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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 PRICKLE2:

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
ENSG00000163637	PRICKLE2	1	1	13	ENSG00000163637	ENST00000295902	ENSP00000295902	prickle homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:20340]	3	64079543	64431152	-1	p14.1	64079543	64211131	PRICKLE2	PRICKLE2-001	HGNC Symbol	HGNC transcript name	4	41.47	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	166336	20340	PRICKLE2	NM_198859	27517

MSeqDR Master Exome Data Set M1: 160 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	3	64079930	C	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs153733	0.98983	-	-	-	-	-	het	27
2	3	64079930	C	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs153733	0.98983	-	-	-	-	-	hom	629
3	3	64079958	T	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	3	64079994	C	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs153732	0.99071	-	-	-	-	-	hom	630
5	3	64079994	C	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs153732	0.99071	-	-	-	-	-	het	27
6	3	64080012	T	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs139791258	0.0014	-	-	-	-	-	het	1
7	3	64080057	G	A	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	3	64080062	A	G	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs78263476	0.017	-	lod=13:243	-	-	-	het	4
9	3	64080255	C	A	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
10	3	64080307	T	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	3	64080489	G	A	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs14056	0.20148	-	-	-	-	-	hom	63
12	3	64080489	G	A	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs14056	0.20148	-	-	-	-	-	het	270
13	3	64080531	A	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	3	64080565	G	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs145272711	0.0044	-	-	-	-	-	het	1
15	3	64080618	G	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	3	64080656	T	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	3	64080670	C	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs140931283	0.00366	-	-	-	-	-	het	12
18	3	64080826	T	C	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	3	64080863	A	G	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	3	64080875	G	T	ENST00000295902	ENSG00000163637	64079543	64431152	ENSP00000295902	PRICKLE2	-1	PRIC2_HUMAN	-	-	3'_UTR	rs153731	0.0083	-	-	-	-	-	het	8

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Transcripts and variants in the surrounding PRICKLE2 3:64079543..64431152 region Gbrowse