HEATR6
protein-codingHEAT repeat containing 6, the group of Armadillo like helical domain containing|MicroRNA protein coding host genes
Gene summary
Enables RNA binding activity. [provided by Alliance of Genome Resources, Jul 2025]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~37.9 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 HEATR6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_022070.5. 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 | 3 | 3 | ||||
| missense | 182 | 5 | 187 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 188 | 5 | 0 | 193 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_071353.4 | 20 | MANE Select | |
| Ensembl | ENSP00000184956.5 | 20 | MANE Select | |
| Ensembl | ENSP00000464927.1 | 18 | Standard | |
| Ensembl | ENSP00000464927.1 | 18 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- RNA binding
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000184956
- Coding exons
- 20
- Length
- 35738
- Individuals with no LoFs
- 125507
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 241
- Defined
- 125748
- p
- 0.000959
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.783 | 578 | 633 | 0.912 | 0.0000321 | 7623 |
| Missense (PolyPhen) | 147 | 165.05 | 0.89065 | 2027 | ||
| Synonymous | 1.02 | 226 | 246 | 0.917 | 0.0000131 | 2414 |
| Loss of Function | 2.12 | 41 | 58.5 | 0.700 | 0.00000313 | 679 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00086 | 0.00086 | rare |
| Latino/Admixed American | 0.00078 | 0.00078 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00076 | 0.00076 | rare |
| Finnish | 0.00033 | 0.00032 | rare |
| European (Non-Finnish) | 0.0014 | 0.0014 | notable |
| South Asian | 0.00067 | 0.00065 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Amplification-dependent oncogene.;
Recessive Scores
- pRec
- 0.0979
Intolerance Scores
- LoFtool
- 0.960
- RVIS EVS
- -0.99
- RVIS percentile EVS
- 8.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.341
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |