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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 RPGRIP1L:

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
ENSG00000103494	RPGRIP1L	0	0	56	ENSG00000103494	ENST00000262135	ENSP00000262135	RPGRIP1-like [Source:HGNC Symbol;Acc:29168]	16	53631595	53737850	-1	q12.2	53631595	53737801	RPGRIP1L	RPGRIP1L-003	HGNC Symbol	HGNC transcript name	11	37.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23322	29168	RPGRIP1L	NM_001127897	27514

MSeqDR Master Exome Data Set M1: 253 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	16	53634295	C	T	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs1946155	0.4407	-	lod=1092:717	-	-	-	het	40
2	16	53634295	C	T	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs1946155	0.4407	-	lod=1092:717	-	-	-	hom	16
3	16	53634361	C	T	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs188203905	0.0014	-	lod=50:387	-	-	-	het	1
4	16	53634665	G	A	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	NA	-	-	lod=2574:809	-	-	-	het	1
5	16	53634679	G	T	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs145688896	0.00092	-	lod=2574:809	-	-	-	het	2
6	16	53635251	A	C	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs3760008	0.4268	-	-	-	-	-	het	1
7	16	53635251	A	C	ENST00000379925	ENSG00000103494	53631595	53737850	ENSP00000369257	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs3760008	0.4268	-	-	-	-	-	het	1
8	16	53635497	G	C	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs35669682	0.00662	-	lod=1916:777	-	-	-	het	2
9	16	53635497	G	C	ENST00000379925	ENSG00000103494	53631595	53737850	ENSP00000369257	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs35669682	0.00662	-	lod=1916:777	-	-	-	het	2
10	16	53635933	A	T	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs4784319	0.4313	-	-	-	-	-	hom	47
11	16	53635933	A	T	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs4784319	0.4313	-	-	-	-	-	het	165
12	16	53635933	A	T	ENST00000379925	ENSG00000103494	53631595	53737850	ENSP00000369257	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs4784319	0.4313	-	-	-	-	-	hom	47
13	16	53635933	A	T	ENST00000379925	ENSG00000103494	53631595	53737850	ENSP00000369257	RPGRIP1L	-1	FTM_HUMAN	-	-	3'_UTR	rs4784319	0.4313	-	-	-	-	-	het	165
14	16	53635933	A	T	ENST00000563746	ENSG00000103494	53631595	53737850	ENSP00000457889	RPGRIP1L	-1	-	-	-	3'_UTR	rs4784319	0.4313	-	-	-	-	-	hom	47
15	16	53635933	A	T	ENST00000563746	ENSG00000103494	53631595	53737850	ENSP00000457889	RPGRIP1L	-1	-	-	-	3'_UTR	rs4784319	0.4313	-	-	-	-	-	het	165
16	16	53636000	G	A	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	c.3696C>T	p.D1232D	syn	rs4784320	0.2343	A=320/G=8280;A=1170/G=3226;A=1490/G=11506	-	-	-	-	het	64
17	16	53636000	G	A	ENST00000262135	ENSG00000103494	53631595	53737850	ENSP00000262135	RPGRIP1L	-1	FTM_HUMAN	c.3696C>T	p.D1232D	syn	rs4784320	0.2343	A=320/G=8280;A=1170/G=3226;A=1490/G=11506	-	-	-	-	hom	2
18	16	53636000	G	A	ENST00000379925	ENSG00000103494	53631595	53737850	ENSP00000369257	RPGRIP1L	-1	FTM_HUMAN	c.3936C>T	p.D1312D	syn	rs4784320	0.2343	A=320/G=8280;A=1170/G=3226;A=1490/G=11506	-	-	-	-	het	64
19	16	53636000	G	A	ENST00000379925	ENSG00000103494	53631595	53737850	ENSP00000369257	RPGRIP1L	-1	FTM_HUMAN	c.3936C>T	p.D1312D	syn	rs4784320	0.2343	A=320/G=8280;A=1170/G=3226;A=1490/G=11506	-	-	-	-	hom	2
20	16	53636000	G	A	ENST00000563746	ENSG00000103494	53631595	53737850	ENSP00000457889	RPGRIP1L	-1	-	c.3834C>T	p.D1278D	syn	rs4784320	0.2343	A=320/G=8280;A=1170/G=3226;A=1490/G=11506	-	-	-	-	het	64

** 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 RPGRIP1L 16:53631595..53737850 region Gbrowse