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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 C9orf72:

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
ENSG00000147894	C9orf72	0	0	3	ENSG00000147894	ENST00000380003	ENSP00000369339	chromosome 9 open reading frame 72 [Source:HGNC Symbol;Acc:28337]	9	27546544	27573864	-1	p21.2	27546544	27573448	C9orf72	C9orf72-001	HGNC Symbol	HGNC transcript name	5	35.83	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	203228	28337	C9orf72	NM_001256054	27518

MSeqDR Master Exome Data Set M1: 150 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	9	27546686	C	T	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	9	27546686	C	T	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4675G>A	p.G1559S	non-syn	NA	-	-	-	-	-	-	het	1
3	9	27546765	A	T	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs141012074	0.01128	-	-	-	-	-	het	10
4	9	27546765	A	T	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4596T>A	p.I1532I	syn	rs141012074	0.01128	-	-	-	-	-	het	10
5	9	27546828	A	G	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs9103	0.23464	-	-	-	-	-	hom	29
6	9	27546828	A	G	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs9103	0.23464	-	-	-	-	-	het	195
7	9	27546828	A	G	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4533T>C	p.C1511C	syn	rs9103	0.23464	-	-	-	-	-	hom	29
8	9	27546828	A	G	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4533T>C	p.C1511C	syn	rs9103	0.23464	-	-	-	-	-	het	195
9	9	27546861	T	+A	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	9	27546861	T	+A	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4499_4500insT	p.S1500NA	non-syn	NA	-	-	-	-	-	-	het	1
11	9	27546890	G	A	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs13691	0.3971	-	-	-	-	-	het	266
12	9	27546890	G	A	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs13691	0.3971	-	-	-	-	-	hom	54
13	9	27546890	G	A	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4471C>T	p.Q1491*	non-syn	rs13691	0.3971	-	-	-	-	-	het	266
14	9	27546890	G	A	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4471C>T	p.Q1491*	non-syn	rs13691	0.3971	-	-	-	-	-	hom	54
15	9	27547176	C	A	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs41272887	0.00185	-	-	-	-	-	het	6
16	9	27547176	C	A	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4185G>T	p.*1395Y	non-syn	rs41272887	0.00185	-	-	-	-	-	het	6
17	9	27547210	T	C	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
18	9	27547210	T	C	ENST00000488117	ENSG00000147894	27546544	27573864	-	C9orf72	-1	-	c.4151A>G	p.Y1384C	non-syn	NA	-	-	-	-	-	-	het	8
19	9	27547313	G	T	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs3739526	0.2812	-	-	-	-	-	hom	28
20	9	27547313	G	T	ENST00000380003	ENSG00000147894	27546544	27573864	ENSP00000369339	C9orf72	-1	CI072_HUMAN	-	-	3'_UTR	rs3739526	0.2812	-	-	-	-	-	het	196

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Transcripts and variants in the surrounding C9orf72 9:27546544..27573864 region Gbrowse