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 NFKBIA:

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
ENSG00000100906	NFKBIA	0	0	3	ENSG00000100906	ENST00000216797	ENSP00000216797	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha [Source:HGNC Symbol;Acc:7797]	14	35870717	35873955	-1	q13.2	35870717	35873952	NFKBIA	NFKBIA-001	HGNC Symbol	HGNC transcript name	10	56.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4792	7797	NFKBIA	NM_020529	27520

MSeqDR Master Exome Data Set M1: 169 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	35870733	T	C	ENST00000216797	ENSG00000100906	35870717	35873955	ENSP00000216797	NFKBIA	-1	IKBA_HUMAN	-	-	3'_UTR	NA	-	-	lod=105:467	-	-	-	het	1
2	14	35870798	C	T	ENST00000216797	ENSG00000100906	35870717	35873955	ENSP00000216797	NFKBIA	-1	IKBA_HUMAN	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	het	14
3	14	35870798	C	T	ENST00000216797	ENSG00000100906	35870717	35873955	ENSP00000216797	NFKBIA	-1	IKBA_HUMAN	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	hom	2
4	14	35870798	C	T	ENST00000554001	ENSG00000100906	35870717	35873955	ENSP00000450537	NFKBIA	-1	-	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	het	14
5	14	35870798	C	T	ENST00000554001	ENSG00000100906	35870717	35873955	ENSP00000450537	NFKBIA	-1	-	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	hom	2
6	14	35870798	C	T	ENST00000557140	ENSG00000100906	35870717	35873955	ENSP00000451257	NFKBIA	-1	-	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	het	14
7	14	35870798	C	T	ENST00000557140	ENSG00000100906	35870717	35873955	ENSP00000451257	NFKBIA	-1	-	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	hom	2
8	14	35870798	C	T	ENST00000557389	ENSG00000100906	35870717	35873955	ENSP00000450514	NFKBIA	-1	-	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	het	14
9	14	35870798	C	T	ENST00000557389	ENSG00000100906	35870717	35873955	ENSP00000450514	NFKBIA	-1	-	-	-	3'_UTR	rs2273650	0.1432	-	lod=40:363	-	-	-	hom	2
10	14	35870853	C	T	ENST00000216797	ENSG00000100906	35870717	35873955	ENSP00000216797	NFKBIA	-1	IKBA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	14	35870853	C	T	ENST00000554001	ENSG00000100906	35870717	35873955	ENSP00000450537	NFKBIA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	14	35870853	C	T	ENST00000557140	ENSG00000100906	35870717	35873955	ENSP00000451257	NFKBIA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	14	35870853	C	T	ENST00000557389	ENSG00000100906	35870717	35873955	ENSP00000450514	NFKBIA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	14	35870854	G	A	ENST00000216797	ENSG00000100906	35870717	35873955	ENSP00000216797	NFKBIA	-1	IKBA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	14	35870854	G	A	ENST00000554001	ENSG00000100906	35870717	35873955	ENSP00000450537	NFKBIA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	14	35870854	G	A	ENST00000557140	ENSG00000100906	35870717	35873955	ENSP00000451257	NFKBIA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	14	35870854	G	A	ENST00000557389	ENSG00000100906	35870717	35873955	ENSP00000450514	NFKBIA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	14	35870956	C	A	ENST00000216797	ENSG00000100906	35870717	35873955	ENSP00000216797	NFKBIA	-1	IKBA_HUMAN	-	-	3'_UTR	rs11569620	0.00094	-	-	-	-	-	het	8
19	14	35870956	C	A	ENST00000554001	ENSG00000100906	35870717	35873955	ENSP00000450537	NFKBIA	-1	-	-	-	3'_UTR	rs11569620	0.00094	-	-	-	-	-	het	8
20	14	35870956	C	A	ENST00000557140	ENSG00000100906	35870717	35873955	ENSP00000451257	NFKBIA	-1	-	-	-	3'_UTR	rs11569620	0.00094	-	-	-	-	-	het	8

** 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 NFKBIA 14:35870717..35873955 region Gbrowse