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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 RNF216:

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
ENSG00000011275	RNF216	0	0	9	ENSG00000011275	ENST00000425013	ENSP00000404602	ring finger protein 216 [Source:HGNC Symbol;Acc:21698]	7	5659678	5821370	-1	p22.1	5659678	5821327	RNF216	RNF216-001	HGNC Symbol	HGNC transcript name	9	45.52	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54476	21698	RNF216	NM_207111	27506

MSeqDR Master Exome Data Set M1: 255 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	7	5659715	G	C	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs116952741	0.01644	-	lod=214:543	-	-	-	het	33
2	7	5659715	G	C	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs116952741	0.01644	-	lod=214:543	-	-	-	hom	1
3	7	5659756	G	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	7	5659758	A	G	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	7	5659784	G	C	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	lod=62:410	-	-	-	het	1
6	7	5659799	G	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	7	5659814	C	T	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	lod=84:443	-	-	-	het	2
8	7	5659815	G	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs138928771	0.0187	-	lod=84:443	-	-	-	het	1
9	7	5659819	C	-TTG	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	lod=84:443	-	-	-	het	1
10	7	5659852	T	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs79215819	0.0391	-	-	-	-	-	het	16
11	7	5659852	T	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs79215819	0.0391	-	-	-	-	-	hom	1
12	7	5659898	C	T	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	lod=206:539	-	-	-	het	1
13	7	5659904	C	T	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	lod=206:539	-	-	-	het	1
14	7	5659993	C	T	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	7	5660032	T	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	7	5660047	C	T	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs77248118	0.0735	-	-	-	-	-	het	57
17	7	5660057	T	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs852442	0.3404	-	-	-	-	-	het	76
18	7	5660057	T	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs852442	0.3404	-	-	-	-	-	hom	8
19	7	5660084	A	G	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
20	7	5660188	G	A	ENST00000425013	ENSG00000011275	5659678	5821370	ENSP00000404602	RNF216	-1	RN216_HUMAN	-	-	3'_UTR	rs11974054	0.0637	-	-	-	-	-	het	12

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Transcripts and variants in the surrounding RNF216 7:5659678..5821370 region Gbrowse