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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 MRPL3:

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
ENSG00000114686	MRPL3	1	5	1	ENSG00000114686	ENST00000264995	ENSP00000264995	mitochondrial ribosomal protein L3 [Source:HGNC Symbol;Acc:10379]	3	131181056	131221827	-1	q22.1	131181056	131221813	MRPL3	MRPL3-001	HGNC Symbol	HGNC transcript name	10	35.94	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	11222	10379	MRPL3	NM_007208	27517

MSeqDR Master Exome Data Set M1: 144 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	3	131181144	T	G	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
2	3	131181144	T	G	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	3	131181428	A	G	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
4	3	131181428	A	G	ENST00000425847	ENSG00000114686	131181056	131221827	ENSP00000398536	MRPL3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
5	3	131181428	A	G	ENST00000510043	ENSG00000114686	131181056	131221827	-	MRPL3	-1	-	c.610T>C	p.Y204H	non-syn	NA	-	-	-	-	-	-	het	9
6	3	131181428	A	G	ENST00000511168	ENSG00000114686	131181056	131221827	ENSP00000424107	MRPL3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
7	3	131181481	G	A	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	-	-	3'_UTR	rs143594337	0.0042	-	-	-	-	-	het	1
8	3	131181481	G	A	ENST00000425847	ENSG00000114686	131181056	131221827	ENSP00000398536	MRPL3	-1	-	-	-	3'_UTR	rs143594337	0.0042	-	-	-	-	-	het	1
9	3	131181481	G	A	ENST00000510043	ENSG00000114686	131181056	131221827	-	MRPL3	-1	-	c.557C>T	p.P186L	non-syn	rs143594337	0.0042	-	-	-	-	-	het	1
10	3	131181481	G	A	ENST00000511168	ENSG00000114686	131181056	131221827	ENSP00000424107	MRPL3	-1	-	-	-	3'_UTR	rs143594337	0.0042	-	-	-	-	-	het	1
11	3	131181490	G	A	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	3	131181490	G	A	ENST00000425847	ENSG00000114686	131181056	131221827	ENSP00000398536	MRPL3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	3	131181490	G	A	ENST00000510043	ENSG00000114686	131181056	131221827	-	MRPL3	-1	-	c.548C>T	p.S183L	non-syn	NA	-	-	-	-	-	-	het	1
14	3	131181490	G	A	ENST00000511168	ENSG00000114686	131181056	131221827	ENSP00000424107	MRPL3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	3	131181581	T	C	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	c.1033A>G	p.I345V	non-syn	rs143176048	-	C=3/T=8597;C=1/T=4405;C=4/T=13002	-	TOLERATED	B	-	het	2
16	3	131181581	T	C	ENST00000425847	ENSG00000114686	131181056	131221827	ENSP00000398536	MRPL3	-1	-	c.1114A>G	p.I372V	non-syn	rs143176048	-	C=3/T=8597;C=1/T=4405;C=4/T=13002	-	TOLERATED	B	-	het	2
17	3	131181581	T	C	ENST00000510043	ENSG00000114686	131181056	131221827	-	MRPL3	-1	-	c.457A>G	p.I153V	non-syn	rs143176048	-	C=3/T=8597;C=1/T=4405;C=4/T=13002	-	TOLERATED	B	-	het	2
18	3	131181581	T	C	ENST00000511168	ENSG00000114686	131181056	131221827	ENSP00000424107	MRPL3	-1	-	c.1076A>G	p.Y359C	non-syn	rs143176048	-	C=3/T=8597;C=1/T=4405;C=4/T=13002	-	TOLERATED	B	-	het	2
19	3	131181584	A	T	ENST00000264995	ENSG00000114686	131181056	131221827	ENSP00000264995	MRPL3	-1	RM03_HUMAN	c.1030T>A	p.S344T	non-syn	NA	-	-	lod=27:321	TOLERATED	D	-	het	1
20	3	131181584	A	T	ENST00000425847	ENSG00000114686	131181056	131221827	ENSP00000398536	MRPL3	-1	-	c.1111T>A	p.S371T	non-syn	NA	-	-	lod=27:321	TOLERATED	D	-	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 MRPL3 3:131181056..131221827 region Gbrowse