DCAF8L2

DDB1 and CUL4 associated factor 8 like 2, the group of WD repeat domain containing

Basic information

Region (hg38): X:27590344-27749942

Previous symbols: [ "WDR42C" ]

Links

ENSG00000189186 ∙ NCBI:347442 ∙ ∙ HGNC:31811 ∙ Uniprot:P0C7V8 ∙ 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 DCAF8L2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF8L2 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			7	4		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	6	0

Variants in DCAF8L2

This is a list of pathogenic ClinVar variants found in the DCAF8L2 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-27747330-A-G			Likely benign (Sep 01, 2022)
X-27747476-A-G			Likely benign (Mar 01, 2023)
X-27747522-T-G		not specified	Uncertain significance (Apr 18, 2024)
X-27748012-A-T		not specified	Likely benign (May 23, 2023)
X-27748015-G-A		not specified	Uncertain significance (May 23, 2023)
X-27748028-A-G		not specified	Uncertain significance (Mar 30, 2024)
X-27748138-C-T		not specified	Uncertain significance (Jan 24, 2024)
X-27748227-C-A		not specified	Likely benign (Oct 12, 2022)
X-27748253-A-T		not specified	Uncertain significance (Nov 29, 2024)
X-27748280-G-A		not specified	Uncertain significance (Oct 16, 2023)
X-27748328-A-G		not specified	Uncertain significance (Sep 26, 2024)
X-27748635-T-G			Likely benign (Sep 01, 2022)
X-27748780-A-T		not specified	Likely benign (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF8L2	protein_coding	protein_coding	ENST00000451261	1	158410

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.819	0.180	122448	1	1	122450	0.00000817

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	190	250	0.761	0.0000200	4165
Missense in Polyphen		39	67.833	0.57494		1266
Synonymous	-0.674	105	96.6	1.09	0.00000785	1184
Loss of Function	2.64	1	10.0	0.0999	7.62e-7	186

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000983	0.0000634
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000125	0.00000908
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

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

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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