KAT7
lysine acetyltransferase 7, the group of Zinc fingers C2HC-type|MYST type domain containing lysine acetyltransferases
Basic information
Region (hg38): 17:49788624-49835026
Previous symbols: [ "MYST2" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (44 variants)
- not_provided (1 variants)
- Prostate_cancer (1 variants)
- See_cases (1 variants)
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. These statistics are base on transcript: NM_000007067.5. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 45 | 45 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 46 | 0 | 1 |
Loading clinvar variants...
GnomAD
Source:
| 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:
- 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
- loftool
- 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