GeneBe

DBF4B

DBF4 zinc finger B, the group of Zinc fingers DBF-type

Basic information

Region (hg38): 17:44708608-44752264

Links

ENSG00000161692 ∙ NCBI:80174 ∙ OMIM:611661 ∙ HGNC:17883 ∙ Uniprot:Q8NFT6 ∙ 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 DBF4B gene.

  • not_specified (72 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DBF4B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145663.3. 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
67
clinvar
5
clinvar
 72
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 67 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DBF4Bprotein_codingprotein_codingENST00000315005 1443657
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.68e-110.2641256980501257480.000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8553063510.8720.00001913993
Missense in Polyphen4964.5360.75927765
Synonymous0.6491271370.9290.000007781239
Loss of Function0.9121923.80.7980.00000111280

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003290.000329
Ashkenazi Jewish0.000.00
East Asian0.0005470.000544
Finnish0.0001870.000185
European (Non-Finnish)0.0001500.000149
Middle Eastern0.0005470.000544
South Asian0.0002290.000229
Other0.0006540.000652

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulatory subunit for CDC7 which activates its kinase activity thereby playing a central role in DNA replication and cell proliferation. Required for progression of S and M phases. The complex CDC7-DBF4B selectively phosphorylates MCM2 subunit at 'Ser-40' and then is involved in regulating the initiation of DNA replication during cell cycle. {ECO:0000269|PubMed:12065429, ECO:0000269|PubMed:15668232, ECO:0000269|PubMed:17062569}.;

Intolerance Scores

loftool
0.986
rvis_EVS
0.24
rvis_percentile_EVS
69.51

Haploinsufficiency Scores

pHI
0.115
hipred
N
hipred_score
0.438
ghis
0.483

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.245

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
cell cycle;positive regulation of cell population proliferation;positive regulation of nuclear cell cycle DNA replication;positive regulation of G2/M transition of mitotic cell cycle;activation of protein kinase activity;positive regulation of DNA replication;positive regulation of protein serine/threonine kinase activity
Cellular component
nuclear chromatin;nucleus;nucleoplasm;cytoplasm;aggresome;Dbf4-dependent protein kinase complex;intracellular membrane-bounded organelle
Molecular function
nucleic acid binding;protein binding;zinc ion binding;protein kinase binding;protein kinase activator activity;protein serine/threonine kinase activator activity