ZNF33A

zinc finger protein 33A, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:38010650-38065088

Previous symbols: [ "ZNF33", "ZNF11A" ]

Links

ENSG00000189180 ∙ NCBI:7581 ∙ OMIM:194521 ∙ HGNC:13096 ∙ Uniprot:Q06730 ∙ 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 ZNF33A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF33A 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				1		1
missense			48	4		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	5	0

Variants in ZNF33A

This is a list of pathogenic ClinVar variants found in the ZNF33A region.

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

Position	Type	Phenotype	Significance	ClinVar
10-38016979-G-A		not specified	Uncertain significance (Dec 21, 2023)
10-38016985-C-A		not specified	Uncertain significance (Jul 25, 2023)
10-38017383-C-T		not specified	Uncertain significance (Sep 22, 2023)
10-38054392-C-G		not specified	Uncertain significance (Aug 16, 2022)
10-38054416-A-G		not specified	Uncertain significance (Feb 10, 2023)
10-38054498-C-T		not specified	Uncertain significance (Jul 14, 2021)
10-38054524-C-G		not specified	Uncertain significance (May 10, 2022)
10-38054572-A-G		not specified	Uncertain significance (Dec 21, 2023)
10-38054602-A-T		not specified	Uncertain significance (Jul 20, 2021)
10-38054641-T-G		not specified	Uncertain significance (May 17, 2024)
10-38054674-G-A		not specified	Likely benign (Nov 20, 2023)
10-38054720-C-T		not specified	Uncertain significance (Feb 10, 2023)
10-38054785-T-G		not specified	Uncertain significance (Aug 04, 2021)
10-38054800-G-A		not specified	Uncertain significance (Dec 16, 2021)
10-38054803-A-G		not specified	Uncertain significance (May 24, 2024)
10-38054821-G-A		not specified	Likely benign (Feb 23, 2023)
10-38054848-G-A		not specified	Likely benign (Mar 01, 2024)
10-38054884-A-G		not specified	Uncertain significance (Dec 19, 2022)
10-38054894-G-T		not specified	Uncertain significance (Aug 16, 2021)
10-38054996-C-T		not specified	Uncertain significance (Feb 06, 2024)
10-38055004-C-T		not specified	Uncertain significance (Feb 12, 2024)
10-38055005-A-T		not specified	Uncertain significance (Sep 23, 2023)
10-38055006-T-G		not specified	Uncertain significance (Jul 20, 2022)
10-38055031-T-A		not specified	Uncertain significance (Dec 01, 2022)
10-38055066-G-T		not specified	Uncertain significance (Apr 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF33A	protein_coding	protein_coding	ENST00000374618	4	54439

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.97e-9	0.864	125584	0	164	125748	0.000652

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.376	429	408	1.05	0.0000185	5441
Missense in Polyphen		134	134.36	0.99733		1741
Synonymous	-0.856	161	148	1.09	0.00000700	1363
Loss of Function	1.71	18	27.7	0.649	0.00000123	416

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00256	0.00256
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00104	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.000608	0.000598
Middle Eastern	0.00104	0.00103
South Asian	0.000817	0.000817
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0738

Intolerance Scores

• loftool: 0.918
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.25

Haploinsufficiency Scores

• pHI: 0.0933
• hipred: N
• hipred_score: 0.194
• ghis: 0.483

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.468

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, DNA-templated;regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding