DCAF4L1

DDB1 and CUL4 associated factor 4 like 1, the group of WD repeat domain containing

Basic information

Region (hg38): 4:41981756-41986465

Previous symbols: [ "WDR21B" ]

Links

ENSG00000182308 ∙ NCBI:285429 ∙ ∙ HGNC:27723 ∙ Uniprot:Q3SXM0 ∙ 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 DCAF4L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF4L1 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in DCAF4L1

This is a list of pathogenic ClinVar variants found in the DCAF4L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-41981800-C-T		not specified	Uncertain significance (Mar 01, 2023)
4-41981805-A-G		not specified	Uncertain significance (Apr 25, 2023)
4-41981828-G-C		not specified	Uncertain significance (Dec 27, 2023)
4-41982075-G-A		not specified	Uncertain significance (Oct 09, 2024)
4-41982100-G-A		not specified	Uncertain significance (Sep 01, 2021)
4-41982138-G-C		not specified	Uncertain significance (Oct 30, 2023)
4-41982244-A-G		not specified	Uncertain significance (Jun 22, 2024)
4-41982465-A-G		not specified	Uncertain significance (Sep 30, 2024)
4-41982484-A-G		not specified	Uncertain significance (Jun 02, 2023)
4-41982495-A-G		not specified	Uncertain significance (Jan 10, 2023)
4-41982498-G-A		not specified	Uncertain significance (Jan 03, 2024)
4-41982552-C-A		not specified	Uncertain significance (Jul 13, 2022)
4-41982624-A-G		not specified	Uncertain significance (Apr 08, 2024)
4-41982694-C-T		not specified	Uncertain significance (Apr 20, 2023)
4-41982742-A-G		not specified	Uncertain significance (Sep 30, 2021)
4-41982754-A-G		not specified	Uncertain significance (Jun 02, 2023)
4-41982756-G-C		not specified	Uncertain significance (Feb 28, 2024)
4-41982829-C-T		not specified	Uncertain significance (Mar 06, 2023)
4-41982856-C-G		not specified	Uncertain significance (Jul 09, 2021)
4-41982859-A-G		not specified	Uncertain significance (Aug 02, 2022)
4-41982951-C-T		not specified	Uncertain significance (Oct 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF4L1	protein_coding	protein_coding	ENST00000333141	1	4764

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.318	0.620	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.23	147	245	0.599	0.0000165	2578
Missense in Polyphen		26	62.558	0.41561		694
Synonymous	-1.23	126	110	1.15	0.00000810	835
Loss of Function	1.44	1	4.18	0.239	4.33e-7	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	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

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.201
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.283
• hipred: N
• hipred_score: 0.431
• ghis: 0.412

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