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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 GJA1:

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
ENSG00000152661	GJA1	0	0	21	ENSG00000152661	ENST00000282561	ENSP00000282561	gap junction protein, alpha 1, 43kDa [Source:HGNC Symbol;Acc:4274]	6	121756838	121770873	1	q22.31	121756838	121770873	GJA1	GJA1-001	HGNC Symbol	HGNC transcript name	1	40.25	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2697	4274	GJA1	NM_000165	27515

MSeqDR Master Exome Data Set M1: 42 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	6	121767966	T	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	-12bp 3'_splice_site	rs56199702	-	A=62/T=8538;A=2/T=4404;A=64/T=12942	-	-	-	-	het	14
2	6	121767966	T	C	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	-12bp 3'_splice_site	NA	-	A=62/T=8538;A=2/T=4404;A=64/T=12942	-	-	-	-	het	1
3	6	121768143	T	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.150T>A	p.S50S	syn	NA	-	-	lod=131:490	-	-	-	het	1
4	6	121768182	T	C	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.189T>C	p.N63N	syn	rs139688042	-	C=0/T=8594;C=1/T=4405;C=1/T=12999	lod=346:594	-	-	-	het	2
5	6	121768710	G	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.717G>A	p.R239R	syn	rs57946868	0.0449	A=127/G=8473;A=327/G=4079;A=454/G=12552	lod=47:381	-	-	-	het	31
6	6	121768710	G	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.717G>A	p.R239R	syn	rs57946868	0.0449	A=127/G=8473;A=327/G=4079;A=454/G=12552	lod=47:381	-	-	-	hom	2
7	6	121768710	G	C	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.717G>C	p.R239R	syn	rs57946868	-	A=127/G=8473;A=327/G=4079;A=454/G=12552	lod=47:381	-	-	-	het	2
8	6	121768739	C	T	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.746C>T	p.A249V	non-syn	NA	-	-	-	DAMAGING	B	-	het	2
9	6	121768751	C	T	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.758C>T	p.A253V	non-syn	rs17653265	0.00933	T=138/C=8462;T=8/C=4398;T=146/C=12860	-	DAMAGING	B	Attenuated phenotype in glaucoma ?	het	26
10	6	121768818	C	T	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.825C>T	p.T275T	syn	rs2227880	-	-	lod=29:329	-	-	-	het	1
11	6	121768832	C	G	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.839C>G	p.P280R	non-syn	NA	-	-	lod=95:456	DAMAGING	D	-	het	1
12	6	121768924	G	-C	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.932_932del	p.A311NA	non-syn	NA	-	-	lod=341:592	-	-	-	het	12
13	6	121769120	G	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.1127G>A	p.R376Q	non-syn	rs104893965	-	A=4/G=8562;A=0/G=4402;A=4/G=12964	lod=203:537	DAMAGING	D	HGMD	het	2
14	6	121769121	G	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	c.1128G>A	p.R376R	syn	rs145215218	-	A=8/G=8558;A=0/G=4400;A=8/G=12958	lod=203:537	-	-	-	het	1
15	6	121769144	T	+A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	63
16	6	121769144	T	+A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	3
17	6	121769164	G	T	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	6	121769261	T	C	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	3'_UTR	rs72548742	-	-	lod=74:429	-	-	-	het	7
19	6	121769315	G	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	3'_UTR	rs72548744	0.0935	-	lod=15:259	-	-	-	het	82
20	6	121769315	G	A	ENST00000282561	ENSG00000152661	121756838	121770873	ENSP00000282561	GJA1	1	CXA1_HUMAN	-	-	3'_UTR	rs72548744	0.0935	-	lod=15:259	-	-	-	hom	4

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Transcripts and variants in the surrounding GJA1 6:121756838..121770873 region Gbrowse