RASSF7
protein-codingRas association domain family member 7, the group of Ras association domain family|Cilia and flagella associated
Gene summary
Predicted to be involved in apoptotic process and signal transduction. Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]
- C11orf13
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.6 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 RASSF7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003475.4. 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 | 2 | ||||
| missense | 91 | 3 | 1 | 95 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 92 | 5 | 1 | 98 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003466.1 | 5 | MANE Select | |
| Ensembl | ENSP00000380713.3 | 5 | MANE Select | |
| RefSeq | NP_001137465.1 | 3 | Standard | |
| RefSeq | NP_001137466.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Regulation of Actin Cytoskeleton
Biological Process
- apoptotic process
- signal transduction
- regulation of microtubule cytoskeleton organization
Molecular Function
- protein binding
Cellular Component
- cytoplasm
- microtubule organizing center
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000397583
- Coding exons
- 5
- Length
- 3618
- Individuals with no LoFs
- 125338
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 55
- Defined
- 125393
- p
- 0.000219
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -1.57 | 295 | 228 | 1.29 | 0.0000147 | 2289 |
| Missense (PolyPhen) | 102 | 83.695 | 1.2187 | 882 | ||
| Synonymous | -2.53 | 127 | 95.6 | 1.33 | 0.00000574 | 860 |
| Loss of Function | -0.154 | 16 | 15.3 | 1.04 | 8.83e-7 | 150 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00044 | 0.00043 | rare |
| Latino/Admixed American | 0.00047 | 0.00046 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000055 | 0.000054 | rare |
| Finnish | 0.00019 | 0.00018 | rare |
| European (Non-Finnish) | 0.00016 | 0.00015 | rare |
| South Asian | 0.00024 | 0.00023 | rare |
| Other | 0.00051 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti- apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization. {ECO:0000269|PubMed:20629633, ECO:0000269|PubMed:21278800}.;
Recessive Scores
- pRec
- 0.101
Intolerance Scores
- LoFtool
- 0.369
- RVIS EVS
- 0.49
- RVIS percentile EVS
- 79.52
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.965
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |