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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 PSMB8:

Ensembl Gene ID	Associated Gene Name	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	Seq region id
ENSG00000204264	PSMB8	1	ENSG00000204264	ENST00000484003		proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	6	32808494	32812480	-1	p21.32	32808798	32812428	PSMB8	PSMB8-003	HGNC Symbol	HGNC transcript name	5	50.56	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27515
ENSG00000230669	PSMB8	1	ENSG00000230669	ENST00000474687		proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_APD	32792101	32796087	-1	p21.32	32792405	32796035	PSMB8	PSMB8-003	HGNC Symbol	HGNC transcript name	5	50.51	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27795
ENSG00000235715	PSMB8	1	ENSG00000235715	ENST00000498341		proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_COX	32730817	32734804	-1	p21.32	32731122	32734752	PSMB8	PSMB8-003	HGNC Symbol	HGNC transcript name	5	50.58	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27796
ENSG00000230034	PSMB8	1	ENSG00000230034	ENST00000446762	ENSP00000406878	proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_DBB	32786475	32790461	-1	p21.32	32786475	32789805	PSMB8	PSMB8-002	HGNC Symbol	HGNC transcript name	6	50.46	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27797
ENSG00000236443	PSMB8	1	ENSG00000236443	ENST00000427919	ENSP00000406913	proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_MANN	32962293	32966279	-1	p21.32	32962293	32965596	PSMB8	PSMB8-004	HGNC Symbol	HGNC transcript name	5	50.56	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27798
ENSG00000226201	PSMB8	1	ENSG00000226201	ENST00000488953		proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_MCF	32841974	32845960	-1	p21.32	32842278	32845908	PSMB8	PSMB8-003	HGNC Symbol	HGNC transcript name	5	50.54	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27799
ENSG00000206298	PSMB8	1	ENSG00000206298	ENST00000399630	ENSP00000382538	proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_QBL	32737204	32741190	-1	p21.32	32737204	32740507	PSMB8	PSMB8-004	HGNC Symbol	HGNC transcript name	5	50.56	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5696	9545	PSMB8	27800
ENSG00000231631	PSMB8	1	ENSG00000231631	ENST00000435978	ENSP00000414731	proteasome (prosome, macropain) subunit, beta type, 8 [Source:HGNC Symbol;Acc:9545]	HSCHR6_MHC_SSTO	32898409	32902343	-1	p21.32	32898409	32902343	PSMB8	PSMB8-001	HGNC Symbol	HGNC transcript name	5	50.37	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5696	9545	PSMB8	27801

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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

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Transcripts and variants in the surrounding PSMB8 6:32808494..32812480 region Gbrowse