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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 PRRX1:

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
ENSG00000116132	PRRX1	0	0	3	ENSG00000116132	ENST00000553786		paired related homeobox 1 [Source:HGNC Symbol;Acc:9142]	1	170631869	170708560	1	q24.2	170631869	170689044	PRRX1	PRRX1-008	HGNC Symbol	HGNC transcript name	8	39.17	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	5396	9142	PRRX1		27511

MSeqDR Master Exome Data Set M1: 168 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	1	170632384	A	G	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs56250774	0.14149	-	lod=1377:742	-	-	-	hom	18
2	1	170632384	A	G	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs56250774	0.14149	-	lod=1377:742	-	-	-	het	190
3	1	170632574	A	-G	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs11287836	-	-	-	-	-	-	het	61
4	1	170632574	A	-G	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs11287836	-	-	-	-	-	-	hom	600
5	1	170632622	C	-T	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs11362762	-	-	lod=42:369	-	-	-	het	547
6	1	170632622	C	-T	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs11362762	-	-	lod=42:369	-	-	-	hom	112
7	1	170632622	C	-TT	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=42:369	-	-	-	het	3
8	1	170632641	A	T	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs114821913	-	-	-	-	-	-	het	2
9	1	170632808	C	T	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs12121907	0.17702	-	lod=864:692	-	-	-	hom	44
10	1	170632808	C	T	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs12121907	0.17702	-	lod=864:692	-	-	-	het	205
11	1	170632839	G	A	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs73032785	0.0536	-	lod=864:692	-	-	-	het	9
12	1	170632895	C	-CTT	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=98:459	-	-	-	het	2
13	1	170632939	G	A	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs182250334	0.0023	-	lod=272:568	-	-	-	het	1
14	1	170632965	G	A	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs73032787	0.1378	-	lod=272:568	-	-	-	het	92
15	1	170632965	G	A	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs73032787	0.1378	-	lod=272:568	-	-	-	hom	9
16	1	170632991	G	A	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=272:568	-	-	-	het	1
17	1	170633060	A	G	ENST00000239461	ENSG00000116132	170631869	170708560	ENSP00000239461	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=66:417	-	-	-	het	2
18	1	170633060	A	G	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	NA	-	-	lod=66:417	-	-	-	het	2
19	1	170633066	C	G	ENST00000239461	ENSG00000116132	170631869	170708560	ENSP00000239461	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs645196	0.999	-	lod=66:417	-	-	-	hom	661
20	1	170633066	C	G	ENST00000367760	ENSG00000116132	170631869	170708560	ENSP00000356734	PRRX1	1	PRRX1_HUMAN	-	-	5'_UTR	rs645196	0.999	-	lod=66:417	-	-	-	hom	661

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Transcripts and variants in the surrounding PRRX1 1:170631869..170708560 region Gbrowse