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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 RBBP8:

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
ENSG00000101773	RBBP8	0	0	19	ENSG00000101773	ENST00000583700	ENSP00000464628	retinoblastoma binding protein 8 [Source:HGNC Symbol;Acc:9891]	18	20378224	20606451	1	q11.2	20378224	20516846	RBBP8	RBBP8-011	HGNC Symbol	HGNC transcript name	16	37.83	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5932	9891	RBBP8		27512

MSeqDR Master Exome Data Set M1: 171 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	18	20513305	G	A	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	18	20513350	C	A	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs142828641	0.0066	-	-	-	-	-	het	1
3	18	20513354	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	18	20513361	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	18	20513374	C	G	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	18	20513374	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs7227168	0.2809	-	-	-	-	-	het	151
7	18	20513374	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs7227168	0.2809	-	-	-	-	-	hom	10
8	18	20513386	G	C	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
9	18	20513401	G	C	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
10	18	20513432	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs116097101	0.0866	-	-	-	-	-	het	28
11	18	20513432	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs116097101	0.0866	-	-	-	-	-	hom	2
12	18	20513492	G	A	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs144559748	0.021	-	-	-	-	-	het	1
13	18	20513518	C	T	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs148449357	0.0036	-	-	-	-	-	het	2
14	18	20513542	T	-CTCTTTAC	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	+15bp 5'_splice_site	rs71890133	-	-	-	-	-	-	het	4
15	18	20516758	T	C	ENST00000327155	ENSG00000101773	20378224	20606451	ENSP00000323050	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs181038099	0.00456	-	lod=27:321	-	-	-	het	4
16	18	20516758	T	C	ENST00000360790	ENSG00000101773	20378224	20606451	ENSP00000354024	RBBP8	1	-	-	-	5'_UTR	rs181038099	0.00456	-	lod=27:321	-	-	-	het	4
17	18	20516758	T	C	ENST00000399721	ENSG00000101773	20378224	20606451	ENSP00000382627	RBBP8	1	-	-	-	5'_UTR	rs181038099	0.00456	-	lod=27:321	-	-	-	het	4
18	18	20516758	T	C	ENST00000399722	ENSG00000101773	20378224	20606451	ENSP00000382628	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs181038099	0.00456	-	lod=27:321	-	-	-	het	4
19	18	20516758	T	C	ENST00000399725	ENSG00000101773	20378224	20606451	ENSP00000382630	RBBP8	1	COM1_HUMAN	-	-	5'_UTR	rs181038099	0.00456	-	lod=27:321	-	-	-	het	4
20	18	20516758	T	C	ENST00000577588	ENSG00000101773	20378224	20606451	ENSP00000464284	RBBP8	1	-	-	-	5'_UTR	rs181038099	0.00456	-	lod=27:321	-	-	-	het	4

** 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 RBBP8 18:20378224..20606451 region Gbrowse