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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 HNF1A:

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
ENSG00000135100	HNF1A	1	7	90	ENSG00000135100	ENST00000257555	ENSP00000257555	HNF1 homeobox A [Source:HGNC Symbol;Acc:11621]	12	121416346	121440315	1	q24.31	121416346	121440315	HNF1A	HNF1A-001	HGNC Symbol	HGNC transcript name	14	52.2	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6927	11621	HNF1A		27519

MSeqDR Master Exome Data Set M1: 531 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	12	121416396	G	C	ENST00000257555	ENSG00000135100	121416346	121440315	ENSP00000257555	HNF1A	1	HNF1A_HUMAN	-	-	5'_UTR	NA	-	-	lod=658:663	-	-	-	het	2
2	12	121416396	G	C	ENST00000400024	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.26G>C	p.G9A	non-syn	NA	-	-	lod=658:663	-	-	-	het	2
3	12	121416400	A	+GGGTTGG	ENST00000257555	ENSG00000135100	121416346	121440315	ENSP00000257555	HNF1A	1	HNF1A_HUMAN	-	-	5'_UTR	NA	-	-	lod=658:663	-	-	-	het	1
4	12	121416400	A	+GGGTTGG	ENST00000400024	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.30_31insGGGTTGG	p.G11NA	non-syn	NA	-	-	lod=658:663	-	-	-	het	1
5	12	121416543	G	A	ENST00000257555	ENSG00000135100	121416346	121440315	ENSP00000257555	HNF1A	1	HNF1A_HUMAN	-	-	5'_UTR	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
6	12	121416543	G	A	ENST00000400024	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.173G>A	p.R58Q	non-syn	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
7	12	121416543	G	A	ENST00000402929	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.107G>A	p.R36Q	non-syn	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
8	12	121416543	G	A	ENST00000538626	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.90G>A	p.P30P	syn	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
9	12	121416543	G	A	ENST00000538646	ENSG00000135100	121416346	121440315	ENSP00000443964	HNF1A	1	-	-	-	5'_UTR	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
10	12	121416543	G	A	ENST00000541924	ENSG00000135100	121416346	121440315	ENSP00000440361	HNF1A	1	-	-	-	5'_UTR	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
11	12	121416543	G	A	ENST00000544574	ENSG00000135100	121416346	121440315	ENSP00000438565	HNF1A	1	-	-	-	5'_UTR	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
12	12	121416543	G	A	ENST00000560968	ENSG00000135100	121416346	121440315	ENSP00000453965	HNF1A	1	-	c.115G>A	p.G39R	non-syn	NA	-	A=1/G=8425;A=13/G=4283;A=14/G=12708	-	-	-	-	het	2
13	12	121416622	C	G	ENST00000257555	ENSG00000135100	121416346	121440315	ENSP00000257555	HNF1A	1	HNF1A_HUMAN	c.51C>G	p.L17L	syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	hom	226
14	12	121416622	C	G	ENST00000257555	ENSG00000135100	121416346	121440315	ENSP00000257555	HNF1A	1	HNF1A_HUMAN	c.51C>G	p.L17L	syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	het	400
15	12	121416622	C	G	ENST00000400024	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.252C>G	p.L84L	syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	hom	226
16	12	121416622	C	G	ENST00000400024	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.252C>G	p.L84L	syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	het	400
17	12	121416622	C	G	ENST00000402929	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.186C>G	p.L62L	syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	hom	226
18	12	121416622	C	G	ENST00000402929	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.186C>G	p.L62L	syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	het	400
19	12	121416622	C	G	ENST00000538626	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.169C>G	p.R57G	non-syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	hom	226
20	12	121416622	C	G	ENST00000538626	ENSG00000135100	121416346	121440315	-	HNF1A	1	-	c.169C>G	p.R57G	non-syn	rs1169289	0.4801	G=3915/C=4673;G=1508/C=2894;G=5423/C=7567	lod=202:536	-	-	-	het	400

** 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.

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Transcripts and variants in the surrounding HNF1A 12:121416346..121440315 region Gbrowse