CAND1
Basic information
Region (hg38): 12:67269358-67319953
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (59 variants)
- Prostate_cancer (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAND1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018448.5. 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 | 0 | |||||
| missense | 60 | 60 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CAND1 | protein_coding | protein_coding | ENST00000545606 | 15 | 50671 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 2.08e-7 | 125466 | 0 | 1 | 125467 | 0.00000399 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 4.16 | 338 | 632 | 0.535 | 0.0000307 | 8047 |
| Missense in Polyphen | 58 | 209.46 | 0.2769 | 2808 | ||
| Synonymous | -0.268 | 233 | 228 | 1.02 | 0.0000113 | 2422 |
| Loss of Function | 6.22 | 1 | 47.1 | 0.0212 | 0.00000241 | 655 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000615 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar role in other cullin-RING E3 ubiquitin ligase complexes. {ECO:0000269|PubMed:12504025, ECO:0000269|PubMed:12504026, ECO:0000269|PubMed:12609982, ECO:0000269|PubMed:16449638, ECO:0000269|PubMed:21249194, ECO:0000269|PubMed:23453757}.;
- Pathway
- miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Endoderm Differentiation;Neutrophil degranulation;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Transport of small molecules;Neddylation;Iron uptake and transport
(Consensus)
Recessive Scores
- pRec
- 0.171
Intolerance Scores
- loftool
- 0.0165
- rvis_EVS
- -1.04
- rvis_percentile_EVS
- 7.71
Haploinsufficiency Scores
- pHI
- 0.345
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.706
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.990
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cand1
- Phenotype
Zebrafish Information Network
- Gene name
- cand1
- Affected structure
- atrial cardiac muscle cell action potential
- Phenotype tag
- abnormal
- Phenotype quality
- increased duration
Gene ontology
- Biological process
- cellular iron ion homeostasis;SCF complex assembly;protein ubiquitination;cell differentiation;negative regulation of catalytic activity;neutrophil degranulation;post-translational protein modification;positive regulation of RNA polymerase II transcriptional preinitiation complex assembly
- Cellular component
- ubiquitin ligase complex;extracellular region;nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;membrane;cullin-RING ubiquitin ligase complex;secretory granule lumen;extracellular exosome;ficolin-1-rich granule lumen
- Molecular function
- protein binding;TBP-class protein binding