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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 ENSG00000169896:

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
ENSG00000169896	ITGAM	0	0	1	ENSG00000169896	ENST00000287497	ENSP00000287497	integrin, alpha M (complement component 3 receptor 3 subunit) [Source:HGNC Symbol;Acc:6149]	16	31271311	31344213	1	p11.2	31271311	31343089	ITGAM	ITGAM-002	HGNC Symbol	HGNC transcript name	8	43.36	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3684	6149	ITGAM		27514

MSeqDR Master Exome Data Set M1: 164 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	16	31271418	A	C	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	-	-	+5bp 5'_splice_site	NA	-	-	-	-	-	-	het	5
2	16	31271418	A	C	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	-	-	+5bp 5'_splice_site	NA	-	-	-	-	-	-	het	5
3	16	31273129	T	C	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	-	-	+11bp 5'_splice_site	rs3764327	0.67495	C=5882/T=2318;C=2883/T=905;C=8765/T=3223	-	-	-	-	het	347
4	16	31273129	T	C	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	-	-	+11bp 5'_splice_site	rs3764327	0.67495	C=5882/T=2318;C=2883/T=905;C=8765/T=3223	-	-	-	-	hom	549
5	16	31273129	T	C	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	-	-	+11bp 5'_splice_site	rs3764327	0.67495	C=5882/T=2318;C=2883/T=905;C=8765/T=3223	-	-	-	-	het	347
6	16	31273129	T	C	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	-	-	+11bp 5'_splice_site	rs3764327	0.67495	C=5882/T=2318;C=2883/T=905;C=8765/T=3223	-	-	-	-	hom	549
7	16	31276717	G	A	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	c.136G>A	p.V46M	non-syn	NA	-	A=1/G=8387;A=0/G=4014;A=1/G=12401	lod=60:407	DAMAGING	-	-	het	2
8	16	31276717	G	A	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	c.136G>A	p.V46M	non-syn	NA	-	A=1/G=8387;A=0/G=4014;A=1/G=12401	lod=60:407	DAMAGING	-	-	het	2
9	16	31276811	G	A	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	c.230G>A	p.R77H	non-syn	rs1143679	0.1174	A=958/G=7490;A=375/G=3739;A=1333/G=11229	-	TOLERATED	-	Systemic lupus erythematosus, association with	hom	21
10	16	31276811	G	A	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	c.230G>A	p.R77H	non-syn	rs1143679	0.1174	A=958/G=7490;A=375/G=3739;A=1333/G=11229	-	TOLERATED	-	Systemic lupus erythematosus, association with	het	176
11	16	31276811	G	A	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	c.230G>A	p.R77H	non-syn	rs1143679	0.1174	A=958/G=7490;A=375/G=3739;A=1333/G=11229	-	TOLERATED	-	Systemic lupus erythematosus, association with	hom	21
12	16	31276811	G	A	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	c.230G>A	p.R77H	non-syn	rs1143679	0.1174	A=958/G=7490;A=375/G=3739;A=1333/G=11229	-	TOLERATED	-	Systemic lupus erythematosus, association with	het	176
13	16	31277170	C	T	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	c.277C>T	p.L93L	syn	NA	-	-	lod=74:429	-	-	-	het	2
14	16	31277170	C	T	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	c.277C>T	p.L93L	syn	NA	-	-	lod=74:429	-	-	-	het	2
15	16	31282366	C	G	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	c.519C>G	p.V173V	syn	rs201527382	-	-	-	-	-	-	het	3
16	16	31282366	C	G	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	c.519C>G	p.V173V	syn	rs201527382	-	-	-	-	-	-	het	3
17	16	31283164	G	A	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	-	-	-4bp 3'_splice_site	rs35314490	0.2053	A=1032/G=7206;A=808/G=3014;A=1840/G=10220	lod=81:439	-	-	-	het	271
18	16	31283164	G	A	ENST00000287497	ENSG00000169896	31271311	31344213	ENSP00000287497	ITGAM	1	ITAM_HUMAN	-	-	-4bp 3'_splice_site	rs35314490	0.2053	A=1032/G=7206;A=808/G=3014;A=1840/G=10220	lod=81:439	-	-	-	hom	33
19	16	31283164	G	A	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	-	-	-4bp 3'_splice_site	rs35314490	0.2053	A=1032/G=7206;A=808/G=3014;A=1840/G=10220	lod=81:439	-	-	-	het	271
20	16	31283164	G	A	ENST00000544665	ENSG00000169896	31271311	31344213	ENSP00000441691	ITGAM	1	ITAM_HUMAN	-	-	-4bp 3'_splice_site	rs35314490	0.2053	A=1032/G=7206;A=808/G=3014;A=1840/G=10220	lod=81:439	-	-	-	hom	33

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Transcripts and variants in the surrounding ITGAM 16:31271311..31344213 region Gbrowse