DCAF8L1

DDB1 and CUL4 associated factor 8 like 1, the group of WD repeat domain containing

Basic information

Region (hg38): X:27977992-27981449

Previous symbols: [ "WDR42B" ]

Links

ENSG00000226372 ∙ NCBI:139425 ∙ ∙ HGNC:31810 ∙ Uniprot:A6NGE4 ∙ 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 DCAF8L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF8L1 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				2		2
missense			37	6		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	8	0

Variants in DCAF8L1

This is a list of pathogenic ClinVar variants found in the DCAF8L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-27979563-C-G		not specified	Uncertain significance (Apr 07, 2022)
X-27979579-T-C		not specified	Uncertain significance (Aug 12, 2021)
X-27979652-T-G		not specified	Likely benign (Oct 10, 2023)
X-27979660-C-T		not specified	Uncertain significance (Jul 06, 2021)
X-27979666-G-C		not specified	Uncertain significance (Feb 04, 2025)
X-27979677-C-T		not specified	Uncertain significance (Aug 05, 2024)
X-27979689-C-T		not specified	Uncertain significance (Jan 10, 2023)
X-27979740-C-A		not specified	Uncertain significance (Oct 05, 2023)
X-27979779-G-A		not specified	Uncertain significance (Feb 10, 2022)
X-27979876-G-A		not specified	Uncertain significance (Jul 08, 2022)
X-27980128-T-C		not specified	Uncertain significance (Jun 22, 2023)
X-27980135-G-A			Likely benign (May 01, 2022)
X-27980149-C-T		not specified	Likely benign (Jul 09, 2021)
X-27980320-T-C		not specified	Uncertain significance (Jan 08, 2024)
X-27980340-T-C		not specified	Uncertain significance (Mar 08, 2025)
X-27980506-C-T		not specified	Uncertain significance (Aug 19, 2024)
X-27980565-G-A		not specified	Uncertain significance (Jan 23, 2024)
X-27980678-C-G		not specified	Uncertain significance (Jan 23, 2024)
X-27980692-C-T		not specified	Uncertain significance (Apr 20, 2024)
X-27980749-C-A		not specified	Uncertain significance (Mar 01, 2023)
X-27980776-G-A		not specified	Likely benign (Mar 01, 2023)
X-27980776-G-T		not specified	Uncertain significance (Mar 27, 2023)
X-27980830-T-G		not specified	Uncertain significance (Dec 11, 2023)
X-27980850-C-T		not specified	Uncertain significance (Jul 27, 2021)
X-27980859-G-A		not specified	Uncertain significance (Nov 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF8L1	protein_coding	protein_coding	ENST00000441525	1	3457

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.339	238	253	0.940	0.0000207	3964
Missense in Polyphen		21	39.085	0.53729		701
Synonymous	-1.49	121	102	1.19	0.00000876	1169
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.200
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.58

Haploinsufficiency Scores

• pHI: 0.0314
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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