ZNF318

zinc finger protein 318, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:43307134-43369647

Links

ENSG00000171467 ∙ NCBI:24149 ∙ OMIM:617512 ∙ HGNC:13578 ∙ Uniprot:Q5VUA4 ∙ 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 ZNF318 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF318 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				5	2	7
missense			120	9	1	130
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	120	14	3

Variants in ZNF318

This is a list of pathogenic ClinVar variants found in the ZNF318 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-43307660-T-C		not specified	Uncertain significance (Nov 18, 2022)
6-43307707-T-C		not specified	Uncertain significance (Dec 13, 2022)
6-43307716-T-C		not specified	Uncertain significance (Jan 04, 2024)
6-43308334-G-T		not specified	Uncertain significance (Nov 18, 2022)
6-43308380-A-C		not specified	Uncertain significance (Jul 21, 2021)
6-43308756-A-G		not specified	Uncertain significance (Apr 25, 2022)
6-43308780-A-G		not specified	Uncertain significance (Mar 03, 2022)
6-43308788-C-G		not specified	Uncertain significance (Jul 06, 2021)
6-43337174-G-C		not specified	Uncertain significance (Dec 07, 2021)
6-43337196-C-T		not specified	Uncertain significance (Dec 16, 2022)
6-43337208-T-C		not specified	Likely benign (Jul 17, 2023)
6-43337231-G-A		not specified	Uncertain significance (Dec 06, 2022)
6-43337234-A-G		not specified	Uncertain significance (Jun 12, 2023)
6-43337277-A-C		not specified	Uncertain significance (Aug 28, 2023)
6-43337280-C-G		not specified	Uncertain significance (Aug 17, 2022)
6-43337285-G-T		not specified	Uncertain significance (Jan 10, 2023)
6-43337307-C-T		not specified	Likely benign (Jun 11, 2021)
6-43337324-A-C		not specified	Uncertain significance (Jun 02, 2023)
6-43337330-A-G		not specified	Likely benign (Aug 02, 2021)
6-43337345-G-T		not specified	Uncertain significance (Aug 02, 2021)
6-43337359-C-T			Benign/Likely benign (Oct 01, 2022)
6-43337547-G-C		not specified	Uncertain significance (Dec 22, 2023)
6-43337711-C-A		not specified	Uncertain significance (Jul 21, 2021)
6-43337808-G-T		not specified	Uncertain significance (Feb 22, 2023)
6-43337820-C-T		not specified	Likely benign (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF318	protein_coding	protein_coding	ENST00000361428	10	62345

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.374	0.626	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.203	1139	1.16e+3	0.983	0.0000624	14778
Missense in Polyphen		299	390.67	0.76535		4888
Synonymous	-1.64	464	421	1.10	0.0000205	4693
Loss of Function	6.21	17	75.1	0.226	0.00000490	963

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000334	0.000333
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.000109
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 2: Acts as a transcriptional corepressor for AR- mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division. {ECO:0000250|UniProtKB:Q99PP2}.
• Pathway: Androgen receptor signaling pathway;Coregulation of Androgen receptor activity (Consensus)

Recessive Scores

• pRec: 0.0889

Intolerance Scores

• loftool: 0.690
• rvis_EVS: -1.69
• rvis_percentile_EVS: 2.62

Haploinsufficiency Scores

• pHI: 0.544
• hipred: N
• hipred_score: 0.270
• ghis: 0.626

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.549

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp318
• Phenotype: hematopoietic system phenotype; reproductive system phenotype; immune system phenotype

Gene ontology

• Biological process: negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;meiotic cell cycle
• Cellular component: nucleoplasm;cytosol
• Molecular function: nucleic acid binding;zinc ion binding;protein homodimerization activity