TMPO
This page contains an overview of the genetic variation in the TMPO 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:
TMPO gene and transcript details
Gene Name
thymopoietin
Gene Links
Ensembl: ENSG00000120802 -
Locus Reference Genomic: LRG_443
Genomic Location
Chromosome 12 : 98,909,646 - 98,928,120 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2082 bases) | Protein (694 aa) |
|---|---|---|
 |
ENST00000266732 | ENSP00000266732 |
 |
LRG_443t2 | LRG_443p2 |
 |
NM_003276.2 | |
 |
P42166 |
Summary of TMPO in Cardiomyopathies
TMPO variants in ExAC
Details of the protein-altering TMPO 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 | 276 | 0.00408 |
| Truncating | 20 | 0.00032 |
| Missense | 246 | 0.00361 |
| Inframe | 8 | 0.00012 |
| Splice Site | 2 | 0.00003 |