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.

• not_specified (305 variants)
• not_provided (10 variants)

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. These statistics are base on transcript: NM_000014345.3. 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				5	2	7
missense			288	16	1	305
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	288	21	3

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