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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 UBR1:

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
ENSG00000159459	UBR1	0	0	4	ENSG00000159459	ENST00000290650	ENSP00000290650	ubiquitin protein ligase E3 component n-recognin 1 [Source:HGNC Symbol;Acc:16808]	15	43235095	43398311	-1	q15.2	43235095	43398299	UBR1	UBR1-001	HGNC Symbol	HGNC transcript name	12	39.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	197131	16808	UBR1	NM_174916	27521

MSeqDR Master Exome Data Set M1: 202 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	15	43235149	T	C	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1061:714	-	-	-	het	1
2	15	43235149	T	C	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1061:714	-	-	-	het	1
3	15	43235197	A	G	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1061:714	-	-	-	het	2
4	15	43235197	A	G	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1061:714	-	-	-	het	2
5	15	43235305	T	A	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs79751709	0.0239	-	lod=1061:714	-	-	-	het	1
6	15	43235305	T	A	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs79751709	0.0239	-	lod=1061:714	-	-	-	het	1
7	15	43235584	A	G	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs17776090	0.01633	-	-	-	-	-	het	31
8	15	43235584	A	G	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs17776090	0.01633	-	-	-	-	-	het	31
9	15	43235632	A	G	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	15	43235632	A	G	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	15	43236124	T	A	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	15	43236124	T	A	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	15	43236219	A	-AAG	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	15	43236219	A	-AAG	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	15	43236311	C	G	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	15	43236311	C	G	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	15	43236612	C	T	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs7178567	0.86775	-	-	-	-	-	het	126
18	15	43236612	C	T	ENST00000290650	ENSG00000159459	43235095	43398311	ENSP00000290650	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs7178567	0.86775	-	-	-	-	-	hom	527
19	15	43236612	C	T	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs7178567	0.86775	-	-	-	-	-	het	126
20	15	43236612	C	T	ENST00000382177	ENSG00000159459	43235095	43398311	ENSP00000371612	UBR1	-1	UBR1_HUMAN	-	-	3'_UTR	rs7178567	0.86775	-	-	-	-	-	hom	527

** 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 UBR1 15:43235095..43398311 region Gbrowse