GeneBe

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): 1:167935783-168075843

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.

  • not_specified (99 variants)
  • not_provided (1 variants)
  • Cerebral_visual_impairment_and_intellectual_disability (1 variants)
  • DCAF6-related_condition (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. These statistics are base on transcript: NM_001198956.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
1
clinvar
96
clinvar
3
clinvar
1
clinvar
 101
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 1 96 3 1

Highest pathogenic variant AF is 0.000497595

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DCAF6protein_codingprotein_codingENST00000367840 22140061
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.08650.9141257280201257480.0000795
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.023755030.7460.00002626197
Missense in Polyphen183287.30.636963527
Synonymous-0.9651871711.090.000008561830
Loss of Function5.281457.00.2460.00000358635

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001250.000123
Ashkenazi Jewish0.0002050.000198
East Asian0.0001120.000109
Finnish0.00009250.0000924
European (Non-Finnish)0.00009730.0000967
Middle Eastern0.0001120.000109
South Asian0.00003280.0000327
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dcaf6
Phenotype

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