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 ATP8B1:

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
ENSG00000081923	ATP8B1	0	0	13	ENSG00000081923	ENST00000283684	ENSP00000283684	ATPase, aminophospholipid transporter, class I, type 8B, member 1 [Source:HGNC Symbol;Acc:3706]	18	55313658	55470333	-1	q21.31	55313658	55399039	ATP8B1	ATP8B1-001	HGNC Symbol	HGNC transcript name	6	42.99	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5205	3706	ATP8B1		27512

MSeqDR Master Exome Data Set M1: 193 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	18	55313704	A	-T	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs35833803	-	-	lod=419:614	-	-	-	hom	18
2	18	55313704	A	-T	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs35833803	-	-	lod=419:614	-	-	-	het	138
3	18	55313704	A	-T	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs35833803	-	-	lod=419:614	-	-	-	hom	18
4	18	55313704	A	-T	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs35833803	-	-	lod=419:614	-	-	-	het	138
5	18	55313721	A	G	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	NA	-	-	lod=419:614	-	-	-	het	3
6	18	55313721	A	G	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	NA	-	-	lod=419:614	-	-	-	het	3
7	18	55313783	A	T	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1129621	0.24092	-	lod=419:614	-	-	-	het	287
8	18	55313783	A	T	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1129621	0.24092	-	lod=419:614	-	-	-	hom	59
9	18	55313783	A	T	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1129621	0.24092	-	lod=419:614	-	-	-	het	287
10	18	55313783	A	T	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1129621	0.24092	-	lod=419:614	-	-	-	hom	59
11	18	55313997	C	T	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs11543269	0.0948	-	lod=30:333	-	-	-	het	120
12	18	55313997	C	T	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs11543269	0.0948	-	lod=30:333	-	-	-	hom	16
13	18	55313997	C	T	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs11543269	0.0948	-	lod=30:333	-	-	-	het	120
14	18	55313997	C	T	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs11543269	0.0948	-	lod=30:333	-	-	-	hom	16
15	18	55314211	T	C	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1968274	0.3931	-	-	-	-	-	hom	32
16	18	55314211	T	C	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1968274	0.3931	-	-	-	-	-	het	228
17	18	55314211	T	C	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1968274	0.3931	-	-	-	-	-	hom	32
18	18	55314211	T	C	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs1968274	0.3931	-	-	-	-	-	het	228
19	18	55314292	A	G	ENST00000283684	ENSG00000081923	55313658	55470333	ENSP00000283684	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs150194818	0.0044	-	-	-	-	-	het	1
20	18	55314292	A	G	ENST00000536015	ENSG00000081923	55313658	55470333	ENSP00000445359	ATP8B1	-1	AT8B1_HUMAN	-	-	3'_UTR	rs150194818	0.0044	-	-	-	-	-	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 ATP8B1 18:55313658..55470333 region Gbrowse