ZNF235

zinc finger protein 235, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44228728-44305046

Previous symbols: [ "ZNF270", "ZFP93" ]

Links

ENSG00000159917 ∙ NCBI:9310 ∙ OMIM:604749 ∙ HGNC:12866 ∙ Uniprot:Q14590 ∙ 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 ZNF235 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF235 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	3		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			43	4	1	48
Total	0	0	75	7	1

Variants in ZNF235

This is a list of pathogenic ClinVar variants found in the ZNF235 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44229793-T-C		not specified	Uncertain significance (May 18, 2023)
19-44234729-C-T		not specified	Uncertain significance (Feb 23, 2023)
19-44234866-G-A		not specified	Uncertain significance (Mar 16, 2024)
19-44234896-C-G		not specified	Uncertain significance (Apr 03, 2023)
19-44234942-T-C		not specified	Uncertain significance (Jan 23, 2023)
19-44235049-T-C		not specified	Uncertain significance (Jun 09, 2022)
19-44235180-T-G		not specified	Uncertain significance (Nov 22, 2022)
19-44235261-C-G		not specified	Uncertain significance (Dec 05, 2022)
19-44235286-A-C		not specified	Uncertain significance (Jan 23, 2023)
19-44235301-C-T		not specified	Uncertain significance (Apr 15, 2024)
19-44235418-G-A		not specified	Uncertain significance (Nov 09, 2021)
19-44235440-C-T		not specified	Uncertain significance (May 09, 2024)
19-44235461-G-A		not specified	Uncertain significance (Jun 02, 2023)
19-44235566-C-T		not specified	Uncertain significance (Apr 07, 2022)
19-44235598-G-A		not specified	Uncertain significance (Jun 23, 2021)
19-44235617-G-A		not specified	Uncertain significance (Apr 09, 2024)
19-44235648-G-T		not specified	Uncertain significance (Apr 04, 2024)
19-44235698-T-G		not specified	Uncertain significance (Nov 13, 2023)
19-44235787-T-A		not specified	Uncertain significance (Jan 30, 2024)
19-44235890-C-T		not specified	Uncertain significance (May 23, 2023)
19-44235898-A-G		not specified	Uncertain significance (Oct 24, 2023)
19-44235984-A-C		not specified	Uncertain significance (Feb 26, 2024)
19-44236058-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-44236114-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-44236154-C-T		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF235	protein_coding	protein_coding	ENST00000291182	4	76318

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.38e-10	0.752	125664	0	83	125747	0.000330

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.693	350	388	0.901	0.0000188	4965
Missense in Polyphen		133	172.57	0.7707		2220
Synonymous	0.131	134	136	0.986	0.00000673	1279
Loss of Function	1.54	19	27.8	0.684	0.00000152	366

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000543	0.000543
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000272	0.000272
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000309	0.000308
Middle Eastern	0.000272	0.000272
South Asian	0.000752	0.000752
Other	0.000653	0.000652

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: 0.0886

Intolerance Scores

• loftool: 0.861
• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.57

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.112
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.349

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp235

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;DNA-binding transcription factor activity;metal ion binding