Gene Gene information from NCBI Gene database.
Entrez ID 1676
Gene name DNA fragmentation factor subunit alpha
Gene symbol DFFA
Synonyms (NCBI Gene)
DFF-45DFF1ICAD
Chromosome 1
Chromosome location 1p36.22
Summary Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal uni
miRNA miRNA information provided by mirtarbase database.
777
miRTarBase ID miRNA Experiments Reference
MIRT026094 hsa-miR-196a-5p Sequencing 20371350
MIRT052026 hsa-let-7b-5p CLASH 23622248
MIRT633058 hsa-miR-6796-3p HITS-CLIP 23824327
MIRT230668 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT645259 hsa-miR-5693 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 19882353
GO:0005515 Function Protein binding IPI 11371636, 19882353, 22727028, 25277244, 32296183, 33961781
GO:0005634 Component Nucleus IDA 15572351
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601882 2772 ENSG00000160049
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00273
Protein name DNA fragmentation factor subunit alpha (DNA fragmentation factor 45 kDa subunit) (DFF-45) (Inhibitor of CAD) (ICAD)
Protein function Inhibitor of the caspase-activated DNase (DFF40).
PDB 1IBX , 1IYR , 1KOY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02017 CIDE-N 18 95 CIDE-N domain Domain
PF09033 DFF-C 100 264 DNA Fragmentation factor 45kDa, C terminal domain Domain
Sequence
Sequence length 331
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Apoptosis   Apoptosis induced DNA fragmentation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28914671, 29075126, 29653556, 30393479
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 26898937
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 11473733, 29110584 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24277473
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23625600 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32955083 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 26898937
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 12181128 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 12181128 Associate
★☆☆☆☆
Found in Text Mining only
Cholecystitis Cholecystitis Pubtator 23625600 Associate
★☆☆☆☆
Found in Text Mining only