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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 PABPN1:

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
ENSG00000100836	PABPN1	0	0	0	ENSG00000100836	ENST00000216727	ENSP00000216727	poly(A) binding protein, nuclear 1 [Source:HGNC Symbol;Acc:8565]	14	23790498	23795394	1	q11.2	23790498	23795394	PABPN1	PABPN1-001	HGNC Symbol	HGNC transcript name	8	50.48	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8106	8565	PABPN1	NM_004643	27520

MSeqDR Master Exome Data Set M1: 96 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	14	23790519	A	G	ENST00000216727	ENSG00000100836	23790498	23795394	ENSP00000216727	PABPN1	1	PABP2_HUMAN	-	-	5'_UTR	rs80191011	0.0853	-	-	-	-	-	het	5
2	14	23790567	C	T	ENST00000216727	ENSG00000100836	23790498	23795394	ENSP00000216727	PABPN1	1	PABP2_HUMAN	-	-	5'_UTR	rs199888172	-	-	-	-	-	-	het	5
3	14	23790587	A	C	ENST00000216727	ENSG00000100836	23790498	23795394	ENSP00000216727	PABPN1	1	PABP2_HUMAN	-	-	5'_UTR	rs149931392	0.0175	-	-	-	-	-	het	6
4	14	23790736	G	C	ENST00000216727	ENSG00000100836	23790498	23795394	ENSP00000216727	PABPN1	1	PABP2_HUMAN	c.58G>C	p.G20R	non-syn	NA	-	-	lod=1293:735	DAMAGING	NA	-	het	1
5	14	23790736	G	C	ENST00000397276	ENSG00000100836	23790498	23795394	ENSP00000380446	PABPN1	1	PABP2_HUMAN	c.58G>C	p.G20R	non-syn	NA	-	-	lod=1293:735	DAMAGING	NA	-	het	1
6	14	23790822	C	T	ENST00000216727	ENSG00000100836	23790498	23795394	ENSP00000216727	PABPN1	1	PABP2_HUMAN	c.144C>T	p.N48N	syn	NA	-	-	lod=1293:735	-	-	-	het	2
7	14	23790822	C	T	ENST00000397276	ENSG00000100836	23790498	23795394	ENSP00000380446	PABPN1	1	PABP2_HUMAN	c.144C>T	p.N48N	syn	NA	-	-	lod=1293:735	-	-	-	het	2
8	14	23790822	C	T	ENST00000556821	ENSG00000100836	23790498	23795394	ENSP00000451970	PABPN1	1	-	-	-	5'_UTR	NA	-	-	lod=1293:735	-	-	-	het	2
9	14	23790864	G	A	ENST00000216727	ENSG00000100836	23790498	23795394	ENSP00000216727	PABPN1	1	PABP2_HUMAN	c.186G>A	p.L62L	syn	rs188436762	0.0152	A=49/G=5451;A=7/G=2789;A=56/G=8240	lod=1293:735	-	-	-	het	14
10	14	23790864	G	A	ENST00000397276	ENSG00000100836	23790498	23795394	ENSP00000380446	PABPN1	1	PABP2_HUMAN	c.186G>A	p.L62L	syn	rs188436762	0.0152	A=49/G=5451;A=7/G=2789;A=56/G=8240	lod=1293:735	-	-	-	het	14
11	14	23790864	G	A	ENST00000556821	ENSG00000100836	23790498	23795394	ENSP00000451970	PABPN1	1	-	-	-	5'_UTR	rs188436762	0.0152	A=49/G=5451;A=7/G=2789;A=56/G=8240	lod=1293:735	-	-	-	het	14
12	14	23791115	C	+G	ENST00000556809	ENSG00000100836	23790498	23795394	-	PABPN1	1	-	c.93_94insG	p.G32NA	non-syn	NA	-	-	lod=108:470	-	-	-	het	1
13	14	23791115	C	+G	ENST00000556821	ENSG00000100836	23790498	23795394	ENSP00000451970	PABPN1	1	-	-	-	5'_UTR	NA	-	-	lod=108:470	-	-	-	het	1
14	14	23791186	A	G	ENST00000556809	ENSG00000100836	23790498	23795394	-	PABPN1	1	-	c.164A>G	p.Y55C	non-syn	NA	-	-	-	-	-	-	het	2
15	14	23791186	A	G	ENST00000556821	ENSG00000100836	23790498	23795394	ENSP00000451970	PABPN1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
16	14	23791222	T	G	ENST00000556809	ENSG00000100836	23790498	23795394	-	PABPN1	1	-	c.200T>G	p.V67G	non-syn	rs10438012	0.9427	-	-	-	-	-	het	39
17	14	23791222	T	G	ENST00000556809	ENSG00000100836	23790498	23795394	-	PABPN1	1	-	c.200T>G	p.V67G	non-syn	rs10438012	0.9427	-	-	-	-	-	hom	211
18	14	23791222	T	G	ENST00000556821	ENSG00000100836	23790498	23795394	ENSP00000451970	PABPN1	1	-	-	-	5'_UTR	rs10438012	0.9427	-	-	-	-	-	het	39
19	14	23791222	T	G	ENST00000556821	ENSG00000100836	23790498	23795394	ENSP00000451970	PABPN1	1	-	-	-	5'_UTR	rs10438012	0.9427	-	-	-	-	-	hom	211
20	14	23791237	C	A	ENST00000556809	ENSG00000100836	23790498	23795394	-	PABPN1	1	-	c.215C>A	p.S72Y	non-syn	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding PABPN1 14:23790498..23795394 region Gbrowse