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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 33.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_024786.3	NP_079062.1	12	yes	-
ENST00000283441.13	ENSP00000283441.8	12	yes	-
NM_001393492.1	NP_001380421.1	12	-	-
ENST00000511539.1	ENSP00000427067.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZDHHC11 gene.

• not_specified (114 variants)
• not_provided (6 variants)

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. These statistics are base on transcript: NM_024786.3. 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			1	3		4
missense			103	13	1	117
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	106	16	1

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
		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

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

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