TP63
This page contains an overview of the genetic variation in the TP63 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
TP63 gene and transcript details
Gene Name
tumor protein p63
Gene Links
Ensembl: ENSG00000073282 -
Locus Reference Genomic: LRG_428
Genomic Location
Chromosome 3 : 189,349,305 - 189,612,291 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2040 bases) | Protein (680 aa) |
|---|---|---|
 |
ENST00000264731 | ENSP00000264731 |
 |
LRG_428t1 | LRG_428p1 |
 |
NM_003722.4 | |
 |
Q9H3D4 |
Summary of TP63 in Cardiomyopathies
TP63 variants in ExAC
Details of the protein-altering TP63 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 215 | 0.00288 |
| Truncating | 7 | 0.00007 |
| Missense | 184 | 0.00249 |
| Inframe | 1 | 0.00001 |
| Splice Site | 23 | 0.00031 |