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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 ENSG00000171204:

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
ENSG00000171204	TMEM126B	1	9	0	ENSG00000171204	ENST00000358867	ENSP00000351737	transmembrane protein 126B [Source:HGNC Symbol;Acc:30883]	11	85339629	85347580	1	q14.1	85339629	85347546	TMEM126B	TMEM126B-001	HGNC Symbol	HGNC transcript name	11	37.22	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	55863	30883	TMEM126B	NM_018480	27504

MSeqDR Master Exome Data Set M1: 137 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	85340300	T	C	ENST00000530901	ENSG00000171204	85339629	85347580	ENSP00000435779	TMEM126B	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	11	85340300	T	C	ENST00000531477	ENSG00000171204	85339629	85347580	ENSP00000436468	TMEM126B	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	11	85340323	G	A	ENST00000530901	ENSG00000171204	85339629	85347580	ENSP00000435779	TMEM126B	1	-	-	-	+17bp 5'_splice_site	rs188943497	0.0071	-	-	-	-	-	het	1
4	11	85340323	G	A	ENST00000531477	ENSG00000171204	85339629	85347580	ENSP00000436468	TMEM126B	1	-	-	-	+17bp 5'_splice_site	rs188943497	0.0071	-	-	-	-	-	het	1
5	11	85342717	A	-T	ENST00000358867	ENSG00000171204	85339629	85347580	ENSP00000351737	TMEM126B	1	T126B_HUMAN	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
6	11	85342717	A	-T	ENST00000393375	ENSG00000171204	85339629	85347580	ENSP00000377039	TMEM126B	1	T126B_HUMAN	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
7	11	85342717	A	-T	ENST00000528361	ENSG00000171204	85339629	85347580	ENSP00000433444	TMEM126B	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
8	11	85342717	A	-T	ENST00000529197	ENSG00000171204	85339629	85347580	ENSP00000436813	TMEM126B	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
9	11	85342717	A	-T	ENST00000530783	ENSG00000171204	85339629	85347580	ENSP00000435541	TMEM126B	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
10	11	85342717	A	-T	ENST00000530901	ENSG00000171204	85339629	85347580	ENSP00000435779	TMEM126B	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
11	11	85342717	A	-T	ENST00000531477	ENSG00000171204	85339629	85347580	ENSP00000436468	TMEM126B	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
12	11	85342717	A	-T	ENST00000531718	ENSG00000171204	85339629	85347580	ENSP00000435998	TMEM126B	1	-	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
13	11	85342717	A	-T	ENST00000534341	ENSG00000171204	85339629	85347580	ENSP00000433471	TMEM126B	1	T126B_HUMAN	-	-	-13bp 3'_splice_site	NA	-	-	lod=60:407	-	-	-	het	1
14	11	85342732	T	C	ENST00000358867	ENSG00000171204	85339629	85347580	ENSP00000351737	TMEM126B	1	T126B_HUMAN	c.83T>C	p.V28A	non-syn	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1
15	11	85342732	T	C	ENST00000393375	ENSG00000171204	85339629	85347580	ENSP00000377039	TMEM126B	1	T126B_HUMAN	-	-	5'_UTR	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1
16	11	85342732	T	C	ENST00000528361	ENSG00000171204	85339629	85347580	ENSP00000433444	TMEM126B	1	-	-	-	3'_UTR	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1
17	11	85342732	T	C	ENST00000529197	ENSG00000171204	85339629	85347580	ENSP00000436813	TMEM126B	1	-	-	-	3'_UTR	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1
18	11	85342732	T	C	ENST00000530783	ENSG00000171204	85339629	85347580	ENSP00000435541	TMEM126B	1	-	-	-	3'_UTR	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1
19	11	85342732	T	C	ENST00000530901	ENSG00000171204	85339629	85347580	ENSP00000435779	TMEM126B	1	-	-	-	3'_UTR	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1
20	11	85342732	T	C	ENST00000531477	ENSG00000171204	85339629	85347580	ENSP00000436468	TMEM126B	1	-	-	-	3'_UTR	rs115581134	0.0115	C=1/T=8597;C=22/T=4382;C=23/T=12979	-	TOLERATED	-	-	het	1

** 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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Transcripts and variants in the surrounding TMEM126B 11:85339629..85347580 region Gbrowse