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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 MS4A2:

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
ENSG00000149534	MS4A2	0	0	1	ENSG00000149534	ENST00000524868	ENSP00000433311	membrane-spanning 4-domains, subfamily A, member 2 [Source:HGNC Symbol;Acc:7316]	11	59855734	59863444	1	q12.1	59855734	59857232	MS4A2	MS4A2-003	HGNC Symbol	HGNC transcript name	3	39.13	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	2206	7316	MS4A2		27504

MSeqDR Master Exome Data Set M1: 48 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	11	59856003	A	G	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	-	-	5'_UTR	rs188570199	0.0014	-	-	-	-	-	het	1
2	11	59856028	T	C	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	-	-	5'_UTR	rs1441586	0.42636	-	-	-	-	Asthma, aspirin-intolerant	hom	145
3	11	59856028	T	C	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	-	-	5'_UTR	rs1441586	0.42636	-	-	-	-	Asthma, aspirin-intolerant	het	262
4	11	59856253	T	C	ENST00000278888	ENSG00000149534	59855734	59863444	ENSP00000278888	MS4A2	1	FCERB_HUMAN	c.15T>C	p.S5S	syn	rs35285786	0.0102	C=0/T=8590;C=44/T=4358;C=44/T=12948	-	-	-	-	het	1
5	11	59856253	T	C	ENST00000440896	ENSG00000149534	59855734	59863444	-	MS4A2	1	-	c.117T>C	p.S39S	syn	rs35285786	0.0102	C=0/T=8590;C=44/T=4358;C=44/T=12948	-	-	-	-	het	1
6	11	59856253	T	C	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	c.15T>C	p.S5S	syn	rs35285786	0.0102	C=0/T=8590;C=44/T=4358;C=44/T=12948	-	-	-	-	het	1
7	11	59856258	G	T	ENST00000278888	ENSG00000149534	59855734	59863444	ENSP00000278888	MS4A2	1	FCERB_HUMAN	c.20G>T	p.R7M	non-syn	NA	-	-	lod=20:289	DAMAGING	B	-	het	1
8	11	59856258	G	T	ENST00000440896	ENSG00000149534	59855734	59863444	-	MS4A2	1	-	c.122G>T	p.R41M	non-syn	NA	-	-	lod=20:289	DAMAGING	B	-	het	1
9	11	59856258	G	T	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	c.20G>T	p.R7M	non-syn	NA	-	-	lod=20:289	DAMAGING	B	-	het	1
10	11	59857151	T	C	ENST00000278888	ENSG00000149534	59855734	59863444	ENSP00000278888	MS4A2	1	FCERB_HUMAN	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
11	11	59857151	T	C	ENST00000440896	ENSG00000149534	59855734	59863444	-	MS4A2	1	-	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
12	11	59857151	T	C	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	-	-	-14bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
13	11	59857166	G	A	ENST00000278888	ENSG00000149534	59855734	59863444	ENSP00000278888	MS4A2	1	FCERB_HUMAN	c.58G>A	p.V20M	non-syn	rs140532711	-	A=0/G=8590;A=2/G=4400;A=2/G=12990	-	DAMAGING	P	-	het	1
14	11	59857166	G	A	ENST00000440896	ENSG00000149534	59855734	59863444	-	MS4A2	1	-	c.160G>A	p.V54M	non-syn	rs140532711	-	A=0/G=8590;A=2/G=4400;A=2/G=12990	-	DAMAGING	P	-	het	1
15	11	59857166	G	A	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	c.58G>A	p.V20M	non-syn	rs140532711	-	A=0/G=8590;A=2/G=4400;A=2/G=12990	-	DAMAGING	P	-	het	1
16	11	59857216	C	G	ENST00000278888	ENSG00000149534	59855734	59863444	ENSP00000278888	MS4A2	1	FCERB_HUMAN	c.108C>G	p.G36G	syn	rs35107181	0.0071	G=0/C=8590;G=33/C=4369;G=33/C=12959	-	-	-	-	het	1
17	11	59857216	C	G	ENST00000440896	ENSG00000149534	59855734	59863444	-	MS4A2	1	-	c.210C>G	p.G70G	syn	rs35107181	0.0071	G=0/C=8590;G=33/C=4369;G=33/C=12959	-	-	-	-	het	1
18	11	59857216	C	G	ENST00000524868	ENSG00000149534	59855734	59863444	ENSP00000433311	MS4A2	1	-	c.108C>G	p.G36G	syn	rs35107181	0.0071	G=0/C=8590;G=33/C=4369;G=33/C=12959	-	-	-	-	het	1
19	11	59857220	C	G	ENST00000278888	ENSG00000149534	59855734	59863444	ENSP00000278888	MS4A2	1	FCERB_HUMAN	c.112C>G	p.L38V	non-syn	rs149172443	-	G=0/C=8590;G=16/C=4386;G=16/C=12976	-	TOLERATED	P	-	het	1
20	11	59857220	C	G	ENST00000440896	ENSG00000149534	59855734	59863444	-	MS4A2	1	-	c.214C>G	p.L72V	non-syn	rs149172443	-	G=0/C=8590;G=16/C=4386;G=16/C=12976	-	TOLERATED	P	-	het	1

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Transcripts and variants in the surrounding MS4A2 11:59855734..59863444 region Gbrowse