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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 XPA:

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
ENSG00000136936	XPA	0	0	13	ENSG00000136936	ENST00000462523	ENSP00000433006	xeroderma pigmentosum, complementation group A [Source:HGNC Symbol;Acc:12814]	9	100437191	100459639	-1	q22.33	100437191	100459575	XPA	XPA-003	HGNC Symbol	HGNC transcript name	4	38.79	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	7507	12814	XPA		27518

MSeqDR Master Exome Data Set M1: 50 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	100437198	C	T	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	rs188107493	0.0042	-	-	-	-	-	het	1
2	9	100437198	C	T	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	rs188107493	0.0042	-	-	-	-	-	het	1
3	9	100437443	A	G	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	rs3176753	0.1032	-	-	-	-	-	het	7
4	9	100437443	A	G	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	rs3176753	0.1032	-	-	-	-	-	het	7
5	9	100437443	A	G	ENST00000485042	ENSG00000136936	100437191	100459639	-	XPA	-1	-	c.612T>C	p.G204G	syn	rs3176753	0.1032	-	-	-	-	-	het	7
6	9	100437485	C	-TG	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
7	9	100437485	C	-TG	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
8	9	100437485	C	-TG	ENST00000485042	ENSG00000136936	100437191	100459639	-	XPA	-1	-	c.568_569del	p.Q190NA	non-syn	NA	-	-	-	-	-	-	het	5
9	9	100437487	G	T	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	rs3176752	0.1005	-	-	-	-	-	het	9
10	9	100437487	G	T	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	rs3176752	0.1005	-	-	-	-	-	het	9
11	9	100437487	G	T	ENST00000485042	ENSG00000136936	100437191	100459639	-	XPA	-1	-	c.568C>A	p.Q190K	non-syn	rs3176752	0.1005	-	-	-	-	-	het	9
12	9	100437500	A	T	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	9	100437500	A	T	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	9	100437500	A	T	ENST00000485042	ENSG00000136936	100437191	100459639	-	XPA	-1	-	c.555T>A	p.I185I	syn	NA	-	-	-	-	-	-	het	1
15	9	100437518	G	C	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	rs3176751	0.2957	-	-	-	-	-	het	26
16	9	100437518	G	C	ENST00000375128	ENSG00000136936	100437191	100459639	ENSP00000364270	XPA	-1	XPA_HUMAN	-	-	3'_UTR	rs3176751	0.2957	-	-	-	-	-	hom	1
17	9	100437518	G	C	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	rs3176751	0.2957	-	-	-	-	-	het	26
18	9	100437518	G	C	ENST00000462523	ENSG00000136936	100437191	100459639	ENSP00000433006	XPA	-1	-	-	-	3'_UTR	rs3176751	0.2957	-	-	-	-	-	hom	1
19	9	100437518	G	C	ENST00000485042	ENSG00000136936	100437191	100459639	-	XPA	-1	-	c.537C>G	p.H179Q	non-syn	rs3176751	0.2957	-	-	-	-	-	het	26
20	9	100437518	G	C	ENST00000485042	ENSG00000136936	100437191	100459639	-	XPA	-1	-	c.537C>G	p.H179Q	non-syn	rs3176751	0.2957	-	-	-	-	-	hom	1

** 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 XPA 9:100437191..100459639 region Gbrowse