ZNF236

zinc finger protein 236, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 18:76822557-76972901

Links

ENSG00000130856 ∙ NCBI:7776 ∙ OMIM:604760 ∙ HGNC:13028 ∙ Uniprot:Q9UL36 ∙ 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 ZNF236 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF236 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				5	9	14
missense			67	11	2	80
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding					1	1
Total	0	0	67	16	12

Variants in ZNF236

This is a list of pathogenic ClinVar variants found in the ZNF236 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-76824402-C-T			Likely benign (Jun 01, 2022)
18-76849541-T-G		not specified	Uncertain significance (Apr 13, 2022)
18-76849597-A-G		not specified	Uncertain significance (Feb 05, 2024)
18-76851850-G-T		not specified	Uncertain significance (Dec 12, 2023)
18-76851886-T-C		not specified	Uncertain significance (Nov 30, 2022)
18-76871778-C-T		not specified	Uncertain significance (Dec 30, 2023)
18-76875524-A-G		Optic atrophy;Global developmental delay;Delayed speech and language development;Cerebellar ataxia	Uncertain significance (May 04, 2020)
18-76875567-A-G		not specified	Uncertain significance (Jan 05, 2022)
18-76878079-C-T		not specified	Uncertain significance (Nov 21, 2023)
18-76878106-G-A		not specified	Uncertain significance (Mar 29, 2023)
18-76878123-A-G		not specified	Likely benign (Jun 07, 2024)
18-76878151-C-T		not specified	Uncertain significance (Jan 11, 2023)
18-76880147-C-T		not specified	Uncertain significance (Oct 22, 2021)
18-76880165-C-T			Likely benign (Jun 19, 2018)
18-76880212-C-A			Benign (Mar 02, 2018)
18-76880224-C-A		not specified	Uncertain significance (Apr 17, 2023)
18-76881314-A-G		not specified	Uncertain significance (Dec 27, 2023)
18-76881354-A-G		not specified	Uncertain significance (Oct 25, 2022)
18-76881363-C-T		not specified	Uncertain significance (Oct 27, 2022)
18-76881389-T-C		not specified	Likely benign (Feb 27, 2023)
18-76881408-A-G		not specified	Uncertain significance (Feb 09, 2022)
18-76881453-C-T		not specified	Uncertain significance (Feb 11, 2022)
18-76881454-G-A			Benign (May 08, 2018)
18-76881456-A-C		not specified	Uncertain significance (Mar 01, 2023)
18-76895038-G-T			Likely benign (Apr 16, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF236	protein_coding	protein_coding	ENST00000253159	31	148121

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.38e-8	124903	0	14	124917	0.0000560

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.84	743	1.10e+3	0.675	0.0000678	12163
Missense in Polyphen		187	390.02	0.47947		4250
Synonymous	-0.165	462	458	1.01	0.0000322	3525
Loss of Function	7.75	8	85.2	0.0939	0.00000435	1003

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000259	0.000256
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000467	0.0000464
European (Non-Finnish)	0.0000711	0.0000706
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.165
• rvis_EVS: -1.53
• rvis_percentile_EVS: 3.35

Haploinsufficiency Scores

• pHI: 0.173
• hipred: Y
• hipred_score: 0.575
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.294

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp236

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;cellular response to glucose stimulus
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding