DCAF10

DDB1 and CUL4 associated factor 10, the group of WD repeat domain containing|DDB1 and CUL4 associated factors

Basic information

Region (hg38): 9:37800554-37867666

Previous symbols: [ "WDR32" ]

Links

ENSG00000122741 ∙ NCBI:79269 ∙ OMIM:620295 ∙ HGNC:23686 ∙ Uniprot:Q5QP82 ∙ 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 DCAF10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF10 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in DCAF10

This is a list of pathogenic ClinVar variants found in the DCAF10 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-37800883-C-T		not specified	Uncertain significance (Oct 06, 2024)
9-37800892-C-T		not specified	Uncertain significance (Sep 30, 2024)
9-37800931-C-T		not specified	Uncertain significance (Aug 15, 2023)
9-37800963-G-A		not specified	Likely benign (Mar 01, 2023)
9-37800963-G-C		not specified	Likely benign (Apr 12, 2024)
9-37800984-C-G		not specified	Uncertain significance (Jan 31, 2024)
9-37801021-G-A		not specified	Uncertain significance (Mar 19, 2024)
9-37801036-C-G		not specified	Uncertain significance (Dec 10, 2024)
9-37801057-C-T		not specified	Uncertain significance (Oct 04, 2022)
9-37801065-C-T		not specified	Uncertain significance (Nov 25, 2024)
9-37801071-G-A		not specified	Uncertain significance (Mar 17, 2023)
9-37801095-C-T		not specified	Uncertain significance (Sep 25, 2023)
9-37801123-G-A		not specified	Uncertain significance (Jul 12, 2022)
9-37801123-G-T		not specified	Uncertain significance (Jun 22, 2021)
9-37801135-C-G		not specified	Uncertain significance (Jan 03, 2024)
9-37801161-G-A		not specified	Uncertain significance (Sep 04, 2024)
9-37801161-G-C		not specified	Uncertain significance (Apr 09, 2024)
9-37801207-C-T		not specified	Uncertain significance (Jan 31, 2024)
9-37801221-C-T		not specified	Uncertain significance (Jul 10, 2023)
9-37801239-G-C		not specified	Uncertain significance (Sep 12, 2023)
9-37819340-A-G		not specified	Uncertain significance (Sep 14, 2022)
9-37819341-T-C		not specified	Uncertain significance (Apr 28, 2022)
9-37842103-G-A		not specified	Uncertain significance (Oct 03, 2024)
9-37842135-A-G		not specified	Uncertain significance (Aug 08, 2022)
9-37854803-A-G		not specified	Uncertain significance (Apr 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF10	protein_coding	protein_coding	ENST00000377724	7	67165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.804	0.196	125722	0	5	125727	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.73	158	288	0.548	0.0000150	3525
Missense in Polyphen		49	126.89	0.38616		1496
Synonymous	0.146	112	114	0.983	0.00000568	1204
Loss of Function	3.67	4	23.0	0.174	0.00000144	269

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.0000546	0.0000544
South Asian	0.0000344	0.0000327
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}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Neddylation (Consensus)

Recessive Scores

• pRec: 0.0954

Intolerance Scores

• loftool: 0.0765
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

• pHI: 0.495
• hipred: Y
• hipred_score: 0.783
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dcaf10
• Phenotype: hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

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