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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 PEX12:

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
ENSG00000108733	PEX12	0	0	16	ENSG00000108733	ENST00000225873	ENSP00000225873	peroxisomal biogenesis factor 12 [Source:HGNC Symbol;Acc:8854]	17	33901814	33905882	-1	q12	33901814	33905648	PEX12	PEX12-001	HGNC Symbol	HGNC transcript name	3	42.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5193	8854	PEX12	NM_000286	27509

MSeqDR Master Exome Data Set M1: 55 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	17	33901850	T	+A	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	17	33901878	C	T	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	2
3	17	33901917	T	-TAA	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	17	33901917	T	-TAAG	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs35050283	-	-	-	-	-	-	hom	133
5	17	33901917	T	-TAAG	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs35050283	-	-	-	-	-	-	het	343
6	17	33901965	C	G	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs10068	0.38713	-	lod=53:393	-	-	-	het	376
7	17	33901965	C	G	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs10068	0.38713	-	lod=53:393	-	-	-	hom	123
8	17	33902017	T	+A	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
9	17	33902020	A	T	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs185900922	0.0099	-	-	-	-	-	het	2
10	17	33902165	A	G	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs111424374	0.0437	-	-	-	-	-	het	2
11	17	33902230	T	-AA	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs147669127	-	-	-	-	-	-	hom	1
12	17	33902230	T	-AA	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs147669127	-	-	-	-	-	-	het	40
13	17	33902232	A	T	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	17	33902248	T	-AAC	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs147182821	-	-	-	-	-	-	het	18
15	17	33902284	T	C	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs1046321	0.3829	-	-	-	-	-	hom	99
16	17	33902292	A	C	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs192370696	-	-	-	-	-	-	het	2
17	17	33902368	A	G	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	17	33902456	G	A	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	lod=20:289	-	-	-	het	2
19	17	33902504	A	G	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	rs113891712	0.0451	-	-	-	-	-	het	3
20	17	33902568	G	C	ENST00000225873	ENSG00000108733	33901814	33905882	ENSP00000225873	PEX12	-1	PEX12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding PEX12 17:33901814..33905882 region Gbrowse