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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 INS:

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
ENSG00000254647	INS	1	1	1	ENSG00000254647	ENST00000397262	ENSP00000380432	insulin [Source:HGNC Symbol;Acc:6081]	11	2181009	2182571	-1	p15.5	2181009	2182434	INS	INS-003	HGNC Symbol	HGNC transcript name	5	64.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3630	6081	INS	NM_001185098	27504

MSeqDR Master Exome Data Set M1: 83 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	2181054	C	T	ENST00000250971	ENSG00000254647	2181009	2182571	ENSP00000250971	INS	-1	INS_HUMAN	-	-	3'_UTR	NA	-	-	-	TOLERATED	-	-	het	1
2	11	2181054	C	T	ENST00000381330	ENSG00000254647	2181009	2182571	ENSP00000370731	INS	-1	INS_HUMAN	-	-	3'_UTR	NA	-	-	-	TOLERATED	-	-	het	1
3	11	2181054	C	T	ENST00000397262	ENSG00000254647	2181009	2182571	ENSP00000380432	INS	-1	INS_HUMAN	-	-	3'_UTR	NA	-	-	-	TOLERATED	-	-	het	1
4	11	2181054	C	T	ENST00000421783	ENSG00000254647	2181009	2182571	ENSP00000408400	INS	-1	-	c.236G>A	p.R79H	non-syn	NA	-	-	-	TOLERATED	-	-	het	1
5	11	2181060	T	G	ENST00000250971	ENSG00000254647	2181009	2182571	ENSP00000250971	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	hom	513
6	11	2181060	T	G	ENST00000250971	ENSG00000254647	2181009	2182571	ENSP00000250971	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	het	372
7	11	2181060	T	G	ENST00000381330	ENSG00000254647	2181009	2182571	ENSP00000370731	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	hom	513
8	11	2181060	T	G	ENST00000381330	ENSG00000254647	2181009	2182571	ENSP00000370731	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	het	372
9	11	2181060	T	G	ENST00000397262	ENSG00000254647	2181009	2182571	ENSP00000380432	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	hom	513
10	11	2181060	T	G	ENST00000397262	ENSG00000254647	2181009	2182571	ENSP00000380432	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	het	372
11	11	2181060	T	G	ENST00000421783	ENSG00000254647	2181009	2182571	ENSP00000408400	INS	-1	-	c.230A>C	p.H77P	non-syn	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	hom	513
12	11	2181060	T	G	ENST00000421783	ENSG00000254647	2181009	2182571	ENSP00000408400	INS	-1	-	c.230A>C	p.H77P	non-syn	rs3842753	0.6799	G=5919/T=2665;G=1174/T=3196;G=7093/T=5861	-	TOLERATED	-	-	het	372
13	11	2181073	G	A	ENST00000250971	ENSG00000254647	2181009	2182571	ENSP00000250971	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	het	293
14	11	2181073	G	A	ENST00000250971	ENSG00000254647	2181009	2182571	ENSP00000250971	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	hom	34
15	11	2181073	G	A	ENST00000381330	ENSG00000254647	2181009	2182571	ENSP00000370731	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	het	293
16	11	2181073	G	A	ENST00000381330	ENSG00000254647	2181009	2182571	ENSP00000370731	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	hom	34
17	11	2181073	G	A	ENST00000397262	ENSG00000254647	2181009	2182571	ENSP00000380432	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	het	293
18	11	2181073	G	A	ENST00000397262	ENSG00000254647	2181009	2182571	ENSP00000380432	INS	-1	INS_HUMAN	-	-	3'_UTR	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	hom	34
19	11	2181073	G	A	ENST00000421783	ENSG00000254647	2181009	2182571	ENSP00000408400	INS	-1	-	c.217C>T	p.R73C	non-syn	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	het	293
20	11	2181073	G	A	ENST00000421783	ENSG00000254647	2181009	2182571	ENSP00000408400	INS	-1	-	c.217C>T	p.R73C	non-syn	rs3842752	0.2342	A=1897/G=6687;A=413/G=3969;A=2310/G=10656	-	DAMAGING	-	Prostate cancer, reduced risk, association with	hom	34

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Transcripts and variants in the surrounding INS 11:2181009..2182571 region Gbrowse