AATF

apoptosis antagonizing transcription factor, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 17:36948925-37056871

Links

ENSG00000275700 ∙ NCBI:26574 ∙ OMIM:608463 ∙ HGNC:19235 ∙ Uniprot:Q9NY61 ∙ 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 AATF gene.

• not_specified (84 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AATF gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012138.4. 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						0
missense			84			84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date. {ECO:0000269|PubMed:12450794, ECO:0000269|PubMed:12847090, ECO:0000269|PubMed:14627703, ECO:0000269|PubMed:15207272}.
• Pathway: Signal Transduction;NRAGE signals death through JNK;Death Receptor Signalling;p75 NTR receptor-mediated signalling;Cell death signalling via NRAGE, NRIF and NADE;Regulation of retinoblastoma protein (Consensus)

Recessive Scores

• pRec: 0.294

Intolerance Scores

• loftool: 0.266
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.47

Haploinsufficiency Scores

• pHI: 0.667
• hipred: N
• hipred_score: 0.267

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.894

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aatf
• Phenotype: growth/size/body region phenotype; cellular phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: cellular response to DNA damage stimulus;cell adhesion;regulation of mitotic cell cycle;negative regulation of superoxide anion generation;embryonic cleavage;ribosome biogenesis;negative regulation of amyloid precursor protein biosynthetic process;negative regulation of apoptotic process;positive regulation of transcription by RNA polymerase II;negative regulation of reactive oxygen species metabolic process
• Cellular component: nucleus;nucleolus;cytoplasm;Golgi apparatus
• Molecular function: RNA binding;protein binding;protein kinase binding;leucine zipper domain binding;tau protein binding