KAT7

protein-coding

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

Gene summary

The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]

Previous symbols:

MYST2

MANE transcript

NM_007067.5

Inheritance

—

ClinVar variants

U:61B:1

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.03

Max pathogenic AF

—

Genomic locus

chr17:49,788,624-49,835,026

External References & Databases

Ensembl (ENSG00000136504)

Transcript & Mutation Effects

hg38 • Region Span ~46.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KAT7 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 4

Prostate cancerTotal: 1

See casesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_007067.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar		1 clinvar	3
missense			55 clinvar			55
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	61	0	1	62

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_007067.5	RefSeq	NP_008998.1	15	MANE Select
ENST00000259021.9	Ensembl	ENSP00000259021.4	15	MANE Select
NM_001199155.2	RefSeq	NP_001186084.1	14	Standard
NM_001199156.2	RefSeq	NP_001186085.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Androgen receptor signaling pathway
Chromatin modifying enzymes
AndrogenReceptor
HATs acetylate histones
Chromatin organization

Biological Process

DNA replication
regulation of transcription, DNA-templated
stress-activated protein kinase signaling cascade
histone H3 acetylation
histone H4-K5 acetylation

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
DNA replication origin binding
histone acetyltransferase activity
protein binding
zinc ion binding

Cellular Component

histone acetyltransferase complex
nuclear chromatin
nucleus
nucleoplasm
nucleolus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000259021
Coding exons: 15
Length: 40542
Individuals with no LoFs: 125718
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125720
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	4.28	125	350	0.357	0.0000197	4015
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Intolerance Scores

RVIS EVS: -0.05
RVIS percentile EVS: 50.01

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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