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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 ENSG00000204264:

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
ENSG00000204264	PSMB8	0	0	1	ENSG00000204264	ENST00000490613		proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	6	32808494	32812480	-1	p21.32	32808494	32809811	PSMB8	PSMB8-005	HGNC Symbol	HGNC transcript name	5	50.56	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8		27515

MSeqDR Master Exome Data Set M1: 91 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	6	32808596	C	T	ENST00000374881	ENSG00000204264	32808494	32812480	ENSP00000364015	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	rs115433903	0.00187	-	-	-	-	-	het	8
2	6	32808596	C	T	ENST00000374882	ENSG00000204264	32808494	32812480	ENSP00000364016	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	rs115433903	0.00187	-	-	-	-	-	het	8
3	6	32808596	C	T	ENST00000395339	ENSG00000204264	32808494	32812480	ENSP00000378748	PSMB8	-1	-	-	-	3'_UTR	rs115433903	0.00187	-	-	-	-	-	het	8
4	6	32808596	C	T	ENST00000490613	ENSG00000204264	32808494	32812480	-	PSMB8	-1	-	c.733G>A	p.G245S	non-syn	rs115433903	0.00187	-	-	-	-	-	het	8
5	6	32808696	G	A	ENST00000374881	ENSG00000204264	32808494	32812480	ENSP00000364015	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	rs3200158	0.0176	A=0/G=8600;A=70/G=4336;A=70/G=12936	-	-	-	-	het	2
6	6	32808696	G	A	ENST00000374882	ENSG00000204264	32808494	32812480	ENSP00000364016	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	rs3200158	0.0176	A=0/G=8600;A=70/G=4336;A=70/G=12936	-	-	-	-	het	2
7	6	32808696	G	A	ENST00000395339	ENSG00000204264	32808494	32812480	ENSP00000378748	PSMB8	-1	-	-	-	3'_UTR	rs3200158	0.0176	A=0/G=8600;A=70/G=4336;A=70/G=12936	-	-	-	-	het	2
8	6	32808696	G	A	ENST00000490613	ENSG00000204264	32808494	32812480	-	PSMB8	-1	-	c.633C>T	p.V211V	syn	rs3200158	0.0176	A=0/G=8600;A=70/G=4336;A=70/G=12936	-	-	-	-	het	2
9	6	32808728	C	T	ENST00000374881	ENSG00000204264	32808494	32812480	ENSP00000364015	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	NA	-	T=6/C=8594;T=2/C=4404;T=8/C=12998	-	-	-	-	het	6
10	6	32808728	C	T	ENST00000374882	ENSG00000204264	32808494	32812480	ENSP00000364016	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	NA	-	T=6/C=8594;T=2/C=4404;T=8/C=12998	-	-	-	-	het	6
11	6	32808728	C	T	ENST00000395339	ENSG00000204264	32808494	32812480	ENSP00000378748	PSMB8	-1	-	-	-	3'_UTR	NA	-	T=6/C=8594;T=2/C=4404;T=8/C=12998	-	-	-	-	het	6
12	6	32808728	C	T	ENST00000490613	ENSG00000204264	32808494	32812480	-	PSMB8	-1	-	c.601G>A	p.G201S	non-syn	NA	-	T=6/C=8594;T=2/C=4404;T=8/C=12998	-	-	-	-	het	6
13	6	32808730	C	G	ENST00000374881	ENSG00000204264	32808494	32812480	ENSP00000364015	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	1
14	6	32808730	C	G	ENST00000374882	ENSG00000204264	32808494	32812480	ENSP00000364016	PSMB8	-1	PSB8_HUMAN	-	-	3'_UTR	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	1
15	6	32808730	C	G	ENST00000395339	ENSG00000204264	32808494	32812480	ENSP00000378748	PSMB8	-1	-	-	-	3'_UTR	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	1
16	6	32808730	C	G	ENST00000490613	ENSG00000204264	32808494	32812480	-	PSMB8	-1	-	c.599G>C	p.G200A	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	-	-	-	-	het	1
17	6	32808763	C	T	ENST00000374881	ENSG00000204264	32808494	32812480	ENSP00000364015	PSMB8	-1	PSB8_HUMAN	c.792G>A	p.L264L	syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=68:420	-	-	-	het	1
18	6	32808763	C	T	ENST00000374882	ENSG00000204264	32808494	32812480	ENSP00000364016	PSMB8	-1	PSB8_HUMAN	c.804G>A	p.L268L	syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=68:420	-	-	-	het	1
19	6	32808763	C	T	ENST00000395339	ENSG00000204264	32808494	32812480	ENSP00000378748	PSMB8	-1	-	c.732G>A	p.L244L	syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=68:420	-	-	-	het	1
20	6	32808763	C	T	ENST00000490613	ENSG00000204264	32808494	32812480	-	PSMB8	-1	-	c.566G>A	p.C189Y	non-syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=68:420	-	-	-	het	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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Transcripts and variants in the surrounding PSMB8 6:32808494..32812480 region Gbrowse