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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 ENSG00000107815:

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
ENSG00000107815	C10orf2	1	145	50	ENSG00000107815	ENST00000476766		chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]	10	102747124	102754158	1	q24.31	102747124	102753120	C10orf2	C10orf2-003	HGNC Symbol	HGNC transcript name	5	52.35	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	56652	1160	C10orf2		27525

MSeqDR Master Exome Data Set M1: 96 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	10	102747318	A	G	ENST00000473656	ENSG00000107815	102747124	102754158	-	C10orf2	1	-	c.12A>G	p.R4R	syn	rs187213541	0.0065	-	-	-	-	-	het	8
2	10	102747318	A	G	ENST00000476766	ENSG00000107815	102747124	102754158	-	C10orf2	1	-	-	-	+4bp 5'_splice_site	rs187213541	0.0065	-	-	-	-	-	het	8
3	10	102747363	G	T	ENST00000473656	ENSG00000107815	102747124	102754158	-	C10orf2	1	-	c.57G>T	p.E19D	non-syn	rs3740484	0.476	-	-	-	-	-	hom	44
4	10	102747363	G	T	ENST00000473656	ENSG00000107815	102747124	102754158	-	C10orf2	1	-	c.57G>T	p.E19D	non-syn	rs3740484	0.476	-	-	-	-	-	het	139
5	10	102747913	C	T	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	10	102747913	C	T	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
7	10	102747961	G	A	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	10	102747961	G	A	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	10	102748036	T	G	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	c.69T>G	p.G23G	syn	NA	-	-	-	-	-	-	het	1
10	10	102748036	T	G	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	c.69T>G	p.G23G	syn	NA	-	-	-	-	-	-	het	1
11	10	102748082	C	T	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	c.115C>T	p.R39C	non-syn	rs145595491	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	P	-	het	3
12	10	102748082	C	T	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	c.115C>T	p.R39C	non-syn	rs145595491	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	P	-	het	3
13	10	102748235	C	G	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	c.268C>G	p.L90V	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
14	10	102748235	C	G	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	c.268C>G	p.L90V	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
15	10	102748237	C	G	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	c.270C>G	p.L90L	syn	NA	-	-	lod=16:265	-	-	-	het	1
16	10	102748237	C	G	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	c.270C>G	p.L90L	syn	NA	-	-	lod=16:265	-	-	-	het	1
17	10	102748320	C	A	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	c.353C>A	p.A118E	non-syn	NA	-	-	lod=487:631	DAMAGING	P	-	het	3
18	10	102748320	C	A	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	c.353C>A	p.A118E	non-syn	NA	-	-	lod=487:631	DAMAGING	P	-	het	3
19	10	102748598	C	T	ENST00000311916	ENSG00000107815	102747124	102754158	ENSP00000309595	C10orf2	1	PEO1_HUMAN	c.631C>T	p.P211S	non-syn	NA	-	-	lod=164:514	TOLERATED	D	-	het	2
20	10	102748598	C	T	ENST00000370228	ENSG00000107815	102747124	102754158	ENSP00000359248	C10orf2	1	PEO1_HUMAN	c.631C>T	p.P211S	non-syn	NA	-	-	lod=164:514	TOLERATED	D	-	het	2

** 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 C10orf2 10:102747124..102754158 region Gbrowse