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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 PEX7:

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
ENSG00000112357	PEX7	0	0	22	ENSG00000112357	ENST00000367756	ENSP00000356730	peroxisomal biogenesis factor 7 [Source:HGNC Symbol;Acc:8860]	6	137143717	137235075	1	q23.3	137143717	137151398	PEX7	PEX7-002	HGNC Symbol	HGNC transcript name	3	38.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5191	8860	PEX7		27515

MSeqDR Master Exome Data Set M1: 76 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	6	137143727	T	C	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	-	-	5'_UTR	rs1321472	0.0135	-	-	-	-	-	het	2
2	6	137143727	T	C	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	-	-	5'_UTR	rs1321472	0.0135	-	-	-	-	-	het	2
3	6	137143727	T	C	ENST00000541292	ENSG00000112357	137143717	137235075	ENSP00000441004	PEX7	1	-	-	-	5'_UTR	rs1321472	0.0135	-	-	-	-	-	het	2
4	6	137143739	A	T	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	-	-	5'_UTR	rs190537612	0.0165	-	-	-	-	-	het	1
5	6	137143739	A	T	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	-	-	5'_UTR	rs190537612	0.0165	-	-	-	-	-	het	1
6	6	137143739	A	T	ENST00000541292	ENSG00000112357	137143717	137235075	ENSP00000441004	PEX7	1	-	-	-	5'_UTR	rs190537612	0.0165	-	-	-	-	-	het	1
7	6	137143748	C	T	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	-	-	5'_UTR	rs73777751	0.2335	-	-	-	-	-	het	60
8	6	137143748	C	T	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	-	-	5'_UTR	rs73777751	0.2335	-	-	-	-	-	hom	7
9	6	137143748	C	T	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	-	-	5'_UTR	rs73777751	0.2335	-	-	-	-	-	het	60
10	6	137143748	C	T	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	-	-	5'_UTR	rs73777751	0.2335	-	-	-	-	-	hom	7
11	6	137143748	C	T	ENST00000541292	ENSG00000112357	137143717	137235075	ENSP00000441004	PEX7	1	-	-	-	5'_UTR	rs73777751	0.2335	-	-	-	-	-	het	60
12	6	137143748	C	T	ENST00000541292	ENSG00000112357	137143717	137235075	ENSP00000441004	PEX7	1	-	-	-	5'_UTR	rs73777751	0.2335	-	-	-	-	-	hom	7
13	6	137143773	G	A	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	-	-	5'_UTR	rs115866467	0.0568	A=2/G=3608;A=108/G=1676;A=110/G=5284	-	-	-	-	het	1
14	6	137143773	G	A	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	-	-	5'_UTR	rs115866467	0.0568	A=2/G=3608;A=108/G=1676;A=110/G=5284	-	-	-	-	het	1
15	6	137143773	G	A	ENST00000541292	ENSG00000112357	137143717	137235075	ENSP00000441004	PEX7	1	-	-	-	5'_UTR	rs115866467	0.0568	A=2/G=3608;A=108/G=1676;A=110/G=5284	-	-	-	-	het	1
16	6	137143827	G	A	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	c.24G>A	p.A8A	syn	NA	-	-	lod=86:445	-	-	-	het	1
17	6	137143827	G	A	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	c.24G>A	p.A8A	syn	NA	-	-	lod=86:445	-	-	-	het	1
18	6	137143827	G	A	ENST00000541292	ENSG00000112357	137143717	137235075	ENSP00000441004	PEX7	1	-	c.24G>A	p.A8A	syn	NA	-	-	lod=86:445	-	-	-	het	1
19	6	137143944	G	A	ENST00000318471	ENSG00000112357	137143717	137235075	ENSP00000315680	PEX7	1	PEX7_HUMAN	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
20	6	137143944	G	A	ENST00000367756	ENSG00000112357	137143717	137235075	ENSP00000356730	PEX7	1	-	-	-	+11bp 5'_splice_site	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding PEX7 6:137143717..137235075 region Gbrowse