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 AK2:

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
ENSG00000004455	AK2	1	34	11	ENSG00000004455	ENST00000373449	ENSP00000362548	adenylate kinase 2 [Source:HGNC Symbol;Acc:362]	1	33473585	33546597	-1	p35.1	33473585	33502471	AK2	AK2-002	HGNC Symbol	HGNC transcript name	13	46.32	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	204	362	AK2	NM_001199199	27511

MSeqDR Master Exome Data Set M1: 245 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	1	33473624	A	G	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs191196097	0.0011	-	-	-	-	-	het	3
2	1	33474130	G	A	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	1	33474322	G	C	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	1	33474322	G	C	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
5	1	33474399	G	A	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	1	33474492	T	C	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs115786666	0.0337	-	-	-	-	-	het	2
7	1	33474637	G	A	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs78186437	0.0227	-	-	-	-	-	het	2
8	1	33475162	T	C	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	1	33475426	C	T	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs998664	0.31058	-	-	-	-	-	het	225
10	1	33475426	C	T	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs998664	0.31058	-	-	-	-	-	hom	42
11	1	33475461	C	G	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs41265879	-	-	-	-	-	-	het	1
12	1	33475519	G	A	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	lod=70:423	-	-	-	het	2
13	1	33475575	C	-AG	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs72465520	-	-	lod=227:549	-	-	-	het	11
14	1	33475639	G	A	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs138902451	0.16604	-	lod=31:336	-	-	-	het	3
15	1	33475650	T	C	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs141799861	-	-	-	-	-	-	het	149
16	1	33475687	C	G	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs35208823	-	-	lod=18:278	-	-	-	het	126
17	1	33475721	G	A	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
18	1	33475721	G	C	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs139591926	-	-	-	-	-	-	het	404
19	1	33475721	G	T	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	1	33475750	A	G	ENST00000373449	ENSG00000004455	33473585	33546597	ENSP00000362548	AK2	-1	KAD2_HUMAN	-	-	3'_UTR	rs142975905	-	-	-	-	-	-	het	427

** 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 AK2 1:33473585..33546597 region Gbrowse