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 MED12:

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
ENSG00000184634	MED12	1	2	125	ENSG00000184634	ENST00000374102	ENSP00000363215	mediator complex subunit 12 [Source:HGNC Symbol;Acc:11957]	X	70338406	70362303	1	q13.1	70338545	70362300	MED12	MED12-001	HGNC Symbol	HGNC transcript name	9	51.08	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	9968	11957	MED12		27516

MSeqDR Master Exome Data Set M1: 201 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	X	70338420	C	T	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	-	-	5'_UTR	NA	-	-	lod=13:243	-	-	-	het	1
2	X	70338420	C	T	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	-	-	5'_UTR	NA	-	-	lod=13:243	-	-	-	hom	1
3	X	70338487	T	C	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	X	70338487	T	C	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
5	X	70339712	G	A	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	c.381G>A	p.T127T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	het	1
6	X	70339712	G	A	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	c.381G>A	p.T127T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	hom	1
7	X	70339712	G	A	ENST00000374080	ENSG00000184634	70338406	70362303	ENSP00000363193	MED12	1	MED12_HUMAN	c.381G>A	p.T127T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	het	1
8	X	70339712	G	A	ENST00000374080	ENSG00000184634	70338406	70362303	ENSP00000363193	MED12	1	MED12_HUMAN	c.381G>A	p.T127T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	hom	1
9	X	70339712	G	A	ENST00000374102	ENSG00000184634	70338406	70362303	ENSP00000363215	MED12	1	MED12_HUMAN	c.381G>A	p.T127T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	het	1
10	X	70339712	G	A	ENST00000374102	ENSG00000184634	70338406	70362303	ENSP00000363215	MED12	1	MED12_HUMAN	c.381G>A	p.T127T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	hom	1
11	X	70339712	G	A	ENST00000429213	ENSG00000184634	70338406	70362303	ENSP00000399084	MED12	1	-	c.335G>A	p.R112H	non-syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	het	1
12	X	70339712	G	A	ENST00000429213	ENSG00000184634	70338406	70362303	ENSP00000399084	MED12	1	-	c.335G>A	p.R112H	non-syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	hom	1
13	X	70339712	G	A	ENST00000430072	ENSG00000184634	70338406	70362303	ENSP00000414203	MED12	1	-	c.285G>A	p.T95T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	het	1
14	X	70339712	G	A	ENST00000430072	ENSG00000184634	70338406	70362303	ENSP00000414203	MED12	1	-	c.285G>A	p.T95T	syn	rs202125318	-	A=1/G=6502;A=4/G=3404;A=5/G=9906	lod=503:634	-	-	-	hom	1
15	X	70341169	A	C	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	-	-	-8bp 3'_splice_site	rs62609586	0.2196	C=2065/A=4377;C=234/A=3034;C=2299/A=7411	-	-	-	-	het	233
16	X	70341169	A	C	ENST00000333646	ENSG00000184634	70338406	70362303	ENSP00000333125	MED12	1	MED12_HUMAN	-	-	-8bp 3'_splice_site	rs62609586	0.2196	C=2065/A=4377;C=234/A=3034;C=2299/A=7411	-	-	-	-	hom	215
17	X	70341169	A	C	ENST00000374080	ENSG00000184634	70338406	70362303	ENSP00000363193	MED12	1	MED12_HUMAN	-	-	-8bp 3'_splice_site	rs62609586	0.2196	C=2065/A=4377;C=234/A=3034;C=2299/A=7411	-	-	-	-	het	233
18	X	70341169	A	C	ENST00000374080	ENSG00000184634	70338406	70362303	ENSP00000363193	MED12	1	MED12_HUMAN	-	-	-8bp 3'_splice_site	rs62609586	0.2196	C=2065/A=4377;C=234/A=3034;C=2299/A=7411	-	-	-	-	hom	215
19	X	70341169	A	C	ENST00000374102	ENSG00000184634	70338406	70362303	ENSP00000363215	MED12	1	MED12_HUMAN	-	-	-8bp 3'_splice_site	rs62609586	0.2196	C=2065/A=4377;C=234/A=3034;C=2299/A=7411	-	-	-	-	het	233
20	X	70341169	A	C	ENST00000374102	ENSG00000184634	70338406	70362303	ENSP00000363215	MED12	1	MED12_HUMAN	-	-	-8bp 3'_splice_site	rs62609586	0.2196	C=2065/A=4377;C=234/A=3034;C=2299/A=7411	-	-	-	-	hom	215

** 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 MED12 X:70338406..70362303 region Gbrowse