ZNF33B

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

Basic information

Region (hg38): 10:42574185-42638570

Previous symbols: [ "ZNF11B" ]

Links

ENSG00000196693 ∙ NCBI:7582 ∙ OMIM:194522 ∙ HGNC:13097 ∙ Uniprot:Q06732 ∙ 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 ZNF33B gene.

• not_specified (116 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF33B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006955.3. 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						0
missense			111	5	1	117
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	111	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF33B	protein_coding	protein_coding	ENST00000359467	4	49438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000188	0.994	125617	1	129	125747	0.000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.222	401	389	1.03	0.0000183	5215
Missense in Polyphen		156	160.91	0.9695		2170
Synonymous	-1.18	155	137	1.13	0.00000656	1313
Loss of Function	2.46	14	28.0	0.499	0.00000134	436

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000796	0.000796
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000503	0.000501
Middle Eastern	0.000544	0.000544
South Asian	0.00118	0.00114
Other	0.000491	0.000489

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: 0.0904

Intolerance Scores

• loftool: 0.932
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.15

Haploinsufficiency Scores

• pHI: 0.219
• hipred: N
• hipred_score: 0.112
• ghis: 0.491

Essentials

• essential_gene_CRISPR: 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

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;protein binding;metal ion binding