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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 CSF1R:

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
ENSG00000182578	CSF1R	0	0	44	ENSG00000182578	ENST00000504875	ENSP00000422212	colony stimulating factor 1 receptor [Source:HGNC Symbol;Acc:2433]	5	149432854	149492935	-1	q32	149432854	149466153	CSF1R	CSF1R-002	HGNC Symbol	HGNC transcript name	9	48.1	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	1436	2433	CSF1R		27527

MSeqDR Master Exome Data Set M1: 229 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	5	149432863	T	C	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs3828609	0.17691	-	lod=59:405	-	-	-	het	190
2	5	149432863	T	C	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs3828609	0.17691	-	lod=59:405	-	-	-	hom	26
3	5	149432863	T	C	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs3828609	0.17691	-	lod=59:405	-	-	-	het	190
4	5	149432863	T	C	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs3828609	0.17691	-	lod=59:405	-	-	-	hom	26
5	5	149433006	G	T	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	5	149433006	G	T	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	5	149433028	T	C	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs150244467	0.0048	-	-	-	-	-	het	2
8	5	149433028	T	C	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs150244467	0.0048	-	-	-	-	-	het	2
9	5	149433120	A	G	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs13117	0.1735	-	-	-	-	-	het	62
10	5	149433120	A	G	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs13117	0.1735	-	-	-	-	-	hom	5
11	5	149433120	A	G	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs13117	0.1735	-	-	-	-	-	het	62
12	5	149433120	A	G	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs13117	0.1735	-	-	-	-	-	hom	5
13	5	149433132	G	A	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs138905856	0.0034	-	-	-	-	-	het	2
14	5	149433132	G	A	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs138905856	0.0034	-	-	-	-	-	het	2
15	5	149433322	G	T	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs41497048	0.1911	-	-	-	-	-	het	69
16	5	149433322	G	T	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs41497048	0.1911	-	-	-	-	-	hom	3
17	5	149433322	G	T	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs41497048	0.1911	-	-	-	-	-	het	69
18	5	149433322	G	T	ENST00000504875	ENSG00000182578	149432854	149492935	ENSP00000422212	CSF1R	-1	-	-	-	3'_UTR	rs41497048	0.1911	-	-	-	-	-	hom	3
19	5	149433399	G	+GC	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs199650587	-	-	-	-	-	-	hom	1
20	5	149433399	G	+GC	ENST00000286301	ENSG00000182578	149432854	149492935	ENSP00000286301	CSF1R	-1	CSF1R_HUMAN	-	-	3'_UTR	rs199650587	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding CSF1R 5:149432854..149492935 region Gbrowse