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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 TMEM126A:

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
ENSG00000171202	TMEM126A	1	1	11	ENSG00000171202	ENST00000525353	ENSP00000431993	transmembrane protein 126A [Source:HGNC Symbol;Acc:25382]	11	85359011	85367591	1	q14.1	85359011	85367553	TMEM126A	TMEM126A-002	HGNC Symbol	HGNC transcript name	6	37.69	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	84233	25382	TMEM126A		27504

MSeqDR Master Exome Data Set M1: 56 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	11	85365107	G	C	ENST00000304511	ENSG00000171202	85359011	85367591	ENSP00000306887	TMEM126A	1	T126A_HUMAN	c.87G>C	p.R29S	non-syn	rs142717432	0.0009	C=2/G=8596;C=1/G=4405;C=3/G=13001	lod=31:336	DAMAGING	D	-	het	1
2	11	85365107	G	C	ENST00000525353	ENSG00000171202	85359011	85367591	ENSP00000431993	TMEM126A	1	-	c.109G>C	p.E37Q	non-syn	rs142717432	0.0009	C=2/G=8596;C=1/G=4405;C=3/G=13001	lod=31:336	DAMAGING	D	-	het	1
3	11	85365107	G	C	ENST00000528105	ENSG00000171202	85359011	85367591	ENSP00000436590	TMEM126A	1	-	-	-	5'_UTR	rs142717432	0.0009	C=2/G=8596;C=1/G=4405;C=3/G=13001	lod=31:336	DAMAGING	D	-	het	1
4	11	85365107	G	C	ENST00000531366	ENSG00000171202	85359011	85367591	ENSP00000436723	TMEM126A	1	-	c.87G>C	p.R29S	non-syn	rs142717432	0.0009	C=2/G=8596;C=1/G=4405;C=3/G=13001	lod=31:336	DAMAGING	D	-	het	1
5	11	85365107	G	C	ENST00000532180	ENSG00000171202	85359011	85367591	ENSP00000434357	TMEM126A	1	-	-	-	5'_UTR	rs142717432	0.0009	C=2/G=8596;C=1/G=4405;C=3/G=13001	lod=31:336	DAMAGING	D	-	het	1
6	11	85365116	T	G	ENST00000304511	ENSG00000171202	85359011	85367591	ENSP00000306887	TMEM126A	1	T126A_HUMAN	c.96T>G	p.L32L	syn	rs36100288	0.00179	G=35/T=8563;G=2/T=4404;G=37/T=12967	lod=42:369	-	-	-	het	12
7	11	85365116	T	G	ENST00000525353	ENSG00000171202	85359011	85367591	ENSP00000431993	TMEM126A	1	-	c.118T>G	p.*40G	non-syn	rs36100288	0.00179	G=35/T=8563;G=2/T=4404;G=37/T=12967	lod=42:369	-	-	-	het	12
8	11	85365116	T	G	ENST00000528105	ENSG00000171202	85359011	85367591	ENSP00000436590	TMEM126A	1	-	-	-	5'_UTR	rs36100288	0.00179	G=35/T=8563;G=2/T=4404;G=37/T=12967	lod=42:369	-	-	-	het	12
9	11	85365116	T	G	ENST00000531366	ENSG00000171202	85359011	85367591	ENSP00000436723	TMEM126A	1	-	c.96T>G	p.L32L	syn	rs36100288	0.00179	G=35/T=8563;G=2/T=4404;G=37/T=12967	lod=42:369	-	-	-	het	12
10	11	85365116	T	G	ENST00000532180	ENSG00000171202	85359011	85367591	ENSP00000434357	TMEM126A	1	-	-	-	5'_UTR	rs36100288	0.00179	G=35/T=8563;G=2/T=4404;G=37/T=12967	lod=42:369	-	-	-	het	12
11	11	85365174	A	G	ENST00000304511	ENSG00000171202	85359011	85367591	ENSP00000306887	TMEM126A	1	T126A_HUMAN	c.154A>G	p.S52G	non-syn	rs140047528	0.0009	G=26/A=8572;G=3/A=4403;G=29/A=12975	lod=153:507	TOLERATED	P	-	het	14
12	11	85365174	A	G	ENST00000525353	ENSG00000171202	85359011	85367591	ENSP00000431993	TMEM126A	1	-	-	-	3'_UTR	rs140047528	0.0009	G=26/A=8572;G=3/A=4403;G=29/A=12975	lod=153:507	TOLERATED	P	-	het	14
13	11	85365174	A	G	ENST00000528105	ENSG00000171202	85359011	85367591	ENSP00000436590	TMEM126A	1	-	-	-	5'_UTR	rs140047528	0.0009	G=26/A=8572;G=3/A=4403;G=29/A=12975	lod=153:507	TOLERATED	P	-	het	14
14	11	85365174	A	G	ENST00000531366	ENSG00000171202	85359011	85367591	ENSP00000436723	TMEM126A	1	-	c.154A>G	p.S52G	non-syn	rs140047528	0.0009	G=26/A=8572;G=3/A=4403;G=29/A=12975	lod=153:507	TOLERATED	P	-	het	14
15	11	85365174	A	G	ENST00000532180	ENSG00000171202	85359011	85367591	ENSP00000434357	TMEM126A	1	-	-	-	5'_UTR	rs140047528	0.0009	G=26/A=8572;G=3/A=4403;G=29/A=12975	lod=153:507	TOLERATED	P	-	het	14
16	11	85365314	C	T	ENST00000304511	ENSG00000171202	85359011	85367591	ENSP00000306887	TMEM126A	1	T126A_HUMAN	-	-	+14bp 5'_splice_site	rs117453673	0.0141	-	-	-	-	-	het	1
17	11	85365314	C	T	ENST00000528105	ENSG00000171202	85359011	85367591	ENSP00000436590	TMEM126A	1	-	-	-	+14bp 5'_splice_site	rs117453673	0.0141	-	-	-	-	-	het	1
18	11	85365314	C	T	ENST00000532180	ENSG00000171202	85359011	85367591	ENSP00000434357	TMEM126A	1	-	-	-	+14bp 5'_splice_site	rs117453673	0.0141	-	-	-	-	-	het	1
19	11	85366516	C	G	ENST00000528531	ENSG00000171202	85359011	85367591	-	TMEM126A	1	-	c.64C>G	p.Q22E	non-syn	rs17148306	0.2829	-	-	-	-	-	het	106
20	11	85366516	C	G	ENST00000528531	ENSG00000171202	85359011	85367591	-	TMEM126A	1	-	c.64C>G	p.Q22E	non-syn	rs17148306	0.2829	-	-	-	-	-	hom	16

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Transcripts and variants in the surrounding TMEM126A 11:85359011..85367591 region Gbrowse