CAND1

cullin associated and neddylation dissociated 1, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 12:67269358-67319953

Links

ENSG00000111530 ∙ NCBI:55832 ∙ OMIM:607727 ∙ HGNC:30688 ∙ Uniprot:Q86VP6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAND1 gene.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	0	0

Variants in CAND1

This is a list of pathogenic ClinVar variants found in the CAND1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-67295107-G-A		not specified	Uncertain significance (Nov 03, 2023)
12-67297582-T-A		not specified	Uncertain significance (Feb 16, 2023)
12-67297640-G-A		not specified	Uncertain significance (Sep 20, 2023)
12-67297652-G-A		Malignant tumor of prostate	Uncertain significance (-)
12-67302437-A-T		not specified	Uncertain significance (May 27, 2022)
12-67302445-G-A		not specified	Uncertain significance (Dec 22, 2023)
12-67302454-G-A		not specified	Uncertain significance (Dec 06, 2022)
12-67302462-A-G		not specified	Uncertain significance (May 20, 2024)
12-67304660-C-A		not specified	Uncertain significance (Aug 26, 2022)
12-67304671-T-G		not specified	Uncertain significance (Aug 28, 2023)
12-67304737-C-T		not specified	Uncertain significance (Nov 07, 2022)
12-67305153-C-G		not specified	Uncertain significance (May 30, 2024)
12-67305259-C-A		not specified	Uncertain significance (Feb 27, 2024)
12-67305313-G-A		not specified	Uncertain significance (Apr 23, 2024)
12-67305350-C-T		not specified	Uncertain significance (Oct 06, 2022)
12-67305464-A-G		not specified	Uncertain significance (May 21, 2024)
12-67305465-C-A		not specified	Uncertain significance (Feb 28, 2024)
12-67305482-G-T		not specified	Uncertain significance (Jun 24, 2022)
12-67305626-C-G		not specified	Uncertain significance (Nov 30, 2022)
12-67305736-A-G		not specified	Uncertain significance (Mar 06, 2023)
12-67306012-C-A		not specified	Uncertain significance (Oct 27, 2021)
12-67306102-A-G		not specified	Uncertain significance (Aug 12, 2022)
12-67306123-G-A		not specified	Uncertain significance (Oct 05, 2023)
12-67306226-G-C		not specified	Uncertain significance (Oct 03, 2022)
12-67306334-C-T		not specified	Uncertain significance (Dec 27, 2022)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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