AATF

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

Basic information

Region (hg38): 17:36948924-37056871

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.

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.

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			44			44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	0	0

Variants in AATF

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

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

Position	Type	Phenotype	Significance	ClinVar
17-36949130-C-G		not specified	Uncertain significance (Sep 01, 2021)
17-36949145-T-C		not specified	Uncertain significance (Mar 20, 2023)
17-36949169-T-G		not specified	Uncertain significance (Jun 24, 2022)
17-36949186-G-C		not specified	Uncertain significance (Dec 14, 2022)
17-36949196-C-T		not specified	Uncertain significance (Jul 09, 2021)
17-36950272-C-G		not specified	Uncertain significance (Sep 13, 2023)
17-36950322-C-T		not specified	Uncertain significance (Mar 12, 2024)
17-36950378-T-G		not specified	Uncertain significance (Apr 29, 2024)
17-36950386-G-C		not specified	Uncertain significance (Mar 14, 2023)
17-36952934-G-A		not specified	Uncertain significance (Sep 28, 2021)
17-36952958-A-T		not specified	Uncertain significance (Dec 08, 2021)
17-36952963-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-36953092-A-G		not specified	Uncertain significance (Dec 27, 2023)
17-36953126-A-G		not specified	Uncertain significance (May 10, 2022)
17-36953128-G-A		not specified	Uncertain significance (Sep 16, 2021)
17-36953135-G-A		not specified	Uncertain significance (Apr 22, 2022)
17-36953153-A-G		not specified	Uncertain significance (Jan 04, 2024)
17-36953219-A-G		not specified	Uncertain significance (Apr 13, 2022)
17-36953244-T-A		not specified	Uncertain significance (Oct 02, 2023)
17-36953808-C-G		not specified	Uncertain significance (Nov 20, 2023)
17-36953815-C-T		not specified	Uncertain significance (Dec 03, 2021)
17-36953881-C-T		not specified	Uncertain significance (May 16, 2023)
17-36986704-T-G		not specified	Uncertain significance (Dec 26, 2023)
17-36986725-C-T		not specified	Uncertain significance (Mar 28, 2023)
17-36988556-G-A		not specified	Uncertain significance (Dec 20, 2022)

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