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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 ATM:

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
ENSG00000149311	ATM	1	0	1571	ENSG00000149311	ENST00000531525	ENSP00000434327	ataxia telangiectasia mutated [Source:HGNC Symbol;Acc:795]	11	108093211	108239829	1	q22.3	108158327	108166723	ATM	ATM-012	HGNC Symbol	HGNC transcript name	25	37.52	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	472	795	ATM		27504

MSeqDR Master Exome Data Set M1: 695 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	11	108093300	G	C	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	rs199579930	-	C=1/G=8469;C=0/G=4256;C=1/G=12725	-	-	-	-	het	3
2	11	108093339	G	A	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	NA	-	-	lod=124:484	-	-	-	hom	1
3	11	108093339	G	A	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	NA	-	-	lod=124:484	-	-	-	het	1
4	11	108093457	C	A	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	11	108093579	C	G	ENST00000278616	ENSG00000149311	108093211	108239829	ENSP00000278616	ATM	1	ATM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
6	11	108093579	C	G	ENST00000278616	ENSG00000149311	108093211	108239829	ENSP00000278616	ATM	1	ATM_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	2
7	11	108093579	C	G	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
8	11	108093579	C	G	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	2
9	11	108093833	G	A	ENST00000278616	ENSG00000149311	108093211	108239829	ENSP00000278616	ATM	1	ATM_HUMAN	-	-	5'_UTR	rs189037	0.5874	-	-	-	-	-	het	1
10	11	108093833	G	A	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	-	-	5'_UTR	rs189037	0.5874	-	-	-	-	-	het	1
11	11	108093833	G	A	ENST00000527891	ENSG00000149311	108093211	108239829	ENSP00000433955	ATM	1	-	-	-	5'_UTR	rs189037	0.5874	-	-	-	-	-	het	1
12	11	108093833	G	A	ENST00000530958	ENSG00000149311	108093211	108239829	-	ATM	1	-	c.4G>A	p.A2T	non-syn	rs189037	0.5874	-	-	-	-	-	het	1
13	11	108093833	G	A	ENST00000532931	ENSG00000149311	108093211	108239829	ENSP00000432318	ATM	1	-	-	-	5'_UTR	rs189037	0.5874	-	-	-	-	-	het	1
14	11	108098243	A	G	ENST00000530958	ENSG00000149311	108093211	108239829	-	ATM	1	-	c.4414A>G	p.T1472A	non-syn	rs3218693	0.0919	-	-	-	-	-	het	8
15	11	108098243	A	G	ENST00000530958	ENSG00000149311	108093211	108239829	-	ATM	1	-	c.4414A>G	p.T1472A	non-syn	rs3218693	0.0919	-	-	-	-	-	hom	3
16	11	108098265	C	-TCTA	ENST00000530958	ENSG00000149311	108093211	108239829	-	ATM	1	-	c.4437_4440del	p.S1479NA	non-syn	NA	-	-	-	-	-	-	het	1
17	11	108098419	G	A	ENST00000278616	ENSG00000149311	108093211	108239829	ENSP00000278616	ATM	1	ATM_HUMAN	c.68G>A	p.R23Q	non-syn	NA	-	-	lod=294:577	DAMAGING	D	-	het	1
18	11	108098419	G	A	ENST00000452508	ENSG00000149311	108093211	108239829	ENSP00000388058	ATM	1	ATM_HUMAN	c.68G>A	p.R23Q	non-syn	NA	-	-	lod=294:577	DAMAGING	D	-	het	1
19	11	108098419	G	A	ENST00000526567	ENSG00000149311	108093211	108239829	-	ATM	1	-	c.256G>A	p.E86K	non-syn	NA	-	-	lod=294:577	DAMAGING	D	-	het	1
20	11	108098419	G	A	ENST00000527805	ENSG00000149311	108093211	108239829	ENSP00000435747	ATM	1	-	c.68G>A	p.R23Q	non-syn	NA	-	-	lod=294:577	DAMAGING	D	-	het	1

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Transcripts and variants in the surrounding ATM 11:108093211..108239829 region Gbrowse