PHF24
Basic information
Region (hg38): 9:34957608-34982544
Previous symbols: [ "KIAA1045" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PHF24 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 | 25 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 25 | 1 | 0 |
Variants in PHF24
This is a list of pathogenic ClinVar variants found in the PHF24 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-34971320-C-T | not specified | Uncertain significance (Mar 23, 2023) | ||
9-34971375-A-T | not specified | Uncertain significance (Sep 16, 2021) | ||
9-34971402-G-A | not specified | Uncertain significance (Aug 02, 2022) | ||
9-34971423-G-C | not specified | Uncertain significance (May 29, 2024) | ||
9-34971428-C-T | not specified | Uncertain significance (Jan 10, 2023) | ||
9-34971431-C-T | not specified | Uncertain significance (Dec 19, 2023) | ||
9-34971432-G-A | not specified | Uncertain significance (Feb 11, 2022) | ||
9-34971435-G-T | not specified | Uncertain significance (Oct 26, 2022) | ||
9-34971521-G-A | not specified | Uncertain significance (Jun 17, 2022) | ||
9-34971524-C-T | not specified | Uncertain significance (Oct 05, 2023) | ||
9-34971540-G-A | Breast ductal adenocarcinoma | Uncertain significance (Jul 20, 2015) | ||
9-34971581-A-G | not specified | Uncertain significance (Aug 02, 2021) | ||
9-34971602-C-T | not specified | Uncertain significance (Mar 15, 2024) | ||
9-34971624-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
9-34971657-G-T | not specified | Uncertain significance (Feb 28, 2023) | ||
9-34972367-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
9-34972446-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
9-34972449-G-A | not specified | Uncertain significance (Feb 13, 2023) | ||
9-34972479-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
9-34976212-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
9-34976571-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
9-34976733-G-A | not specified | Uncertain significance (Jan 19, 2022) | ||
9-34977086-T-C | not specified | Uncertain significance (Dec 06, 2022) | ||
9-34977134-G-A | not specified | Likely benign (Aug 15, 2023) | ||
9-34977135-C-T | not specified | Uncertain significance (Oct 05, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PHF24 | protein_coding | protein_coding | ENST00000242315 | 7 | 25058 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0700 | 0.929 | 124789 | 0 | 13 | 124802 | 0.0000521 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.721 | 231 | 264 | 0.875 | 0.0000174 | 2609 |
Missense in Polyphen | 75 | 104.69 | 0.71643 | 1082 | ||
Synonymous | 0.193 | 95 | 97.4 | 0.975 | 0.00000564 | 808 |
Loss of Function | 3.05 | 6 | 21.1 | 0.284 | 0.00000137 | 196 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000588 | 0.0000588 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000466 | 0.0000464 |
European (Non-Finnish) | 0.0000710 | 0.0000706 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.000335 | 0.000330 |
dbNSFP
Source:
Intolerance Scores
- loftool
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.56
Haploinsufficiency Scores
- pHI
- 0.199
- hipred
- Y
- hipred_score
- 0.696
- ghis
- 0.560
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Phf24
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- gamma-aminobutyric acid signaling pathway;regulation of G protein-coupled receptor signaling pathway;regulation of synaptic transmission, GABAergic;detection of mechanical stimulus involved in sensory perception of pain
- Cellular component
- Molecular function
- metal ion binding