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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 C12orf65:

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
ENSG00000130921	C12orf65	1	127	14	ENSG00000130921	ENST00000253233	ENSP00000253233	chromosome 12 open reading frame 65 [Source:HGNC Symbol;Acc:26784]	12	123717463	123742506	1	q24.31	123717463	123742506	C12orf65	C12orf65-001	HGNC Symbol	HGNC transcript name	8	47.41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	91574	26784	C12orf65	NM_152269	27519

MSeqDR Master Exome Data Set M1: 120 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	12	123717689	A	-GC	ENST00000253233	ENSG00000130921	123717463	123742506	ENSP00000253233	C12orf65	1	CL065_HUMAN	-	-	5'_UTR	rs146239222	-	-	lod=47:381	-	-	-	het	1
2	12	123718301	C	T	ENST00000536130	ENSG00000130921	123717463	123742506	ENSP00000443072	C12orf65	1	-	-	-	5'_UTR	rs1727332	0.7212	-	-	-	-	-	het	1
3	12	123718301	C	T	ENST00000536130	ENSG00000130921	123717463	123742506	ENSP00000443072	C12orf65	1	-	-	-	5'_UTR	rs1727332	0.7212	-	-	-	-	-	hom	1
4	12	123718301	C	T	ENST00000546132	ENSG00000130921	123717463	123742506	ENSP00000441796	C12orf65	1	-	-	-	5'_UTR	rs1727332	0.7212	-	-	-	-	-	het	1
5	12	123718301	C	T	ENST00000546132	ENSG00000130921	123717463	123742506	ENSP00000441796	C12orf65	1	-	-	-	5'_UTR	rs1727332	0.7212	-	-	-	-	-	hom	1
6	12	123738009	G	A	ENST00000429587	ENSG00000130921	123717463	123742506	ENSP00000391513	C12orf65	1	CL065_HUMAN	-	-	5'_UTR	rs144961610	-	-	-	-	-	-	hom	1
7	12	123738009	G	A	ENST00000429587	ENSG00000130921	123717463	123742506	ENSP00000391513	C12orf65	1	CL065_HUMAN	-	-	5'_UTR	rs144961610	-	-	-	-	-	-	het	6
8	12	123738078	C	T	ENST00000429587	ENSG00000130921	123717463	123742506	ENSP00000391513	C12orf65	1	CL065_HUMAN	-	-	5'_UTR	rs151216628	0.0181	-	-	-	-	-	het	2
9	12	123738078	C	T	ENST00000429587	ENSG00000130921	123717463	123742506	ENSP00000391513	C12orf65	1	CL065_HUMAN	-	-	5'_UTR	rs151216628	0.0181	-	-	-	-	-	hom	1
10	12	123738265	G	A	ENST00000253233	ENSG00000130921	123717463	123742506	ENSP00000253233	C12orf65	1	CL065_HUMAN	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	het	34
11	12	123738265	G	A	ENST00000253233	ENSG00000130921	123717463	123742506	ENSP00000253233	C12orf65	1	CL065_HUMAN	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	hom	2
12	12	123738265	G	A	ENST00000366329	ENSG00000130921	123717463	123742506	ENSP00000390647	C12orf65	1	CL065_HUMAN	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	het	34
13	12	123738265	G	A	ENST00000366329	ENSG00000130921	123717463	123742506	ENSP00000390647	C12orf65	1	CL065_HUMAN	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	hom	2
14	12	123738265	G	A	ENST00000425637	ENSG00000130921	123717463	123742506	-	C12orf65	1	-	c.167G>A	p.R56Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	het	34
15	12	123738265	G	A	ENST00000425637	ENSG00000130921	123717463	123742506	-	C12orf65	1	-	c.167G>A	p.R56Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	hom	2
16	12	123738265	G	A	ENST00000429587	ENSG00000130921	123717463	123742506	ENSP00000391513	C12orf65	1	CL065_HUMAN	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	het	34
17	12	123738265	G	A	ENST00000429587	ENSG00000130921	123717463	123742506	ENSP00000391513	C12orf65	1	CL065_HUMAN	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	hom	2
18	12	123738265	G	A	ENST00000536130	ENSG00000130921	123717463	123742506	ENSP00000443072	C12orf65	1	-	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	het	34
19	12	123738265	G	A	ENST00000536130	ENSG00000130921	123717463	123742506	ENSP00000443072	C12orf65	1	-	c.44G>A	p.R15Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	hom	2
20	12	123738265	G	A	ENST00000538888	ENSG00000130921	123717463	123742506	-	C12orf65	1	-	c.167G>A	p.R56Q	non-syn	rs78651634	0.01412	A=231/G=8369;A=19/G=4387;A=250/G=12756	-	DAMAGING	P	-	het	34

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding C12orf65 12:123717463..123742506 region Gbrowse