ZNF331

zinc finger protein 331, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:53519526-53580269

Links

ENSG00000130844 ∙ NCBI:55422 ∙ OMIM:606043 ∙ HGNC:15489 ∙ Uniprot:Q9NQX6 ∙ 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 ZNF331 gene.

• Inborn genetic diseases (12 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF331 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			12		1	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	3

Variants in ZNF331

This is a list of pathogenic ClinVar variants found in the ZNF331 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53571631-A-G		not specified	Uncertain significance (Mar 21, 2023)
19-53571641-C-G		not specified	Uncertain significance (Jan 19, 2022)
19-53571727-C-T			Benign (Jun 05, 2018)
19-53576769-G-A		not specified	Uncertain significance (Nov 21, 2022)
19-53576810-A-G		not specified	Uncertain significance (Sep 17, 2021)
19-53576856-A-T		not specified	Uncertain significance (Nov 15, 2021)
19-53576886-A-T			Benign (Jun 01, 2018)
19-53577038-G-C		not specified	Uncertain significance (Jul 27, 2022)
19-53577075-A-G		not specified	Uncertain significance (Sep 22, 2023)
19-53577122-G-A		not specified	Uncertain significance (Mar 11, 2024)
19-53577174-A-G		not specified	Uncertain significance (Aug 22, 2023)
19-53577290-G-A		not specified	Uncertain significance (May 31, 2023)
19-53577478-G-C		not specified	Uncertain significance (Feb 17, 2024)
19-53577495-A-G		not specified	Uncertain significance (Aug 02, 2021)
19-53577504-C-T		not specified	Uncertain significance (Feb 21, 2024)
19-53577542-G-A		not specified	Uncertain significance (Feb 05, 2024)
19-53577603-T-C		not specified	Uncertain significance (Jul 20, 2022)
19-53577816-G-A		not specified	Uncertain significance (Dec 05, 2022)
19-53577827-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-53577934-G-A			Benign (Jun 05, 2018)
19-53577947-A-G		not specified	Uncertain significance (Aug 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF331	protein_coding	protein_coding	ENST00000253144	3	59289

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.979	0.0207	125689	0	3	125692	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.08	177	274	0.646	0.0000156	3106
Missense in Polyphen		79	156.46	0.50492		1805
Synonymous	0.368	99	104	0.954	0.00000688	794
Loss of Function	3.51	1	16.3	0.0615	8.20e-7	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. May play a role in spermatogenesis.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.149

Intolerance Scores

• loftool: 0.101
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.547
• hipred: N
• hipred_score: 0.380
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.623

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
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;zinc ion binding