KAT7

lysine acetyltransferase 7, the group of Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases

Basic information

Region (hg38): 17:49788623-49835026

Previous symbols: [ "MYST2" ]

Links

ENSG00000136504 ∙ NCBI:11143 ∙ OMIM:609880 ∙ HGNC:17016 ∙ Uniprot:O95251 ∙ 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 KAT7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KAT7 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					1	1
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	1

Variants in KAT7

This is a list of pathogenic ClinVar variants found in the KAT7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-49791941-T-C		not specified	Uncertain significance (Aug 04, 2023)
17-49791988-G-A		not specified	Uncertain significance (May 13, 2024)
17-49796842-C-G		not specified	Uncertain significance (Mar 28, 2024)
17-49796878-C-T		not specified	Uncertain significance (Jun 21, 2022)
17-49798330-A-G		not specified	Uncertain significance (Mar 06, 2023)
17-49798376-C-T		not specified	Uncertain significance (May 20, 2024)
17-49798381-T-C		not specified	Uncertain significance (May 29, 2024)
17-49798397-T-C		not specified	Uncertain significance (Apr 23, 2024)
17-49798506-T-G		not specified	Uncertain significance (Mar 07, 2023)
17-49805437-G-A		not specified	Uncertain significance (Jun 05, 2023)
17-49811483-C-T		not specified	Uncertain significance (May 08, 2023)
17-49811539-T-G		not specified	Uncertain significance (May 01, 2023)
17-49811543-G-A		not specified	Uncertain significance (Jan 02, 2024)
17-49811556-A-T		not specified	Uncertain significance (Dec 02, 2022)
17-49817872-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-49817874-A-G		not specified	Uncertain significance (Aug 12, 2021)
17-49817887-G-T		not specified	Uncertain significance (Aug 30, 2022)
17-49817992-C-T		not specified	Uncertain significance (Oct 26, 2022)
17-49821391-A-G		not specified	Uncertain significance (Jul 12, 2022)
17-49821751-G-A			Benign (Dec 28, 2018)
17-49823295-A-G		See cases	Uncertain significance (Aug 24, 2021)
17-49826128-A-C		not specified	Uncertain significance (Jan 29, 2024)
17-49826752-C-T		Malignant tumor of prostate	Uncertain significance (-)
17-49827450-A-G		not specified	Uncertain significance (Apr 07, 2023)
17-49827493-G-C		not specified	Uncertain significance (Jan 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KAT7	protein_coding	protein_coding	ENST00000259021	15	40542

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000842	125718	0	2	125720	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.28	125	350	0.357	0.0000197	4015
Missense in Polyphen		23	135.63	0.16958		1503
Synonymous	-0.156	124	122	1.02	0.00000639	1138
Loss of Function	5.50	1	37.2	0.0269	0.00000207	433

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000885	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Involved in H3K14 (histone H3 lysine 14) acetylation and cell proliferation (By similarity). Through chromatin acetylation it may regulate DNA replication and act as a coactivator of TP53-dependent transcription. Acts as a coactivator of the licensing factor CDT1 (PubMed:18832067). Specifically represses AR-mediated transcription. {ECO:0000250|UniProtKB:Q5SVQ0, ECO:0000269|PubMed:10438470, ECO:0000269|PubMed:10930412, ECO:0000269|PubMed:11278932, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:18832067}.
• Pathway: Androgen receptor signaling pathway;Chromatin modifying enzymes;AndrogenReceptor;HATs acetylate histones;Chromatin organization;Regulation of Androgen receptor activity (Consensus)

Intolerance Scores

• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.954
• hipred: Y
• hipred_score: 0.783
• ghis: 0.547

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kat7
• 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); 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); embryo phenotype; craniofacial phenotype; growth/size/body region phenotype; cellular phenotype

Gene ontology

• Biological process: DNA replication;regulation of transcription, DNA-templated;stress-activated protein kinase signaling cascade;histone H3 acetylation;histone H4-K5 acetylation;histone H4-K8 acetylation;histone H4-K12 acetylation;histone H4-K16 acetylation;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;response to sorbitol;response to hydroxyurea;response to actinomycin D;response to dithiothreitol;response to anisomycin;positive regulation of histone H4 acetylation;positive regulation of protein localization to nucleus
• Cellular component: histone acetyltransferase complex;nuclear chromatin;nucleus;nucleoplasm;nucleolus;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA replication origin binding;histone acetyltransferase activity;protein binding;zinc ion binding;H4 histone acetyltransferase activity;histone binding;transcription regulatory region DNA binding