ZDHHC11

zinc finger DHHC-type containing 11, the group of Zinc fingers DHHC-type

Basic information

Region (hg38): 5:795605-858973

Links

ENSG00000188818 ∙ NCBI:79844 ∙ ∙ HGNC:19158 ∙ Uniprot:Q9H8X9 ∙ 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 ZDHHC11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZDHHC11 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				2		2
missense			44	6	1	51
nonsense						0
start loss			1			1
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding			2			2
Total	0	0	47	9	1

Variants in ZDHHC11

This is a list of pathogenic ClinVar variants found in the ZDHHC11 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-801133-T-C		not specified	Uncertain significance (Oct 03, 2022)
5-801142-G-A		not specified	Uncertain significance (Mar 19, 2024)
5-801148-T-C		not specified	Uncertain significance (Dec 13, 2022)
5-801158-T-A		not specified	Uncertain significance (Nov 27, 2023)
5-801164-C-G		not specified	Likely benign (Oct 17, 2023)
5-814772-T-C		not specified	Uncertain significance (Feb 06, 2024)
5-814773-A-G		not specified	Likely benign (Nov 30, 2021)
5-814780-G-A		not specified	Uncertain significance (Jan 09, 2024)
5-814800-G-C			Likely benign (Dec 01, 2022)
5-819535-G-A		not specified	Uncertain significance (Dec 02, 2021)
5-819538-C-T		not specified	Uncertain significance (Mar 17, 2023)
5-819542-C-G		not specified	Uncertain significance (Dec 14, 2021)
5-819542-C-T		not specified	Uncertain significance (Aug 09, 2021)
5-819554-C-T		not specified	Uncertain significance (Jul 14, 2021)
5-819567-C-G		not specified	Likely benign (Apr 12, 2022)
5-819593-G-A		not specified	Uncertain significance (Jan 29, 2024)
5-821865-G-A		not specified	Uncertain significance (May 30, 2024)
5-821865-G-C		not specified	Uncertain significance (Jun 21, 2021)
5-821879-G-A		not specified	Uncertain significance (Aug 08, 2022)
5-825216-T-G		not specified	Uncertain significance (Feb 11, 2022)
5-833775-C-G		not specified	Uncertain significance (Oct 31, 2022)
5-837383-C-T		not specified	Uncertain significance (Jan 25, 2023)
5-837390-A-G		not specified	Uncertain significance (Aug 12, 2021)
5-837420-T-C		not specified	Uncertain significance (Aug 10, 2021)
5-837438-C-T		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZDHHC11	protein_coding	protein_coding	ENST00000283441	12	140631

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.10e-15	0.00556	125654	0	94	125748	0.000374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.918	259	221	1.17	0.0000131	2605
Missense in Polyphen		38	40.592	0.93615		530
Synonymous	-2.22	128	99.8	1.28	0.00000714	771
Loss of Function	-0.338	22	20.4	1.08	8.67e-7	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000939	0.000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.00245	0.00169
Finnish	0.00	0.00
European (Non-Finnish)	0.000275	0.000246
Middle Eastern	0.00245	0.00169
South Asian	0.000403	0.000359
Other	0.000413	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.978
• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.43

Haploinsufficiency Scores

• pHI: 0.0727
• hipred: N
• hipred_score: 0.112
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.683

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zdhhc11
• Phenotype: hearing/vestibular/ear 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-cysteine S-palmitoyltransferase activity