-	A=0/G=8518;A=1/G=4313;A=1/G=12831	lod=130:489	TOLERATED	NA	-	het	1
20	11	639757	G	A	ENST00000528733	ENSG00000069696	637293	640706	-	DRD4	1	-	c.325G>A	p.V109I	non-syn	NA	-	A=0/G=8518;A=1/G=4313;A=1/G=12831	lod=130:489	TOLERATED	NA	-	het	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 DRD4 11:637293..640706 region Gbrowse