ZDHHC18

zinc finger DHHC-type palmitoyltransferase 18, the group of Zinc fingers DHHC-type

Basic information

Region (hg38): 1:26826687-26857604

Links

ENSG00000204160 ∙ NCBI:84243 ∙ ∙ HGNC:20712 ∙ Uniprot:Q9NUE0 ∙ 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 ZDHHC18 gene.

• Inborn genetic diseases (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZDHHC18 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	0

Variants in ZDHHC18

This is a list of pathogenic ClinVar variants found in the ZDHHC18 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-26826845-C-T		not specified	Uncertain significance (Jul 17, 2023)
1-26826905-G-A		not specified	Uncertain significance (Sep 27, 2022)
1-26826926-C-T		not specified	Uncertain significance (Aug 17, 2021)
1-26826931-C-T		not specified	Uncertain significance (Jan 08, 2024)
1-26826934-G-C		not specified	Uncertain significance (Sep 17, 2021)
1-26826946-T-G		not specified	Uncertain significance (Jul 09, 2021)
1-26826949-A-G		not specified	Uncertain significance (Jul 09, 2021)
1-26826952-A-C		not specified	Uncertain significance (Jul 09, 2021)
1-26826989-T-A		not specified	Uncertain significance (May 05, 2023)
1-26827069-G-C		not specified	Uncertain significance (Aug 15, 2023)
1-26827093-A-C		not specified	Uncertain significance (Jan 04, 2024)
1-26827115-C-T		not specified	Uncertain significance (Jan 26, 2022)
1-26832475-C-T		not specified	Uncertain significance (Sep 01, 2021)
1-26832565-C-T		not specified	Uncertain significance (Mar 03, 2022)
1-26832589-G-A		not specified	Uncertain significance (Nov 08, 2022)
1-26848649-C-T		not specified	Uncertain significance (Nov 22, 2022)
1-26850304-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-26850334-A-G		not specified	Uncertain significance (Jun 29, 2023)
1-26850369-G-A		not specified	Uncertain significance (Jun 29, 2023)
1-26850437-G-C		not specified	Uncertain significance (Oct 30, 2023)
1-26850560-G-A		not specified	Uncertain significance (Jun 22, 2021)
1-26850585-C-G		not specified	Uncertain significance (Jul 08, 2022)
1-26851175-G-A		not specified	Uncertain significance (Feb 23, 2023)
1-26851194-C-T		not specified	Uncertain significance (Nov 14, 2023)
1-26852783-G-A		not specified	Uncertain significance (Jul 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZDHHC18	protein_coding	protein_coding	ENST00000374142	8	30893

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00240	0.983	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	129	194	0.665	0.0000121	2504
Missense in Polyphen		57	91.192	0.62505		992
Synonymous	1.27	65	79.4	0.819	0.00000502	834
Loss of Function	2.14	7	16.3	0.429	0.00000108	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000327	0.000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has palmitoyltransferase activity towards HRAS and LCK. {ECO:0000250}.

Intolerance Scores

• loftool: 0.724
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.433
• ghis: 0.644

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0780

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zdhhc18

Gene ontology

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