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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 FAM126A:

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
ENSG00000122591	FAM126A	1	4	6	ENSG00000122591	ENST00000432176	ENSP00000403396	family with sequence similarity 126, member A [Source:HGNC Symbol;Acc:24587]	7	22980878	23053749	-1	p15.3	22980878	23053748	FAM126A	FAM126A-001	HGNC Symbol	HGNC transcript name	8	35.37	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84668	24587	FAM126A	NM_032581	27506

MSeqDR Master Exome Data Set M1: 237 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	7	22980929	A	+AAC	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	1
2	7	22980929	A	+AAC	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	1
3	7	22980929	A	+AC	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	rs35708583	-	-	lod=172:519	-	-	-	het	244
4	7	22980929	A	+AC	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	rs35708583	-	-	lod=172:519	-	-	-	hom	100
5	7	22980929	A	+AC	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	rs35708583	-	-	lod=172:519	-	-	-	het	244
6	7	22980929	A	+AC	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	rs35708583	-	-	lod=172:519	-	-	-	hom	100
7	7	22980929	A	+C	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	1
8	7	22980929	A	+C	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	1
9	7	22980953	T	C	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	4
10	7	22980953	T	C	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	4
11	7	22981010	G	-AA	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	1
12	7	22981010	G	-AA	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	NA	-	-	lod=172:519	-	-	-	het	1
13	7	22981046	G	A	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	NA	-	-	lod=118:479	-	-	-	het	1
14	7	22981046	G	A	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	NA	-	-	lod=118:479	-	-	-	het	1
15	7	22981218	T	C	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	rs180840990	0.0066	-	lod=13:243	-	-	-	het	1
16	7	22981218	T	C	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	rs180840990	0.0066	-	lod=13:243	-	-	-	het	1
17	7	22981253	A	G	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	7	22981253	A	G	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	7	22981321	A	C	ENST00000432176	ENSG00000122591	22980878	23053749	ENSP00000403396	FAM126A	-1	HYCCI_HUMAN	-	-	3'_UTR	rs188520713	0.0015	-	lod=34:346	-	-	-	het	1
20	7	22981321	A	C	ENST00000440481	ENSG00000122591	22980878	23053749	ENSP00000397168	FAM126A	-1	-	-	-	3'_UTR	rs188520713	0.0015	-	lod=34:346	-	-	-	het	1

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Transcripts and variants in the surrounding FAM126A 7:22980878..23053749 region Gbrowse