DFFB

DNA fragmentation factor subunit beta

Basic information

Region (hg38): 1:3857267-3885429

Links

ENSG00000169598 ∙ NCBI:1677 ∙ OMIM:601883 ∙ HGNC:2773 ∙ Uniprot:O76075 ∙ 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 DFFB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DFFB 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			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in DFFB

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

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

Position	Type	Phenotype	Significance	ClinVar
1-3857638-C-G		not specified	Uncertain significance (Oct 24, 2024)
1-3857657-G-T		not specified	Uncertain significance (Sep 07, 2022)
1-3858719-T-G		not specified	Uncertain significance (Oct 04, 2024)
1-3858752-A-G		not specified	Uncertain significance (Apr 09, 2024)
1-3858770-C-T		not specified	Uncertain significance (Oct 12, 2021)
1-3858782-T-G		not specified	Uncertain significance (Nov 09, 2023)
1-3858784-C-T		not specified	Uncertain significance (Jun 13, 2024)
1-3858793-C-T		not specified	Uncertain significance (Jun 06, 2023)
1-3865829-C-T		not specified	Uncertain significance (Jun 18, 2024)
1-3865877-G-A		not specified	Uncertain significance (Nov 18, 2022)
1-3865914-G-A		not specified	Uncertain significance (Nov 14, 2024)
1-3865941-A-G		not specified	Uncertain significance (Jan 31, 2023)
1-3865962-C-T		not specified	Uncertain significance (Nov 17, 2022)
1-3865989-C-T		not specified	Uncertain significance (Sep 03, 2024)
1-3868049-G-A		not specified	Uncertain significance (Jul 12, 2023)
1-3869617-C-A		not specified	Uncertain significance (Mar 28, 2024)
1-3869623-A-G		not specified	Uncertain significance (Aug 19, 2024)
1-3869624-C-T		not specified	Uncertain significance (Oct 22, 2024)
1-3869641-C-G		not specified	Uncertain significance (May 30, 2024)
1-3869725-G-A		not specified	Uncertain significance (Feb 11, 2022)
1-3872485-T-G		not specified	Uncertain significance (Dec 28, 2023)
1-3872486-G-T		not specified	Uncertain significance (Mar 21, 2023)
1-3872523-A-G		not specified	Likely benign (Sep 02, 2024)
1-3883644-A-G		not specified	Uncertain significance (Jan 24, 2024)
1-3883656-C-T		not specified	Likely benign (Mar 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DFFB	protein_coding	protein_coding	ENST00000378209	7	28149

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000113	0.826	125650	1	97	125748	0.000390

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.415	187	204	0.918	0.0000126	2196
Missense in Polyphen		48	57.315	0.83748		688
Synonymous	0.448	80	85.3	0.938	0.00000539	648
Loss of Function	1.33	10	15.7	0.637	7.54e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000434	0.000434
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.00	0.00
South Asian	0.00216	0.00213
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology.
• Pathway: Apoptosis - Homo sapiens (human);Apoptosis Modulation and Signaling;Apoptosis;Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation;Apoptotic Signaling Pathway;caspase cascade in apoptosis;granzyme a mediated apoptosis pathway;induction of apoptosis through dr3 and dr4/5 death receptors;hiv-1 nef: negative effector of fas and tnf;apoptotic dna-fragmentation and tissue homeostasis;Activation of DNA fragmentation factor;Apoptosis induced DNA fragmentation;Apoptotic execution phase;Apoptosis;Programmed Cell Death;Caspase Cascade in Apoptosis;HIV-1 Nef: Negative effector of Fas and TNF-alpha (Consensus)

Recessive Scores

• pRec: 0.149

Intolerance Scores

• loftool: 0.718
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.138
• hipred: Y
• hipred_score: 0.517
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.945

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dffb
• Phenotype: hematopoietic system phenotype; immune system phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: DNA catabolic process;apoptotic DNA fragmentation;apoptotic chromosome condensation;protein homooligomerization
• Cellular component: nuclear chromatin;nucleus;nucleoplasm;nucleolus;cytosol
• Molecular function: deoxyribonuclease activity;protein binding;enzyme binding;protein domain specific binding;identical protein binding;disordered domain specific binding