ADD3
Basic information
Region (hg38): 10:109996368-110135565
Previous symbols: [ "ADDL" ]
Links
Phenotypes
GenCC
Source:
- cerebral palsy, spastic quadriplegic, 3 (Limited), mode of inheritance: AR
- spastic quadriplegic cerebral palsy (Supportive), mode of inheritance: AR
- cerebral palsy, spastic quadriplegic, 3 (Strong), mode of inheritance: AR
- complex neurodevelopmental disorder with motor features (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Cerebral palsy, spastic quadriplegic, 3 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 23836506 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (164 variants)
- not_specified (80 variants)
- Cerebral_palsy,_spastic_quadriplegic,_3 (6 variants)
- ADD3-related_disorder (5 variants)
- Complex_neurodevelopmental_disorder_with_motor_features (2 variants)
- Cerebral_palsy (1 variants)
- Microcephaly (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADD3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016824.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 45 | 46 | ||||
missense | 134 | 147 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
Total | 0 | 1 | 137 | 54 | 3 |
Highest pathogenic variant AF is 0.00000867384
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ADD3 | protein_coding | protein_coding | ENST00000356080 | 14 | 139198 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.999 | 0.00120 | 125717 | 0 | 24 | 125741 | 0.0000954 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.330 | 363 | 381 | 0.952 | 0.0000191 | 4638 |
Missense in Polyphen | 110 | 134.5 | 0.81785 | 1650 | ||
Synonymous | -0.103 | 135 | 133 | 1.01 | 0.00000684 | 1348 |
Loss of Function | 5.04 | 4 | 37.2 | 0.108 | 0.00000207 | 430 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00108 | 0.00107 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000264 | 0.0000264 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin. {ECO:0000269|PubMed:23836506}.;
- Disease
- DISEASE: Cerebral palsy, spastic quadriplegic 3 (CPSQ3) [MIM:617008]: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. {ECO:0000269|PubMed:23836506}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Transport of small molecules;Miscellaneous transport and binding events
(Consensus)
Recessive Scores
- pRec
- 0.153
Intolerance Scores
- loftool
- 0.209
- rvis_EVS
- 0.16
- rvis_percentile_EVS
- 64.82
Haploinsufficiency Scores
- pHI
- 0.719
- hipred
- N
- hipred_score
- 0.465
- ghis
- 0.508
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.190
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Add3
- Phenotype
- hematopoietic system phenotype; normal phenotype;
Zebrafish Information Network
- Gene name
- add3a
- Affected structure
- intrahepatic bile duct
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- barbed-end actin filament capping;actin filament bundle assembly;transmembrane transport
- Cellular component
- condensed nuclear chromosome;nucleoplasm;cytosol;cytoskeleton;plasma membrane;brush border;cell-cell junction;cell cortex;postsynaptic density;membrane;plasma membrane raft
- Molecular function
- structural molecule activity;structural constituent of cytoskeleton;calmodulin binding;spectrin binding;actin filament binding