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
PMD-VR_Virtual Registry
Collaboration
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 GCDH:

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
ENSG00000105607	GCDH	1	9	40	ENSG00000105607	ENST00000587832		glutaryl-CoA dehydrogenase [Source:HGNC Symbol;Acc:4189]	19	13001840	13025021	1	p13.2	13001994	13004696	GCDH	GCDH-014	HGNC Symbol	HGNC transcript name	18	51.4	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	2639	4189	GCDH		27526

MSeqDR Master Exome Data Set M1: 261 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	19	13002033	A	G	ENST00000222214	ENSG00000105607	13001840	13025021	ENSP00000222214	GCDH	1	GCDH_HUMAN	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
2	19	13002033	A	G	ENST00000222214	ENSG00000105607	13001840	13025021	ENSP00000222214	GCDH	1	GCDH_HUMAN	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
3	19	13002033	A	G	ENST00000421816	ENSG00000105607	13001840	13025021	-	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
4	19	13002033	A	G	ENST00000421816	ENSG00000105607	13001840	13025021	-	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
5	19	13002033	A	G	ENST00000422947	ENSG00000105607	13001840	13025021	ENSP00000394821	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
6	19	13002033	A	G	ENST00000422947	ENSG00000105607	13001840	13025021	ENSP00000394821	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
7	19	13002033	A	G	ENST00000457854	ENSG00000105607	13001840	13025021	ENSP00000394872	GCDH	1	GCDH_HUMAN	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
8	19	13002033	A	G	ENST00000457854	ENSG00000105607	13001840	13025021	ENSP00000394872	GCDH	1	GCDH_HUMAN	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
9	19	13002033	A	G	ENST00000585420	ENSG00000105607	13001840	13025021	-	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
10	19	13002033	A	G	ENST00000585420	ENSG00000105607	13001840	13025021	-	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
11	19	13002033	A	G	ENST00000587072	ENSG00000105607	13001840	13025021	ENSP00000468584	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
12	19	13002033	A	G	ENST00000587072	ENSG00000105607	13001840	13025021	ENSP00000468584	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
13	19	13002033	A	G	ENST00000587832	ENSG00000105607	13001840	13025021	-	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
14	19	13002033	A	G	ENST00000587832	ENSG00000105607	13001840	13025021	-	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
15	19	13002033	A	G	ENST00000588905	ENSG00000105607	13001840	13025021	ENSP00000465770	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
16	19	13002033	A	G	ENST00000588905	ENSG00000105607	13001840	13025021	ENSP00000465770	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
17	19	13002033	A	G	ENST00000589039	ENSG00000105607	13001840	13025021	ENSP00000465618	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
18	19	13002033	A	G	ENST00000589039	ENSG00000105607	13001840	13025021	ENSP00000465618	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123
19	19	13002033	A	G	ENST00000590445	ENSG00000105607	13001840	13025021	ENSP00000468125	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	het	13
20	19	13002033	A	G	ENST00000590445	ENSG00000105607	13001840	13025021	ENSP00000468125	GCDH	1	-	-	-	+17bp 5'_splice_site	rs7251834	0.9241	-	-	-	-	-	hom	123

** 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 GCDH 19:13001840..13025021 region Gbrowse