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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 APC:

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
ENSG00000134982	APC	0	0	2130	ENSG00000134982	ENST00000509732	ENSP00000426541	adenomatous polyposis coli [Source:HGNC Symbol;Acc:583]	5	112043195	112181936	1	q22.2	112043195	112103019	APC	APC-008	HGNC Symbol	HGNC transcript name	13	37.63	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	324	583	APC		27527

MSeqDR Master Exome Data Set M1: 651 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	5	112043234	C	T	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	rs115658307	0.0127	-	-	-	-	-	het	2
2	5	112043234	C	T	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.17C>T	p.A6V	non-syn	rs115658307	0.0127	-	-	-	-	-	het	2
3	5	112043234	C	T	ENST00000507379	ENSG00000134982	112043195	112181936	ENSP00000423224	APC	1	-	-	-	5'_UTR	rs115658307	0.0127	-	-	-	-	-	het	2
4	5	112043234	C	T	ENST00000509732	ENSG00000134982	112043195	112181936	ENSP00000426541	APC	1	-	-	-	5'_UTR	rs115658307	0.0127	-	-	-	-	-	het	2
5	5	112043263	C	T	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	rs138386816	0.0137	-	lod=81:439	-	-	-	het	10
6	5	112043263	C	T	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.46C>T	p.R16W	non-syn	rs138386816	0.0137	-	lod=81:439	-	-	-	het	10
7	5	112043263	C	T	ENST00000507379	ENSG00000134982	112043195	112181936	ENSP00000423224	APC	1	-	-	-	5'_UTR	rs138386816	0.0137	-	lod=81:439	-	-	-	het	10
8	5	112043263	C	T	ENST00000509732	ENSG00000134982	112043195	112181936	ENSP00000426541	APC	1	-	-	-	5'_UTR	rs138386816	0.0137	-	lod=81:439	-	-	-	het	10
9	5	112043265	G	A	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	NA	-	-	lod=81:439	-	-	-	het	1
10	5	112043265	G	A	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.48G>A	p.R16R	syn	NA	-	-	lod=81:439	-	-	-	het	1
11	5	112043265	G	A	ENST00000507379	ENSG00000134982	112043195	112181936	ENSP00000423224	APC	1	-	-	-	5'_UTR	NA	-	-	lod=81:439	-	-	-	het	1
12	5	112043265	G	A	ENST00000509732	ENSG00000134982	112043195	112181936	ENSP00000426541	APC	1	-	-	-	5'_UTR	NA	-	-	lod=81:439	-	-	-	het	1
13	5	112043282	C	+G	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	17
14	5	112043282	C	+G	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	2
15	5	112043282	C	G	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	rs79896135	0.1153	-	-	-	-	-	het	158
16	5	112043282	C	G	ENST00000457016	ENSG00000134982	112043195	112181936	ENSP00000413133	APC	1	APC_HUMAN	-	-	5'_UTR	rs79896135	0.1153	-	-	-	-	-	hom	21
17	5	112043282	C	+G	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.65_66insG	p.S22NA	non-syn	NA	-	-	-	-	-	-	het	17
18	5	112043282	C	+G	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.65_66insG	p.S22NA	non-syn	NA	-	-	-	-	-	-	hom	2
19	5	112043282	C	G	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.65C>G	p.S22W	non-syn	rs79896135	0.1153	-	-	-	-	-	het	158
20	5	112043282	C	G	ENST00000505350	ENSG00000134982	112043195	112181936	-	APC	1	-	c.65C>G	p.S22W	non-syn	rs79896135	0.1153	-	-	-	-	-	hom	21

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Transcripts and variants in the surrounding APC 5:112043195..112181936 region Gbrowse