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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 ALG9:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	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	Seq region id
ENSG00000086848	ALG9	1	9	ENSG00000086848	ENST00000527228		ALG9, alpha-1,2-mannosyltransferase [Source:HGNC Symbol;Acc:15672]	11	111652919	111742305	-1	q23.1	111657008	111742305	ALG9	ALG9-006	HGNC Symbol	HGNC transcript name	17	40.69	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	79796	15672	ALG9	27504
ENSG00000258529	ALG9	1	9	ENSG00000258529	ENST00000527377		Alpha-1,2-mannosyltransferase ALG9 [Source:UniProtKB/TrEMBL;Acc:H3BSC6]	11	111657010	111750149	-1	q23.1	111741018	111747568	ALG9	ALG9-003	UniProtKB Gene Name	UniProt transcript name	3	40.88	protein_coding	processed_transcript	havana	havana	NOVEL	KNOWN	79796	15672		27504
ENSG00000262577	ALG9	1	9	ENSG00000262577	ENST00000586586	ENSP00000467014	ALG9, alpha-1,2-mannosyltransferase [Source:HGNC Symbol;Acc:15672]	HG388_HG400_PATCH	111652919	111742304	-1	q23.1	111657010	111680414	ALG9	ALG9-019	HGNC Symbol	HGNC transcript name	17	40.69	protein_coding	nonsense_mediated_decay	havana	havana	KNOWN	KNOWN	79796	15672	ALG9	1000658995
ENSG00000267229	ALG9	1	9	ENSG00000267229	ENST00000585398	ENSP00000466523		HG388_HG400_PATCH	111657010	111750144	-1	q23.1	111657010	111750144	ALG9	ALG9-001	UniProtKB Gene Name	UniProt transcript name	3	40.88	protein_coding	protein_coding	havana	havana	NOVEL	NOVEL	79796	15672		1000658995

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MSeqDR Master Exome Data Set M1: 336 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	111656576	T	A	ENST00000532425	ENSG00000086848	111652919	111742305	ENSP00000432442	ALG9	-1	-	-	-	3'_UTR	NA	-	-	lod=20:289	-	-	-	het	1
2	11	111656755	A	T	ENST00000532425	ENSG00000086848	111652919	111742305	ENSP00000432442	ALG9	-1	-	-	-	3'_UTR	NA	-	-	lod=32:340	-	-	-	het	1
3	11	111656919	C	T	ENST00000527212	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.578G>A	p.C193Y	non-syn	NA	-	-	lod=37:355	-	-	-	het	2
4	11	111657053	G	-CAGGGAGTCAGGT	ENST00000398006	ENSG00000086848	111652919	111742305	ENSP00000381090	ALG9	-1	ALG9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	11	111657053	G	-CAGGGAGTCAGGT	ENST00000524457	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.1943_1955del	p.C652NA	non-syn	NA	-	-	-	-	-	-	het	1
6	11	111657053	G	-CAGGGAGTCAGGT	ENST00000524671	ENSG00000086848	111652919	111742305	ENSP00000436798	ALG9	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	11	111657053	G	-CAGGGAGTCAGGT	ENST00000525910	ENSG00000086848	111652919	111742305	ENSP00000437211	ALG9	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	11	111657053	G	-CAGGGAGTCAGGT	ENST00000526272	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.476_488del	p.C163NA	non-syn	NA	-	-	-	-	-	-	het	1
9	11	111657053	G	-CAGGGAGTCAGGT	ENST00000527212	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.431_443del	p.C148NA	non-syn	NA	-	-	-	-	-	-	het	1
10	11	111657053	G	-CAGGGAGTCAGGT	ENST00000527228	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.2012_2024del	p.C675NA	non-syn	NA	-	-	-	-	-	-	het	1
11	11	111657053	G	-CAGGGAGTCAGGT	ENST00000531154	ENSG00000086848	111652919	111742305	ENSP00000435517	ALG9	-1	ALG9_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	11	111657053	G	-CAGGGAGTCAGGT	ENST00000532374	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.1960_1972del	p.A658NA	non-syn	NA	-	-	-	-	-	-	het	1
13	11	111668805	C	T	ENST00000525910	ENSG00000086848	111652919	111742305	ENSP00000437211	ALG9	-1	-	-	-	+13bp 5'_splice_site	rs613292	0.66111	-	-	-	-	-	het	95
14	11	111668805	C	T	ENST00000525910	ENSG00000086848	111652919	111742305	ENSP00000437211	ALG9	-1	-	-	-	+13bp 5'_splice_site	rs613292	0.66111	-	-	-	-	-	hom	85
15	11	111675869	A	G	ENST00000524671	ENSG00000086848	111652919	111742305	ENSP00000436798	ALG9	-1	-	-	-	3'_UTR	rs145740917	0.01346	-	-	-	-	-	het	11
16	11	111675869	A	G	ENST00000524671	ENSG00000086848	111652919	111742305	ENSP00000436798	ALG9	-1	-	-	-	3'_UTR	rs145740917	0.01346	-	-	-	-	-	hom	2
17	11	111675998	G	C	ENST00000524671	ENSG00000086848	111652919	111742305	ENSP00000436798	ALG9	-1	-	-	-	3'_UTR	rs79669801	0.00917	-	-	-	-	-	het	13
18	11	111706952	G	A	ENST00000398006	ENSG00000086848	111652919	111742305	ENSP00000381090	ALG9	-1	ALG9_HUMAN	c.1004C>T	p.P335L	non-syn	rs185149177	0.00182	A=16/G=8158;A=2/G=3706;A=18/G=11864	lod=576:648	TOLERATED	P	-	het	1
19	11	111706952	G	A	ENST00000524457	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.1569C>T	p.T523T	syn	rs185149177	0.00182	A=16/G=8158;A=2/G=3706;A=18/G=11864	lod=576:648	TOLERATED	P	-	het	1
20	11	111706952	G	A	ENST00000526272	ENSG00000086848	111652919	111742305	-	ALG9	-1	-	c.102C>T	p.T34T	syn	rs185149177	0.00182	A=16/G=8158;A=2/G=3706;A=18/G=11864	lod=576:648	TOLERATED	P	-	het	1

** 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 ALG9 11:111652919..111742305 region Gbrowse