DCAF6

DDB1 and CUL4 associated factor 6, the group of DDB1 and CUL4 associated factors|MicroRNA protein coding host genes|WD repeat domain containing

Basic information

Region (hg38): 1:167935782-168075843

Previous symbols: [ "IQWD1" ]

Links

ENSG00000143164 ∙ NCBI:55827 ∙ OMIM:610494 ∙ HGNC:30002 ∙ Uniprot:Q58WW2 ∙ 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 DCAF6 gene.

• Inborn genetic diseases (31 variants)
• not provided (1 variants)
• Cerebral visual impairment and intellectual disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF6 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		1	30	1	1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	30	1	1

Highest pathogenic variant AF is 0.000375

Variants in DCAF6

This is a list of pathogenic ClinVar variants found in the DCAF6 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-167935811-C-G		not specified	Uncertain significance (May 25, 2022)
1-167936982-C-T		not specified	Uncertain significance (Jun 16, 2023)
1-167951857-G-A		not specified	Uncertain significance (May 09, 2022)
1-167966642-G-A		not specified	Uncertain significance (Aug 01, 2022)
1-167966687-C-T		not specified	Uncertain significance (Sep 14, 2023)
1-167974887-C-T		not specified	Uncertain significance (Mar 29, 2023)
1-167974968-A-G		not specified	Uncertain significance (May 05, 2023)
1-167974990-C-T		not specified	Uncertain significance (Jan 10, 2022)
1-167987528-C-G		not specified	Uncertain significance (Jun 03, 2022)
1-167987570-C-T		not specified	Uncertain significance (Sep 13, 2023)
1-167993264-C-T		not specified	Uncertain significance (Mar 13, 2023)
1-167993265-G-A		not specified	Uncertain significance (Oct 26, 2021)
1-167993288-A-G		not specified	Uncertain significance (Feb 14, 2023)
1-167993404-A-C		not specified	Uncertain significance (Feb 10, 2022)
1-167993414-C-T		not specified	Uncertain significance (Mar 17, 2023)
1-168002504-G-A		not specified	Uncertain significance (Dec 18, 2023)
1-168003969-G-A		not specified	Uncertain significance (Dec 02, 2021)
1-168004610-A-G		not specified	Uncertain significance (Oct 06, 2022)
1-168004685-A-C		not specified	Uncertain significance (Oct 06, 2022)
1-168004698-C-T		not specified	Uncertain significance (Feb 17, 2022)
1-168004724-C-G		not specified	Uncertain significance (Jan 19, 2022)
1-168004727-T-C		not specified	Uncertain significance (Jun 22, 2023)
1-168004730-T-C		not specified	Uncertain significance (Sep 22, 2022)
1-168015784-T-G		not specified	Uncertain significance (Jan 04, 2024)
1-168015814-G-A		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF6	protein_coding	protein_coding	ENST00000367840	22	140061

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0865	0.914	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.02	375	503	0.746	0.0000262	6197
Missense in Polyphen		183	287.3	0.63696		3527
Synonymous	-0.965	187	171	1.09	0.00000856	1830
Loss of Function	5.28	14	57.0	0.246	0.00000358	635

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000125	0.000123
Ashkenazi Jewish	0.000205	0.000198
East Asian	0.000112	0.000109
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000973	0.0000967
Middle Eastern	0.000112	0.000109
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:15784617, ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Neddylation (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.183
• rvis_EVS: -0.24
• rvis_percentile_EVS: 36.23

Haploinsufficiency Scores

• pHI: 0.539
• hipred: Y
• hipred_score: 0.704
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.948

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dcaf6

Gene ontology

• Biological process: protein ubiquitination;post-translational protein modification;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;cytosol;focal adhesion;Cul4-RING E3 ubiquitin ligase complex
• Molecular function: protein binding;nuclear receptor transcription coactivator activity