• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TPK1 (HGNC:17358) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
thiamin pyrophosphokinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HTPK1, PP20
%HI
43.3(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.09(Read more about gnomAD pLI score)
LOEUF
0.7(Read more about gnomAD LOEUF score)
Cytoband
7q35
Genomic Coordinates
GRCh37/hg19: chr7:144149034-144533146 NCBI Ensembl UCSC
GRCh38/hg38: chr7:144451941-144836437 NCBI Ensembl UCSC
MANE Select Transcript
NM_022445.4 ENST00000360057.7 (Read more about MANE Select)
Function
Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. {ECO:0000269|PubMed:11342111}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14319
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • childhood encephalopathy due to thiamine pyrophosphokinase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)