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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 PROM1:

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
ENSG00000007062	PROM1	0	0	26	ENSG00000007062	ENST00000514967	ENSP00000423793	prominin 1 [Source:HGNC Symbol;Acc:9454]	4	15964699	16086001	-1	p15.32	16077487	16084231	PROM1	PROM1-011	HGNC Symbol	HGNC transcript name	21	43.17	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	8842	9454	PROM1		27524

MSeqDR Master Exome Data Set M1: 497 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	4	15964763	C	T	ENST00000503884	ENSG00000007062	15964699	16086001	ENSP00000423860	PROM1	-1	-	-	-	3'_UTR	rs4698432	0.38046	T=3214/C=5386;T=849/C=3557;T=4063/C=8943	-	-	-	-	het	428
2	4	15964763	C	T	ENST00000503884	ENSG00000007062	15964699	16086001	ENSP00000423860	PROM1	-1	-	-	-	3'_UTR	rs4698432	0.38046	T=3214/C=5386;T=849/C=3557;T=4063/C=8943	-	-	-	-	hom	144
3	4	15964792	G	A	ENST00000503884	ENSG00000007062	15964699	16086001	ENSP00000423860	PROM1	-1	-	-	-	-10bp 3'_splice_site	rs116291487	0.0581	A=8/G=8592;A=256/G=4150;A=264/G=12742	-	-	-	-	het	1
4	4	15972666	C	A	ENST00000447510	ENSG00000007062	15964699	16086001	ENSP00000415481	PROM1	-1	PROM1_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
5	4	15972666	C	A	ENST00000503884	ENSG00000007062	15964699	16086001	ENSP00000423860	PROM1	-1	-	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
6	4	15972666	C	A	ENST00000505450	ENSG00000007062	15964699	16086001	ENSP00000426090	PROM1	-1	PROM1_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
7	4	15972666	C	A	ENST00000508167	ENSG00000007062	15964699	16086001	ENSP00000427346	PROM1	-1	PROM1_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
8	4	15972666	C	A	ENST00000510224	ENSG00000007062	15964699	16086001	ENSP00000426809	PROM1	-1	PROM1_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
9	4	15972666	C	A	ENST00000513448	ENSG00000007062	15964699	16086001	-	PROM1	-1	-	c.903G>T	p.E301D	non-syn	NA	-	-	lod=24:309	-	-	-	het	1
10	4	15972666	C	A	ENST00000513946	ENSG00000007062	15964699	16086001	ENSP00000424738	PROM1	-1	-	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
11	4	15972666	C	A	ENST00000539194	ENSG00000007062	15964699	16086001	ENSP00000443620	PROM1	-1	PROM1_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
12	4	15972666	C	A	ENST00000540805	ENSG00000007062	15964699	16086001	ENSP00000438045	PROM1	-1	PROM1_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
13	4	15972905	T	C	ENST00000513448	ENSG00000007062	15964699	16086001	-	PROM1	-1	-	c.664A>G	p.M222V	non-syn	rs11735976	0.23007	-	-	-	-	-	hom	51
14	4	15972905	T	C	ENST00000513448	ENSG00000007062	15964699	16086001	-	PROM1	-1	-	c.664A>G	p.M222V	non-syn	rs11735976	0.23007	-	-	-	-	-	het	216
15	4	15973030	A	-G	ENST00000513448	ENSG00000007062	15964699	16086001	-	PROM1	-1	-	c.538_538del	p.L180NA	non-syn	NA	-	-	-	-	-	-	het	1
16	4	15977823	A	C	ENST00000543373	ENSG00000007062	15964699	16086001	ENSP00000445526	PROM1	-1	PROM1_HUMAN	-	-	-5bp 3'_splice_site	rs3796860	0.27223	-	-	-	-	-	het	76
17	4	15977823	A	C	ENST00000543373	ENSG00000007062	15964699	16086001	ENSP00000445526	PROM1	-1	PROM1_HUMAN	-	-	-5bp 3'_splice_site	rs3796860	0.27223	-	-	-	-	-	hom	18
18	4	15977828	C	G	ENST00000543373	ENSG00000007062	15964699	16086001	ENSP00000445526	PROM1	-1	PROM1_HUMAN	-	-	-10bp 3'_splice_site	rs3796859	0.27322	-	-	-	-	-	het	76
19	4	15977828	C	G	ENST00000543373	ENSG00000007062	15964699	16086001	ENSP00000445526	PROM1	-1	PROM1_HUMAN	-	-	-10bp 3'_splice_site	rs3796859	0.27322	-	-	-	-	-	hom	18
20	4	15981529	T	C	ENST00000447510	ENSG00000007062	15964699	16086001	ENSP00000415481	PROM1	-1	PROM1_HUMAN	-	-	-2bp 3'_splice_site	NA	-	C=3/T=7127;C=0/T=3184;C=3/T=10311	lod=121:482	-	-	-	het	2

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding PROM1 4:15964699..16086001 region Gbrowse