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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 PLEKHG5:

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
ENSG00000171680	PLEKHG5	0	0	24	ENSG00000171680	ENST00000489097		pleckstrin homology domain containing, family G (with RhoGef domain) member 5 [Source:HGNC Symbol;Acc:29105]	1	6526152	6580121	-1	p36.31	6526152	6537648	PLEKHG5	PLEKHG5-008	HGNC Symbol	HGNC transcript name	14	58.85	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	57449	29105	PLEKHG5		27511

MSeqDR Master Exome Data Set M1: 1319 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	6526183	G	A	ENST00000340850	ENSG00000171680	6526152	6580121	ENSP00000344570	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	hom	17
2	1	6526183	G	A	ENST00000340850	ENSG00000171680	6526152	6580121	ENSP00000344570	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	het	130
3	1	6526183	G	A	ENST00000377748	ENSG00000171680	6526152	6580121	ENSP00000366977	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	hom	17
4	1	6526183	G	A	ENST00000377748	ENSG00000171680	6526152	6580121	ENSP00000366977	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	het	130
5	1	6526183	G	A	ENST00000400913	ENSG00000171680	6526152	6580121	ENSP00000383704	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	hom	17
6	1	6526183	G	A	ENST00000400913	ENSG00000171680	6526152	6580121	ENSP00000383704	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	het	130
7	1	6526183	G	A	ENST00000489097	ENSG00000171680	6526152	6580121	-	PLEKHG5	-1	-	c.4937C>T	p.A1646V	non-syn	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	hom	17
8	1	6526183	G	A	ENST00000489097	ENSG00000171680	6526152	6580121	-	PLEKHG5	-1	-	c.4937C>T	p.A1646V	non-syn	rs3007417	0.44	A=460/G=7516;A=1545/G=2565;A=2005/G=10081	-	-	-	-	het	130
9	1	6526202	C	-CG	ENST00000340850	ENSG00000171680	6526152	6580121	ENSP00000344570	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	1	6526202	C	-CG	ENST00000377748	ENSG00000171680	6526152	6580121	ENSP00000366977	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	1	6526202	C	-CG	ENST00000400913	ENSG00000171680	6526152	6580121	ENSP00000383704	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	1	6526202	C	-CG	ENST00000489097	ENSG00000171680	6526152	6580121	-	PLEKHG5	-1	-	c.4916_4917del	p.T1639NA	non-syn	NA	-	-	-	-	-	-	het	1
13	1	6526202	C	-CGTGCTCT	ENST00000340850	ENSG00000171680	6526152	6580121	ENSP00000344570	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs149190641	-	-	-	-	-	-	het	83
14	1	6526202	C	-CGTGCTCT	ENST00000340850	ENSG00000171680	6526152	6580121	ENSP00000344570	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs149190641	-	-	-	-	-	-	hom	10
15	1	6526202	C	-CGTGCTCT	ENST00000377748	ENSG00000171680	6526152	6580121	ENSP00000366977	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs149190641	-	-	-	-	-	-	het	83
16	1	6526202	C	-CGTGCTCT	ENST00000377748	ENSG00000171680	6526152	6580121	ENSP00000366977	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs149190641	-	-	-	-	-	-	hom	10
17	1	6526202	C	-CGTGCTCT	ENST00000400913	ENSG00000171680	6526152	6580121	ENSP00000383704	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs149190641	-	-	-	-	-	-	het	83
18	1	6526202	C	-CGTGCTCT	ENST00000400913	ENSG00000171680	6526152	6580121	ENSP00000383704	PLEKHG5	-1	PKHG5_HUMAN	-	-	3'_UTR	rs149190641	-	-	-	-	-	-	hom	10
19	1	6526202	C	-CGTGCTCT	ENST00000489097	ENSG00000171680	6526152	6580121	-	PLEKHG5	-1	-	c.4910_4917del	p.T1639NA	non-syn	rs149190641	-	-	-	-	-	-	het	83
20	1	6526202	C	-CGTGCTCT	ENST00000489097	ENSG00000171680	6526152	6580121	-	PLEKHG5	-1	-	c.4910_4917del	p.T1639NA	non-syn	rs149190641	-	-	-	-	-	-	hom	10

** 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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Transcripts and variants in the surrounding PLEKHG5 1:6526152..6580121 region Gbrowse