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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 TRIM32:

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
ENSG00000119401	TRIM32	0	0	0	ENSG00000119401	ENST00000373983	ENSP00000363095	tripartite motif containing 32 [Source:HGNC Symbol;Acc:16380]	9	119449581	119463579	1	q33.1	119449609	119463579	TRIM32	TRIM32-001	HGNC Symbol	HGNC transcript name	3	43.3	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	22954	16380	TRIM32		27518

MSeqDR Master Exome Data Set M1: 84 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	9	119449609	G	C	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	-	-	5'_UTR	rs12342207	0.348	-	-	-	-	-	het	109
2	9	119449609	G	C	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	-	-	5'_UTR	rs12342207	0.348	-	-	-	-	-	hom	38
3	9	119449609	G	C	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	-	-	5'_UTR	rs12342207	0.348	-	-	-	-	-	het	109
4	9	119449609	G	C	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	-	-	5'_UTR	rs12342207	0.348	-	-	-	-	-	hom	38
5	9	119460027	T	G	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	c.6T>G	p.A2A	syn	rs141352486	-	G=0/T=8600;G=13/T=4393;G=13/T=12993	-	-	-	-	het	1
6	9	119460027	T	G	ENST00000411410	ENSG00000119401	119449581	119463579	ENSP00000412603	TRIM32	1	-	c.6T>G	p.A2A	syn	rs141352486	-	G=0/T=8600;G=13/T=4393;G=13/T=12993	-	-	-	-	het	1
7	9	119460027	T	G	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	c.6T>G	p.A2A	syn	rs141352486	-	G=0/T=8600;G=13/T=4393;G=13/T=12993	-	-	-	-	het	1
8	9	119460297	C	T	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	c.276C>T	p.S92S	syn	rs140589523	-	T=6/C=8594;T=4/C=4402;T=10/C=12996	lod=103:464	-	-	-	het	1
9	9	119460297	C	T	ENST00000411410	ENSG00000119401	119449581	119463579	ENSP00000412603	TRIM32	1	-	c.276C>T	p.S92S	syn	rs140589523	-	T=6/C=8594;T=4/C=4402;T=10/C=12996	lod=103:464	-	-	-	het	1
10	9	119460297	C	T	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	c.276C>T	p.S92S	syn	rs140589523	-	T=6/C=8594;T=4/C=4402;T=10/C=12996	lod=103:464	-	-	-	het	1
11	9	119460425	C	T	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	c.404C>T	p.T135I	non-syn	rs141953092	-	T=3/C=8595;T=0/C=4406;T=3/C=13001	lod=18:278	TOLERATED	B	-	het	1
12	9	119460425	C	T	ENST00000411410	ENSG00000119401	119449581	119463579	ENSP00000412603	TRIM32	1	-	c.404C>T	p.T135I	non-syn	rs141953092	-	T=3/C=8595;T=0/C=4406;T=3/C=13001	lod=18:278	TOLERATED	B	-	het	1
13	9	119460425	C	T	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	c.404C>T	p.T135I	non-syn	rs141953092	-	T=3/C=8595;T=0/C=4406;T=3/C=13001	lod=18:278	TOLERATED	B	-	het	1
14	9	119460500	T	-G	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	c.480_480del	p.M160NA	non-syn	NA	-	-	lod=22:300	-	-	-	het	2
15	9	119460500	T	-G	ENST00000411410	ENSG00000119401	119449581	119463579	ENSP00000412603	TRIM32	1	-	c.480_480del	p.M160NA	non-syn	NA	-	-	lod=22:300	-	-	-	het	2
16	9	119460500	T	-G	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	c.480_480del	p.M160NA	non-syn	NA	-	-	lod=22:300	-	-	-	het	2
17	9	119460542	C	T	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	c.521C>T	p.S174F	non-syn	rs138699534	-	T=5/C=8595;T=0/C=4406;T=5/C=13001	lod=61:409	DAMAGING	P	-	het	1
18	9	119460542	C	T	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	c.521C>T	p.S174F	non-syn	rs138699534	-	T=5/C=8595;T=0/C=4406;T=5/C=13001	lod=61:409	DAMAGING	P	-	het	1
19	9	119460681	G	C	ENST00000373983	ENSG00000119401	119449581	119463579	ENSP00000363095	TRIM32	1	TRI32_HUMAN	c.660G>C	p.V220V	syn	rs3747833	-	-	lod=159:511	-	-	-	het	4
20	9	119460681	G	C	ENST00000450136	ENSG00000119401	119449581	119463579	ENSP00000408292	TRIM32	1	TRI32_HUMAN	c.660G>C	p.V220V	syn	rs3747833	-	-	lod=159:511	-	-	-	het	4

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Transcripts and variants in the surrounding TRIM32 9:119449581..119463579 region Gbrowse