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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 ENSG00000140374:

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
ENSG00000140374	ETFA	1	149	15	ENSG00000140374	ENST00000560899	ENSP00000453422	electron-transfer-flavoprotein, alpha polypeptide [Source:HGNC Symbol;Acc:3481]	15	76507696	76603813	-1	q24.3	76518246	76603755	ETFA	ETFA-007	HGNC Symbol	HGNC transcript name	20	40.14	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	2108	3481	ETFA		27521

MSeqDR Master Exome Data Set M1: 362 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	15	76507838	C	G	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs1474117	0.52041	-	-	-	-	-	hom	49
2	15	76507838	C	G	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs1474117	0.52041	-	-	-	-	-	het	85
3	15	76507952	C	T	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs4886781	0.4447	-	-	-	-	-	het	70
4	15	76507952	C	T	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs4886781	0.4447	-	-	-	-	-	hom	16
5	15	76507997	C	G	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	15	76508565	A	-AAAT	ENST00000433983	ENSG00000140374	76507696	76603813	ENSP00000399273	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs143535013	-	-	-	-	-	-	het	30
7	15	76508565	A	-AAAT	ENST00000433983	ENSG00000140374	76507696	76603813	ENSP00000399273	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs143535013	-	-	-	-	-	-	hom	6
8	15	76508565	A	-AAAT	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs143535013	-	-	-	-	-	-	het	30
9	15	76508565	A	-AAAT	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs143535013	-	-	-	-	-	-	hom	6
10	15	76508565	A	-AAAT	ENST00000557975	ENSG00000140374	76507696	76603813	-	ETFA	-1	-	c.988_991del	p.F331NA	non-syn	rs143535013	-	-	-	-	-	-	het	30
11	15	76508565	A	-AAAT	ENST00000557975	ENSG00000140374	76507696	76603813	-	ETFA	-1	-	c.988_991del	p.F331NA	non-syn	rs143535013	-	-	-	-	-	-	hom	6
12	15	76508632	T	C	ENST00000267950	ENSG00000140374	76507696	76603813	ENSP00000267950	ETFA	-1	-	-	-	3'_UTR	rs80292319	0.0395	-	-	-	-	-	het	14
13	15	76508632	T	C	ENST00000267950	ENSG00000140374	76507696	76603813	ENSP00000267950	ETFA	-1	-	-	-	3'_UTR	rs80292319	0.0395	-	-	-	-	-	hom	6
14	15	76508632	T	C	ENST00000433983	ENSG00000140374	76507696	76603813	ENSP00000399273	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs80292319	0.0395	-	-	-	-	-	het	14
15	15	76508632	T	C	ENST00000433983	ENSG00000140374	76507696	76603813	ENSP00000399273	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs80292319	0.0395	-	-	-	-	-	hom	6
16	15	76508632	T	C	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs80292319	0.0395	-	-	-	-	-	het	14
17	15	76508632	T	C	ENST00000557943	ENSG00000140374	76507696	76603813	ENSP00000452762	ETFA	-1	ETFA_HUMAN	-	-	3'_UTR	rs80292319	0.0395	-	-	-	-	-	hom	6
18	15	76508632	T	C	ENST00000557975	ENSG00000140374	76507696	76603813	-	ETFA	-1	-	c.925A>G	p.R309G	non-syn	rs80292319	0.0395	-	-	-	-	-	het	14
19	15	76508632	T	C	ENST00000557975	ENSG00000140374	76507696	76603813	-	ETFA	-1	-	c.925A>G	p.R309G	non-syn	rs80292319	0.0395	-	-	-	-	-	hom	6
20	15	76508684	T	A	ENST00000267950	ENSG00000140374	76507696	76603813	ENSP00000267950	ETFA	-1	-	-	-	3'_UTR	rs1803550	0.9936	-	lod=27:321	-	-	-	hom	199

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Transcripts and variants in the surrounding ETFA 15:76507696..76603813 region Gbrowse