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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 RET:

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
ENSG00000165731	RET	1	69	361	ENSG00000165731	ENST00000355710	ENSP00000347942	ret proto-oncogene [Source:HGNC Symbol;Acc:9967]	10	43572475	43625799	1	q11.21	43572475	43625799	RET	RET-001	HGNC Symbol	HGNC transcript name	4	55.73	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5979	9967	RET	NM_020975	27525

MSeqDR Master Exome Data Set M1: 170 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	10	43572507	A	G	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	-	-	5'_UTR	rs10900296	0.7101	-	-	-	-	-	het	63
2	10	43572507	A	G	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	-	-	5'_UTR	rs10900296	0.7101	-	-	-	-	-	hom	104
3	10	43572511	C	A	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	-	-	5'_UTR	rs10900297	0.3707	-	-	-	-	-	het	107
4	10	43572511	C	A	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	-	-	5'_UTR	rs10900297	0.3707	-	-	-	-	-	hom	23
5	10	43572574	C	T	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	10	43572574	C	T	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
7	10	43572574	C	T	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	10	43572574	C	T	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
9	10	43572574	C	T	ENST00000498820	ENSG00000165731	43572475	43625799	ENSP00000419080	RET	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	10	43572574	C	T	ENST00000498820	ENSG00000165731	43572475	43625799	ENSP00000419080	RET	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
11	10	43595968	A	G	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	c.135A>G	p.A45A	syn	rs1800858	0.7265	G=6359/A=2241;G=4165/A=241;G=10524/A=2482	-	-	-	Hirschsprung disease, association with	hom	496
12	10	43595968	A	G	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	c.135A>G	p.A45A	syn	rs1800858	0.7265	G=6359/A=2241;G=4165/A=241;G=10524/A=2482	-	-	-	Hirschsprung disease, association with	het	333
13	10	43595968	A	G	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	c.135A>G	p.A45A	syn	rs1800858	0.7265	G=6359/A=2241;G=4165/A=241;G=10524/A=2482	-	-	-	Hirschsprung disease, association with	hom	496
14	10	43595968	A	G	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	c.135A>G	p.A45A	syn	rs1800858	0.7265	G=6359/A=2241;G=4165/A=241;G=10524/A=2482	-	-	-	Hirschsprung disease, association with	het	333
15	10	43595972	G	A	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	c.139G>A	p.G47S	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
16	10	43595972	G	A	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	c.139G>A	p.G47S	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
17	10	43595989	C	T	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	c.156C>T	p.Y52Y	syn	NA	-	-	lod=15:259	-	-	-	het	1
18	10	43595989	C	T	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	c.156C>T	p.Y52Y	syn	NA	-	-	lod=15:259	-	-	-	het	1
19	10	43595999	C	A	ENST00000340058	ENSG00000165731	43572475	43625799	ENSP00000344798	RET	1	RET_HUMAN	c.166C>A	p.L56M	non-syn	rs145633958	-	A=46/C=8554;A=2/C=4404;A=48/C=12958	lod=18:278	TOLERATED	B	HGMD	het	2
20	10	43595999	C	A	ENST00000355710	ENSG00000165731	43572475	43625799	ENSP00000347942	RET	1	RET_HUMAN	c.166C>A	p.L56M	non-syn	rs145633958	-	A=46/C=8554;A=2/C=4404;A=48/C=12958	lod=18:278	TOLERATED	B	HGMD	het	2

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Transcripts and variants in the surrounding RET 10:43572475..43625799 region Gbrowse