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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 ENSG00000178952:

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
ENSG00000178952	TUFM	1	68	15	ENSG00000178952	ENST00000313511	ENSP00000322439	Tu translation elongation factor, mitochondrial [Source:HGNC Symbol;Acc:12420]	16	28853732	28857729	-1	p11.2	28853732	28857729	TUFM	TUFM-001	HGNC Symbol	HGNC transcript name	4	55.48	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7284	12420	TUFM	NM_003321	27514

MSeqDR Master Exome Data Set M1: 59 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	28853926	A	C	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	16	28853996	A	C	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	3'_UTR	rs3088215	0.34846	-	-	-	-	-	het	253
3	16	28853996	A	C	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	3'_UTR	rs3088215	0.34846	-	-	-	-	-	hom	79
4	16	28854026	G	A	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
5	16	28854139	C	T	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	16	28854272	G	A	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	3'_UTR	rs8754	0.0575	A=2/G=8598;A=356/G=4038;A=358/G=12636	-	-	-	-	het	7
7	16	28854272	G	A	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.701C>T	p.S234F	non-syn	rs8754	0.0575	A=2/G=8598;A=356/G=4038;A=358/G=12636	-	-	-	-	het	7
8	16	28855320	A	C	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	c.1025T>G	p.V342G	non-syn	NA	-	-	lod=132:491	DAMAGING	NA	-	het	1
9	16	28855320	A	C	ENST00000565012	ENSG00000178952	28853732	28857729	ENSP00000455007	TUFM	-1	-	-	-	3'_UTR	NA	-	-	lod=132:491	DAMAGING	NA	-	het	1
10	16	28855320	A	C	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.334T>G	p.S112A	non-syn	NA	-	-	lod=132:491	DAMAGING	NA	-	het	1
11	16	28855446	C	T	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.208G>A	p.A70T	non-syn	NA	-	-	-	-	-	-	het	1
12	16	28855497	C	T	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.157G>A	p.G53S	non-syn	rs142453490	0.0089	-	-	-	-	-	het	1
13	16	28855522	G	C	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.132C>G	p.G44G	syn	rs61737565	0.34185	C=3281/G=5319;C=1192/G=3202;C=4473/G=8521	-	-	-	-	het	363
14	16	28855522	G	C	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.132C>G	p.G44G	syn	rs61737565	0.34185	C=3281/G=5319;C=1192/G=3202;C=4473/G=8521	-	-	-	-	hom	121
15	16	28855543	T	C	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	+8bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	16	28855543	T	C	ENST00000565012	ENSG00000178952	28853732	28857729	ENSP00000455007	TUFM	-1	-	-	-	+8bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
17	16	28855543	T	C	ENST00000569217	ENSG00000178952	28853732	28857729	-	TUFM	-1	-	c.111A>G	p.G37G	syn	NA	-	-	-	-	-	-	het	1
18	16	28855727	A	G	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	+13bp 5'_splice_site	rs4788099	0.35756	G=3283/A=5317;G=1195/A=3199;G=4478/A=8516	-	-	-	-	het	344
19	16	28855727	A	G	ENST00000313511	ENSG00000178952	28853732	28857729	ENSP00000322439	TUFM	-1	EFTU_HUMAN	-	-	+13bp 5'_splice_site	rs4788099	0.35756	G=3283/A=5317;G=1195/A=3199;G=4478/A=8516	-	-	-	-	hom	105
20	16	28855727	A	G	ENST00000565012	ENSG00000178952	28853732	28857729	ENSP00000455007	TUFM	-1	-	-	-	+13bp 5'_splice_site	rs4788099	0.35756	G=3283/A=5317;G=1195/A=3199;G=4478/A=8516	-	-	-	-	het	344

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding TUFM 16:28853732..28857729 region Gbrowse