HEATR9
protein-codingHEAT repeat containing 9, the group of Armadillo like helical domain containing
Gene summary
Predicted to act upstream of or within hematopoietic progenitor cell differentiation; response to cytokine; and response to virus. [provided by Alliance of Genome Resources, Jul 2025]
- C17orf66
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~13.9 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 HEATR9 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152781.4. 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 | 0 | |||||
| missense | 75 | 8 | 83 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 76 | 8 | 0 | 84 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689994.2 | 15 | MANE Select | |
| Ensembl | ENSP00000473941.1 | 15 | MANE Select | |
| RefSeq | NP_001308324.1 | 15 | Standard | |
| Ensembl | ENSP00000474337.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- hematopoietic progenitor cell differentiation
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 0.98
- RVIS percentile EVS
- 90.43