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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 PPIB:

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
ENSG00000166794	PPIB	0	0	7	ENSG00000166794	ENST00000300026	ENSP00000300026	peptidylprolyl isomerase B (cyclophilin B) [Source:HGNC Symbol;Acc:9255]	15	64448011	64455404	-1	q22.31	64448011	64455404	PPIB	PPIB-001	HGNC Symbol	HGNC transcript name	3	52.92	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5479	9255	PPIB	NM_000942	27521

MSeqDR Master Exome Data Set M1: 36 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	15	64448017	A	+T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	rs202080377	-	-	-	-	-	-	het	49
2	15	64448017	A	+T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	rs202080377	-	-	-	-	-	-	hom	2
3	15	64448019	T	+AAA	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	15	64448019	T	+AA	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	123
5	15	64448019	T	+AA	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
6	15	64448019	T	+A	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	rs36034101	-	-	-	-	-	-	hom	8
7	15	64448019	T	+A	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	rs36034101	-	-	-	-	-	-	het	565
8	15	64448136	A	T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	NA	-	-	lod=18:278	-	-	-	het	1
9	15	64448201	A	T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	3'_UTR	rs2307248	0.037	T=5/A=8595;T=207/A=4199;T=212/A=12794	-	-	-	-	het	5
10	15	64448304	C	T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	c.569G>A	p.R190Q	non-syn	rs200864554	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=139:497	TOLERATED	P	-	het	4
11	15	64448910	C	T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
12	15	64449073	T	C	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	c.379A>G	p.N127D	non-syn	NA	-	-	lod=172:519	DAMAGING	D	-	het	1
13	15	64449073	T	C	ENST00000558492	ENSG00000166794	64448011	64455404	-	PPIB	-1	-	c.285A>G	p.R95R	syn	NA	-	-	lod=172:519	DAMAGING	D	-	het	1
14	15	64452322	G	A	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	c.324C>T	p.T108T	syn	rs2307247	0.01507	A=125/G=8475;A=5/G=4401;A=130/G=12876	lod=631:658	-	-	-	het	37
15	15	64452322	G	A	ENST00000558492	ENSG00000166794	64448011	64455404	-	PPIB	-1	-	c.230C>T	p.P77L	non-syn	rs2307247	0.01507	A=125/G=8475;A=5/G=4401;A=130/G=12876	lod=631:658	-	-	-	het	37
16	15	64452322	G	A	ENST00000561048	ENSG00000166794	64448011	64455404	-	PPIB	-1	-	c.359C>T	p.P120L	non-syn	rs2307247	0.01507	A=125/G=8475;A=5/G=4401;A=130/G=12876	lod=631:658	-	-	-	het	37
17	15	64452374	C	-T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	c.271_271del	p.S91NA	non-syn	NA	-	-	lod=631:658	-	-	-	het	1
18	15	64452374	C	-T	ENST00000558492	ENSG00000166794	64448011	64455404	-	PPIB	-1	-	c.177_177del	p.T59NA	non-syn	NA	-	-	lod=631:658	-	-	-	het	1
19	15	64452374	C	-T	ENST00000561048	ENSG00000166794	64448011	64455404	-	PPIB	-1	-	c.306_306del	p.T102NA	non-syn	NA	-	-	lod=631:658	-	-	-	het	1
20	15	64454228	C	T	ENST00000300026	ENSG00000166794	64448011	64455404	ENSP00000300026	PPIB	-1	PPIB_HUMAN	-	-	+12bp 5'_splice_site	rs202059751	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	-	-	-	-	het	2

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding PPIB 15:64448011..64455404 region Gbrowse