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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 PRPF4:

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
ENSG00000136875	PRPF4	0	0	2	ENSG00000136875	ENST00000374199	ENSP00000363315	pre-mRNA processing factor 4 [Source:HGNC Symbol;Acc:17349]	9	116037623	116055185	1	q32	116037623	116055185	PRPF4	PRPF4-001	HGNC Symbol	HGNC transcript name	3	42.73	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	9128	17349	PRPF4		27518

MSeqDR Master Exome Data Set M1: 80 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	9	116037692	G	A	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs41276777	0.0152	-	lod=16:265	-	-	-	het	27
2	9	116037697	T	C	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs12343330	0.0968	-	-	-	-	-	het	87
3	9	116037697	T	C	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs12343330	0.0968	-	-	-	-	-	hom	4
4	9	116037707	C	A	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs41276779	0.0124	-	-	-	-	-	het	11
5	9	116037707	C	G	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
6	9	116037707	C	T	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	9	116037708	C	G	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
8	9	116037813	G	A	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	9	116037885	C	T	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	9	116037894	C	T	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs3810919	0.1688	-	-	-	-	-	het	242
11	9	116037894	C	T	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs3810919	0.1688	-	-	-	-	-	hom	31
12	9	116037952	C	T	ENST00000374198	ENSG00000136875	116037623	116055185	ENSP00000363313	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	T=5/C=3175;T=0/C=1384;T=5/C=4559	lod=49:385	-	-	-	het	4
13	9	116037952	C	T	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	T=5/C=3175;T=0/C=1384;T=5/C=4559	lod=49:385	-	-	-	het	4
14	9	116037969	G	C	ENST00000374198	ENSG00000136875	116037623	116055185	ENSP00000363313	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs16931980	0.0269	C=1/G=3181;C=42/G=1340;C=43/G=4521	-	-	-	-	het	3
15	9	116037969	G	C	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	rs16931980	0.0269	C=1/G=3181;C=42/G=1340;C=43/G=4521	-	-	-	-	het	3
16	9	116037983	T	C	ENST00000374198	ENSG00000136875	116037623	116055185	ENSP00000363313	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	9	116037983	T	C	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
18	9	116039019	T	C	ENST00000374198	ENSG00000136875	116037623	116055185	ENSP00000363313	PRPF4	1	PRP4_HUMAN	-	-	+14bp 5'_splice_site	rs145931096	0.0073	-	-	-	-	-	het	1
19	9	116039019	T	C	ENST00000374199	ENSG00000136875	116037623	116055185	ENSP00000363315	PRPF4	1	PRP4_HUMAN	-	-	+14bp 5'_splice_site	rs145931096	0.0073	-	-	-	-	-	het	1
20	9	116041249	A	G	ENST00000374198	ENSG00000136875	116037623	116055185	ENSP00000363313	PRPF4	1	PRP4_HUMAN	c.233A>G	p.H78R	non-syn	rs1138958	0.00275	G=60/A=8540;G=7/A=4399;G=67/A=12939	lod=268:567	TOLERATED	B	-	het	11

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding PRPF4 9:116037623..116055185 region Gbrowse