DCAF15

DDB1 and CUL4 associated factor 15, the group of DDB1 and CUL4 associated factors

Basic information

Region (hg38): 19:13952509-13961449

Previous symbols: [ "C19orf72" ]

Links

ENSG00000132017 ∙ NCBI:90379 ∙ OMIM:620109 ∙ HGNC:25095 ∙ Uniprot:Q66K64 ∙ 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 DCAF15 gene.

• not_specified (68 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAF15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138353.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2		1	3
missense			67	1		68
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	71	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAF15	protein_coding	protein_coding	ENST00000254337	13	8951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.994	0.00580	125707	0	6	125713	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.27	255	379	0.672	0.0000256	3888
Missense in Polyphen		51	137.28	0.37152		1435
Synonymous	-1.05	178	161	1.11	0.0000116	1211
Loss of Function	4.43	3	28.5	0.105	0.00000140	318

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.0000358	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in ubiquitination and degradation through a DBB1-CUL4 E3 protein-ubiquitin ligase. {ECO:0000269|PubMed:16949367}.

Intolerance Scores

• loftool: 0.0460
• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.9

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.662
• ghis: 0.612

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.969

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dcaf15

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: protein-containing complex;Cul4-RING E3 ubiquitin ligase complex
• Molecular function: protein binding