PHF24

PHD finger protein 24, the group of PHD finger proteins

Basic information

Region (hg38): 9:34957608-34982544

Previous symbols: [ "KIAA1045" ]

Links

ENSG00000122733NCBI:23349OMIM:619928HGNC:29180Uniprot:Q9UPV7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PHF24 gene.

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
clinvar
1
clinvar
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)2510388
9-34971375-A-T not specified Uncertain significance (Sep 16, 2021)2250637
9-34971402-G-A not specified Uncertain significance (Aug 02, 2022)2303618
9-34971423-G-C not specified Uncertain significance (May 29, 2024)3306148
9-34971428-C-T not specified Uncertain significance (Jan 10, 2023)3212157
9-34971431-C-T not specified Uncertain significance (Dec 19, 2023)3212158
9-34971432-G-A not specified Uncertain significance (Feb 11, 2022)2292862
9-34971435-G-T not specified Uncertain significance (Oct 26, 2022)2320332
9-34971521-G-A not specified Uncertain significance (Jun 17, 2022)2352750
9-34971524-C-T not specified Uncertain significance (Oct 05, 2023)3212159
9-34971540-G-A Breast ductal adenocarcinoma Uncertain significance (Jul 20, 2015)221301
9-34971581-A-G not specified Uncertain significance (Aug 02, 2021)2240253
9-34971602-C-T not specified Uncertain significance (Mar 15, 2024)3306147
9-34971624-G-A not specified Uncertain significance (Apr 07, 2022)2281792
9-34971657-G-T not specified Uncertain significance (Feb 28, 2023)2490156
9-34972367-G-A not specified Uncertain significance (Jan 26, 2022)2272994
9-34972446-G-A not specified Uncertain significance (Mar 25, 2024)3306146
9-34972449-G-A not specified Uncertain significance (Feb 13, 2023)2460651
9-34972479-C-T not specified Uncertain significance (Jan 26, 2022)2368095
9-34976212-C-T not specified Uncertain significance (Apr 09, 2024)3306145
9-34976571-G-A not specified Uncertain significance (Jan 26, 2022)2409862
9-34976733-G-A not specified Uncertain significance (Jan 19, 2022)3212160
9-34977086-T-C not specified Uncertain significance (Dec 06, 2022)2333370
9-34977134-G-A not specified Likely benign (Aug 15, 2023)2619256
9-34977135-C-T not specified Uncertain significance (Oct 05, 2023)3212162

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PHF24protein_codingprotein_codingENST00000242315 725058
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.07000.9291247890131248020.0000521
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7212312640.8750.00001742609
Missense in Polyphen75104.690.716431082
Synonymous0.1939597.40.9750.00000564808
Loss of Function3.05621.10.2840.00000137196

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005880.0000588
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004660.0000464
European (Non-Finnish)0.00007100.0000706
Middle Eastern0.000.00
South Asian0.000.00
Other0.0003350.000330

dbNSFP

Source: dbNSFP

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