DCAF5

DDB1 and CUL4 associated factor 5, the group of WD repeat domain containing|DDB1 and CUL4 associated factors

Basic information

Region (hg38): 14:69050881-69153150

Previous symbols: [ "WDR22" ]

Links

ENSG00000139990 ∙ NCBI:8816 ∙ OMIM:603812 ∙ HGNC:20224 ∙ Uniprot:Q96JK2 ∙ 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 DCAF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF5 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			36	1		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	1	0

Variants in DCAF5

This is a list of pathogenic ClinVar variants found in the DCAF5 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-69053891-T-G		not specified	Uncertain significance (Oct 13, 2023)
14-69053935-A-T		not specified	Uncertain significance (Jan 03, 2024)
14-69053960-C-T		not specified	Uncertain significance (Aug 10, 2023)
14-69054005-T-C		not specified	Likely benign (Sep 03, 2024)
14-69054026-T-G		not specified	Uncertain significance (Dec 16, 2021)
14-69054057-T-G		not specified	Uncertain significance (Jan 26, 2022)
14-69054084-C-G		not specified	Uncertain significance (May 03, 2023)
14-69054144-C-T		not specified	Uncertain significance (Jun 11, 2021)
14-69054150-T-C		not specified	Uncertain significance (Sep 26, 2024)
14-69054153-G-C		not specified	Uncertain significance (Oct 13, 2023)
14-69054153-G-T		not specified	Uncertain significance (Oct 12, 2022)
14-69054323-C-T		not specified	Uncertain significance (Apr 01, 2024)
14-69054392-G-A		not specified	Uncertain significance (Dec 14, 2023)
14-69054450-C-A		not specified	Uncertain significance (Apr 17, 2023)
14-69054464-G-A		not specified	Uncertain significance (Dec 21, 2022)
14-69054488-A-G		not specified	Uncertain significance (Feb 28, 2023)
14-69054515-G-A		not specified	Uncertain significance (Jul 26, 2021)
14-69054526-G-C		not specified	Likely benign (Dec 03, 2024)
14-69054534-G-T		not specified	Uncertain significance (Nov 10, 2022)
14-69054594-G-A		not specified	Uncertain significance (Jul 20, 2022)
14-69054729-T-C		not specified	Uncertain significance (Aug 23, 2021)
14-69054747-C-G		not specified	Uncertain significance (Apr 25, 2022)
14-69054749-C-T		not specified	Uncertain significance (Apr 12, 2022)
14-69054757-T-G		not specified	Uncertain significance (Dec 17, 2023)
14-69054798-T-C		not specified	Likely benign (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF5	protein_coding	protein_coding	ENST00000341516	9	102270

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000110	125738	0	3	125741	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.88	364	555	0.656	0.0000331	6172
Missense in Polyphen		71	163.97	0.433		1854
Synonymous	-0.0566	216	215	1.00	0.0000118	1921
Loss of Function	5.73	0	38.2	0.00	0.00000260	394

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)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Neddylation (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.139
• rvis_EVS: -1.11
• rvis_percentile_EVS: 6.86

Haploinsufficiency Scores

• pHI: 0.584
• hipred: Y
• hipred_score: 0.816
• ghis: 0.571

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.580

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dcaf5

Gene ontology

• Biological process: protein ubiquitination;post-translational protein modification
• Cellular component: nucleoplasm;Cul4-RING E3 ubiquitin ligase complex
• Molecular function: protein binding