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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 SERPINF2:

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
ENSG00000167711	SERPINF2	0	0	2	ENSG00000167711	ENST00000453066	ENSP00000402286	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 [Source:HGNC Symbol;Acc:9075]	17	1646130	1658562	1	p13.3	1646130	1651941	SERPINF2	SERPINF2-002	HGNC Symbol	HGNC transcript name	5	57.07	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5345	9075	SERPINF2		27509

MSeqDR Master Exome Data Set M1: 149 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	17	1648294	C	T	ENST00000324015	ENSG00000167711	1646130	1658562	ENSP00000321853	SERPINF2	1	A2AP_HUMAN	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	het	310
2	17	1648294	C	T	ENST00000324015	ENSG00000167711	1646130	1658562	ENSP00000321853	SERPINF2	1	A2AP_HUMAN	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	hom	31
3	17	1648294	C	T	ENST00000382061	ENSG00000167711	1646130	1658562	ENSP00000371493	SERPINF2	1	A2AP_HUMAN	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	het	310
4	17	1648294	C	T	ENST00000382061	ENSG00000167711	1646130	1658562	ENSP00000371493	SERPINF2	1	A2AP_HUMAN	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	hom	31
5	17	1648294	C	T	ENST00000450523	ENSG00000167711	1646130	1658562	ENSP00000403877	SERPINF2	1	A2AP_HUMAN	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	het	310
6	17	1648294	C	T	ENST00000450523	ENSG00000167711	1646130	1658562	ENSP00000403877	SERPINF2	1	A2AP_HUMAN	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	hom	31
7	17	1648294	C	T	ENST00000453066	ENSG00000167711	1646130	1658562	ENSP00000402286	SERPINF2	1	-	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	het	310
8	17	1648294	C	T	ENST00000453066	ENSG00000167711	1646130	1658562	ENSP00000402286	SERPINF2	1	-	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	hom	31
9	17	1648294	C	T	ENST00000453723	ENSG00000167711	1646130	1658562	ENSP00000402056	SERPINF2	1	-	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	het	310
10	17	1648294	C	T	ENST00000453723	ENSG00000167711	1646130	1658562	ENSP00000402056	SERPINF2	1	-	c.5C>T	p.A2V	non-syn	rs2070862	0.2302	T=1902/C=6698;T=1065/C=3341;T=2967/C=10039	lod=96:457	DAMAGING	B	-	hom	31
11	17	1648349	C	T	ENST00000324015	ENSG00000167711	1646130	1658562	ENSP00000321853	SERPINF2	1	A2AP_HUMAN	c.60C>T	p.S20S	syn	NA	-	G=3/C=8597;G=0/C=4404;G=3/C=13001	-	-	-	-	het	1
12	17	1648349	C	T	ENST00000382061	ENSG00000167711	1646130	1658562	ENSP00000371493	SERPINF2	1	A2AP_HUMAN	c.60C>T	p.S20S	syn	NA	-	G=3/C=8597;G=0/C=4404;G=3/C=13001	-	-	-	-	het	1
13	17	1648349	C	T	ENST00000450523	ENSG00000167711	1646130	1658562	ENSP00000403877	SERPINF2	1	A2AP_HUMAN	c.60C>T	p.S20S	syn	NA	-	G=3/C=8597;G=0/C=4404;G=3/C=13001	-	-	-	-	het	1
14	17	1648349	C	T	ENST00000453066	ENSG00000167711	1646130	1658562	ENSP00000402286	SERPINF2	1	-	c.60C>T	p.S20S	syn	NA	-	G=3/C=8597;G=0/C=4404;G=3/C=13001	-	-	-	-	het	1
15	17	1648349	C	T	ENST00000453723	ENSG00000167711	1646130	1658562	ENSP00000402056	SERPINF2	1	-	c.60C>T	p.S20S	syn	NA	-	G=3/C=8597;G=0/C=4404;G=3/C=13001	-	-	-	-	het	1
16	17	1648502	C	T	ENST00000324015	ENSG00000167711	1646130	1658562	ENSP00000321853	SERPINF2	1	A2AP_HUMAN	c.97C>T	p.R33W	non-syn	rs2070863	0.198	T=1705/C=6805;T=894/C=3468;T=2599/C=10273	-	DAMAGING	P	Slower APCE cleavage time, association with	het	329
17	17	1648502	C	T	ENST00000324015	ENSG00000167711	1646130	1658562	ENSP00000321853	SERPINF2	1	A2AP_HUMAN	c.97C>T	p.R33W	non-syn	rs2070863	0.198	T=1705/C=6805;T=894/C=3468;T=2599/C=10273	-	DAMAGING	P	Slower APCE cleavage time, association with	hom	67
18	17	1648502	C	T	ENST00000382061	ENSG00000167711	1646130	1658562	ENSP00000371493	SERPINF2	1	A2AP_HUMAN	c.97C>T	p.R33W	non-syn	rs2070863	0.198	T=1705/C=6805;T=894/C=3468;T=2599/C=10273	-	DAMAGING	P	Slower APCE cleavage time, association with	het	329
19	17	1648502	C	T	ENST00000382061	ENSG00000167711	1646130	1658562	ENSP00000371493	SERPINF2	1	A2AP_HUMAN	c.97C>T	p.R33W	non-syn	rs2070863	0.198	T=1705/C=6805;T=894/C=3468;T=2599/C=10273	-	DAMAGING	P	Slower APCE cleavage time, association with	hom	67
20	17	1648502	C	T	ENST00000450523	ENSG00000167711	1646130	1658562	ENSP00000403877	SERPINF2	1	A2AP_HUMAN	c.97C>T	p.R33W	non-syn	rs2070863	0.198	T=1705/C=6805;T=894/C=3468;T=2599/C=10273	-	DAMAGING	P	Slower APCE cleavage time, association with	het	329

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Transcripts and variants in the surrounding SERPINF2 17:1646130..1658562 region Gbrowse