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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 ARL6:

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
ENSG00000113966	ARL6	0	0	9	ENSG00000113966	ENST00000493990	ENSP00000418057	ADP-ribosylation factor-like 6 [Source:HGNC Symbol;Acc:13210]	3	97483365	97519953	1	q11.2	97483365	97519953	ARL6	ARL6-002	HGNC Symbol	HGNC transcript name	8	34.36	protein_coding	nonsense_mediated_decay	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84100	13210	ARL6		27517

MSeqDR Master Exome Data Set M1: 69 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	3	97499441	T	C	ENST00000335979	ENSG00000113966	97483365	97519953	ENSP00000337722	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	het	39
2	3	97499441	T	C	ENST00000335979	ENSG00000113966	97483365	97519953	ENSP00000337722	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	hom	1
3	3	97499441	T	C	ENST00000394206	ENSG00000113966	97483365	97519953	ENSP00000377756	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	het	39
4	3	97499441	T	C	ENST00000394206	ENSG00000113966	97483365	97519953	ENSP00000377756	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	hom	1
5	3	97499441	T	C	ENST00000462412	ENSG00000113966	97483365	97519953	ENSP00000418740	ARL6	1	-	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	het	39
6	3	97499441	T	C	ENST00000462412	ENSG00000113966	97483365	97519953	ENSP00000418740	ARL6	1	-	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	hom	1
7	3	97499441	T	C	ENST00000463745	ENSG00000113966	97483365	97519953	ENSP00000419619	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	het	39
8	3	97499441	T	C	ENST00000463745	ENSG00000113966	97483365	97519953	ENSP00000419619	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	hom	1
9	3	97499441	T	C	ENST00000493990	ENSG00000113966	97483365	97519953	ENSP00000418057	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	het	39
10	3	97499441	T	C	ENST00000493990	ENSG00000113966	97483365	97519953	ENSP00000418057	ARL6	1	ARL6_HUMAN	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	hom	1
11	3	97499441	T	C	ENST00000496713	ENSG00000113966	97483365	97519953	-	ARL6	1	-	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	het	39
12	3	97499441	T	C	ENST00000496713	ENSG00000113966	97483365	97519953	-	ARL6	1	-	-	-	-18bp 3'_splice_site	rs77906443	0.0663	C=142/T=8450;C=431/T=3975;C=573/T=12425	-	-	-	-	hom	1
13	3	97503861	A	G	ENST00000335979	ENSG00000113966	97483365	97519953	ENSP00000337722	ARL6	1	ARL6_HUMAN	c.317A>G	p.K106R	non-syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
14	3	97503861	A	G	ENST00000394206	ENSG00000113966	97483365	97519953	ENSP00000377756	ARL6	1	ARL6_HUMAN	c.317A>G	p.K106R	non-syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
15	3	97503861	A	G	ENST00000462412	ENSG00000113966	97483365	97519953	ENSP00000418740	ARL6	1	-	c.317A>G	p.K106R	non-syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
16	3	97503861	A	G	ENST00000463745	ENSG00000113966	97483365	97519953	ENSP00000419619	ARL6	1	ARL6_HUMAN	c.317A>G	p.K106R	non-syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
17	3	97503861	A	G	ENST00000476753	ENSG00000113966	97483365	97519953	ENSP00000419934	ARL6	1	-	c.1A>G	p.K1E	non-syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
18	3	97503861	A	G	ENST00000493990	ENSG00000113966	97483365	97519953	ENSP00000418057	ARL6	1	ARL6_HUMAN	c.317A>G	p.K106R	non-syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
19	3	97503861	A	G	ENST00000496713	ENSG00000113966	97483365	97519953	-	ARL6	1	-	c.555A>G	p.Q185Q	syn	NA	-	-	lod=594:652	TOLERATED	D	-	het	1
20	3	97506937	C	T	ENST00000335979	ENSG00000113966	97483365	97519953	ENSP00000337722	ARL6	1	ARL6_HUMAN	c.453C>T	p.N151N	syn	NA	-	-	lod=707:670	-	-	-	het	3

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ARL6 3:97483365..97519953 region Gbrowse