ZDHHC24

zinc finger DHHC-type containing 24, the group of Zinc fingers DHHC-type

Basic information

Region (hg38): 11:66520637-66546235

Links

ENSG00000174165 ∙ NCBI:254359 ∙ ∙ HGNC:27387 ∙ Uniprot:Q6UX98 ∙ 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 ZDHHC24 gene.

• not_specified (33 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZDHHC24 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207340.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			32	1		33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZDHHC24	protein_coding	protein_coding	ENST00000310442	3	25602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000421	0.662	125587	0	17	125604	0.0000677

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.288	149	159	0.936	0.00000948	1717
Missense in Polyphen		69	74.224	0.92962		811
Synonymous	0.768	69	77.6	0.889	0.00000461	669
Loss of Function	0.747	6	8.33	0.721	4.09e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000193	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000966	0.0000924
European (Non-Finnish)	0.0000845	0.0000793
Middle Eastern	0.00	0.00
South Asian	0.0000983	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.339
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.102

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zdhhc24
• Phenotype: normal phenotype

Gene ontology

• Biological process: protein targeting to membrane;peptidyl-L-cysteine S-palmitoylation
• Cellular component: endoplasmic reticulum;Golgi apparatus;integral component of membrane
• Molecular function: protein binding;protein-cysteine S-palmitoyltransferase activity