DCAF11

DDB1 and CUL4 associated factor 11, the group of DDB1 and CUL4 associated factors|WD repeat domain containing

Basic information

Region (hg38): 14:24114195-24125242

Previous symbols: [ "WDR23" ]

Links

ENSG00000100897 ∙ NCBI:80344 ∙ OMIM:613317 ∙ HGNC:20258 ∙ Uniprot:Q8TEB1 ∙ 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 DCAF11 gene.

• not_specified (68 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025230.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			67	1	1	69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF11	protein_coding	protein_coding	ENST00000446197	14	11048

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00633	0.994	125291	0	457	125748	0.00182

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	259	337	0.768	0.0000202	3566
Missense in Polyphen		64	110.03	0.58168		1188
Synonymous	-0.330	123	118	1.04	0.00000589	1061
Loss of Function	3.91	11	36.5	0.301	0.00000221	342

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00645	0.00640
Ashkenazi Jewish	0.00151	0.00129
East Asian	0.000492	0.000489
Finnish	0.000194	0.000185
European (Non-Finnish)	0.00275	0.00260
Middle Eastern	0.000492	0.000489
South Asian	0.000335	0.000327
Other	0.00242	0.00228

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: 0.107

Intolerance Scores

• loftool: 0.834
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.78

Haploinsufficiency Scores

• pHI: 0.513
• hipred: Y
• hipred_score: 0.747
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dcaf11
• Phenotype: skeleton phenotype; hematopoietic system phenotype

Gene ontology

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