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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 PPARG:

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
ENSG00000132170	PPARG	1	17	16	ENSG00000132170	ENST00000397010	ENSP00000380205	peroxisome proliferator-activated receptor gamma [Source:HGNC Symbol;Acc:9236]	3	12328867	12475855	1	p25.2	12328867	12475843	PPARG	PPARG-003	HGNC Symbol	HGNC transcript name	15	38.71	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5468	9236	PPARG		27517

MSeqDR Master Exome Data Set M1: 208 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	12393070	C	T	ENST00000287820	ENSG00000132170	12328867	12475855	ENSP00000287820	PPARG	1	PPARG_HUMAN	-	-	5'_UTR	rs200479885	-	-	-	-	-	-	het	1
2	3	12393070	C	T	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	-	-	5'_UTR	rs200479885	-	-	-	-	-	-	het	1
3	3	12393070	C	T	ENST00000477039	ENSG00000132170	12328867	12475855	-	PPARG	1	-	c.100C>T	p.Q34*	non-syn	rs200479885	-	-	-	-	-	-	het	1
4	3	12393075	C	T	ENST00000287820	ENSG00000132170	12328867	12475855	ENSP00000287820	PPARG	1	PPARG_HUMAN	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
5	3	12393075	C	T	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
6	3	12393075	C	T	ENST00000477039	ENSG00000132170	12328867	12475855	-	PPARG	1	-	c.105C>T	p.T35T	syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
7	3	12393125	C	G	ENST00000287820	ENSG00000132170	12328867	12475855	ENSP00000287820	PPARG	1	PPARG_HUMAN	c.34C>G	p.P12A	non-syn	rs1801282	0.1031	G=1063/C=7537;G=115/C=4291;G=1178/C=11828	lod=22:300	DAMAGING	D	Obesity, association with	het	176
8	3	12393125	C	G	ENST00000287820	ENSG00000132170	12328867	12475855	ENSP00000287820	PPARG	1	PPARG_HUMAN	c.34C>G	p.P12A	non-syn	rs1801282	0.1031	G=1063/C=7537;G=115/C=4291;G=1178/C=11828	lod=22:300	DAMAGING	D	Obesity, association with	hom	8
9	3	12393125	C	G	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	c.34C>G	p.P12A	non-syn	rs1801282	0.1031	G=1063/C=7537;G=115/C=4291;G=1178/C=11828	lod=22:300	DAMAGING	D	Obesity, association with	het	176
10	3	12393125	C	G	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	c.34C>G	p.P12A	non-syn	rs1801282	0.1031	G=1063/C=7537;G=115/C=4291;G=1178/C=11828	lod=22:300	DAMAGING	D	Obesity, association with	hom	8
11	3	12393125	C	G	ENST00000477039	ENSG00000132170	12328867	12475855	-	PPARG	1	-	c.155C>G	p.P52R	non-syn	rs1801282	0.1031	G=1063/C=7537;G=115/C=4291;G=1178/C=11828	lod=22:300	DAMAGING	D	Obesity, association with	het	176
12	3	12393125	C	G	ENST00000477039	ENSG00000132170	12328867	12475855	-	PPARG	1	-	c.155C>G	p.P52R	non-syn	rs1801282	0.1031	G=1063/C=7537;G=115/C=4291;G=1178/C=11828	lod=22:300	DAMAGING	D	Obesity, association with	hom	8
13	3	12413339	T	G	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	-	-	-11bp 3'_splice_site	rs2120825	0.08707	-	-	-	-	-	hom	8
14	3	12413339	T	G	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	-	-	-11bp 3'_splice_site	rs2120825	0.08707	-	-	-	-	-	het	122
15	3	12413339	T	G	ENST00000397026	ENSG00000132170	12328867	12475855	ENSP00000380221	PPARG	1	-	-	-	-11bp 3'_splice_site	rs2120825	0.08707	-	-	-	-	-	hom	8
16	3	12413339	T	G	ENST00000397026	ENSG00000132170	12328867	12475855	ENSP00000380221	PPARG	1	-	-	-	-11bp 3'_splice_site	rs2120825	0.08707	-	-	-	-	-	het	122
17	3	12413481	G	A	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	-	-	3'_UTR	rs146288451	0.0098	-	-	-	-	-	het	1
18	3	12413481	G	A	ENST00000397026	ENSG00000132170	12328867	12475855	ENSP00000380221	PPARG	1	-	-	-	5'_UTR	rs146288451	0.0098	-	-	-	-	-	het	1
19	3	12413551	T	A	ENST00000397023	ENSG00000132170	12328867	12475855	ENSP00000380218	PPARG	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	3	12413551	T	A	ENST00000397026	ENSG00000132170	12328867	12475855	ENSP00000380221	PPARG	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	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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Transcripts and variants in the surrounding PPARG 3:12328867..12475855 region Gbrowse