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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 PIKFYVE:

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
ENSG00000115020	PIKFYVE	0	0	4	ENSG00000115020	ENST00000392202	ENSP00000376038	phosphoinositide kinase, FYVE finger containing [Source:HGNC Symbol;Acc:23785]	2	209130991	209223475	1	q34	209130991	209170273	PIKFYVE	PIKFYVE-002	HGNC Symbol	HGNC transcript name	9	37.08	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	200576	23785	PIKFYVE	NM_152671	27508

MSeqDR Master Exome Data Set M1: 283 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	2	209136264	G	A	ENST00000264380	ENSG00000115020	209130991	209223475	ENSP00000264380	PIKFYVE	1	FYV1_HUMAN	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
2	2	209136264	G	A	ENST00000308862	ENSG00000115020	209130991	209223475	ENSP00000308715	PIKFYVE	1	FYV1_HUMAN	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
3	2	209136264	G	A	ENST00000392202	ENSG00000115020	209130991	209223475	ENSP00000376038	PIKFYVE	1	FYV1_HUMAN	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
4	2	209136264	G	A	ENST00000407449	ENSG00000115020	209130991	209223475	ENSP00000384356	PIKFYVE	1	FYV1_HUMAN	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
5	2	209136264	G	A	ENST00000422495	ENSG00000115020	209130991	209223475	ENSP00000414477	PIKFYVE	1	-	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
6	2	209136264	G	A	ENST00000443896	ENSG00000115020	209130991	209223475	ENSP00000407692	PIKFYVE	1	-	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
7	2	209136264	G	A	ENST00000452564	ENSG00000115020	209130991	209223475	ENSP00000405736	PIKFYVE	1	-	c.21G>A	p.T7T	syn	NA	-	-	lod=47:381	-	-	-	het	2
8	2	209138297	C	T	ENST00000264380	ENSG00000115020	209130991	209223475	ENSP00000264380	PIKFYVE	1	FYV1_HUMAN	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
9	2	209138297	C	T	ENST00000308862	ENSG00000115020	209130991	209223475	ENSP00000308715	PIKFYVE	1	FYV1_HUMAN	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
10	2	209138297	C	T	ENST00000392202	ENSG00000115020	209130991	209223475	ENSP00000376038	PIKFYVE	1	FYV1_HUMAN	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
11	2	209138297	C	T	ENST00000407449	ENSG00000115020	209130991	209223475	ENSP00000384356	PIKFYVE	1	FYV1_HUMAN	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
12	2	209138297	C	T	ENST00000422495	ENSG00000115020	209130991	209223475	ENSP00000414477	PIKFYVE	1	-	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
13	2	209138297	C	T	ENST00000443896	ENSG00000115020	209130991	209223475	ENSP00000407692	PIKFYVE	1	-	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
14	2	209138297	C	T	ENST00000452564	ENSG00000115020	209130991	209223475	ENSP00000405736	PIKFYVE	1	-	-	-	-11bp 3'_splice_site	rs4675744	0.0207	T=2/C=8598;T=2/C=4404;T=4/C=13002	-	-	-	-	het	7
15	2	209138414	A	G	ENST00000264380	ENSG00000115020	209130991	209223475	ENSP00000264380	PIKFYVE	1	FYV1_HUMAN	c.279A>G	p.K93K	syn	rs36031854	0.0768	G=4/A=8596;G=465/A=3941;G=469/A=12537	lod=30:333	-	-	-	het	9
16	2	209138414	A	G	ENST00000308862	ENSG00000115020	209130991	209223475	ENSP00000308715	PIKFYVE	1	FYV1_HUMAN	c.279A>G	p.K93K	syn	rs36031854	0.0768	G=4/A=8596;G=465/A=3941;G=469/A=12537	lod=30:333	-	-	-	het	9
17	2	209138414	A	G	ENST00000392202	ENSG00000115020	209130991	209223475	ENSP00000376038	PIKFYVE	1	FYV1_HUMAN	c.279A>G	p.K93K	syn	rs36031854	0.0768	G=4/A=8596;G=465/A=3941;G=469/A=12537	lod=30:333	-	-	-	het	9
18	2	209138414	A	G	ENST00000407449	ENSG00000115020	209130991	209223475	ENSP00000384356	PIKFYVE	1	FYV1_HUMAN	c.279A>G	p.K93K	syn	rs36031854	0.0768	G=4/A=8596;G=465/A=3941;G=469/A=12537	lod=30:333	-	-	-	het	9
19	2	209138414	A	G	ENST00000422495	ENSG00000115020	209130991	209223475	ENSP00000414477	PIKFYVE	1	-	c.279A>G	p.K93K	syn	rs36031854	0.0768	G=4/A=8596;G=465/A=3941;G=469/A=12537	lod=30:333	-	-	-	het	9
20	2	209138414	A	G	ENST00000443896	ENSG00000115020	209130991	209223475	ENSP00000407692	PIKFYVE	1	-	c.279A>G	p.K93K	syn	rs36031854	0.0768	G=4/A=8596;G=465/A=3941;G=469/A=12537	lod=30:333	-	-	-	het	9

** 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 PIKFYVE 2:209130991..209223475 region Gbrowse