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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 PTF1A:

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
ENSG00000168267	PTF1A	0	0	3	ENSG00000168267	ENST00000376504	ENSP00000365687	pancreas specific transcription factor, 1a [Source:HGNC Symbol;Acc:23734]	10	23481256	23483181	1	p12.2	23481256	23483181	PTF1A	PTF1A-001	HGNC Symbol	HGNC transcript name	1	60.38	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	256297	23734	PTF1A	NM_178161	27525

MSeqDR Master Exome Data Set M1: 26 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	10	23481300	C	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	10	23481327	G	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	10	23481337	C	G	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
4	10	23481345	G	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	10	23481380	G	A	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
6	10	23481410	G	-AACT	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	10	23481421	C	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	10	23481434	T	G	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	10	23481436	C	G	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	5'_UTR	rs199869734	-	G=1/C=8595;G=18/C=4386;G=19/C=12981	-	-	-	-	het	1
10	10	23481621	C	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.162C>T	p.S54S	syn	rs117678424	0.012	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=147:503	-	-	-	het	5
11	10	23481682	C	A	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.223C>A	p.P75T	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
12	10	23481723	C	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.264C>T	p.G88G	syn	NA	-	-	-	-	-	-	het	2
13	10	23481845	C	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.386C>T	p.A129V	non-syn	NA	-	-	lod=124:484	DAMAGING	P	-	het	1
14	10	23481905	C	T	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.446C>T	p.A149V	non-syn	NA	-	-	lod=1276:733	DAMAGING	P	-	het	1
15	10	23482163	G	A	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.704G>A	p.G235E	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
16	10	23482635	T	C	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.787T>C	p.S263P	non-syn	rs7918487	0.7232	C=4181/T=4419;C=2462/T=1944;C=6643/T=6363	lod=53:393	DAMAGING	D	-	het	407
17	10	23482635	T	C	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	c.787T>C	p.S263P	non-syn	rs7918487	0.7232	C=4181/T=4419;C=2462/T=1944;C=6643/T=6363	lod=53:393	DAMAGING	D	-	hom	261
18	10	23482850	G	A	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	3'_UTR	rs10828415	0.4325	A=429/G=8171;A=333/G=4073;A=762/G=12244	-	-	-	-	hom	20
19	10	23482850	G	A	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	3'_UTR	rs10828415	0.4325	A=429/G=8171;A=333/G=4073;A=762/G=12244	-	-	-	-	het	133
20	10	23482957	T	-TATC	ENST00000376504	ENSG00000168267	23481256	23483181	ENSP00000365687	PTF1A	1	PTF1A_HUMAN	-	-	3'_UTR	NA	-	-	lod=207:539	-	-	-	het	4

** 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 PTF1A 10:23481256..23483181 region Gbrowse