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 SPTBN2:

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
ENSG00000173898	SPTBN2	1	0	18	ENSG00000173898	ENST00000533211	ENSP00000432568	spectrin, beta, non-erythrocytic 2 [Source:HGNC Symbol;Acc:11276]	11	66452719	66496697	-1	q13.2	66452719	66496430	SPTBN2	SPTBN2-001	HGNC Symbol	HGNC transcript name	9	55.04	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	6712	11276	SPTBN2		27504

MSeqDR Master Exome Data Set M1: 344 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	11	66452796	A	G	ENST00000309996	ENSG00000173898	66452719	66496697	ENSP00000311489	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	11	66452796	A	G	ENST00000529997	ENSG00000173898	66452719	66496697	ENSP00000433593	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	11	66452796	A	G	ENST00000533211	ENSG00000173898	66452719	66496697	ENSP00000432568	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	11	66452860	G	A	ENST00000309996	ENSG00000173898	66452719	66496697	ENSP00000311489	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
5	11	66452860	G	A	ENST00000529997	ENSG00000173898	66452719	66496697	ENSP00000433593	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
6	11	66452860	G	A	ENST00000533211	ENSG00000173898	66452719	66496697	ENSP00000432568	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
7	11	66452978	G	A	ENST00000309996	ENSG00000173898	66452719	66496697	ENSP00000311489	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	rs11828658	0.0314	-	-	-	-	-	het	2
8	11	66452978	G	A	ENST00000529997	ENSG00000173898	66452719	66496697	ENSP00000433593	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	rs11828658	0.0314	-	-	-	-	-	het	2
9	11	66452978	G	A	ENST00000533211	ENSG00000173898	66452719	66496697	ENSP00000432568	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	rs11828658	0.0314	-	-	-	-	-	het	2
10	11	66453457	A	G	ENST00000309996	ENSG00000173898	66452719	66496697	ENSP00000311489	SPTBN2	-1	SPTN2_HUMAN	c.7058T>C	p.M2353T	non-syn	NA	-	-	lod=223:547	DAMAGING	B	-	het	1
11	11	66453457	A	G	ENST00000528051	ENSG00000173898	66452719	66496697	-	SPTBN2	-1	-	c.239T>C	p.M80T	non-syn	NA	-	-	lod=223:547	DAMAGING	B	-	het	1
12	11	66453457	A	G	ENST00000529997	ENSG00000173898	66452719	66496697	ENSP00000433593	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=223:547	DAMAGING	B	-	het	1
13	11	66453457	A	G	ENST00000533211	ENSG00000173898	66452719	66496697	ENSP00000432568	SPTBN2	-1	SPTN2_HUMAN	c.7058T>C	p.M2353T	non-syn	NA	-	-	lod=223:547	DAMAGING	B	-	het	1
14	11	66453463	C	T	ENST00000309996	ENSG00000173898	66452719	66496697	ENSP00000311489	SPTBN2	-1	SPTN2_HUMAN	c.7052G>A	p.R2351Q	non-syn	NA	-	T=0/C=8590;T=1/C=4399;T=1/C=12989	lod=223:547	TOLERATED	P	-	het	1
15	11	66453463	C	T	ENST00000528051	ENSG00000173898	66452719	66496697	-	SPTBN2	-1	-	c.233G>A	p.R78Q	non-syn	NA	-	T=0/C=8590;T=1/C=4399;T=1/C=12989	lod=223:547	TOLERATED	P	-	het	1
16	11	66453463	C	T	ENST00000529997	ENSG00000173898	66452719	66496697	ENSP00000433593	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	NA	-	T=0/C=8590;T=1/C=4399;T=1/C=12989	lod=223:547	TOLERATED	P	-	het	1
17	11	66453463	C	T	ENST00000533211	ENSG00000173898	66452719	66496697	ENSP00000432568	SPTBN2	-1	SPTN2_HUMAN	c.7052G>A	p.R2351Q	non-syn	NA	-	T=0/C=8590;T=1/C=4399;T=1/C=12989	lod=223:547	TOLERATED	P	-	het	1
18	11	66453495	C	T	ENST00000309996	ENSG00000173898	66452719	66496697	ENSP00000311489	SPTBN2	-1	SPTN2_HUMAN	c.7020G>A	p.P2340P	syn	rs61741217	0.0367	T=1/C=8589;T=131/C=4269;T=132/C=12858	lod=36:352	-	-	-	het	4
19	11	66453495	C	T	ENST00000528051	ENSG00000173898	66452719	66496697	-	SPTBN2	-1	-	c.201G>A	p.P67P	syn	rs61741217	0.0367	T=1/C=8589;T=131/C=4269;T=132/C=12858	lod=36:352	-	-	-	het	4
20	11	66453495	C	T	ENST00000529997	ENSG00000173898	66452719	66496697	ENSP00000433593	SPTBN2	-1	SPTN2_HUMAN	-	-	3'_UTR	rs61741217	0.0367	T=1/C=8589;T=131/C=4269;T=132/C=12858	lod=36:352	-	-	-	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 SPTBN2 11:66452719..66496697 region Gbrowse