AATK

apoptosis associated tyrosine kinase, the group of Protein phosphatase 1 regulatory subunits|Receptor tyrosine kinases|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:81110487-81166221

Links

ENSG00000181409 ∙ NCBI:9625 ∙ OMIM:605276 ∙ HGNC:21 ∙ Uniprot:Q6ZMQ8 ∙ 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 AATK gene.

• not_specified (279 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AATK gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080395.3. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4		4
missense			253	24		277
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	253	28	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AATK	protein_coding	protein_coding	ENST00000326724	14	48783

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.206	0.794	124260	0	13	124273	0.0000523

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.539	697	738	0.944	0.0000501	8502
Missense in Polyphen		191	257.22	0.74256		3075
Synonymous	-3.20	435	358	1.22	0.0000287	2908
Loss of Function	4.58	10	42.0	0.238	0.00000211	521

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000277	0.000259
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000472	0.0000464
European (Non-Finnish)	0.0000735	0.0000712
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in neuronal differentiation. {ECO:0000269|PubMed:10837911}.

Recessive Scores

• pRec: 0.121

Haploinsufficiency Scores

• pHI: 0.247
• hipred: N
• hipred_score: 0.462
• ghis: 0.495

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.733

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aatk
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: protein phosphorylation;biological_process
• Cellular component: cellular_component;integral component of membrane;perinuclear region of cytoplasm
• Molecular function: protein serine/threonine kinase activity;ATP binding