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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 ARHGAP31:

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
ENSG00000031081	ARHGAP31	0	0	6	ENSG00000031081	ENST00000264245	ENSP00000264245	Rho GTPase activating protein 31 [Source:HGNC Symbol;Acc:29216]	3	119013220	119139561	1	q13.33	119013220	119139561	ARHGAP31	ARHGAP31-001	HGNC Symbol	HGNC transcript name	2	43.44	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	57514	29216	ARHGAP31	NM_020754	27517

MSeqDR Master Exome Data Set M1: 144 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	119013383	G	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	3	119013548	A	-G	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
3	3	119013558	G	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	rs4687994	0.3427	-	-	-	-	-	het	300
4	3	119013558	G	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	rs4687994	0.3427	-	-	-	-	-	hom	111
5	3	119013603	G	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	rs62265186	0.0293	-	-	-	-	-	hom	1
6	3	119013603	G	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	rs62265186	0.0293	-	-	-	-	-	het	32
7	3	119013714	C	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	rs72960626	0.105	A=438/C=7800;A=439/C=3385;A=877/C=11185	lod=32:340	-	-	-	het	151
8	3	119013714	C	A	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	5'_UTR	rs72960626	0.105	A=438/C=7800;A=439/C=3385;A=877/C=11185	lod=32:340	-	-	-	hom	9
9	3	119013867	C	-T	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
10	3	119043749	G	A	ENST00000482743	ENSG00000031081	119013220	119139561	ENSP00000418429	ARHGAP31	1	-	-	-	5'_UTR	rs77063579	0.067	-	-	-	-	-	het	16
11	3	119043824	T	C	ENST00000482743	ENSG00000031081	119013220	119139561	ENSP00000418429	ARHGAP31	1	-	-	-	+19bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
12	3	119084271	C	T	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	+6bp 5'_splice_site	rs141911639	0.0028	T=4/C=8236;T=0/C=3806;T=4/C=12042	lod=156:509	-	-	-	het	3
13	3	119084271	C	T	ENST00000482743	ENSG00000031081	119013220	119139561	ENSP00000418429	ARHGAP31	1	-	-	-	+6bp 5'_splice_site	rs141911639	0.0028	T=4/C=8236;T=0/C=3806;T=4/C=12042	lod=156:509	-	-	-	het	3
14	3	119087382	A	G	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	+19bp 5'_splice_site	rs200619820	-	G=4/A=8240;G=0/A=3742;G=4/A=11982	-	-	-	-	het	1
15	3	119087382	A	G	ENST00000482743	ENSG00000031081	119013220	119139561	ENSP00000418429	ARHGAP31	1	-	-	-	+19bp 5'_splice_site	rs200619820	-	G=4/A=8240;G=0/A=3742;G=4/A=11982	-	-	-	-	het	1
16	3	119099744	T	G	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	-7bp 3'_splice_site	rs200397968	-	G=20/T=8440;G=1/T=4211;G=21/T=12651	-	-	-	-	het	5
17	3	119099744	T	G	ENST00000482743	ENSG00000031081	119013220	119139561	ENSP00000418429	ARHGAP31	1	-	-	-	-7bp 3'_splice_site	rs200397968	-	G=20/T=8440;G=1/T=4211;G=21/T=12651	-	-	-	-	het	5
18	3	119099786	G	C	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	c.384G>C	p.L128L	syn	rs150339878	0.0085	C=2/G=8404;C=64/G=4042;C=66/G=12446	lod=262:564	-	-	-	het	1
19	3	119099786	G	C	ENST00000482743	ENSG00000031081	119013220	119139561	ENSP00000418429	ARHGAP31	1	-	c.297G>C	p.L99L	syn	rs150339878	0.0085	C=2/G=8404;C=64/G=4042;C=66/G=12446	lod=262:564	-	-	-	het	1
20	3	119101132	A	G	ENST00000264245	ENSG00000031081	119013220	119139561	ENSP00000264245	ARHGAP31	1	RHG31_HUMAN	-	-	-7bp 3'_splice_site	rs10049221	0.0083	G=128/A=8164;G=12/A=3882;G=140/A=12046	lod=131:490	-	-	-	het	24

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Transcripts and variants in the surrounding ARHGAP31 3:119013220..119139561 region Gbrowse