ZDHHC14

zinc finger DHHC-type palmitoyltransferase 14, the group of Zinc fingers DHHC-type|MicroRNA protein coding host genes

Basic information

Region (hg38): 6:157381132-157678157

Links

ENSG00000175048 ∙ NCBI:79683 ∙ OMIM:619295 ∙ HGNC:20341 ∙ Uniprot:Q8IZN3 ∙ 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 ZDHHC14 gene.

• Inborn genetic diseases (16 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZDHHC14 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			16		1	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	1

Variants in ZDHHC14

This is a list of pathogenic ClinVar variants found in the ZDHHC14 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-157382110-A-G		not specified	Uncertain significance (May 25, 2022)
6-157382259-G-A		not specified	Uncertain significance (May 13, 2022)
6-157542631-G-T		not specified	Uncertain significance (Jan 06, 2023)
6-157593021-G-A		not specified	Uncertain significance (Jan 04, 2024)
6-157593044-G-A		not specified	Uncertain significance (Dec 06, 2021)
6-157632845-A-G		not specified	Uncertain significance (Dec 28, 2023)
6-157645738-G-A		not specified	Uncertain significance (Feb 23, 2023)
6-157645760-T-G		not specified	Uncertain significance (Feb 28, 2024)
6-157647311-G-C		not specified	Uncertain significance (Feb 05, 2024)
6-157653532-G-A		not specified	Uncertain significance (Feb 27, 2023)
6-157653578-C-T		not specified	Uncertain significance (Jul 06, 2021)
6-157653601-G-A		not specified	Uncertain significance (Jan 29, 2024)
6-157653608-C-T		not specified	Uncertain significance (Dec 17, 2021)
6-157672760-G-A		not specified	Uncertain significance (Mar 29, 2023)
6-157672814-G-A		not specified	Uncertain significance (Jul 20, 2021)
6-157672832-G-A		not specified	Uncertain significance (Jan 06, 2023)
6-157672838-C-A		not specified	Uncertain significance (May 31, 2022)
6-157672868-A-G		not specified	Uncertain significance (Sep 26, 2022)
6-157672887-C-T		not specified	Uncertain significance (May 16, 2022)
6-157672910-G-A			Benign (Sep 01, 2022)
6-157672941-G-A		not specified	Uncertain significance (May 18, 2022)
6-157673033-A-G		not specified	Uncertain significance (Jun 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZDHHC14	protein_coding	protein_coding	ENST00000359775	9	297014

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.715	0.285	125742	0	6	125748	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.24	192	301	0.637	0.0000180	3171
Missense in Polyphen		26	84.009	0.30949		940
Synonymous	0.0641	137	138	0.993	0.00000993	985
Loss of Function	3.52	4	21.6	0.185	0.00000121	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000989	0.0000906
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.268
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.37

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.765
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.655

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zdhhc14

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