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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 ENSG00000173175:

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
ENSG00000173175	ADCY5	0	0	7	ENSG00000173175	ENST00000462833	ENSP00000419361	adenylate cyclase 5 [Source:HGNC Symbol;Acc:236]	3	123001143	123168605	-1	q21.1	123001143	123168605	ADCY5	ADCY5-001	HGNC Symbol	HGNC transcript name	10	51.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	111	236	ADCY5	NM_183357	27517

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	3	123001214	T	+ATC	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	NA	-	-	lod=346:594	-	-	-	het	1
2	3	123001267	C	T	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	NA	-	-	lod=221:546	-	-	-	het	1
3	3	123001316	G	A	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	3	123001346	C	T	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs80312230	0.0233	-	-	-	-	-	het	1
5	3	123001377	G	A	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs113236387	-	-	-	-	-	-	het	7
6	3	123001379	A	G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs13322080	0.0638	-	-	-	-	-	het	12
7	3	123001379	A	G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs13322080	0.0638	-	-	-	-	-	hom	1
8	3	123001463	A	G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs76135430	0.0164	-	-	-	-	-	het	2
9	3	123001494	G	A	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs6784930	0.20352	-	-	-	-	-	het	194
10	3	123001494	G	A	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs6784930	0.20352	-	-	-	-	-	hom	35
11	3	123001496	C	-G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	3	123001601	T	G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	3	123001602	C	T	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs139590302	0.00385	-	-	-	-	-	het	5
14	3	123001670	G	C	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	3	123001731	T	+GAA	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs149655052	-	-	-	-	-	-	het	5
16	3	123002236	T	C	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs7644737	0.1231	-	-	-	-	-	het	17
17	3	123002236	T	C	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs7644737	0.1231	-	-	-	-	-	hom	1
18	3	123002327	A	G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs9858285	0.0763	-	-	-	-	-	hom	1
19	3	123002327	A	G	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs9858285	0.0763	-	-	-	-	-	het	12
20	3	123002337	G	C	ENST00000462833	ENSG00000173175	123001143	123168605	ENSP00000419361	ADCY5	-1	ADCY5_HUMAN	-	-	3'_UTR	rs9820928	0.0694	-	-	-	-	-	het	12

** 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 ADCY5 3:123001143..123168605 region Gbrowse