ZNF330

zinc finger protein 330, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 4:141220886-141234697

Links

ENSG00000109445 ∙ NCBI:27309 ∙ OMIM:609550 ∙ HGNC:15462 ∙ Uniprot:Q9Y3S2 ∙ 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 ZNF330 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF330 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in ZNF330

This is a list of pathogenic ClinVar variants found in the ZNF330 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-141229572-G-C		not specified	Uncertain significance (Jan 31, 2024)
4-141229625-A-G		not specified	Uncertain significance (Nov 12, 2021)
4-141229661-G-C		not specified	Uncertain significance (Jan 03, 2024)
4-141230228-C-T		not specified	Uncertain significance (May 18, 2023)
4-141231478-G-A		not specified	Uncertain significance (Feb 16, 2023)
4-141232621-A-G		not specified	Uncertain significance (Nov 08, 2021)
4-141233766-C-G		not specified	Uncertain significance (Sep 25, 2023)
4-141233781-C-T		not specified	Uncertain significance (May 23, 2023)
4-141233794-C-A		not specified	Uncertain significance (May 04, 2022)
4-141233820-C-T		not specified	Uncertain significance (Jun 02, 2023)
4-141233927-A-T		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF330	protein_coding	protein_coding	ENST00000262990	9	13811

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0491	0.950	125719	0	18	125737	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.549	154	174	0.883	0.00000880	2129
Missense in Polyphen		54	75.737	0.71299		896
Synonymous	0.0827	56	56.8	0.986	0.00000279	528
Loss of Function	2.91	6	20.1	0.299	0.00000103	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000174	0.000174
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000799	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.720
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.18

Haploinsufficiency Scores

• pHI: 0.145
• hipred: Y
• hipred_score: 0.595
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp330

Gene ontology

• Biological process: biological_process
• Cellular component: chromosome, centromeric region;nucleolus;midbody
• Molecular function: protein binding;zinc ion binding;metal ion binding