KAT14

lysine acetyltransferase 14, the group of Lysine acetyltransferases|ATAC complex|GCN5 related N-acetyltransferases

Basic information

Region (hg38): 20:18137227-18188387

Previous symbols: [ "CSRP2BP" ]

Links

ENSG00000149474 ∙ NCBI:57325 ∙ OMIM:617501 ∙ HGNC:15904 ∙ Uniprot:Q9H8E8 ∙ 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 KAT14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KAT14 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		1	7			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		1	5	2	1	9
Total	0	2	12	2	1

Variants in KAT14

This is a list of pathogenic ClinVar variants found in the KAT14 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-18137961-T-C		PET117-related disorder	Likely benign (Dec 06, 2023)
20-18137986-C-T		not specified	Uncertain significance (Feb 16, 2023)
20-18138018-C-T			Likely benign (Feb 01, 2024)
20-18142215-G-C		not specified	Uncertain significance (Aug 22, 2023)
20-18142250-C-T		not specified	Uncertain significance (Jun 22, 2021)
20-18142268-C-G			Benign (Feb 01, 2018)
20-18142268-C-T		not specified	Uncertain significance (Nov 08, 2021)
20-18142283-C-T		Mitochondrial complex 4 deficiency, nuclear type 19	Likely pathogenic (Dec 04, 2020)
20-18142319-G-A		not specified	Uncertain significance (Feb 06, 2023)
20-18142913-C-T			Uncertain significance (Aug 01, 2023)
20-18162671-A-G		not specified	Uncertain significance (Aug 23, 2021)
20-18162673-G-A		Global developmental delay;Seizure	Likely pathogenic (-)
20-18181785-A-G		not specified	Uncertain significance (Aug 04, 2021)
20-18181819-C-T		not specified	Uncertain significance (Sep 17, 2021)
20-18184627-G-C		not specified	Uncertain significance (Sep 27, 2021)
20-18187404-A-G		not specified	Uncertain significance (Sep 01, 2021)
20-18187451-C-T		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KAT14	protein_coding	protein_coding	ENST00000435364	10	50270

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.33e-9	0.986	125656	0	92	125748	0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.775	401	447	0.897	0.0000257	5112
Missense in Polyphen		107	142.68	0.74995		1633
Synonymous	-0.185	178	175	1.02	0.0000112	1517
Loss of Function	2.36	20	35.1	0.569	0.00000189	424

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00102	0.00101
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000489	0.000489
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000309	0.000308
Middle Eastern	0.000489	0.000489
South Asian	0.000588	0.000588
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle. {ECO:0000269|PubMed:19103755}.
• Pathway: Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

• pRec: 0.0907

Intolerance Scores

• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.28

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.352
• ghis: 0.486

Essentials

• essential_gene_gene_trap: H

Mouse Genome Informatics

• Gene name: Kat14
• Phenotype: embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); pigmentation 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); vision/eye phenotype; immune system phenotype; skeleton phenotype; growth/size/body region phenotype; craniofacial phenotype; cellular phenotype

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;histone acetylation;histone H3 acetylation
• Cellular component: nucleus;Ada2/Gcn5/Ada3 transcription activator complex;cytoplasm
• Molecular function: histone acetyltransferase activity;protein binding;LIM domain binding