ZNF418

zinc finger protein 418, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57921882-57935402

Links

ENSG00000196724 ∙ NCBI:147686 ∙ OMIM:619509 ∙ HGNC:20647 ∙ Uniprot:Q8TF45 ∙ 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 ZNF418 gene.

• not_specified (99 variants)
• not_provided (1 variants)
• Moyamoya_angiopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF418 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000133460.3. 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						0
missense		1	93	6		100
nonsense				1		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	93	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF418	protein_coding	protein_coding	ENST00000396147	3	13510

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00e-9	0.0916	125594	1	152	125747	0.000609

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.368	367	348	1.06	0.0000181	4467
Missense in Polyphen		127	119.6	1.0619		1519
Synonymous	-0.587	129	121	1.07	0.00000621	1218
Loss of Function	0.0659	14	14.3	0.981	7.86e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00527	0.00510
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000331	0.000325
Middle Eastern	0.00	0.00
South Asian	0.000265	0.000261
Other	0.00168	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. {ECO:0000269|Ref.1}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.963
• rvis_EVS: 0.07
• rvis_percentile_EVS: 59.16

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.112
• ghis: 0.535

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.724

Gene Damage Prediction

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

Gene ontology

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