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 GABRB3:

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
ENSG00000166206	GABRB3	0	0	5	ENSG00000166206	ENST00000311550	ENSP00000308725	gamma-aminobutyric acid (GABA) A receptor, beta 3 [Source:HGNC Symbol;Acc:4083]	15	26788693	27184686	-1	q12	26788693	27018221	GABRB3	GABRB3-002	HGNC Symbol	HGNC transcript name	13	41.34	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2562	4083	GABRB3	NM_000814	27521

MSeqDR Master Exome Data Set M1: 247 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	15	26788723	T	C	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	rs142401138	0.00094	-	lod=541:642	-	-	-	het	1
2	15	26788723	T	C	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	rs142401138	0.00094	-	lod=541:642	-	-	-	het	1
3	15	26788874	T	C	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
4	15	26788874	T	C	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	10
5	15	26788922	A	G	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	NA	-	-	lod=71:425	-	-	-	het	1
6	15	26788922	A	G	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	NA	-	-	lod=71:425	-	-	-	het	1
7	15	26788997	C	G	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	15	26788997	C	G	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
9	15	26789009	A	C	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	15	26789009	A	C	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
11	15	26789162	T	C	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	rs2017247	0.75978	-	lod=209:540	-	-	-	hom	373
12	15	26789162	T	C	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	rs2017247	0.75978	-	lod=209:540	-	-	-	het	222
13	15	26789162	T	C	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	rs2017247	0.75978	-	lod=209:540	-	-	-	hom	373
14	15	26789162	T	C	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	rs2017247	0.75978	-	lod=209:540	-	-	-	het	222
15	15	26789180	G	A	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	rs74006290	0.0085	-	-	-	-	-	het	1
16	15	26789180	G	A	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	rs74006290	0.0085	-	-	-	-	-	het	1
17	15	26789287	C	T	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	rs142159941	0.0163	-	-	-	-	-	het	1
18	15	26789287	C	T	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	rs142159941	0.0163	-	-	-	-	-	het	1
19	15	26789527	G	A	ENST00000311550	ENSG00000166206	26788693	27184686	ENSP00000308725	GABRB3	-1	GBRB3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	15	26789527	G	A	ENST00000541819	ENSG00000166206	26788693	27184686	ENSP00000442408	GABRB3	-1	-	-	-	3'_UTR	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.

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 GABRB3 15:26788693..27184686 region Gbrowse