HYPK
protein-codinghuntingtin interacting protein K
Gene summary
Enables protein folding chaperone. Involved in negative regulation of apoptotic process and protein stabilization. Located in cytoplasm and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]
- C15orf63
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to HYPK variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_016400.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 3 | 5 | |||
| missense | 14 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 14 | 2 | 3 | 19 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_057484.4 | 4 | MANE Select | |
| Ensembl | ENSP00000401155.3 | 4 | MANE Select | |
| RefSeq | NP_001186814.1 | 3 | Standard | |
| Ensembl | ENSP00000384474.2 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of apoptotic process
- protein stabilization
Molecular Function
- protein binding
- protein N-terminus binding
Cellular Component
- nucleus
- nucleoplasm
- cytoplasm
- microtubule cytoskeleton
- protein-containing complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000406925
- Coding exons
- 4
- Length
- 6902
- Individuals with no LoFs
- 125734
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 13
- Defined
- 125747
- p
- 0.0000517
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.742 | 61 | 79.6 | 0.766 | 0.00000409 | 835 |
| Missense (PolyPhen) | 8 | 17.325 | 0.46175 | 213 | ||
| Synonymous | -2.56 | 46 | 28.6 | 1.61 | 0.00000144 | 249 |
| Loss of Function | 1.24 | 3 | 6.39 | 0.469 | 3.35e-7 | 79 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000071 | 0.000070 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has a chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT. Protects against HTT polyQ-mediated apoptosis in Neuro2a neuronal cells. Required for optimal NAA10- NAA15 complex-mediated N-terminal acetylation. {ECO:0000269|PubMed:17947297, ECO:0000269|PubMed:20154145}.;
Intolerance Scores
- RVIS EVS
- 0.37
- RVIS percentile EVS
- 75.12
Essentials
- Essential (CRISPR)
- E
- Essential (CRISPR2)
- S