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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 FGD4:

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
ENSG00000139132	FGD4	0	0	18	ENSG00000139132	ENST00000473513		FYVE, RhoGEF and PH domain containing 4 [Source:HGNC Symbol;Acc:19125]	12	32552463	32798984	1	p11.21	32655095	32732574	FGD4	FGD4-008	HGNC Symbol	HGNC transcript name	18	40.83	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	121512	19125	FGD4		27519

MSeqDR Master Exome Data Set M1: 491 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	12	32552504	A	G	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	-	-	5'_UTR	rs2733698	0.5618	-	-	-	-	-	het	83
2	12	32552504	A	G	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	-	-	5'_UTR	rs2733698	0.5618	-	-	-	-	-	hom	79
3	12	32552565	A	C	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	-	-	5'_UTR	rs117574746	0.0773	-	-	-	-	-	het	22
4	12	32552565	A	C	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	-	-	5'_UTR	rs117574746	0.0773	-	-	-	-	-	hom	3
5	12	32552769	C	G	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	c.42C>G	p.I14M	non-syn	rs2651369	0.4757	-	lod=49:385	-	-	-	het	86
6	12	32552769	C	G	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	c.42C>G	p.I14M	non-syn	rs2651369	0.4757	-	lod=49:385	-	-	-	hom	22
7	12	32638971	A	G	ENST00000531134	ENSG00000139132	32552463	32798984	ENSP00000431323	FGD4	1	-	-	-	5'_UTR	rs185242794	0.0021	-	-	-	-	-	het	1
8	12	32687323	A	G	ENST00000525053	ENSG00000139132	32552463	32798984	ENSP00000433666	FGD4	1	-	-	-	5'_UTR	rs189674819	0.0029	-	-	-	-	-	het	7
9	12	32687352	A	G	ENST00000525053	ENSG00000139132	32552463	32798984	ENSP00000433666	FGD4	1	-	c.11A>G	p.K4R	non-syn	rs17537634	0.01661	-	-	-	-	-	het	26
10	12	32709837	T	A	ENST00000583694	ENSG00000139132	32552463	32798984	ENSP00000462623	FGD4	1	-	-	-	5'_UTR	rs10844242	0.5862	-	-	-	-	-	hom	1
11	12	32729341	C	G	ENST00000266482	ENSG00000139132	32552463	32798984	ENSP00000266482	FGD4	1	-	-	-	5'_UTR	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
12	12	32729341	C	G	ENST00000395740	ENSG00000139132	32552463	32798984	ENSP00000379089	FGD4	1	-	c.50C>G	p.P17R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
13	12	32729341	C	G	ENST00000427716	ENSG00000139132	32552463	32798984	ENSP00000394487	FGD4	1	FGD4_HUMAN	c.50C>G	p.P17R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
14	12	32729341	C	G	ENST00000472289	ENSG00000139132	32552463	32798984	ENSP00000434356	FGD4	1	-	c.50C>G	p.P17R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
15	12	32729341	C	G	ENST00000473513	ENSG00000139132	32552463	32798984	-	FGD4	1	-	c.473C>G	p.P158R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
16	12	32729341	C	G	ENST00000493087	ENSG00000139132	32552463	32798984	ENSP00000437109	FGD4	1	-	c.50C>G	p.P17R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
17	12	32729341	C	G	ENST00000525053	ENSG00000139132	32552463	32798984	ENSP00000433666	FGD4	1	-	c.386C>G	p.P129R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
18	12	32729341	C	G	ENST00000531134	ENSG00000139132	32552463	32798984	ENSP00000431323	FGD4	1	-	c.305C>G	p.P102R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
19	12	32729341	C	G	ENST00000534526	ENSG00000139132	32552463	32798984	ENSP00000449273	FGD4	1	-	c.461C>G	p.P154R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1
20	12	32729341	C	G	ENST00000551984	ENSG00000139132	32552463	32798984	ENSP00000449614	FGD4	1	-	c.50C>G	p.P17R	non-syn	NA	-	G=1/C=8599;G=0/C=4406;G=1/C=13005	lod=453:623	TOLERATED	P	-	het	1

** 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 FGD4 12:32552463..32798984 region Gbrowse