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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 FERMT1:

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
ENSG00000101311	FERMT1	0	0	21	ENSG00000101311	ENST00000478194		fermitin family member 1 [Source:HGNC Symbol;Acc:15889]	20	6055492	6104191	-1	p12.3	6055492	6074819	FERMT1	FERMT1-002	HGNC Symbol	HGNC transcript name	4	42.72	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	55612	15889	FERMT1		27522

MSeqDR Master Exome Data Set M1: 242 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	20	6055526	A	C	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	20	6055526	A	C	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3288T>G	p.Y1096*	non-syn	NA	-	-	-	-	-	-	het	1
3	20	6055695	T	-G	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
4	20	6055695	T	-G	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3118_3118del	p.Q1040NA	non-syn	NA	-	-	-	-	-	-	het	7
5	20	6055696	G	+T	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	11
6	20	6055696	G	-T	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	rs11476296	-	-	-	-	-	-	het	3
7	20	6055696	G	T	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	rs60522800	-	-	-	-	-	-	hom	2
8	20	6055696	G	-T	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3117_3117del	p.K1039NA	non-syn	rs11476296	-	-	-	-	-	-	het	3
9	20	6055696	G	+T	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3117_3118insA	p.Q1040NA	non-syn	NA	-	-	-	-	-	-	het	11
10	20	6055696	G	T	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3118C>A	p.Q1040K	non-syn	rs60522800	-	-	-	-	-	-	hom	2
11	20	6055696	G	+TT	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	20	6055696	G	+TT	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3117_3118insAA	p.Q1040NA	non-syn	NA	-	-	-	-	-	-	het	2
13	20	6055751	A	G	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	rs1059396	0.4711	-	-	-	-	-	hom	42
14	20	6055751	A	G	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	rs1059396	0.4711	-	-	-	-	-	het	263
15	20	6055751	A	G	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3063T>C	p.H1021H	syn	rs1059396	0.4711	-	-	-	-	-	hom	42
16	20	6055751	A	G	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3063T>C	p.H1021H	syn	rs1059396	0.4711	-	-	-	-	-	het	263
17	20	6055762	G	A	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	rs12945	0.4461	-	-	-	-	-	het	241
18	20	6055762	G	A	ENST00000217289	ENSG00000101311	6055492	6104191	ENSP00000217289	FERMT1	-1	FERM1_HUMAN	-	-	3'_UTR	rs12945	0.4461	-	-	-	-	-	hom	28
19	20	6055762	G	A	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3052C>T	p.R1018C	non-syn	rs12945	0.4461	-	-	-	-	-	het	241
20	20	6055762	G	A	ENST00000478194	ENSG00000101311	6055492	6104191	-	FERMT1	-1	-	c.3052C>T	p.R1018C	non-syn	rs12945	0.4461	-	-	-	-	-	hom	28

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FERMT1 20:6055492..6104191 region Gbrowse