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 SERPINI1:

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
ENSG00000163536	SERPINI1	0	0	4	ENSG00000163536	ENST00000472941	ENSP00000420133	serpin peptidase inhibitor, clade I (neuroserpin), member 1 [Source:HGNC Symbol;Acc:8943]	3	167453031	167543356	1	q26.1	167453031	167508390	SERPINI1	SERPINI1-003	HGNC Symbol	HGNC transcript name	7	36.84	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5274	8943	SERPINI1		27517

MSeqDR Master Exome Data Set M1: 81 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	3	167453039	T	C	ENST00000472941	ENSG00000163536	167453031	167543356	ENSP00000420133	SERPINI1	1	-	-	-	5'_UTR	rs9853967	0.719	-	-	-	-	-	het	5
2	3	167453271	G	A	ENST00000446050	ENSG00000163536	167453031	167543356	ENSP00000397373	SERPINI1	1	NEUS_HUMAN	-	-	5'_UTR	rs9834676	0.2256	-	-	-	-	-	het	1
3	3	167506937	C	G	ENST00000295777	ENSG00000163536	167453031	167543356	ENSP00000295777	SERPINI1	1	NEUS_HUMAN	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	het	208
4	3	167506937	C	G	ENST00000295777	ENSG00000163536	167453031	167543356	ENSP00000295777	SERPINI1	1	NEUS_HUMAN	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	hom	16
5	3	167506937	C	G	ENST00000446050	ENSG00000163536	167453031	167543356	ENSP00000397373	SERPINI1	1	NEUS_HUMAN	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	het	208
6	3	167506937	C	G	ENST00000446050	ENSG00000163536	167453031	167543356	ENSP00000397373	SERPINI1	1	NEUS_HUMAN	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	hom	16
7	3	167506937	C	G	ENST00000472747	ENSG00000163536	167453031	167543356	ENSP00000420561	SERPINI1	1	-	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	het	208
8	3	167506937	C	G	ENST00000472747	ENSG00000163536	167453031	167543356	ENSP00000420561	SERPINI1	1	-	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	hom	16
9	3	167506937	C	G	ENST00000472941	ENSG00000163536	167453031	167543356	ENSP00000420133	SERPINI1	1	-	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	het	208
10	3	167506937	C	G	ENST00000472941	ENSG00000163536	167453031	167543356	ENSP00000420133	SERPINI1	1	-	c.21C>G	p.F7L	non-syn	rs33917740	0.1667	G=758/C=7842;G=875/C=3531;G=1633/C=11373	lod=69:422	TOLERATED	B	-	hom	16
11	3	167506956	A	G	ENST00000295777	ENSG00000163536	167453031	167543356	ENSP00000295777	SERPINI1	1	NEUS_HUMAN	c.40A>G	p.S14G	non-syn	rs61735307	0.0043	G=0/A=8600;G=49/A=4357;G=49/A=12957	lod=69:422	DAMAGING	P	-	het	2
12	3	167506956	A	G	ENST00000446050	ENSG00000163536	167453031	167543356	ENSP00000397373	SERPINI1	1	NEUS_HUMAN	c.40A>G	p.S14G	non-syn	rs61735307	0.0043	G=0/A=8600;G=49/A=4357;G=49/A=12957	lod=69:422	DAMAGING	P	-	het	2
13	3	167506956	A	G	ENST00000472747	ENSG00000163536	167453031	167543356	ENSP00000420561	SERPINI1	1	-	c.40A>G	p.S14G	non-syn	rs61735307	0.0043	G=0/A=8600;G=49/A=4357;G=49/A=12957	lod=69:422	DAMAGING	P	-	het	2
14	3	167506956	A	G	ENST00000472941	ENSG00000163536	167453031	167543356	ENSP00000420133	SERPINI1	1	-	c.40A>G	p.S14G	non-syn	rs61735307	0.0043	G=0/A=8600;G=49/A=4357;G=49/A=12957	lod=69:422	DAMAGING	P	-	het	2
15	3	167506967	A	G	ENST00000295777	ENSG00000163536	167453031	167543356	ENSP00000295777	SERPINI1	1	NEUS_HUMAN	c.51A>G	p.T17T	syn	rs34582040	0.1524	G=758/A=7842;G=874/A=3532;G=1632/A=11374	-	-	-	-	het	201
16	3	167506967	A	G	ENST00000295777	ENSG00000163536	167453031	167543356	ENSP00000295777	SERPINI1	1	NEUS_HUMAN	c.51A>G	p.T17T	syn	rs34582040	0.1524	G=758/A=7842;G=874/A=3532;G=1632/A=11374	-	-	-	-	hom	15
17	3	167506967	A	G	ENST00000446050	ENSG00000163536	167453031	167543356	ENSP00000397373	SERPINI1	1	NEUS_HUMAN	c.51A>G	p.T17T	syn	rs34582040	0.1524	G=758/A=7842;G=874/A=3532;G=1632/A=11374	-	-	-	-	het	201
18	3	167506967	A	G	ENST00000446050	ENSG00000163536	167453031	167543356	ENSP00000397373	SERPINI1	1	NEUS_HUMAN	c.51A>G	p.T17T	syn	rs34582040	0.1524	G=758/A=7842;G=874/A=3532;G=1632/A=11374	-	-	-	-	hom	15
19	3	167506967	A	G	ENST00000472747	ENSG00000163536	167453031	167543356	ENSP00000420561	SERPINI1	1	-	c.51A>G	p.T17T	syn	rs34582040	0.1524	G=758/A=7842;G=874/A=3532;G=1632/A=11374	-	-	-	-	het	201
20	3	167506967	A	G	ENST00000472747	ENSG00000163536	167453031	167543356	ENSP00000420561	SERPINI1	1	-	c.51A>G	p.T17T	syn	rs34582040	0.1524	G=758/A=7842;G=874/A=3532;G=1632/A=11374	-	-	-	-	hom	15

** 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 SERPINI1 3:167453031..167543356 region Gbrowse