CADPS

calcium dependent secretion activator, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 3:62398346-62875416

Links

ENSG00000163618NCBI:8618OMIM:604667HGNC:1426Uniprot:Q9ULU8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CADPS gene.

  • not_specified (110 variants)
  • CADPS-related_disorder (36 variants)
  • not_provided (11 variants)
  • Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CADPS gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003716.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
23
clinvar
3
clinvar
27
missense
114
clinvar
3
clinvar
1
clinvar
118
nonsense
0
start loss
0
frameshift
2
clinvar
2
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 118 26 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CADPSprotein_codingprotein_codingENST00000383710 30477033
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001471.001257180291257470.000115
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.105257670.6850.00004468911
Missense in Polyphen1734.8220.48819321
Synonymous-1.443192881.110.00001732521
Loss of Function5.642477.60.3090.00000432862

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001540.000154
Ashkenazi Jewish0.00009940.0000992
East Asian0.0001630.000163
Finnish0.00009240.0000924
European (Non-Finnish)0.0001320.000132
Middle Eastern0.0001630.000163
South Asian0.00003270.0000327
Other0.0004910.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates catecholamine loading of DCVs. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles by acting as a PtdIns(4,5)P2-binding protein that acts at prefusion step following ATP-dependent priming and participates in DCVs-membrane fusion. However, it may also participate in small clear synaptic vesicles (SVs) exocytosis and it is unclear whether its function is related to Ca(2+) triggering (By similarity). {ECO:0000250}.;

Intolerance Scores

loftool
0.384
rvis_EVS
-1.35
rvis_percentile_EVS
4.63

Haploinsufficiency Scores

pHI
0.465
hipred
Y
hipred_score
0.658
ghis
0.590

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.373

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cadps
Phenotype
nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process
exocytosis;protein transport;synaptic vesicle exocytosis;dense core granule exocytosis
Cellular component
cytosol;cell junction;cytoplasmic vesicle membrane;presynapse
Molecular function
protein binding;lipid binding;protein kinase binding;metal ion binding