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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 PRKAR1A:

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
ENSG00000108946	PRKAR1A	0	0	34	ENSG00000108946	ENST00000589309	ENSP00000467500	protein kinase, cAMP-dependent, regulatory, type I, alpha [Source:HGNC Symbol;Acc:9388]	17	66507921	66547460	1	q24.2	66508628	66511677	PRKAR1A	PRKAR1A-012	HGNC Symbol	HGNC transcript name	21	41.97	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5573	9388	PRKAR1A		27509

MSeqDR Master Exome Data Set M1: 294 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	66508243	C	A	ENST00000358598	ENSG00000108946	66507921	66547460	ENSP00000351410	PRKAR1A	1	KAP0_HUMAN	-	-	5'_UTR	rs8080306	0.7556	-	-	-	-	-	het	9
2	17	66508243	C	A	ENST00000358598	ENSG00000108946	66507921	66547460	ENSP00000351410	PRKAR1A	1	KAP0_HUMAN	-	-	5'_UTR	rs8080306	0.7556	-	-	-	-	-	hom	34
3	17	66508243	C	A	ENST00000589017	ENSG00000108946	66507921	66547460	ENSP00000465445	PRKAR1A	1	-	-	-	5'_UTR	rs8080306	0.7556	-	-	-	-	-	het	9
4	17	66508243	C	A	ENST00000589017	ENSG00000108946	66507921	66547460	ENSP00000465445	PRKAR1A	1	-	-	-	5'_UTR	rs8080306	0.7556	-	-	-	-	-	hom	34
5	17	66511627	G	A	ENST00000358598	ENSG00000108946	66507921	66547460	ENSP00000351410	PRKAR1A	1	KAP0_HUMAN	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
6	17	66511627	G	A	ENST00000358598	ENSG00000108946	66507921	66547460	ENSP00000351410	PRKAR1A	1	KAP0_HUMAN	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
7	17	66511627	G	A	ENST00000392710	ENSG00000108946	66507921	66547460	ENSP00000376474	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
8	17	66511627	G	A	ENST00000392710	ENSG00000108946	66507921	66547460	ENSP00000376474	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
9	17	66511627	G	A	ENST00000392711	ENSG00000108946	66507921	66547460	ENSP00000376475	PRKAR1A	1	KAP0_HUMAN	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
10	17	66511627	G	A	ENST00000392711	ENSG00000108946	66507921	66547460	ENSP00000376475	PRKAR1A	1	KAP0_HUMAN	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
11	17	66511627	G	A	ENST00000536854	ENSG00000108946	66507921	66547460	ENSP00000445625	PRKAR1A	1	KAP0_HUMAN	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
12	17	66511627	G	A	ENST00000536854	ENSG00000108946	66507921	66547460	ENSP00000445625	PRKAR1A	1	KAP0_HUMAN	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
13	17	66511627	G	A	ENST00000585427	ENSG00000108946	66507921	66547460	ENSP00000464715	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
14	17	66511627	G	A	ENST00000585427	ENSG00000108946	66507921	66547460	ENSP00000464715	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
15	17	66511627	G	A	ENST00000585460	ENSG00000108946	66507921	66547460	-	PRKAR1A	1	-	c.212G>A	p.R71H	non-syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
16	17	66511627	G	A	ENST00000585460	ENSG00000108946	66507921	66547460	-	PRKAR1A	1	-	c.212G>A	p.R71H	non-syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
17	17	66511627	G	A	ENST00000585608	ENSG00000108946	66507921	66547460	ENSP00000466722	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
18	17	66511627	G	A	ENST00000585608	ENSG00000108946	66507921	66547460	ENSP00000466722	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	2
19	17	66511627	G	A	ENST00000585815	ENSG00000108946	66507921	66547460	ENSP00000467867	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	het	36
20	17	66511627	G	A	ENST00000585815	ENSG00000108946	66507921	66547460	ENSP00000467867	PRKAR1A	1	-	c.87G>A	p.A29A	syn	rs3730349	0.02412	A=198/G=8402;A=22/G=4384;A=220/G=12786	lod=188:529	-	-	-	hom	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.

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Transcripts and variants in the surrounding PRKAR1A 17:66507921..66547460 region Gbrowse