ZNF436

zinc finger protein 436, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:23359448-23369836

Links

ENSG00000125945 ∙ NCBI:80818 ∙ OMIM:611703 ∙ HGNC:20814 ∙ Uniprot:Q9C0F3 ∙ 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 ZNF436 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF436 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in ZNF436

This is a list of pathogenic ClinVar variants found in the ZNF436 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-23361991-T-C		not specified	Uncertain significance (Feb 06, 2023)
1-23362004-C-T		not specified	Uncertain significance (Nov 15, 2021)
1-23362040-A-C		not specified	Uncertain significance (Oct 04, 2023)
1-23362142-C-G		not specified	Uncertain significance (Jan 04, 2022)
1-23362205-T-G		not specified	Uncertain significance (Jan 23, 2023)
1-23362242-G-T		not specified	Uncertain significance (Jun 16, 2024)
1-23362286-C-A		not specified	Uncertain significance (Nov 02, 2023)
1-23362408-C-T		not specified	Uncertain significance (Nov 24, 2021)
1-23362525-C-T		not specified	Uncertain significance (Mar 06, 2023)
1-23362622-C-T		not specified	Uncertain significance (Feb 09, 2022)
1-23362627-C-T		not specified	Uncertain significance (Sep 22, 2023)
1-23362804-G-A		not specified	Uncertain significance (Sep 13, 2023)
1-23362925-G-C		not specified	Uncertain significance (Aug 02, 2022)
1-23362928-C-G		not specified	Uncertain significance (Jun 02, 2023)
1-23362966-A-G		not specified	Uncertain significance (Jun 18, 2021)
1-23362976-G-A		not specified	Uncertain significance (Mar 25, 2024)
1-23363063-C-T		not specified	Uncertain significance (Jan 04, 2024)
1-23363087-C-T		not specified	Likely benign (Oct 03, 2023)
1-23363144-C-G		not specified	Uncertain significance (Aug 14, 2023)
1-23363198-C-T		not specified	Uncertain significance (Oct 10, 2023)
1-23367097-C-A		not specified	Uncertain significance (Dec 18, 2023)
1-23367104-G-C		not specified	Uncertain significance (Jul 13, 2022)
1-23367151-T-G		not specified	Uncertain significance (Mar 20, 2023)
1-23367995-G-A		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF436	protein_coding	protein_coding	ENST00000314011	3	9995

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000513	0.970	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.975	218	262	0.831	0.0000147	3157
Missense in Polyphen		58	74.135	0.78235		859
Synonymous	-0.593	100	92.7	1.08	0.00000543	830
Loss of Function	1.96	10	19.3	0.518	0.00000113	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000880	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a transcriptional repressor. {ECO:0000269|PubMed:17089209}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.457
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.25

Haploinsufficiency Scores

• pHI: 0.502
• hipred: Y
• hipred_score: 0.533
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.949

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp46

Gene ontology

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