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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 NPC2:

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
ENSG00000119655	NPC2	1	0	16	ENSG00000119655	ENST00000434013	ENSP00000412103	Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]	14	74942895	74960880	-1	q24.3	74942895	74960010	NPC2	NPC2-003	HGNC Symbol	HGNC transcript name	9	43.65	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	10577	14537	NPC2		27520

MSeqDR Master Exome Data Set M1: 99 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	14	74942913	A	G	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	-	-	3'_UTR	rs17100451	0.1762	-	-	-	-	-	het	52
2	14	74942913	A	G	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	-	-	3'_UTR	rs17100451	0.1762	-	-	-	-	-	hom	9
3	14	74942988	A	C	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	14	74943060	G	C	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
5	14	74943266	G	A	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	c.471C>T	p.C157C	syn	NA	-	-	-	-	-	-	het	1
6	14	74943295	T	C	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	c.442A>G	p.M148V	non-syn	rs8021664	0.3206	-	-	TOLERATED	-	-	hom	29
7	14	74943295	T	C	ENST00000434013	ENSG00000119655	74942895	74960880	ENSP00000412103	NPC2	-1	-	c.442A>G	p.M148V	non-syn	rs8021664	0.3206	-	-	TOLERATED	-	-	het	223
8	14	74945974	G	C	ENST00000541064	ENSG00000119655	74942895	74960880	ENSP00000442488	NPC2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	14	74946217	G	T	ENST00000541064	ENSG00000119655	74942895	74960880	ENSP00000442488	NPC2	-1	-	-	-	3'_UTR	rs79196171	0.0252	-	-	-	-	-	het	3
10	14	74946254	C	T	ENST00000541064	ENSG00000119655	74942895	74960880	ENSP00000442488	NPC2	-1	-	-	-	3'_UTR	rs192494193	0.00548	-	-	-	-	-	het	1
11	14	74946629	G	T	ENST00000541064	ENSG00000119655	74942895	74960880	ENSP00000442488	NPC2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	14	74946682	G	C	ENST00000238633	ENSG00000119655	74942895	74960880	ENSP00000238633	NPC2	-1	-	-	-	3'_UTR	rs113587712	0.01004	-	-	-	-	-	het	11
13	14	74946682	G	C	ENST00000541064	ENSG00000119655	74942895	74960880	ENSP00000442488	NPC2	-1	-	-	-	3'_UTR	rs113587712	0.01004	-	-	-	-	-	het	11
14	14	74946682	G	C	ENST00000554482	ENSG00000119655	74942895	74960880	ENSP00000451314	NPC2	-1	-	-	-	3'_UTR	rs113587712	0.01004	-	-	-	-	-	het	11
15	14	74946682	G	C	ENST00000555619	ENSG00000119655	74942895	74960880	ENSP00000451112	NPC2	-1	NPC2_HUMAN	-	-	3'_UTR	rs113587712	0.01004	-	-	-	-	-	het	11
16	14	74946706	G	A	ENST00000238633	ENSG00000119655	74942895	74960880	ENSP00000238633	NPC2	-1	-	-	-	3'_UTR	rs75936194	0.00554	-	-	-	-	-	het	7
17	14	74946706	G	A	ENST00000541064	ENSG00000119655	74942895	74960880	ENSP00000442488	NPC2	-1	-	-	-	3'_UTR	rs75936194	0.00554	-	-	-	-	-	het	7
18	14	74946706	G	A	ENST00000554482	ENSG00000119655	74942895	74960880	ENSP00000451314	NPC2	-1	-	-	-	3'_UTR	rs75936194	0.00554	-	-	-	-	-	het	7
19	14	74946706	G	A	ENST00000555619	ENSG00000119655	74942895	74960880	ENSP00000451112	NPC2	-1	NPC2_HUMAN	-	-	3'_UTR	rs75936194	0.00554	-	-	-	-	-	het	7
20	14	74946968	A	G	ENST00000238633	ENSG00000119655	74942895	74960880	ENSP00000238633	NPC2	-1	-	-	-	3'_UTR	rs80216539	0.0029	G=0/A=8600;G=46/A=4360;G=46/A=12960	-	-	-	-	hom	1

** 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 NPC2 14:74942895..74960880 region Gbrowse