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 NBN:

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
ENSG00000104320	NBN	0	0	453	ENSG00000104320	ENST00000265433	ENSP00000265433	nibrin [Source:HGNC Symbol;Acc:7652]	8	90945564	91015456	-1	q21.3	90945564	90996944	NBN	NBN-001	HGNC Symbol	HGNC transcript name	10	37.15	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4683	7652	NBN	NM_002485	27523

MSeqDR Master Exome Data Set M1: 338 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	8	90945598	C	T	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs10464867	0.141	-	-	-	-	-	het	33
2	8	90945598	C	T	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs10464867	0.141	-	-	-	-	-	hom	2
3	8	90945598	C	T	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs10464867	0.141	-	-	-	-	-	het	33
4	8	90945598	C	T	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs10464867	0.141	-	-	-	-	-	hom	2
5	8	90945681	C	A	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs117807915	0.00551	-	-	-	-	-	het	15
6	8	90945681	C	A	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs117807915	0.00551	-	-	-	-	-	het	15
7	8	90945751	T	G	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	8	90945751	T	G	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	8	90945751	T	G	ENST00000409330	ENSG00000104320	90945564	91015456	ENSP00000386924	NBN	-1	NBN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	8	90945833	A	G	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs14448	0.3918	-	-	-	-	-	hom	13
11	8	90945833	A	G	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs14448	0.3918	-	-	-	-	-	het	106
12	8	90945833	A	G	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs14448	0.3918	-	-	-	-	-	hom	13
13	8	90945833	A	G	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs14448	0.3918	-	-	-	-	-	het	106
14	8	90945833	A	G	ENST00000409330	ENSG00000104320	90945564	91015456	ENSP00000386924	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs14448	0.3918	-	-	-	-	-	hom	13
15	8	90945833	A	G	ENST00000409330	ENSG00000104320	90945564	91015456	ENSP00000386924	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs14448	0.3918	-	-	-	-	-	het	106
16	8	90945849	A	G	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs13312987	0.1827	-	-	-	-	-	het	13
17	8	90945849	A	G	ENST00000265433	ENSG00000104320	90945564	91015456	ENSP00000265433	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs13312987	0.1827	-	-	-	-	-	hom	2
18	8	90945849	A	G	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs13312987	0.1827	-	-	-	-	-	het	13
19	8	90945849	A	G	ENST00000396252	ENSG00000104320	90945564	91015456	ENSP00000379551	NBN	-1	-	-	-	3'_UTR	rs13312987	0.1827	-	-	-	-	-	hom	2
20	8	90945849	A	G	ENST00000409330	ENSG00000104320	90945564	91015456	ENSP00000386924	NBN	-1	NBN_HUMAN	-	-	3'_UTR	rs13312987	0.1827	-	-	-	-	-	het	13

** 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 NBN 8:90945564..91015456 region Gbrowse