MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 DRD5:

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
ENSG00000169676	DRD5	0	0	0	ENSG00000169676	ENST00000304374	ENSP00000306129	dopamine receptor D5 [Source:HGNC Symbol;Acc:3026]	4	9783258	9785632	1	p16.1	9783258	9785632	DRD5	DRD5-001	HGNC Symbol	HGNC transcript name	1	58.61	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1816	3026	DRD5	NM_000798	27524

MSeqDR Master Exome Data Set M1: 46 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	4	9783263	C	G	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	4	9783282	G	A	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	4	9783339	A	+GCCGCT	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	4	9783428	G	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	-	-	5'_UTR	rs2076907	0.9268	-	-	-	-	-	het	69
5	4	9783428	G	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	-	-	5'_UTR	rs2076907	0.9268	-	-	-	-	-	hom	577
6	4	9783650	C	A	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	-	-	5'_UTR	NA	-	-	lod=34:346	-	-	-	het	1
7	4	9783875	C	G	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.222C>G	p.N74K	non-syn	rs201023282	-	-	lod=499:633	TOLERATED	B	-	het	19
8	4	9783877	T	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.224T>C	p.M75T	non-syn	rs151282040	-	C=11/T=8589;C=1/T=4405;C=12/T=12994	lod=499:633	TOLERATED	D	-	hom	1
9	4	9783877	T	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.224T>C	p.M75T	non-syn	rs151282040	-	C=11/T=8589;C=1/T=4405;C=12/T=12994	lod=499:633	TOLERATED	D	-	het	4
10	4	9783905	C	T	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.252C>T	p.A84A	syn	rs2227848	-	-	lod=499:633	-	-	-	het	102
11	4	9783905	C	T	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.252C>T	p.A84A	syn	rs2227848	-	-	lod=499:633	-	-	-	hom	2
12	4	9783915	C	T	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.262C>T	p.L88F	non-syn	rs148402761	0.0123	T=66/C=8534;T=7/C=4399;T=73/C=12933	lod=499:633	DAMAGING	D	HGMD	het	2
13	4	9783917	T	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.264T>C	p.L88L	syn	rs76288744	-	-	lod=499:633	-	-	-	het	66
14	4	9783938	G	A	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.285G>A	p.M95I	non-syn	NA	-	-	lod=499:633	DAMAGING	D	-	het	1
15	4	9783971	C	T	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.318C>T	p.Y106Y	syn	rs113695344	-	-	lod=230:550	-	-	-	het	41
16	4	9784246	C	A	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.593C>A	p.A198D	non-syn	rs187886787	0.0017	-	-	TOLERATED	B	-	het	1
17	4	9784478	C	A	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.825C>A	p.S275R	non-syn	rs201762034	-	-	-	TOLERATED	B	-	het	1
18	4	9784490	G	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.837G>C	p.A279A	syn	NA	-	-	-	-	-	-	het	1
19	4	9784509	G	A	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.856G>A	p.A286T	non-syn	rs199842757	-	-	lod=31:336	TOLERATED	B	-	het	1
20	4	9784542	A	C	ENST00000304374	ENSG00000169676	9783258	9785632	ENSP00000306129	DRD5	1	DRD5_HUMAN	c.889A>C	p.T297P	non-syn	rs2227851	-	-	lod=189:529	DAMAGING	D	-	het	101

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding DRD5 4:9783258..9785632 region Gbrowse