ZDHHC8

zinc finger DHHC-type palmitoyltransferase 8, the group of Zinc fingers DHHC-type

Basic information

Region (hg38): 22:20129456-20148007

Links

ENSG00000099904 ∙ NCBI:29801 ∙ OMIM:608784 ∙ HGNC:18474 ∙ Uniprot:Q9ULC8 ∙ 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 ZDHHC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZDHHC8 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				1		1
missense			65	3		68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			14	2		16
Total	0	0	79	6	0

Variants in ZDHHC8

This is a list of pathogenic ClinVar variants found in the ZDHHC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-20139211-G-A		not specified	Uncertain significance (Oct 07, 2024)
22-20139478-C-T		not specified	Uncertain significance (Apr 23, 2024)
22-20139595-C-T		not specified	Uncertain significance (Dec 19, 2023)
22-20139815-G-A		not specified	Uncertain significance (Jun 12, 2023)
22-20139817-T-C		not specified	Uncertain significance (Jul 22, 2024)
22-20139877-C-T		not specified	Uncertain significance (Sep 22, 2023)
22-20139886-C-A		not specified	Uncertain significance (Dec 27, 2023)
22-20140149-A-T		not specified	Uncertain significance (Dec 06, 2024)
22-20140633-G-A		not specified	Uncertain significance (Aug 23, 2021)
22-20140657-G-A		not specified	Uncertain significance (Oct 20, 2024)
22-20140702-C-T		not specified	Uncertain significance (Nov 25, 2024)
22-20140879-T-C			Uncertain significance (Feb 10, 2021)
22-20140890-C-T		not specified	Uncertain significance (Aug 29, 2022)
22-20140891-G-A		not specified	Uncertain significance (Jan 31, 2024)
22-20140894-T-A		not specified	Uncertain significance (Jan 02, 2024)
22-20140897-C-T		not specified	Uncertain significance (Jul 14, 2024)
22-20140927-T-G		not specified	Uncertain significance (Dec 01, 2022)
22-20140933-C-T		not specified	Uncertain significance (Oct 25, 2024)
22-20140948-G-A		not specified	Uncertain significance (Jan 02, 2024)
22-20140948-G-T		not specified	Uncertain significance (Aug 16, 2021)
22-20141004-C-T		not specified	Uncertain significance (Oct 19, 2024)
22-20141223-G-A		not specified	Uncertain significance (Feb 16, 2023)
22-20141235-C-T		not specified	Uncertain significance (Apr 12, 2024)
22-20141427-C-A		Malignant tumor of prostate	Uncertain significance (-)
22-20141433-C-T		not specified	Uncertain significance (Jul 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZDHHC8	protein_coding	protein_coding	ENST00000405930	11	18552

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.853	0.147	125645	0	11	125656	0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	403	522	0.772	0.0000368	4908
Missense in Polyphen		178	257.16	0.69217		2491
Synonymous	-1.53	264	234	1.13	0.0000172	1748
Loss of Function	4.06	5	28.3	0.177	0.00000181	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000544
Finnish	0.0000489	0.0000462
European (Non-Finnish)	0.0000369	0.0000352
Middle Eastern	0.0000558	0.0000544
South Asian	0.000164	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Palmitoyltransferase involved in glutamatergic transmission. Mediates palmitoylation of ABCA1. {ECO:0000269|PubMed:19556522}.
• Pathway: HDL assembly;Plasma lipoprotein assembly;Transport of small molecules;Plasma lipoprotein assembly, remodeling, and clearance (Consensus)

Intolerance Scores

• loftool: 0.277
• rvis_EVS: -1.17
• rvis_percentile_EVS: 6.06

Haploinsufficiency Scores

• pHI: 0.160
• hipred: Y
• hipred_score: 0.728
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.301

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zdhhc8
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: locomotory behavior;protein palmitoylation;high-density lipoprotein particle assembly
• Cellular component: mitochondrion;Golgi apparatus;cytosol;integral component of membrane;cytoplasmic vesicle membrane
• Molecular function: palmitoyltransferase activity;protein-cysteine S-palmitoyltransferase activity