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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 POC1B:

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
ENSG00000139323	POC1B	0	0	3	ENSG00000139323	ENST00000549591		POC1 centriolar protein B [Source:HGNC Symbol;Acc:30836]	12	89813495	89919801	-1	q21.33	89813495	89823237	POC1B	POC1B-008	HGNC Symbol	HGNC transcript name	16	39.79	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	282809	30836	POC1B		27519

MSeqDR Master Exome Data Set M1: 204 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	89814615	G	A	ENST00000313546	ENSG00000139323	89813495	89919801	ENSP00000323302	POC1B	-1	POC1B_HUMAN	-	-	3'_UTR	rs111556856	0.02251	-	-	-	-	-	het	9
2	12	89814615	G	A	ENST00000313546	ENSG00000139323	89813495	89919801	ENSP00000323302	POC1B	-1	POC1B_HUMAN	-	-	3'_UTR	rs111556856	0.02251	-	-	-	-	-	hom	1
3	12	89814615	G	A	ENST00000378528	ENSG00000139323	89813495	89919801	ENSP00000367789	POC1B	-1	-	-	-	3'_UTR	rs111556856	0.02251	-	-	-	-	-	het	9
4	12	89814615	G	A	ENST00000378528	ENSG00000139323	89813495	89919801	ENSP00000367789	POC1B	-1	-	-	-	3'_UTR	rs111556856	0.02251	-	-	-	-	-	hom	1
5	12	89814615	G	A	ENST00000393179	ENSG00000139323	89813495	89919801	ENSP00000376877	POC1B	-1	-	-	-	3'_UTR	rs111556856	0.02251	-	-	-	-	-	het	9
6	12	89814615	G	A	ENST00000393179	ENSG00000139323	89813495	89919801	ENSP00000376877	POC1B	-1	-	-	-	3'_UTR	rs111556856	0.02251	-	-	-	-	-	hom	1
7	12	89814615	G	A	ENST00000546740	ENSG00000139323	89813495	89919801	-	POC1B	-1	-	c.860C>T	p.P287L	non-syn	rs111556856	0.02251	-	-	-	-	-	het	9
8	12	89814615	G	A	ENST00000546740	ENSG00000139323	89813495	89919801	-	POC1B	-1	-	c.860C>T	p.P287L	non-syn	rs111556856	0.02251	-	-	-	-	-	hom	1
9	12	89814615	G	A	ENST00000549591	ENSG00000139323	89813495	89919801	-	POC1B	-1	-	c.4720C>T	p.L1574L	syn	rs111556856	0.02251	-	-	-	-	-	het	9
10	12	89814615	G	A	ENST00000549591	ENSG00000139323	89813495	89919801	-	POC1B	-1	-	c.4720C>T	p.L1574L	syn	rs111556856	0.02251	-	-	-	-	-	hom	1
11	12	89814685	A	-TCACT	ENST00000313546	ENSG00000139323	89813495	89919801	ENSP00000323302	POC1B	-1	POC1B_HUMAN	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	hom	1
12	12	89814685	A	-TCACT	ENST00000313546	ENSG00000139323	89813495	89919801	ENSP00000323302	POC1B	-1	POC1B_HUMAN	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	het	5
13	12	89814685	A	-TCACT	ENST00000378528	ENSG00000139323	89813495	89919801	ENSP00000367789	POC1B	-1	-	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	hom	1
14	12	89814685	A	-TCACT	ENST00000378528	ENSG00000139323	89813495	89919801	ENSP00000367789	POC1B	-1	-	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	het	5
15	12	89814685	A	-TCACT	ENST00000393179	ENSG00000139323	89813495	89919801	ENSP00000376877	POC1B	-1	-	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	hom	1
16	12	89814685	A	-TCACT	ENST00000393179	ENSG00000139323	89813495	89919801	ENSP00000376877	POC1B	-1	-	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	het	5
17	12	89814685	A	-TCACT	ENST00000546740	ENSG00000139323	89813495	89919801	-	POC1B	-1	-	c.785_789del	p.*263NA	non-syn	rs150256169	-	-	-	-	-	-	hom	1
18	12	89814685	A	-TCACT	ENST00000546740	ENSG00000139323	89813495	89919801	-	POC1B	-1	-	c.785_789del	p.*263NA	non-syn	rs150256169	-	-	-	-	-	-	het	5
19	12	89814685	A	-TCACT	ENST00000549035	ENSG00000139323	89813495	89919801	ENSP00000447916	POC1B	-1	-	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	hom	1
20	12	89814685	A	-TCACT	ENST00000549035	ENSG00000139323	89813495	89919801	ENSP00000447916	POC1B	-1	-	-	-	3'_UTR	rs150256169	-	-	-	-	-	-	het	5

** 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 POC1B 12:89813495..89919801 region Gbrowse