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 AKT1:

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
ENSG00000142208	AKT1	0	0	9	ENSG00000142208	ENST00000544168	ENSP00000443897	v-akt murine thymoma viral oncogene homolog 1 [Source:HGNC Symbol;Acc:391]	14	105235686	105262088	-1	q32.33	105236492	105244015	AKT1	AKT1-007	HGNC Symbol	HGNC transcript name	18	64.08	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	207	391	AKT1		27520

MSeqDR Master Exome Data Set M1: 427 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	14	105236355	C	T	ENST00000349310	ENSG00000142208	105235686	105262088	ENSP00000270202	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	het	11
2	14	105236355	C	T	ENST00000349310	ENSG00000142208	105235686	105262088	ENSP00000270202	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	hom	1
3	14	105236355	C	T	ENST00000402615	ENSG00000142208	105235686	105262088	ENSP00000385326	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	het	11
4	14	105236355	C	T	ENST00000402615	ENSG00000142208	105235686	105262088	ENSP00000385326	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	hom	1
5	14	105236355	C	T	ENST00000407796	ENSG00000142208	105235686	105262088	ENSP00000384293	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	het	11
6	14	105236355	C	T	ENST00000407796	ENSG00000142208	105235686	105262088	ENSP00000384293	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	hom	1
7	14	105236355	C	T	ENST00000553506	ENSG00000142208	105235686	105262088	-	AKT1	-1	-	c.2164G>A	p.G722R	non-syn	rs1130245	0.0366	-	-	-	-	-	het	11
8	14	105236355	C	T	ENST00000553506	ENSG00000142208	105235686	105262088	-	AKT1	-1	-	c.2164G>A	p.G722R	non-syn	rs1130245	0.0366	-	-	-	-	-	hom	1
9	14	105236355	C	T	ENST00000554192	ENSG00000142208	105235686	105262088	ENSP00000450681	AKT1	-1	-	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	het	11
10	14	105236355	C	T	ENST00000554192	ENSG00000142208	105235686	105262088	ENSP00000450681	AKT1	-1	-	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	hom	1
11	14	105236355	C	T	ENST00000554581	ENSG00000142208	105235686	105262088	ENSP00000451828	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	het	11
12	14	105236355	C	T	ENST00000554581	ENSG00000142208	105235686	105262088	ENSP00000451828	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	hom	1
13	14	105236355	C	T	ENST00000555528	ENSG00000142208	105235686	105262088	ENSP00000450688	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	het	11
14	14	105236355	C	T	ENST00000555528	ENSG00000142208	105235686	105262088	ENSP00000450688	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs1130245	0.0366	-	-	-	-	-	hom	1
15	14	105236355	C	T	ENST00000557552	ENSG00000142208	105235686	105262088	-	AKT1	-1	-	c.7730G>A	p.R2577Q	non-syn	rs1130245	0.0366	-	-	-	-	-	het	11
16	14	105236355	C	T	ENST00000557552	ENSG00000142208	105235686	105262088	-	AKT1	-1	-	c.7730G>A	p.R2577Q	non-syn	rs1130245	0.0366	-	-	-	-	-	hom	1
17	14	105236377	G	A	ENST00000349310	ENSG00000142208	105235686	105262088	ENSP00000270202	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs41307094	0.0193	-	-	-	-	-	het	4
18	14	105236377	G	A	ENST00000402615	ENSG00000142208	105235686	105262088	ENSP00000385326	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs41307094	0.0193	-	-	-	-	-	het	4
19	14	105236377	G	A	ENST00000407796	ENSG00000142208	105235686	105262088	ENSP00000384293	AKT1	-1	AKT1_HUMAN	-	-	3'_UTR	rs41307094	0.0193	-	-	-	-	-	het	4
20	14	105236377	G	A	ENST00000553506	ENSG00000142208	105235686	105262088	-	AKT1	-1	-	c.2142C>T	p.C714C	syn	rs41307094	0.0193	-	-	-	-	-	het	4

** 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 AKT1 14:105235686..105262088 region Gbrowse