ADAP1
protein-codingArfGAP with dual PH domains 1, the group of ArfGAPs|Pleckstrin homology domain containing
Gene summary
Enables GTPase activator activity. Predicted to be involved in cell surface receptor signaling pathway. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- CENTA1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~57.5 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 ADAP1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006869.4. 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 | 1 | 1 | 4 | ||
| missense | 54 | 2 | 56 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 61 | 3 | 1 | 65 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_006860.2 | 11 | MANE Select | |
| Ensembl | ENSP00000265846.5 | 11 | MANE Select | |
| RefSeq | NP_001271237.2 | 11 | Standard | |
| RefSeq | NP_001271238.2 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Class I PI3K signaling events
- Arf6 signaling events
Biological Process
- cell surface receptor signaling pathway
- regulation of GTPase activity
- positive regulation of GTPase activity
Molecular Function
- GTPase activator activity
- protein binding
- phosphatidylinositol-3,4,5-trisphosphate binding
- inositol 1,3,4,5 tetrakisphosphate binding
- metal ion binding
Cellular Component
- nucleus
- cytoplasm
- cytosol
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000265846
- Coding exons
- 11
- Length
- 57504
- Individuals with no LoFs
- 125457
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 13
- Defined
- 125470
- p
- 0.0000518
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.888 | 188 | 226 | 0.834 | 0.0000152 | 2419 |
| Missense (PolyPhen) | 45 | 84.191 | 0.5345 | 835 | ||
| Synonymous | -4.92 | 153 | 92.7 | 1.65 | 0.00000694 | 687 |
| Loss of Function | 3.59 | 5 | 24.0 | 0.209 | 0.00000144 | 244 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000063 | 0.000062 | rare |
| Latino/Admixed American | 0.000087 | 0.000087 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00010 | 0.000092 | rare |
| European (Non-Finnish) | 0.000063 | 0.000053 | rare |
| South Asian | 0.000033 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: GTPase-activating protein for the ADP ribosylation factor family (Probable). Binds phosphatidylinositol 3,4,5- trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). {ECO:0000269|PubMed:10448098, ECO:0000303|PubMed:10333475, ECO:0000305}.;
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- LoFtool
- 0.390
- RVIS EVS
- -0.93
- RVIS percentile EVS
- 9.55
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.653
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |