ZNF319

zinc finger protein 319, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:57994676-58000672

Links

ENSG00000166188 ∙ NCBI:57567 ∙ ∙ HGNC:13644 ∙ Uniprot:Q9P2F9 ∙ 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 ZNF319 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF319 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				2		2
missense			29	1		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	3	0

Variants in ZNF319

This is a list of pathogenic ClinVar variants found in the ZNF319 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-57996542-T-C		not specified	Uncertain significance (Feb 28, 2023)
16-57996546-C-T		not specified	Uncertain significance (Oct 26, 2022)
16-57996560-G-A		not specified	Uncertain significance (Jan 05, 2022)
16-57996560-G-C		not specified	Uncertain significance (Apr 04, 2023)
16-57996638-T-C		not specified	Uncertain significance (Dec 22, 2023)
16-57996654-G-C		not specified	Uncertain significance (Aug 26, 2024)
16-57996762-G-C		not specified	Uncertain significance (Sep 28, 2021)
16-57996774-C-T		not specified	Uncertain significance (Nov 15, 2023)
16-57996778-C-G		not specified	Uncertain significance (Sep 28, 2021)
16-57996917-T-C		not specified	Uncertain significance (Dec 12, 2022)
16-57996959-G-T		not specified	Uncertain significance (Jan 03, 2022)
16-57996998-G-A		not specified	Uncertain significance (Dec 13, 2021)
16-57997002-C-T		not specified	Uncertain significance (Apr 08, 2024)
16-57997149-A-T		not specified	Uncertain significance (Dec 03, 2021)
16-57997216-C-T		not specified	Uncertain significance (Feb 01, 2023)
16-57997260-T-C		not specified	Uncertain significance (Dec 04, 2024)
16-57997325-G-A		not specified	Uncertain significance (Oct 06, 2022)
16-57997386-A-T		not specified	Uncertain significance (Jan 15, 2025)
16-57997739-G-A		not specified	Uncertain significance (Jan 17, 2023)
16-57997748-G-A		not specified	Uncertain significance (Sep 25, 2024)
16-57997853-T-C		not specified	Uncertain significance (Dec 17, 2024)
16-57997880-T-C		not specified	Uncertain significance (Dec 25, 2024)
16-57997893-C-T		not specified	Uncertain significance (Jan 19, 2024)
16-57997921-C-G		not specified	Uncertain significance (Jul 05, 2024)
16-57997932-T-A		not specified	Uncertain significance (Jan 23, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF319	protein_coding	protein_coding	ENST00000299237	1	5786

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.993	0.00715	125726	0	5	125731	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.84	240	400	0.601	0.0000296	3770
Missense in Polyphen		85	190.17	0.44696		1766
Synonymous	1.65	162	191	0.848	0.0000157	1157
Loss of Function	3.84	1	19.2	0.0522	8.35e-7	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000120	0.0000924
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• rvis_EVS: -0.75
• rvis_percentile_EVS: 13.58

Haploinsufficiency Scores

• pHI: 0.702
• hipred: Y
• hipred_score: 0.740
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.782

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp319

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;metal ion binding