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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 XPC:

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
ENSG00000154767	XPC	0	0	45	ENSG00000154767	ENST00000285021	ENSP00000285021	xeroderma pigmentosum, complementation group C [Source:HGNC Symbol;Acc:12816]	3	14186647	14220283	-1	p25.1	14186647	14220283	XPC	XPC-001	HGNC Symbol	HGNC transcript name	8	45.2	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7508	12816	XPC	NM_004628	27517

MSeqDR Master Exome Data Set M1: 198 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	14186649	T	C	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	NA	-	-	lod=48:383	-	-	-	het	2
2	3	14186757	C	G	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs1126547	0.87966	-	-	-	-	-	het	122
3	3	14186757	C	G	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs1126547	0.87966	-	-	-	-	-	hom	526
4	3	14186793	G	A	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	3	14186830	A	G	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	3	14186830	A	T	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs2470352	-	-	-	-	-	-	het	2
7	3	14187173	T	G	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	3	14187249	A	G	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs3731178	0.0268	-	-	-	-	-	het	3
9	3	14187249	A	G	ENST00000476581	ENSG00000154767	14186647	14220283	ENSP00000424548	XPC	-1	-	-	-	3'_UTR	rs3731178	0.0268	-	-	-	-	-	het	3
10	3	14187255	A	G	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs150535296	0.0096	-	-	-	-	-	het	1
11	3	14187255	A	G	ENST00000476581	ENSG00000154767	14186647	14220283	ENSP00000424548	XPC	-1	-	-	-	3'_UTR	rs150535296	0.0096	-	-	-	-	-	het	1
12	3	14187294	C	-CT	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	3	14187294	C	-CT	ENST00000476581	ENSG00000154767	14186647	14220283	ENSP00000424548	XPC	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	3	14187345	G	C	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs2229090	0.3613	-	-	-	-	-	hom	41
15	3	14187345	G	C	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	-	-	3'_UTR	rs2229090	0.3613	-	-	-	-	-	het	264
16	3	14187345	G	C	ENST00000476581	ENSG00000154767	14186647	14220283	ENSP00000424548	XPC	-1	-	-	-	3'_UTR	rs2229090	0.3613	-	-	-	-	-	hom	41
17	3	14187345	G	C	ENST00000476581	ENSG00000154767	14186647	14220283	ENSP00000424548	XPC	-1	-	-	-	3'_UTR	rs2229090	0.3613	-	-	-	-	-	het	264
18	3	14187449	G	T	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	c.2815C>A	p.Q939K	non-syn	rs2228001	0.6343	T=4949/G=3279;T=2775/G=1027;T=7724/G=4306	lod=79:436	TOLERATED	-	HGMD	het	488
19	3	14187449	G	T	ENST00000285021	ENSG00000154767	14186647	14220283	ENSP00000285021	XPC	-1	XPC_HUMAN	c.2815C>A	p.Q939K	non-syn	rs2228001	0.6343	T=4949/G=3279;T=2775/G=1027;T=7724/G=4306	lod=79:436	TOLERATED	-	HGMD	hom	310
20	3	14187449	G	T	ENST00000449060	ENSG00000154767	14186647	14220283	ENSP00000404002	XPC	-1	XPC_HUMAN	c.2704C>A	p.Q902K	non-syn	rs2228001	0.6343	T=4949/G=3279;T=2775/G=1027;T=7724/G=4306	lod=79:436	TOLERATED	-	HGMD	het	488

** 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 XPC 3:14186647..14220283 region Gbrowse