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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 ALOX5AP:

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
ENSG00000132965	ALOX5AP	0	0	1	ENSG00000132965	ENST00000380490	ENSP00000369858	arachidonate 5-lipoxygenase-activating protein [Source:HGNC Symbol;Acc:436]	13	31309645	31338556	1	q12.3	31309645	31338556	ALOX5AP	ALOX5AP-001	HGNC Symbol	HGNC transcript name	2	46.01	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	241	436	ALOX5AP	NM_001629	27513

MSeqDR Master Exome Data Set M1: 18 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	13	31309703	T	C	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	5'_UTR	rs78236471	0.0058	C=0/T=8600;C=49/T=4357;C=49/T=12957	-	-	-	-	het	1
2	13	31309719	C	T	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	5'_UTR	rs17245407	0.0959	T=1/C=8599;T=437/C=3969;T=438/C=12568	-	-	-	-	het	7
3	13	31309784	C	T	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	c.42C>T	p.I14I	syn	rs11542984	0.01	T=0/C=8600;T=57/C=4349;T=57/C=12949	lod=127:487	-	-	-	het	1
4	13	31309817	G	A	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	+5bp 5'_splice_site	NA	-	-	lod=33:343	-	-	-	het	1
5	13	31309830	C	A	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	+18bp 5'_splice_site	rs4769055	0.6936	A=2679/C=5921;A=3338/C=1068;A=6017/C=6989	-	-	-	-	het	373
6	13	31309830	C	A	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	+18bp 5'_splice_site	rs4769055	0.6936	A=2679/C=5921;A=3338/C=1068;A=6017/C=6989	-	-	-	-	hom	132
7	13	31318249	C	T	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	c.123C>T	p.S41S	syn	rs41351946	0.00647	T=56/C=8544;T=5/C=4401;T=61/C=12945	lod=72:426	-	-	-	het	14
8	13	31318249	C	T	ENST00000479597	ENSG00000132965	31309645	31338556	-	ALOX5AP	1	-	c.263C>T	p.A88V	non-syn	rs41351946	0.00647	T=56/C=8544;T=5/C=4401;T=61/C=12945	lod=72:426	-	-	-	het	14
9	13	31318308	C	A	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	+12bp 5'_splice_site	rs3803277	0.6244	A=3820/C=4780;A=1932/C=2474;A=5752/C=7254	-	-	-	-	het	429
10	13	31318308	C	A	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	+12bp 5'_splice_site	rs3803277	0.6244	A=3820/C=4780;A=1932/C=2474;A=5752/C=7254	-	-	-	-	hom	231
11	13	31318308	C	A	ENST00000479597	ENSG00000132965	31309645	31338556	-	ALOX5AP	1	-	c.322C>A	p.P108T	non-syn	rs3803277	0.6244	A=3820/C=4780;A=1932/C=2474;A=5752/C=7254	-	-	-	-	het	429
12	13	31318308	C	A	ENST00000479597	ENSG00000132965	31309645	31338556	-	ALOX5AP	1	-	c.322C>A	p.P108T	non-syn	rs3803277	0.6244	A=3820/C=4780;A=1932/C=2474;A=5752/C=7254	-	-	-	-	hom	231
13	13	31318344	G	A	ENST00000479597	ENSG00000132965	31309645	31338556	-	ALOX5AP	1	-	c.358G>A	p.G120R	non-syn	rs201018097	-	A=23/G=8577;A=6/G=4400;A=29/G=12977	-	-	-	-	het	1
14	13	31318401	T	C	ENST00000479597	ENSG00000132965	31309645	31338556	-	ALOX5AP	1	-	c.415T>C	p.F139L	non-syn	rs3803278	0.3612	-	-	-	-	-	het	215
15	13	31318401	T	C	ENST00000479597	ENSG00000132965	31309645	31338556	-	ALOX5AP	1	-	c.415T>C	p.F139L	non-syn	rs3803278	0.3612	-	-	-	-	-	hom	49
16	13	31338393	C	T	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	3'_UTR	NA	-	-	lod=39:361	-	-	-	het	1
17	13	31338462	A	G	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	3'_UTR	rs1132340	0.1225	-	-	-	-	-	het	86
18	13	31338462	A	G	ENST00000380490	ENSG00000132965	31309645	31338556	ENSP00000369858	ALOX5AP	1	AL5AP_HUMAN	-	-	3'_UTR	rs1132340	0.1225	-	-	-	-	-	hom	3

** 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 ALOX5AP 13:31309645..31338556 region Gbrowse