ZNF433

zinc finger protein 433, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:12014714-12035741

Links

ENSG00000197647 ∙ NCBI:163059 ∙ ∙ HGNC:20811 ∙ Uniprot:Q8N7K0 ∙ 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 ZNF433 gene.

• Inborn genetic diseases (32 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF433 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	0	0

Variants in ZNF433

This is a list of pathogenic ClinVar variants found in the ZNF433 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-12014924-C-T		not specified	Uncertain significance (Dec 27, 2022)
19-12014933-G-C		not specified	Uncertain significance (Dec 01, 2022)
19-12014949-G-A		not specified	Uncertain significance (Mar 02, 2023)
19-12014954-C-T		not specified	Uncertain significance (Jan 03, 2024)
19-12014979-G-A		not specified	Uncertain significance (Aug 14, 2023)
19-12015059-G-A		not specified	Uncertain significance (Apr 07, 2022)
19-12015137-A-G		not specified	Uncertain significance (Mar 05, 2024)
19-12015158-G-C		not specified	Uncertain significance (Oct 22, 2021)
19-12015159-C-T		not specified	Uncertain significance (Aug 16, 2022)
19-12015296-T-G		not specified	Uncertain significance (Apr 25, 2022)
19-12015308-G-C		not specified	Uncertain significance (Oct 12, 2022)
19-12015319-G-T		not specified	Uncertain significance (Dec 01, 2022)
19-12015381-G-T		not specified	Uncertain significance (Mar 21, 2023)
19-12015383-C-A		not specified	Uncertain significance (Oct 04, 2022)
19-12015398-G-A		not specified	Uncertain significance (Feb 22, 2024)
19-12015437-G-A		not specified	Uncertain significance (Jan 07, 2022)
19-12015464-T-C		not specified	Uncertain significance (Nov 17, 2023)
19-12015528-C-G		not specified	Uncertain significance (Aug 11, 2022)
19-12015545-C-A		not specified	Uncertain significance (Jan 16, 2024)
19-12015598-C-A		not specified	Uncertain significance (Oct 06, 2021)
19-12015612-C-G		not specified	Uncertain significance (Feb 14, 2024)
19-12015800-T-A		not specified	Uncertain significance (Mar 23, 2023)
19-12015881-T-C		not specified	Uncertain significance (Oct 05, 2023)
19-12015920-C-A		not specified	Uncertain significance (Aug 02, 2021)
19-12015924-A-G		not specified	Uncertain significance (Oct 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF433	protein_coding	protein_coding	ENST00000344980	4	21010

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0122	0.663	119698	0	2	119700	0.00000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.404	372	351	1.06	0.0000164	4456
Missense in Polyphen		124	122.19	1.0148		1642
Synonymous	-0.531	131	123	1.06	0.00000615	1191
Loss of Function	0.504	3	4.10	0.732	1.76e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000629	0.0000570
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000629	0.0000570
South Asian	0.00	0.00
Other	0.000192	0.000171

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.845
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.63

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.408

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp433

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