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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 ASCL1:

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
ENSG00000139352	ASCL1	0	0	11	ENSG00000139352	ENST00000266744	ENSP00000266744	achaete-scute family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:738]	12	103351464	103354294	1	q23.2	103351464	103354294	ASCL1	ASCL1-001	HGNC Symbol	HGNC transcript name	1	51.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	429	738	ASCL1	NM_004316	27519

MSeqDR Master Exome Data Set M1: 26 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	103351826	T	C	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	-	-	5'_UTR	rs9782	0.2837	-	-	-	-	-	het	44
2	12	103351826	T	C	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	-	-	5'_UTR	rs9782	0.2837	-	-	-	-	-	hom	28
3	12	103352122	A	-CGGCCGCAGCCGCGG	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.101_115del	p.T34NA	non-syn	NA	-	-	lod=337:591	-	-	-	het	1
4	12	103352145	A	G	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.123A>G	p.A41A	syn	NA	-	-	lod=29:329	-	-	-	het	5
5	12	103352145	A	G	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.123A>G	p.A41A	syn	NA	-	-	lod=29:329	-	-	-	hom	1
6	12	103352160	A	T	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.138A>T	p.A46A	syn	NA	-	-	lod=1833:772	-	-	-	het	5
7	12	103352171	C	+A	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.149_150insA	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	8
8	12	103352171	C	+GCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.149_150insGCA	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	118
9	12	103352171	C	+GCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.149_150insGCA	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	hom	2
10	12	103352171	C	-GCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.150_152del	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	9
11	12	103352171	C	+GCAGCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.149_150insGCAGCA	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	3
12	12	103352171	C	-GCAGCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.150_155del	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	1
13	12	103352171	C	+GCAGCAGCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.149_150insGCAGCAGCA	p.A50NA	non-syn	rs3832799	-	-	lod=1833:772	-	-	-	het	1
14	12	103352171	C	-GCAGCAGCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.150_158del	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	1
15	12	103352171	C	-GCAGCAGCAGCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.150_161del	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	1
16	12	103352171	C	-GCAGCAGCAGCAGCA	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.150_164del	p.A50NA	non-syn	NA	-	-	lod=1833:772	-	-	-	het	1
17	12	103352206	C	+AGG	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.184_185insAGG	p.Q62NA	non-syn	NA	-	-	lod=1833:772	-	-	-	hom	1
18	12	103352211	G	C	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.189G>C	p.A63A	syn	NA	0.0156	C=2/G=5798;C=59/G=2685;C=61/G=8483	lod=1833:772	-	-	-	het	1
19	12	103352274	G	A	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.252G>A	p.K84K	syn	NA	-	-	lod=1833:772	-	-	-	het	1
20	12	103352601	C	T	ENST00000266744	ENSG00000139352	103351464	103354294	ENSP00000266744	ASCL1	1	ASCL1_HUMAN	c.579C>T	p.I193I	syn	NA	-	-	lod=802:684	-	-	-	het	2

** 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 ASCL1 12:103351464..103354294 region Gbrowse