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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 POU3F4:

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
ENSG00000196767	POU3F4	1	0	28	ENSG00000196767	ENST00000373200	ENSP00000362296	POU class 3 homeobox 4 [Source:HGNC Symbol;Acc:9217]	X	82763269	82764775	1	q21.1	82763269	82764775	POU3F4	POU3F4-001	HGNC Symbol	HGNC transcript name	1	55.28	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5456	9217	POU3F4	NM_000307	27516

MSeqDR Master Exome Data Set M1: 9 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	X	82764040	A	G	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	c.708A>G	p.E236E	syn	rs5921978	0.991	-	lod=1515:752	-	-	-	hom	40
2	X	82764042	G	C	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	c.710G>C	p.G237A	non-syn	rs5921979	0.9739	-	lod=1515:752	TOLERATED	B	-	hom	11
3	X	82764217	G	C	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	c.885G>C	p.T295T	syn	NA	-	C=1/G=6727;C=0/G=3835;C=1/G=10562	lod=1235:730	-	-	-	het	1
4	X	82764217	G	C	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	c.885G>C	p.T295T	syn	NA	-	C=1/G=6727;C=0/G=3835;C=1/G=10562	lod=1235:730	-	-	-	hom	1
5	X	82764440	C	G	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	-	-	3'_UTR	rs201213510	-	-	-	-	-	-	het	3
6	X	82764523	C	T	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	X	82764559	T	C	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	X	82764582	C	T	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	X	82764642	C	-CCCTT	ENST00000373200	ENSG00000196767	82763269	82764775	ENSP00000362296	POU3F4	1	PO3F4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding POU3F4 X:82763269..82764775 region Gbrowse