DCAF8
Basic information
Region (hg38): 1:160215715-160262549
Previous symbols: [ "WDR42A" ]
Links
Phenotypes
GenCC
Source:
- giant axonal neuropathy 2 (Limited), mode of inheritance: AD
- giant axonal neuropathy 2 (Supportive), mode of inheritance: AD
- giant axonal neuropathy 2 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Giant axonal neuropathy 2, autosomal dominant | AD | Cardiovascular | Individuals have been described with cardiomyopathy, and awareness may allow early management | Cardiovascular; Neurologic | 3859241; 24500646 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF8 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 | 8 | |||||
missense | 25 | 27 | ||||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 1 | |||||
Total | 0 | 0 | 27 | 10 | 3 |
Variants in DCAF8
This is a list of pathogenic ClinVar variants found in the DCAF8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-160217616-G-T | not specified | Uncertain significance (Jul 30, 2024) | ||
1-160217659-G-A | Giant axonal neuropathy 2 | Uncertain significance (Aug 30, 2022) | ||
1-160217660-A-G | not specified | Uncertain significance (Sep 12, 2023) | ||
1-160217675-C-T | not specified | Uncertain significance (Aug 28, 2024) | ||
1-160217702-G-A | not specified | Uncertain significance (Jun 06, 2023) | ||
1-160217707-C-T | Neurofibromatosis, type 1 | Uncertain significance (Oct 19, 2023) | ||
1-160218452-A-G | not specified | Likely benign (Nov 10, 2023) | ||
1-160218877-G-A | not specified | Uncertain significance (Nov 15, 2024) | ||
1-160222710-G-A | not specified | Uncertain significance (Mar 04, 2024) | ||
1-160224518-A-G | DCAF8-related disorder | Uncertain significance (Sep 01, 2016) | ||
1-160225090-G-A | Likely benign (Dec 31, 2019) | |||
1-160225101-C-A | Uncertain significance (Apr 01, 2024) | |||
1-160225634-T-C | not specified | Uncertain significance (Jun 11, 2021) | ||
1-160231312-C-T | not specified | Uncertain significance (May 30, 2024) | ||
1-160231339-T-C | not specified | Uncertain significance (Sep 06, 2022) | ||
1-160237131-T-G | not specified | Uncertain significance (Oct 03, 2022) | ||
1-160237135-G-A | DCAF8-related disorder | Uncertain significance (May 16, 2023) | ||
1-160237145-G-A | Giant axonal neuropathy 2 | Pathogenic (Mar 11, 2014) | ||
1-160237147-T-C | not specified | Uncertain significance (Dec 10, 2024) | ||
1-160238649-C-T | Giant axonal neuropathy 2 • DCAF8-related disorder | Benign/Likely benign (Feb 14, 2022) | ||
1-160238662-G-A | Uncertain significance (Feb 04, 2020) | |||
1-160238682-T-C | DCAF8-related disorder | Benign (Dec 31, 2019) | ||
1-160238694-G-A | Likely benign (Nov 05, 2018) | |||
1-160239654-C-A | not specified | Uncertain significance (May 04, 2022) | ||
1-160239713-T-C | not specified | Uncertain significance (Jul 27, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DCAF8 | protein_coding | protein_coding | ENST00000368073 | 12 | 69416 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 0.000396 | 125741 | 0 | 4 | 125745 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.15 | 191 | 359 | 0.532 | 0.0000213 | 3940 |
Missense in Polyphen | 13 | 65.69 | 0.1979 | 765 | ||
Synonymous | 1.38 | 109 | 129 | 0.845 | 0.00000686 | 1137 |
Loss of Function | 4.85 | 2 | 31.3 | 0.0639 | 0.00000180 | 339 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000943 | 0.0000904 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000176 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:16964240}.;
- Disease
- DISEASE: Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100]: An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation. {ECO:0000269|PubMed:24500646}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Post-translational protein modification;Metabolism of proteins;Neddylation
(Consensus)
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- loftool
- rvis_EVS
- -0.65
- rvis_percentile_EVS
- 16.36
Haploinsufficiency Scores
- pHI
- 0.266
- hipred
- Y
- hipred_score
- 0.519
- ghis
- 0.592
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.781
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dcaf8
- Phenotype
Gene ontology
- Biological process
- protein ubiquitination;post-translational protein modification
- Cellular component
- nucleus;nucleoplasm;cytoplasm;mitochondrion;cytosol;Cul4-RING E3 ubiquitin ligase complex
- Molecular function
- protein binding