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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 TFAP2A:

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
ENSG00000137203	TFAP2A	0	0	6	ENSG00000137203	ENST00000478375		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) [Source:HGNC Symbol;Acc:11742]	6	10393419	10419892	-1	p24.3	10402259	10415218	TFAP2A	TFAP2A-002	HGNC Symbol	HGNC transcript name	20	47.57	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	7020	11742	TFAP2A		27515

MSeqDR Master Exome Data Set M1: 399 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	6	10393547	T	C	ENST00000461628	ENSG00000137203	10393419	10419892	ENSP00000417735	TFAP2A	-1	-	-	-	3'_UTR	rs143450249	0.0044	-	-	-	-	-	het	3
2	6	10393610	C	T	ENST00000461628	ENSG00000137203	10393419	10419892	ENSP00000417735	TFAP2A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
3	6	10396996	T	-ACAA	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	1
4	6	10396996	T	-ACAA	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	1
5	6	10397026	T	C	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	rs16893358	0.0276	-	lod=3665:846	-	-	-	het	3
6	6	10397026	T	C	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	rs16893358	0.0276	-	lod=3665:846	-	-	-	het	3
7	6	10397062	C	T	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	3
8	6	10397062	C	T	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	3
9	6	10397154	T	C	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	2
10	6	10397154	T	C	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	2
11	6	10397262	T	-A	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	rs79168174	-	-	lod=3665:846	-	-	-	het	7
12	6	10397262	T	-A	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	rs79168174	-	-	lod=3665:846	-	-	-	hom	1
13	6	10397262	T	-A	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	rs79168174	-	-	lod=3665:846	-	-	-	het	7
14	6	10397262	T	-A	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	rs79168174	-	-	lod=3665:846	-	-	-	hom	1
15	6	10397459	G	+GAGA	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	1
16	6	10397459	G	+GAGA	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	NA	-	-	lod=3665:846	-	-	-	het	1
17	6	10397491	C	T	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	rs80094467	0.013	-	lod=404:611	-	-	-	het	1
18	6	10397491	C	T	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	rs80094467	0.013	-	lod=404:611	-	-	-	het	1
19	6	10397563	C	-T	ENST00000379604	ENSG00000137203	10393419	10419892	ENSP00000368924	TFAP2A	-1	AP2A_HUMAN	-	-	3'_UTR	NA	-	-	lod=404:611	-	-	-	het	2
20	6	10397563	C	-T	ENST00000379613	ENSG00000137203	10393419	10419892	ENSP00000368933	TFAP2A	-1	-	-	-	3'_UTR	NA	-	-	lod=404:611	-	-	-	het	2

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Transcripts and variants in the surrounding TFAP2A 6:10393419..10419892 region Gbrowse