ZNF18

zinc finger protein 18, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 17:11977438-11997475

Links

ENSG00000154957 ∙ NCBI:7566 ∙ OMIM:194524 ∙ HGNC:12969 ∙ Uniprot:P17022 ∙ 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 ZNF18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF18 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			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in ZNF18

This is a list of pathogenic ClinVar variants found in the ZNF18 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-11978042-C-T		not specified	Uncertain significance (May 20, 2024)
17-11978207-T-C		not specified	Uncertain significance (May 26, 2024)
17-11978240-C-T		not specified	Uncertain significance (Sep 07, 2022)
17-11978242-C-G		not specified	Uncertain significance (Apr 12, 2024)
17-11978254-A-C		not specified	Uncertain significance (Jul 05, 2023)
17-11978313-C-T		not specified	Uncertain significance (Apr 18, 2024)
17-11978405-G-A		not specified	Uncertain significance (Nov 09, 2023)
17-11978438-T-C		not specified	Uncertain significance (Jan 31, 2024)
17-11978468-C-T		not specified	Uncertain significance (Aug 10, 2021)
17-11978483-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-11978655-C-T		not specified	Uncertain significance (Jun 27, 2022)
17-11978684-A-G		not specified	Likely benign (Nov 09, 2023)
17-11978738-C-A		not specified	Uncertain significance (Feb 28, 2024)
17-11983377-G-T		not specified	Uncertain significance (Feb 15, 2023)
17-11983392-G-A		not specified	Uncertain significance (Jul 31, 2023)
17-11984133-T-C		not specified	Uncertain significance (Dec 08, 2021)
17-11984149-G-T		not specified	Uncertain significance (Sep 29, 2023)
17-11992517-A-G		not specified	Uncertain significance (Sep 07, 2022)
17-11992642-C-T		not specified	Uncertain significance (Jun 17, 2024)
17-11992704-C-G		not specified	Uncertain significance (Feb 07, 2023)
17-11992792-G-A		not specified	Uncertain significance (Jul 12, 2023)
17-11992819-T-C		not specified	Uncertain significance (May 13, 2022)
17-11992823-C-T		not specified	Likely benign (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF18	protein_coding	protein_coding	ENST00000322748	6	20072

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000535	0.994	125713	1	34	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.01	239	287	0.833	0.0000143	3587
Missense in Polyphen		56	82.867	0.67578		1076
Synonymous	0.959	99	112	0.885	0.00000582	1031
Loss of Function	2.43	11	23.8	0.463	0.00000101	305

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000355	0.000355
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.000431	0.000425
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.154
• ghis: 0.496

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0871

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zkscan6

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding