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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 ANKRD11:

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
ENSG00000167522	ANKRD11	0	0	13	ENSG00000167522	ENST00000564553		ankyrin repeat domain 11 [Source:HGNC Symbol;Acc:21316]	16	89334038	89556969	-1	q24.3	89357380	89379844	ANKRD11	ANKRD11-007	HGNC Symbol	HGNC transcript name	16	51.19	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	29123	21316	ANKRD11		27514

MSeqDR Master Exome Data Set M1: 462 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	16	89334388	T	A	ENST00000301030	ENSG00000167522	89334038	89556969	ENSP00000301030	ANKRD11	-1	ANR11_HUMAN	-	-	3'_UTR	rs3852752	0.209	-	-	-	-	-	het	1
2	16	89334388	T	A	ENST00000378330	ENSG00000167522	89334038	89556969	ENSP00000367581	ANKRD11	-1	ANR11_HUMAN	-	-	3'_UTR	rs3852752	0.209	-	-	-	-	-	het	1
3	16	89337300	T	G	ENST00000301030	ENSG00000167522	89334038	89556969	ENSP00000301030	ANKRD11	-1	ANR11_HUMAN	c.7731A>C	p.S2577S	syn	NA	-	-	lod=69:422	-	-	-	het	1
4	16	89337300	T	G	ENST00000330736	ENSG00000167522	89334038	89556969	ENSP00000330815	ANKRD11	-1	-	-	-	3'_UTR	NA	-	-	lod=69:422	-	-	-	het	1
5	16	89337300	T	G	ENST00000378330	ENSG00000167522	89334038	89556969	ENSP00000367581	ANKRD11	-1	ANR11_HUMAN	c.7731A>C	p.S2577S	syn	NA	-	-	lod=69:422	-	-	-	het	1
6	16	89337300	T	G	ENST00000562194	ENSG00000167522	89334038	89556969	ENSP00000458043	ANKRD11	-1	-	c.412A>C	p.S138R	non-syn	NA	-	-	lod=69:422	-	-	-	het	1
7	16	89341214	G	A	ENST00000301030	ENSG00000167522	89334038	89556969	ENSP00000301030	ANKRD11	-1	ANR11_HUMAN	-	-	+8bp 5'_splice_site	rs200599560	-	A=5/G=8595;A=0/G=4396;A=5/G=12991	-	-	-	-	het	4
8	16	89341214	G	A	ENST00000330736	ENSG00000167522	89334038	89556969	ENSP00000330815	ANKRD11	-1	-	-	-	+8bp 5'_splice_site	rs200599560	-	A=5/G=8595;A=0/G=4396;A=5/G=12991	-	-	-	-	het	4
9	16	89341214	G	A	ENST00000378330	ENSG00000167522	89334038	89556969	ENSP00000367581	ANKRD11	-1	ANR11_HUMAN	-	-	+8bp 5'_splice_site	rs200599560	-	A=5/G=8595;A=0/G=4396;A=5/G=12991	-	-	-	-	het	4
10	16	89341214	G	A	ENST00000562194	ENSG00000167522	89334038	89556969	ENSP00000458043	ANKRD11	-1	-	-	-	+8bp 5'_splice_site	rs200599560	-	A=5/G=8595;A=0/G=4396;A=5/G=12991	-	-	-	-	het	4
11	16	89341300	G	A	ENST00000301030	ENSG00000167522	89334038	89556969	ENSP00000301030	ANKRD11	-1	ANR11_HUMAN	c.7635C>T	p.I2545I	syn	NA	-	A=1/G=8599;A=0/G=4396;A=1/G=12995	lod=134:493	-	-	-	het	1
12	16	89341300	G	A	ENST00000330736	ENSG00000167522	89334038	89556969	ENSP00000330815	ANKRD11	-1	-	-	-	3'_UTR	NA	-	A=1/G=8599;A=0/G=4396;A=1/G=12995	lod=134:493	-	-	-	het	1
13	16	89341300	G	A	ENST00000378330	ENSG00000167522	89334038	89556969	ENSP00000367581	ANKRD11	-1	ANR11_HUMAN	c.7635C>T	p.I2545I	syn	NA	-	A=1/G=8599;A=0/G=4396;A=1/G=12995	lod=134:493	-	-	-	het	1
14	16	89341300	G	A	ENST00000562194	ENSG00000167522	89334038	89556969	ENSP00000458043	ANKRD11	-1	-	c.316C>T	p.R106C	non-syn	NA	-	A=1/G=8599;A=0/G=4396;A=1/G=12995	lod=134:493	-	-	-	het	1
15	16	89341604	A	G	ENST00000301030	ENSG00000167522	89334038	89556969	ENSP00000301030	ANKRD11	-1	ANR11_HUMAN	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
16	16	89341604	A	G	ENST00000330736	ENSG00000167522	89334038	89556969	ENSP00000330815	ANKRD11	-1	-	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
17	16	89341604	A	G	ENST00000378330	ENSG00000167522	89334038	89556969	ENSP00000367581	ANKRD11	-1	ANR11_HUMAN	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
18	16	89341604	A	G	ENST00000562194	ENSG00000167522	89334038	89556969	ENSP00000458043	ANKRD11	-1	-	-	-	-5bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
19	16	89344201	C	G	ENST00000564736	ENSG00000167522	89334038	89556969	-	ANKRD11	-1	-	c.1924G>C	p.G642R	non-syn	rs62070780	0.2297	-	-	-	-	-	het	1
20	16	89344938	G	A	ENST00000564736	ENSG00000167522	89334038	89556969	-	ANKRD11	-1	-	c.1187C>T	p.P396L	non-syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ANKRD11 16:89334038..89556969 region Gbrowse